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Sample records for thalassemia major patients

  1. Parathyroid hormone in pediatric patients with β-thalassemia major ...

    African Journals Online (AJOL)

    Results: Thalassemic patients had significantly higher alkaline phosphatase and lower bone mineral density. Conclusion: Osteopenia in β-thalassemia major patients is multifactorial and is mainly predisposed by defective function of the parathyroid gland and excessive iron deposition. Keywords: Parathyroid; Thalassemia ...

  2. Diabetes mellitus in β-thalassemia major patients

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    Riadi Wirawan

    2003-06-01

    Full Text Available β-thalassemia major is a disease caused by β polypeptide chain synthesis disorder which is inherited as an autosomal recessive from both parents which is marked by little or no β globin chain synthesis. Medication for β thalassemia major patients is by repeated blood transfusions, which causes hemochromatosis. Hemochromatosis can occur in various organs including the pancreas. The aim of the study was to assess the alteration of plasma glucose concentration and the hemochromatosis prevalence. Fasting plasma glucose concentration and serum ferritin examination were measured in 115 β thalassemia major patients with ages between 10-23 years who were out-patients in the Thalassemia Centre, Department of Child Health, Medical School, University of Indonesia / Dr. Cipto Mangunkusumo General Hospital, Jakarta. The plasma glucose concentration examination was conducted by the GDH enzymatic method, with American Diabetes Association (ADA criteria in the evaluation, while the serum ferritin examination was conducted with the microparticle enzyme immuno assay (MEIA method. All patients had hemochromatosis, 14.8% of the patients had impaired fasting glucose level and 2.6% of the patients showed indications of diabetes mellitus. β thalassemia major patients who receive frequent transfusions will develop hemochromatosis that will in turn impair the pancreatic function. (Med J Indones 2003; 12: 87-93 Keywords : β thalassemia major, hemochromatosis, diabetes mellitus

  3. Body Composition in Adult Patients with Thalassemia Major

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    Marianna Vlychou

    2016-01-01

    Full Text Available Objective. To assess body composition in adult male and female patients with thalassemia major by dual-energy X-ray absorptiometry (DXA and to compare the findings with a group of healthy age-matched controls. Methods. Our study group included sixty-two patients (27 males, mean age 36 years, and 35 females, mean age 36.4 years and fifteen age-matched healthy controls. All patients had an established diagnosis of thalassemia major and followed a regular blood transfusion scheme since childhood and chelation treatment. Fat, lean, and bone mineral density (BMD were assessed with dual-energy X-ray absorptiometry. Ferritin levels and body mass index of all patients and controls were also recorded. Student t-test and Wilcoxon test were performed and statistical significance was set at p<0.05. Results. BMD and whole body lean mass are lower in both male and female adult patients compared with controls (p<0.01 in both groups, whereas whole body fat mass was found to have no statistically significant difference compared to controls. Regional trunk fat around the abdomen was found to be lower in male patients compared to controls (p=0.02. Conclusion. Severe bone loss and diminished lean mass are expected in adult male and female patients with thalassemia major. Fat changes seem to affect mainly male patients.

  4. Beta Globin Frameworks in Thalassemia Major Patients from North Iran

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    Akhavan-Niaki, Haleh; Banihashemi, Ali; Azizi, Mandana

    2012-01-01

    Objective Four combinations of five neutral sequence changes at rs713040, rs10768683, rs7480526, rs7946748, and rs1609812 occurring in the human beta globin gene defined as frameworks have been reported in beta globin gene. Here we report for the frequency of these frameworks in thalassemia major patients of North Iran. Methods Beta globin gene frameworks of 46 thalassemia major patients of North Iran were determined using Denaturing Gradient Gel Electrophoresis. Findings All these frameworks called framework 1, 2, 3, 3a were present at the frequency of 23.9%, 45.7%, 6.5% and 23.9% respectively. Conclusion These frameworks may be used for tracking mutant alleles in prenatal diagnosis programs. PMID:23399541

  5. Self-care in Patient with Major Thalassemia: A Grounded Theory.

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    Pouraboli, Batool; Abedi, Heidar Ali; Abbaszadeh, Abbass; Kazemi, Majid

    2017-06-01

    Introduction: Self-care is the core concept of health care and may be considered as one's stabilization, and restoration as well as the improvement of his/her health and well-being. Looking at the process of Self-care from patients' perspective who suffer from thalassemia may assist the nurses and health care providers to facilitate the health process. Thus this study was conducted to discover the process of self-care in patients with major thalassemia. Methods: This qualitative study was conducted with grounded theory approach. 21 patients with major thalassemia from a Medical Research Center, supervised by Kerman Medical University, were selected through purposeful and theoretical sampling. Data were collected by unstructured interviews which lasted 30-60 minutes. These data were analyzed using the method of Corbin and Strauss. Results: The main theme of "struggling to improve life quality" that included the sub-themes of "focus on needs of illness, "activating resources" and "restoring a new identity with thalassemia" were extracted from the data. This theme implies that participants endeavor to strengthen their self- efficacy via thalassemia. "Looking for strengthening self-efficacy in light of thalassemia" was the core theme in this study. Conclusion: Facilitating the process of self-care in patients with major thalassemia requires that they be helped so that their self-efficacy, influenced by real life conditions, might be strengthened in light of thalassemia. Increasing public awareness and social support may affect the recognition of individual, family and society.

  6. Evaluation of cardiac functions in patients with thalassemia major

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    Kucuk, N.O.; Aras, G.; Sipahi, T.; Ibis, E.; Akar, N.; Soylu, A.; Erbay, G. [Ankara Univ. (Turkey). Medical School

    1999-06-01

    It is known that a blood transfusion is necessary for survival in patients with thalassemia, but it may cause myocardial dysfunction due to myocardial siderosis as in other organs. The aim of this study was to evaluate myocardial perfusion by means of stress thallium scanning (MPS) and left ventricular functions by rest radionuclide ventriculography (RNV). Twenty-one patients at ages 9-16 (mean 12.1{+-}3.2) who have been diagnosed with thalassemia for 4-15 years mean 12.7{+-}4.8) were included in the study. They had blood transfusion 78-318 times (mean 162.1{+-}71). MPS and RNV was performed within two days after the any transfusion. MPS showed ischemia in 3 patients and normal perfusion in 18 patients. RNV revealed normal systolic parameters (wall motion, EF, PER, TPE) but diminished diastolic parameters (TPF, PFR) compared with normal values (p<0.05). We conclude that ischemia or fixed defects may be seen in stress MPS as results of cardiac involvement in patients with thalassemia. But, RNV is an important and preferable test for the early detection of subclinic cardiomyopathy. RNV may therefore show diastolic abnormalities before the systolic abnormalities show up. (author)

  7. Electrocardiographic Presentation, Cardiac Arrhythmias, and Their Management in β-Thalassemia Major Patients.

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    Russo, Vincenzo; Rago, Anna; Papa, Andrea Antonio; Nigro, Gerardo

    2016-07-01

    Beta-thalassemia major (β-TM) is a genetic hemoglobin disorder characterized by an absent synthesis of globin chains that are essential for hemoglobin formation, causing chronic hemolytic anemia. Clinical management of thalassemia major consists in regular long-life red blood cell transfusions and iron chelation therapy to remove iron introduced in excess with transfusions. Iron deposition in combination with inflammatory and immunogenic factors is involved in the pathophysiology of cardiac dysfunction in these patients. Heart failure and arrhythmias, caused by myocardial siderosis, are the most important life-limiting complications of iron overload in beta-thalassemia patients. Cardiac complications are responsible for 71% of global death in the beta-thalassemia major patients. The aim of this review was to describe the most frequent electrocardiographic abnormalities and arrhythmias observed in β-TM patients, analyzing their prognostic impact and current treatment strategies. © 2016 Wiley Periodicals, Inc.

  8. [Osteodystrophy in thalassemia major].

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    Bisbocci, D; Livorno, P; Modina, P; Gambino, M; Damiano, P; Cantoni, R; Villata, E; Chiandussi, L

    1993-01-01

    Subjects with thalassemia major frequently have bone disorders of debatable pathogenesis. We attempt here to analyze the relationships between siderosis and thalassemic osteodystrophy by assessing calcium-phosphorus balance, hormone-vitamin homeostasis, osteoblastic-osteoclastic activity parameters, and bone mineral density (BMD) in 30 patients with thalassemia major (16 males, 14 females, age range 17-30 years). We found a significant increase in ferritin (p < 0.001) and significant decreases in serum i-PTH, 25OHD3, 1.25(OH)2D3, osteocalcin, estradiol, testosterone and FT4 (p < 0.001) in both sexes. In all patients a net decrease of bone mineral density was documented (p < 0.001). These results were then submitted to linear regression analysis: positive correlations between BMD and FT3, testosterone, estradiol (p < 0.01), were documented, and an inverse correlation between osteocalcin and ferritin was confirmed. Our findings suggest that thalassemic osteodystrophy is the result of several inhibitory influences on osteoblastic activity and bone apposition (related to hormone deficits and siderosis) which are aggravated further by anemia, chronic hypoxia and red marrow expansion.

  9. Alloimmunization and autoimmunization in transfusion dependent thalassemia major patients: Study on 319 patients.

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    Dhawan, Hari Krishan; Kumawat, Vijay; Marwaha, Neelam; Sharma, Ratti Ram; Sachdev, Suchet; Bansal, Deepak; Marwaha, Ram Kumar; Arora, Satyam

    2014-07-01

    The development of anti-red blood cell antibodies (both allo-and autoantibodies) remains a major problem in thalassemia major patients. We studied the frequency of red blood cell (RBC) alloimmunization and autoimmunization among thalassemia patients who received regular transfusions at our center and analyzed the factors, which may be responsible for development of these antibodies. The study was carried out on 319 multiply transfused patients with β-thalassemia major registered with thalassemia clinic at our institute. Clinical and transfusion records of all the patients were examined for age of patients, age at initiation of transfusion therapy, total number of blood units transfused, transfusion interval, status of splenectomy or other interventions. Alloantibody screening and identification was done using three cell and 11 cell panel (Diapanel, Bio-rad, Switzerland) respectively. To detect autoantibodies, autocontrol was carried out using polyspecific coombs (IgG + C3d) gel cards. Eighteen patients out of total 319 patients (5.64%) developed alloantibodies and 90 (28.2%) developed autoantibodies. Nine out of 18 patients with alloantibodies also had autoantibodies. Age at first transfusion was significantly higher in alloimmunized than non-immunized patients (P = 0.042). Out of 23 alloantibodies, 52.17% belonged to Rh blood group system (Anti-E = 17%, Anti D = 13%, Anti-C = 13%, Anti-C(w) = 9%), 35% belonged to Kell blood group system, 9% of Kidd and 4% of Xg blood group system. Alloimmunization was detected in 5.64% of multitransfused thalassemia patients. Rh and Kell blood group system antibodies accounted for more than 80% of alloantibodies. This study re-emphasizes the need for RBC antigen typing before first transfusion and issue of antigen matched blood (at least for Rh and Kell antigen). Early institution of transfusion therapy after diagnosis is another means of decreasing alloimmunization.

  10. Alloimmunization and autoimmunization in transfusion dependent thalassemia major patients: Study on 319 patients

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    Hari Krishan Dhawan

    2014-01-01

    Full Text Available Background: The development of anti-red blood cell antibodies (both allo-and autoantibodies remains a major problem in thalassemia major patients. We studied the frequency of red blood cell (RBC alloimmunization and autoimmunization among thalassemia patients who received regular transfusions at our center and analyzed the factors, which may be responsible for development of these antibodies. Materials and Methods: The study was carried out on 319 multiply transfused patients with β-thalassemia major registered with thalassemia clinic at our institute. Clinical and transfusion records of all the patients were examined for age of patients, age at initiation of transfusion therapy, total number of blood units transfused, transfusion interval, status of splenectomy or other interventions. Alloantibody screening and identification was done using three cell and 11 cell panel (Diapanel, Bio-rad, Switzerland respectively. To detect autoantibodies, autocontrol was carried out using polyspecific coombs (IgG + C3d gel cards. Results: Eighteen patients out of total 319 patients (5.64% developed alloantibodies and 90 (28.2% developed autoantibodies. Nine out of 18 patients with alloantibodies also had autoantibodies. Age at first transfusion was significantly higher in alloimmunized than non-immunized patients (P = 0.042. Out of 23 alloantibodies, 52.17% belonged to Rh blood group system (Anti-E = 17%, Anti D = 13%, Anti-C = 13%, Anti-C w = 9%, 35% belonged to Kell blood group system, 9% of Kidd and 4% of Xg blood group system. Conclusion: Alloimmunization was detected in 5.64% of multitransfused thalassemia patients. Rh and Kell blood group system antibodies accounted for more than 80% of alloantibodies. This study re-emphasizes the need for RBC antigen typing before first transfusion and issue of antigen matched blood (at least for Rh and Kell antigen. Early institution of transfusion therapy after diagnosis is another means of decreasing

  11. Hypoparathyroidism and intracerebral calcification in patients with beta-thalassemia major

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    Karimi, M. [Iran-Shiraz-Namazee Hospital, Namazee Square, Hematology Research Center, Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: karimim@sums.ac.ir; Rasekhi, A.R. [Iran-Shiraz-Namazee Hospital, Namazee Square, Imaging Research Center, Department of Radiology, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: rasekhia@sums.ac.ir; Rasekh, M. [Iran-Shiraz-Namazee Hospital, Namazee Square, Department of Endocrinology and Metabolism, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: Rasekhm@sums.ac.ir; Nabavizadeh, S.A. [Iran-Shiraz-Namazee Hospital, Namazee Square, Imaging Research Center, Department of Radiology, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: nabavia@gmail.com; Assadsangabi, R. [Iran-Shiraz-Namazee Hospital, Namazee Square, Imaging Research Center, Department of Radiology, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: assadsangabi@yahoo.com; Amirhakimi, G.H. [Iran-Shiraz-Namazee Hospital, Namazee Square, Department of Endocrinology and Metabolism, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: amirhakimig@sums.ac.ir

    2009-06-15

    Background: Hypoparathyroidism is one of the most important endocrine complications of thalassemia major. This study was conducted to evaluate the prevalence of intracerebral calcifications in patients with thalassemia with and without hypoparathyroidism. Methods: 47 beta-thalassemia patients with hypoparathyroidism underwent a brain CT scan to investigate the presence and extent of intracerebral calcification. 30 age- and sex-matched beta-thalassemic patients with normal parathyroid function who had undergone brain CT for headache, or some other minor neurologic problems were also enrolled in the study serving as controls. The amount of intracerebral calcification, hematologic parameters, and some clinical findings were compared between both groups. Results: Intracerebral calcification was present in 54.2% of beta-thalassemia patients with hypoparathyroidism. The most frequent sites of calcification were basal ganglia, and frontoparietal areas of the brain. Thalami, internal capsule, cerebellum and posterior fossa were other less frequently calcified regions of the brain. In contrast, there was no evidence of intracerebral calcifications in the 30 thalassemic patients with normal parathyroid function. There was not a statistically significant difference between serum ferritin concentrations in thalassemia patient with hypoparathyroidism and those with normal parathyroid function (2781 vs. 2178, P > 0.05). Conclusion: Intracranial calcification is a common finding in thalassemia patients with hypoparathyroidism, it can be extensive and involves most regions of the brain.

  12. -Thalassemia Mutations among Transfusion-Dependent Thalassemia Major Patients in Northern Iraq

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    Nasir A. S. Al-Allawi

    2010-01-01

    Full Text Available Molecular defects responsible for -thalassemias (thal were investigated among 254 chromosomes from 127 transfusion-dependent unrelated thalassemic patients from two provinces in Northern Iraq. Among fourteen identified mutations, the seven most common found in 88.2% of the thal chromosomes were: IVS-II-1 (G→A, IVS-I-1 (G→A, codon 8 (−AA, codon 39 (G→T, codon 8/9 (+G, codon 44 (−C, and codon 5 (−CT. There were some notable differences in frequencies of various mutations in comparison to other Eastern Mediterranean populations, as well as between the two provinces studied. The latter illustrates the relative heterogeneity of the mutations distribution in Iraq, and the need to screen other areas of the country, to ensure establishing an effective prenatal program.

  13. Aortic Distensibility in β-Thalassemia Major

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    A Aslani

    2008-11-01

    Full Text Available Background: Any unfavorable effect of β-Thalassemia major on aortic distensibility will contribute to the adverseeffects of β-Thalassemia major on the cardiovascular system. To evaluated aortic distensibility in patients with β-Thalassemia major. Patients and Methods: The study comprised eighty (46 males consecutive β-Thalassemia major patients and 80 control subjects matched for age and gender were selected. Results: Aortic distensibility was approximately two-fold lower in patients compared with control subjects [aorticdistensibility: 1.4 ± 0.8 vs 3.6 ± 1.2, cm2 dyn-1 10-6, P = 0.01. Conclusion: β-Thalassemia major causes significant decrease in aortic distensibility.

  14. Magnetic Resonance Comparison of Left-Right Heart Volumetric and Functional Parameters in Thalassemia Major and Thalassemia Intermedia Patients

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    Carlo Liguori

    2015-01-01

    Full Text Available Objectives. To evaluate a population of asymptomatic thalassemia major (TM and thalassemia intermedia (TI patients using cardiovascular magnetic resonance (CMR. We supposed that TI group could be differentiated from the TM group based on T2∗ and that the TI group could demonstrate higher cardiac output. Methods. A retrospective analysis of 242 patients with TM and TI was performed (132 males, 110 females; mean age 39.6±8 years; 186 TM, 56 TI. Iron load was assessed by T2∗ measurements; volumetric functions were analyzed using steady-state-free precession sequences. Results. Significant difference in left-right heart performance was observed between TM with iron overload and TI patients and between TM with iron overload and TM without iron overload (P<0.05; no significant differences were observed between TM without iron overload and TI patients. A significant correlation was observed between T2∗ and ejection fraction of right ventricle- (RV- ejection fraction of left ventricle (LV; an inverse correlation was present among T2∗ values and end-diastolic volume of LV, end-systolic volume of LV, stroke volume of LV, end-diastolic volume of RV, end-systolic volume of RV, and stroke volume of RV. Conclusions. CMR is a leading approach for cardiac risk evaluation of TM and TI patients.

  15. Resolution of alloimmunization and refractory autoimmune hemolytic anemia in a multi-transfused beta-thalassemia major patient

    OpenAIRE

    Joseph Philip; Neelesh Jain

    2014-01-01

    Beta-thalassemia is one of the most prevalent autosomal disorders, which affect more than 400,000 newborn per year worldwide. In India, the carrier rate of beta-thalassemia varies from 3-17%. The overall rate of alloimmunization in thalassemia patients has been reported to be 5-30% in the world, which is mostly contributed by the alloimmunization to minor blood group antigen. Among Asians, the incidence of red cell alloimmunization is 22%. The recommended treatment for beta-thalassemia major ...

  16. QUALITY OF LIFE IN PATIENTS WITH THALASSEMIA MAJOR AND INTERMEDIA IN KERMAN-IRAN (I.R.

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    Hossein Safizadeh

    2012-10-01

    Full Text Available Thalassemia is the most common hemoglobin disorder in the world and thalassemia major and intermedia stand among the most severe forms. Due to recent improvements in treatment, patients with thalassemia have longer life expectancies; hence it is of utmost importance to pay careful attention to their quality of life together with life expectancy. This study was conducted to assess the quality of life in patients with thalassemia and also to compare it between thalassemia major and intermedia. In this cross-sectional study, patients who referred for blood transfusion or follow-up visits were evaluated for their quality of life (QOL. Short Form-36 questionnaire was applied to evaluate QOL. In this study, 308 patients with a mean age of 22.95±4.82 years were evaluated. The scores of QOL were regarded as moderate in eight domains under evaluation; the least score was given to General Health (53.05±16.96 whereas the highest score was given to Physical Functioning (67.95±22.68. The QOL in the patients with thalassemia major was better than those with thalassemia intermedia regarding Physical Functioning and Role Limitation Emotional domains. Compared to injecting chelators, patients who received oral chelators showed to have a better QOL considering Social Functioning and Mental Health domain. The patients under study didn’t have a satisfying QOL ;  the QOL of patients with thalassemia major was better than that of patients with  thalassemia intermedia in only 2 domains of sf-36(Physical Functioning & Role limitation-Emotional. It is then essential that experts pay proper attention to improve QOL among patients.

  17. Markers of bone metabolism in eugonadal female patients with beta-thalassemia major.

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    Angelopoulos, Nicholas G; Goula, Anastasia; Katounda, Eugenia; Rombopoulos, Grigorios; Kaltzidou, Victoria; Kaltsas, Dimitrios; Konstandelou, Evangellia; Tolis, George

    2007-01-01

    Osteoprotegerin (OPG) and receptor activator of NF-kappaB ligand (RANKL) have been recently implicated in the pathogenesis of various types of osteoporosis. The aim of this study was to investigate bone turnover in eugonadal female patients with this disease and characterize the possible role of the OPG/RANKL system in thalassemia-related bone loss. Markers of bone turnover and bone mineral density (BMD) were measured in 16 eugonadal young females with beta-thalassemia major and 18 age- and sex-matched healthy controls. Bone turnover was significantly increased in thalassemic patients compared to controls but OPG was significantly higher in healthy subjects. BMD values negatively correlated with urine markers of bone resorption but not with OPG/sRANKL system.

  18. Knowledge, attitude, and preventive practice of major thalassemia patients regarding the importance of calcium and Vitamin D

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    Mehdikhani, Bahar; Eslami, Ahmadreza; Qorbani, Mostafa; Azarkeivan, Azita; Mohammadi, Zahra; Khashayar, Patricia; Keshtkar, Abbasali

    2015-01-01

    Objectives: Many Iranian studies have reported the high prevalence of osteoporosis and low bone mass in patients with thalassemia. Considering the importance of prevention in lowering the risk of osteoporosis and its complications in patients with thalassemia major (TM), the present study was conducted to assess the knowledge, attitude and preventive practice (KAP) of a group of TM patients regarding the importance of calcium and Vitamin D supplementation and its role in preventing osteoporos...

  19. Dental health and dental treatment needs in patients with thalassemia major

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    Marieh Honarmand

    2010-09-01

    Full Text Available Background: Patients with thalassemia major needs more dental care due to their medically compromised condition. The aim of this study was to evaluate the dental health and dental treatment needs of these patients at Zahedan university school of Dentistry in 2009.Materials and Method: In this descriptive-analytical study, 75 patients with thalassemia major were selected in which 42 boys and 33 girls with mean age of 10.79±6.2 referred to community dentistry center as the case group and 75 patients' relatives referred to Zahedan school of Dentistry as the control group. Two groups matched for age and sex. The studied variables were patient's educational level and their parents, dental caries and treatment needs. Statistical analysis was carried out by chi-squared test and t-test.Results: Thalassemic patient had increased average dental caries and missing (d=2.24, m=0.13, D=2.49, M=0.52 than the control group (d=2.13, m=0.05, D=0.97, M=0.35. Pulp therapy was the most needed treatment in patient group and in the other group filling dental caries was needed more. Conclusion: According to the high incidence of dental caries in patient with thalassemic major, effective preventive measures, health education and dental treatment are needed for this group.

  20. Marriage and child bearing in patients with transfusion-dependent thalassemia major.

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    Zafari, Mandana; Kosaryan, Mehrnoush

    2014-08-01

    With good care, patients with transfusion-dependent thalassemia major (TDTM) can reach older ages, marry and reproduce. This study was conducted by the Thalassemia Research Center. Medical notes of all TDTM patients and all non-transfusion-dependent thalassemia major (NTDTM) patients were reviewed from July to December 2012. Also, patients were interviewed. The questionnaire was made in consultation with research methodology experts and reliability was achieved by a pilot study of 12 patients, by the test-retest method (r = 0.9). Epidemiologic characteristics of patients and the pregnancy outcomes were recorded. Descriptive statistics were used with SPSS 17. Four hundred and nineteen medical records were reviewed. Three hundred and forty-five (82.5%) were TDTM. One hundred and seventy-five (50.7%) were female with a mean age of 25.4 ± 7.05 years and 42 (25%) had been married. Mean age of menarche and marriage was 15.4 ± 1.6 and 21.8 ± 4.5 years, respectively. Total number of live children is nine so far. Mode of delivery in female patients was cesarean section. Almost 78% of newborns weighed 2500-4000 g. Almost 22% of pregnancies were assisted. Male patients consisted of 170 (49.3%) and 55 (32.3%) of them had been married. Mean age at marriage was 24.27 ± 3.5 years. With better management, patients with TDTM can reach the age of reproduction. Medical teams should be prepared for this possibility. © 2014 The Authors. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.

  1. Side effects of Deferasirox Iron Chelation in Patients with Beta Thalassemia Major or Intermedia

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    Murtadha Al-Khabori

    2013-03-01

    Full Text Available Objectives: Chelating agents remain the mainstay in reducing the iron burden and extending patient survival in homozygous beta-thalassemia but adverse and toxic effects may increase with the institution and long term use of this essential therapy. This study aimed to estimate the incidence of deferasirox (DFX side effects in patients with thalassemia major or intermedia.Methods: A retrospective study of 72 patients (mean age: 20.3±0.9 yrs; 36 male, 36 female with thalassemia major or intermedia treated at Sultan Qaboos University Hospital, Oman, was performed to assess the incidence of side effects related to deferasirox over a mean of 16.7 month follow-up period.Results: Six patients experienced rashes and 6 had gastro-intestinal upset. DFX was discontinued in 18 patients for the following reasons: persistent progressive rise(s in serum creatinine (7 patients; 40% mean serum creatinine rise from baseline, feeling unwell (2, severe diarrhea (1, pregnancy (1, death unrelated to chelator (2 and rise in serum transaminases (2. Three patients were reverted to desferoxamine and deferiprone combination therapy as DFX was no longer biochemically effective after 18 months of therapy. There was no correlation between baseline serum ferritin and serum creatinine or a rise in serum creatinine. Cardiac MRI T2* did not change with DFX therapy. However, there was an improvement in liver MRI T2* (p=0.013.Conclusion: Renal side effects related to deferasirox appear to be higher than those reported in published clinical trials. Further larger studies are required to confirm these findings.

  2. Decrease of Hepatitis C Burden in Patients With Transfusion Dependent Beta Thalassemia Major, Thalassemia Research Center, 1995 – 2014

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    Mehrnoush Kosaryan

    2015-07-01

    Full Text Available Background: Chronic hepatitis C infection used to be one of the most important burdens on patients with transfusion-dependent beta thalassemia major (TDTM. Chronic active hepatitis reduces quality of life, and liver cirrhosis and cancer shorten life expectancy in many cases. Objectives: We compared the characteristics of our patients at the Thalassemia Research Center (TRC regarding hepatitis C infection at two time points. Patients and Methods: A review was conducted in a cohort of 390 TDTM patients with a history of at least one blood transfusion in 2014. Type of treatment protocol for hepatitis C virus (HCV and the number of courses were defined. Descriptive statistics were performed using SPSS software (V16. Results: Screening for HCV started in 1995 at the TRC. Seventy-seven (15% patients were antibody-positive in 1995. Tests for virus detection were not available at the time. Patients have been examined using serum AST, ALT, bilirubin, PT, PTT, and liver biopsy, and 45 were treated using alpha interferon alone. A second liver biopsy was performed at the end of treatment for 21 patients, and a blinded pathologist compared the histology according to the Knodell score. According to normalization of liver enzymes, the treatment was successful (McNemar test, P < 0.02. Based on the Knodell score, 54%, 31%, and 11% had complete, partial, and no response, respectively. A quantitative test for viremia became available thereafter. Thirteen patients who were resistant to alpha interferon have been treated using “Pegasys”™ ± ribavirin. Ten patients responded; however, three have been resistant and are still viremic. Twenty-seven patients received no treatment. Twenty-two (81.4% had negative PCR tests. Five viremic patients refused treatment. A second screening test for HCV antibody was introduced in 2001, and, since then, annual screening for HCV antibody has been performed for all patients. No new case has been found since 2001. During the

  3. Renal impairment in β thalassemia major patients receiving repeated blood transfusion

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    Riadi Wirawan

    2003-12-01

    Full Text Available Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin-top:0in; mso-para-margin-right:0in; mso-para-margin-bottom:10.0pt; mso-para-margin-left:0in; line-height:115%; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;} β-thalassemia major is a disease caused by β polypeptide chain synthesis disorder which is inherited in an autosomal recessive manner from both parents and which is marked by little or no β-globin chain synthesis. Treatment for β-thalassemia major patients is by giving repeated blood transfusions, which causes iron accumulation, leading to hemochromatosis. Iron accumulation can occur in various body organ, including the kidneys. The aim of this study was to investigate the existence of renal impairment in β-thalassemia major patients. The subjects of this study were β-thalassemia major patients aged 15 - 28 years old who had received 6 units of packed red cells or more within 6 months. In this study, urine and serum samples of the subjects were taken and examined. Assay of serum iron was performed with Hitachi 737. Results were that 94.7% patients showed an increase in transferrin saturation and 40% of them had hemochromatosis; 73.4% had microalbuminuria; 1.3% had albuminuria and 21.3% had increased urinary β2- microglobulin (β2-m. A total of 78.6% of patients showed renal impairment. Conclusion of this study suggested that

  4. [Beta thalassemia major in Argentina].

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    Torres, Feliu Aurora; Bonduel, Mariana; Sciuccati, Gabriela; del Pozo, Ana; Roldán, Ariel; Ciaccio, Marta; Orazi, Virginia; Fano, Virginia; Ozuna, Blanca; Lejarraga, Horacio; Muriel, Sackmann Federico

    2002-01-01

    An analysis of beta thalassemia major patients seen at Hospital Juan P. Garrahan was carried out in order to determine the characteristics and outcome of the population. From August 1987 to July 2000, 45 patients were admitted (27 males-18 females). The most common beta globin gene defects were C-39 (30.7%); IVS-I nt 110 (20%); IVS-I nt 6 (13.3%); IVS-I nt 1(4%). alpha globin genes were normal in 42 patients, 1 patient had triplicate and cuadriplicate alpha globin genes and 2 patients were not analyzed. Six patients of 5 families were heterozygous for -158G gamma mutation. Allogeneic stem cell transplantation was performed in 7 patients, with an identical sibling. Transfusion-related infections and alloantibodies were detected in 6.7% patients. Growth assessment showed no significant difference in the stature of girls compared to the reference population, but 5 boys had short stature. There is a tendency to short trunk. Growth velocity was normal at prepubertal age. No X-ray lesions related to desferrioxamine were observed. Delayed puberty and hypogonadotropic hypogonadism were found in 35.7% and abnormalities in GH/IGF-I axis in 12.5% of the patients. Impaired glucose tolerance was found in 2 patients. No patient developed diabetes mellitus, thyroid or adrenal insufficiency. One patient had cardiac complications. Forty-two patients are alive and 3 died (cardiac failure 1, central nervous system bleeding 1, sepsis 1). We conclude that beta thalassemia major, originated mainly from Italian immigrants, has a cumbersome treatment and is severely hindered by the lack of adequate economic resources in our patients.

  5. Consanguinity ratio in b-thalassemia major patients in District Bannu.

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    Khan, Muhammad Sadiq; Ahmed, Mushtaq; Khan, Rahmat Ali; Mushtaq, Nadia; Wasim Ullah Shah, Muhammad

    2015-11-01

    To assess the frequency of consanguinity in b-thalassemia major patients and its association with age, gender and hepatitis C virus antibody positivity. The cross-sectional study was conducted from June 2013 to July 2014 at various hospitals of district Bannu in the North Western Khyber Pakhtunkhwa province of Pakistan. Data was recorded on a predesigned questionnaire. Out of 180 subjects, 133(74%) parents were cousins, while 47(26%) were unrelated. The frequency of anti-hepatitis C virus antibody positivity was 14(7.77%). High prevalence of the disease in the study region was due to consanguineous marriages.

  6. The Correlation between Troponin and Ferritin Serum Levels in the Patients with Major Beta-Thalassemia

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    Iraj Shahramian

    2013-06-01

    Full Text Available Background: Thalassemia is a hereditary hemoglobinopathy whose most common complication is cardiac involvement which ends up in these patients’ death. Since troponin is a sensitive and specific marker for the detection of microinfarct, we studied the relationship between troponin and ferritin serum levels for early diagnosis of cardiac involvement in these patients. Materials and Methods: This case-control study was performed on 80 patients, including 40 patients with major thalassemia and normal echocardiography and 40 healthy volunteers ranging from 6 months to 16 years old. All the children were examined and the eligible children who were not infected with known heart disease, iron deficiency anemia, kidney disease, diabetes, fever, and systemic diseases were enrolled into the study after obtaining written informed consents from their parents. At 8:00 A.M. before breakfast, 5cc blood was drawn from these children. After collecting the samples, ferritin and troponin serum levels were evaluated using ELISA and electro- kymonolonsense methods, respectively. The gathered data were analyzed through the SPSS statistical software (v. 20 and T-test. Besides, P value<0.05 was considered as statistically significant. Results: The study results revealed a significant difference between the two groups regarding the mean of the serum levels of troponin (P=0.045 and ferritin (P=0.001. In this study, no significant correlation was observed between serum troponin and ferritin levels and age and BMI in the two groups. Also, no significant relationship was found between serum troponin level and sex (P=0.264. Conclusions: In microinfarct, troponin increases independent of ferritin; therefore, it can be used for early detection of cardiac involvement in thalassemia patients to determine the sub-clinical effects.

  7. Estimation of iron overloads using oral exfoliative cytology in beta-thalassemia major patients.

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    Leekha, Swati; Nayar, Amit Kumar; Bakshi, Preeti; Sharma, Aman; Parhar, Swati; Soni, Sugandhi

    2016-01-01

    Iron overload is a medical condition that occurs when too much of the mineral iron builds up inside the body and produces a toxic reaction. Thalassemia is a genetic disorder of hemoglobin synthesis, which requires regular blood transfusion therapy, and the lack of specific excretory pathways for iron in humans leads to iron overload in the body tissues. It is a major cause of morbidity and mortality in these patients. The estimation of iron levels in exfoliated buccal mucosal cells may provide a simple, noninvasive, and a safe procedure for estimating the iron overload by using the Perls' Prussian blue stain. Smears were obtained from buccal mucosa of 40 randomly selected beta-thalassemia major patients and 40 healthy subjects as controls. Smears were stained with Perls' Prussian blue method. Blood samples were taken for estimation of serum ferritin levels. Images of smears were analyzed using the software image J software version 1.47v and correlated with serum ferritin. Perls' positivity was observed in 87.5% of thalassemic patients with a positive correlation to serum ferritin levels. The use of exfoliative buccal mucosal cells for the evaluation of iron overloads in the body provides us with a diagnostic medium that is noninvasive, easy to collect, store, and transport, cost effective, and above all reliable.

  8. Estimation of iron overloads using oral exfoliative cytology in beta-thalassemia major patients

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    Swati Leekha

    2016-01-01

    Full Text Available Background: Iron overload is a medical condition that occurs when too much of the mineral iron builds up inside the body and produces a toxic reaction. Thalassemia is a genetic disorder of hemoglobin synthesis, which requires regular blood transfusion therapy, and the lack of specific excretory pathways for iron in humans leads to iron overload in the body tissues. It is a major cause of morbidity and mortality in these patients. The estimation of iron levels in exfoliated buccal mucosal cells may provide a simple, noninvasive, and a safe procedure for estimating the iron overload by using the Perls′ Prussian blue stain. Methods: Smears were obtained from buccal mucosa of 40 randomly selected beta-thalassemia major patients and 40 healthy subjects as controls. Smears were stained with Perls′ Prussian blue method. Blood samples were taken for estimation of serum ferritin levels. Images of smears were analyzed using the software image J software version 1.47v and correlated with serum ferritin. Results: Perls′ positivity was observed in 87.5% of thalassemic patients with a positive correlation to serum ferritin levels. Conclusion: The use of exfoliative buccal mucosal cells for the evaluation of iron overloads in the body provides us with a diagnostic medium that is noninvasive, easy to collect, store, and transport, cost effective, and above all reliable.

  9. Effects of blood transfusion on exercise capacity in thalassemia major patients.

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    Benedetto, Daniela; Rao, Carmelo Massimo; Cefalù, Claudia; Aguglia, Demetrio Oreste; Cattadori, Gaia; D'Ascola, Domenico Giuseppe; Benedetto, Frank Antonio; Agostoni, Piergiuseppe; Sciomer, Susanna

    2015-01-01

    Anemia has an important role in exercise performance. However, the direct link between rapid changes of hemoglobin and exercise performance is still unknown.To find out more on this topic, we studied 18 beta-thalassemia major patients free of relevant cardiac dysfunction (age 33.5±7.2 years,males = 10). Patients performed a maximal cardiopulmolmonary exercise test (cycloergometer, personalized ramp protocol, breath-by-breath measurements of expired gases) before and the day after blood transfusion (500 cc of red cell concentrates). After blood transfusion, hemoglobin increased from 10.5±0.8 g/dL to 12.1±1.2 (panaerobic threshold from 965 to 1024mL/min (pexercise or at anaerobic threshold. Similarly, no relevant changes were observed in ventilation efficiency, as evaluated by the ventilation vs. carbon dioxide production relationship, or in O2 delivery to the periphery as analyzed by the VO2 vs. workload relationship. The relationship between hemoglobin and VO2 changes showed, for each g/dL of hemoglobin increase, a VO2 increase = 82.5 mL/min and 35 mL/min, at peak exercise and at anaerobic threshold, respectively. In beta-thalassemia major patients, an acute albeit partial anemia correction by blood transfusion determinates a relevant increase of exercise performance, observed both at peak exercise and at anaerobic threshold.

  10. Assessment of thyroid function in two hundred patients with beta-thalassemia major.

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    Zervas, Athanasios; Katopodi, Anna; Protonotariou, Anthi; Livadas, Sarantis; Karagiorga, Markesia; Politis, Constantina; Tolis, George

    2002-02-01

    Despite improved hematologic care, multiendocrine dysfunction is a common complication of homozygous transfusion-dependent beta-thalassemia. In this study our goal was to estimate the prevalence of thyroid dysfunction in a large homogenous group of thalassemic patients. Two hundred patients with beta-thalassemia major (100 males and 100 females; mean age, 23.2 +/- 6.7 years; age range 11-43 years), regularly transfused and desferioxamine chelated, were randomly selected from a pool of approximately 800 patients with beta-thalassemia followed in our department. Thyroid function and iron-load status were evaluated by measurements of free thyroxine (FT4), free triiodothyronine (FT3), thyrotropin (TSH), and serum ferritin levels. Of the subgroup of patients who proved to have normal thyroid hormone values, 26 (12 males, 14 females; mean age, 23.6 +/- 6.8 years; age range, 15-36 years) were randomly selected and underwent a standard TRH stimulation test. Thyroid dysfunction was defined as follows: overt hypothyroidism: low FT4 and/or FT3, increased TSH levels; subclinical hypothyroidism: normal FT4, FT3, increased TSH levels; exaggerated TSH response: normal FT4, FT3, normal basal TSH, deltaTSH > or = 21 microIU/mL (TSH levels measured prior and 30 minutes after intravenous TRH administration). Normal thyroid hormone values were found in 167 (83.5%) of the 200 patients studied. Eight (4%) of the remaining patients had overt hypothyroidisim, and 25 (12.5%) had subclinical hypothyroidism. Exaggerated TSH response to TRH was revealed in 7 of the 26 patients with normal hormone values tested (26.9%). Antithyroglobulin and anti-thyroid peroxidase (TPO) antibody titers were negative in 191 patients (95.5%). Mean ferritin levels in hypothyroid and euthyroid patients were 2707.66 +/- 1990.5 mg/L and 2902.9 +/- 1997.3 mg/L, respectively, (p = 0.61), indicating no correlation between ferritin levels and thyroid functional status. Mean ferritin levels in the patients who responded

  11. [Long-term effects of combined therapy in patients with beta-thalassemia major].

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    Bagnulo, S; Giannini, A M; Moscatelli, F; Stragapede, L; Acquafredda, A; Dammacco, A

    1998-01-01

    We evaluated therapy complications in 19 beta-thalassemia major patients (mean age from 3 years/5 months and 1 years/6 months) who were followed at II Pediatric Department-University of Bari. 3 out of 19 patients underwent allogenic BMT from matched related donor; 2 out of 19 underwent splenectomy. All of them were receiving hypertransfusion therapy and continuous chelation with DFO. In all patients we performed physical examination, laboratory assays, cardiac and endocrinologic function tests, serum HBV-HCV-HIV antibodies, otoscopy and audiometric test, fundus oculi, skeletal x-ray. 1 out of 19 patients, who was under 15, had a slight dilatation of left ventricle and arythmia. All patients were HBsAb positive. 4/19 patients were HCV Ab positive (ELISA test) with an increase in ALT-AST serum levels since at least 6 months. In 3 of them we assessed RIBA test, always positive. 3 of them underwent liver biopsy (1 iron overload 2 chronic active hepatitis). All patients were HIV Ab negative. 4/15 patients revealed low GH levels after Arginina test. 13 pre-pubescent patients had normal results with GNRH test but lower results after FSH test. 1 pubescent patient had gonadotropic hypophyseal deficit. 4 patients had subclinic hypothiroidism. We couldn't find any sequelas in bone-eyes-ears. Hypertransfusion therapy, chelation, profilaxis of infections improved length and quality of life in thalassemic patients. Hypogonadotropic hypogonadism remains a serious sequela and we think it needs to be treated.

  12. Evaluation of Mental Health and Related Factors Among Patients with Beta-Thalassemia Major in South East of Iran

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    Morteza Ashrafi

    2012-04-01

    Full Text Available Objective: Beta-thalassemia major (β-TM is a chronic, genetic and hematological disorder. Children and teenagers with chronic physical illnesses exemplified by thalassemia are vulnerable to emotional and behavioral problems. The aim of this study was to evaluate mental health and its related factors among young patients with beta-thalassemia major. Methods: In this cross-sectional observational descriptive-analytic study, we studied 164 patients suffering from Beta-thalassemia major with age range of 15-24 years who referred for treatment to Ali Ebn-e Abitaleb (AS University Hospital in Zahedan, a city in South East of Iran, during 2009- 2010. The demographic data and pattern of mental health were collected by standard general health questionnaire (GHQ-28.Data was analyzed using statistical software SPSS (version 17.0; Student t test and Chi-square (χ2 were used. Results: In this study, 96 (58.5% patients were male; the mean age of all patients was 18.78 ±2.28. Based on data analysis, 83 patients (50.8% suspected to have psychiatric disorders (58.8% of girls, 44.8% of boys. In addition, frequency of somatic symptoms, depression disorder, anxiety disorder and social dysfunction in all patients were 7.3%, 11.6%, 8.5% and 4.3% respectively. In illiterate patients, 70.4% suspected to have psychiatric disorder. Except for somatic disorder, other mental disorders were more frequent in girls. No significant association was found between mental state and gender, marital and literacy status and occupation. Conclusion : In this study, due to high prevalence of psychological disorders in young patients with Beta-thalassemia major, especially in girls, we suggest implementing further educational psychological programs to decrease the frequency of disorders. Moreover, conducting more quantitative and comprehensive researches is suggested to evaluate specific effective factors in psycho-social health.

  13. Correlation between Heart, Liver and Pancreas Hemosiderosis Measured by MRI T2* among Thalassemia Major Patients from Iran.

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    Azarkeivan, Azita; Hashemieh, Mozhgan; Shirkavand, Afshan; Sheibani, Kourosh

    2016-02-01

    Major thalassemia patients need lifelong transfusions. The consequence of these repeated transfusions is iron accumulation in different organs. The main aim of the present study was to investigate the correlation between heart, liver and pancreas hemosiderosis in thalassemic patients from Iran. This cross-sectional study was conducted on 164 major thalassemia patients at Zafar Adult Thalassemia Center, a referral thalassemia center in Tehran, Iran, from May to November 2014.  All patients were on regular blood transfusion at 2-4 week intervals to keep their hemoglobin at a level of 7-9 gr/dL before each transfusion. Demographic data were gathered from patients' history. MRI T2* of liver, heart and pancreas were performed for all patients. There were a moderate correlation between pancreatic T2* and cardiac T2* relaxation times (r = 0.42, P < 0.001), a moderate correlation between T2* of pancreas and liver (r = 0.41, P < 0.001), and a weak correlation between T2* relaxation times of heart and liver (r = 0.31, P < 0.001). Poor correlation between liver and heart, as well as a weak to moderate correlation between pancreas and liver T2* relaxation times indicate that relying on liver MRI T2* to predict the exact condition of pancreas or heart iron overload might not be a reliable approach in thalassemia major patients. Our findings suggest the advantage of using pancreas and heart MRI T2* as a non-invasive method for estimation of iron overload instead of relying on liver MRI T2*.

  14. Craniofacial manifestations of β-thalassemia major.

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    Javid, Bahram; Said-Al-Naief, Nasser

    2015-01-01

    Hemoglobinopathies are by far the most common genetic diseases, affecting millions worldwide with a prevalence for natives of Iran, Southeast Asia, and the Caspian Sea, as part of the so-called Thalassemia Belt, and an overall incidence ranging approximately from 3 to 100 patients per 100,000 population. β-Thalassemia major is of particular significance, providing bad outcomes despite aggressive therapeutic approaches. We report a case of β-thalassemia in a 5-year-old Persian boy who presented with classical diagnostic features of the disease and who did not survive despite an aggressive management approach. A review of the clinical, radiographic, laboratory, and therapeutic characteristics as well as diagnostic tests of this disease is also presented. The multifactorial challenges that face clinicians in the management of this serious disease are also reviewed. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. Pulsed and Tissue Doppler Echocardiographic Changes in Patients with Thalassemia Major

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    Taysir S. Garadah

    2010-01-01

    Full Text Available Background Doppler echocardiographic studies of left ventricle (LV systolic and diastolic function in patients with β-Thalassemia Major (β-TM had shown different patterns of systolic and diastolic dysfunction. Aim This cross-sectional study was designed to study the LV systolic and diastolic function in patients with β-TM using Pulsed Doppler (PD and Tissue Doppler (TD echocardiography. Methods All patients were evaluated clinically and by echocardiography, The study included patients with β-TM (n = 38, age 15.7 ± 8.9 years compared with an age-matched control group (n = 38, age 15.9 ± 8.9 years. The pulse Doppler indices were normalized for age and heart rate. Results Compared with control patients, M-Mode showed that patients with β-TM have thicker LV septal wall index (0.659 ± 0.23 vs. 0.446 ± 0.219 cm, P ≤ 0.001, posterior wall index (0.659 ± 0.235 vs. 0.437 ± 0.214 cm, P ≤ 0.01, and larger LVEDD index is (3.99 ± 0.48 vs. 2.170 ± 0.57 mm. P = 0.035. Pulsed Doppler showed high LV trans-mitral E wave velocity (70.818 ± 10.139 vs. 57.532 ± 10.139, p = 0.027 and E/A ratio (1.54 vs. 1.23, P ≤ 0.01. The duration of Deceleration time (DT and isovolumic relaxation time (IVRT were significantly shorter in patients with β-TM (150.234 ± 20.0.23 vs. 167.123 ± 19.143 msec, P ≤ 0.01 and (60.647 ± 6.77 vs. 75.474 ± 5.83 msec, P ≤ 0.001, respectively. The ratio of transmitral E wave velocity to the tissue Doppler E wave at the basal septal mitral annulus E/Em – was significantly higher in β-TM group (14.024 ± 2.29 vs. 12.132 ± 1.82, P ≤ 0.01. The Tissue Doppler systolic velocity (Sm and the early diastolic velocity (Em were significantly lower in β-TM group compared to control (4.31 ± 1.2 cm/s vs. 6.95 ± 2.1, P ≤ 0.01 and 4.31 ± 2.7 cm/s vs. 5.82 ± 2.5, P ≤ 0.01 respectively. The tricuspid valve velocity was significantly higher than controls (2.993 ± 0.569 vs. 1.93 ± 0.471 m/sec, respectively, P ≤ 0

  16. Health-related Quality of Life and Associated Factors Among Thalassemia Major Patients, Southeast of Iran.

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    Bazi, Ali; Sargazi-Aval, Omolbanin; Safa, Amin; Miri-Moghaddam, Ebrahim

    2017-10-01

    Low quality of life (QOL) is a feature that has been overlooked in thalassemia major (TM) patients. Our aim was to assess QOL in school-aged TM patients in Zabol city and surrounding rural areas in southeast of Iran. The study was performed in 2014. QOL was evaluated using Pediatric Quality of Life Inventory 4 (PedsQL4) questionnaire addressing physical, emotional, social, and educational, along with psychological health in 80 TM patients. Also, 80 age-matched and sex-matched subjects without any chronic illness served as control group. Mean age of the patients was 11.7±4.1 years old. Total QOL scores was 51.4±13.3 in the patients. In comparison, mean value of total QOL score in controls was 91.1±3.3 (P75 scores). Overall, female sex, poor compliance with chelation therapy, and residency in urban areas were significantly associated with poor QOL. In conclusion, providing a psychiatric health package seems to be essential for improving QOL in TM patients, especially in social field.

  17. Causes for hospitalization and death in Iranian patients with β-thalassemia major.

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    Bazrgar, Masood; Peiravian, Farah; Abedpour, Fatemeh; Karimi, Mehran

    2011-03-01

    There are limited studies that have focused on the causes for hospitalization as an indicator of morbidity in patients with β-thalassemia major (BTM). A cross-sectional study was conducted to determine the main causes for hospitalization and death in hospitalized BTM patients in a referral hospital in Shiraz, southern Iran. During a 5-year period, 555 BTM patients were admitted to the hospital, of which 390 (67.7%) were 10 to 20 years of age. The most frequent causes for hospitalization were splenectomy (23%), heart failure (22.6%), liver biopsy (22.2%), uncontrolled diabetes (10.9%), arrhythmia (7.2%), cholecystectomy (3.8%), hypoparathyroidism (2.1%), and sepsis (2%). Of the hospitalized patients, 65 (11%), with a mean age of 16.1 ± 4.2 years, died. The most common causes of death were cardiomyopathy (72.3%), infections (17%), malignancies (3.1%), and cerebrovascular accidents (3.1%). Survival of our patients was less than in developed countries and cardiac complications were the most common cause of mortality and morbidity in these patients. Regarding the key role of iron chelation in prevention of different complications in BTM, correction of iron chelation regimen should be well considered.

  18. Renal tubular dysfunction in pediatric patients with beta-thalassemia major

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    Ali Ahmadzadeh

    2011-01-01

    Full Text Available To evaluate the prevalence of renal tubular dysfunction in children with β-thalassemia (β-T major, we studied the glomerular and tubular function in 140 children with β-T major and compared them to a healthy control group at our center from May 2007 to April 2008. Fresh first morning samples were collected from each patient and analyzed for sodium, potassium, calcium (Ca, protein, uric acid (UA, creatinine (Cr, urine osmolality and urinary N-acetyl-β-D-glucosaminidase (UNAG activity. Blood samples were also collected for complete blood count, blood urea nitrogen (BUN, fasting blood sugar, serum creatinine (SCr, electrolytes, and ferritin before transfusion. Among the study patients, 72 were males, and the mean age was 11.5 (ranging 7-16 years. SCr levels were all within normal limits and all of them had normal glomerular filtration rate (GFR. The mean UNAG was 17.8 IU/L in the study patients (normal 0.15-11.5 IU/L and 3.2 IU/L in the control group (P 0.21 (P = 0.006. Nine (6.4% thalassemic patients with a mean age of 12 years had proteinuria (Upr/UCr > 0.2. Sixty-nine (49.3% out of the 140 patients and 45 (65.2% of the patients having UNAG had uricosuria also (UUA/UCr > 0.26. Ten (7% patients had microscopic hematuria and 10 (7% patients with a mean age of 13.5 years had glucosuria or diabetes mellitus. We conclude that tubular dysfunction is a relative common complication of the β-T major; UNAG and its index are the best to detect renal tubular dysfunction in these patients. Currently, periodic measurement of UCa/UCr and UUA/UCr ratios as well as urinalysis are recommended.

  19. A study on the radiographic features of jaws and teeth in patients with thalassemia major using orthopantomograph

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    Neera Ohri

    2015-01-01

    Full Text Available Aims and Objectives: Thalassemia is the most common gene disorder caused by mutations that decrease the rate of synthesis of α- or β-globin chains. Every year approximately 100,000 children with thalassemia major are born the world over, of which 10,000 are born in India. This study aimed to compare the radiographic findings of jaws and teeth, as well as crown body and root lengths of the mandibular first permanent molar in thalassemia major patients. Materials and Methods: Panoramic radiographs of 50 thalassemia major patients and 50 controls were made. The radiological changes in the jaws and teeth and the dimensional changes in the teeth were evaluated and compared between the two groups. Two observers were involved in evaluating the specific changes and findings were subjected to statistical analysis using chi-square test (χ2 test. Differences in crown body height, root length, and crown:root (C:R ratio were found using independent t-test. Results: A significant difference was found between the two groups in the occurrence of short spiky roots, taurodontism, faint lamina dura, large bone marrow spaces, obliteration of maxillary sinus (haziness, indistinct inferior alveolar canal, thin mandibular cortex (P < 0.001, nutrient canals (P < 0.02, and between mean crown body and root values of the two groups (P < 0.05. However, there was no statistically significant difference in prominent antegonial notch (P = 0.860 and C:R ratio (P = 0.989. Conclusion: Taurodonts, short spiky roots, thin mandibular cortex, enlarged bone marrow spaces, and obliterated maxillary sinuses were found to occur with high frequency in thalassemia major, followed by indistinct inferior alveolar canal and attenuated lamina dura.

  20. Cross-talk between available guidelines for the management of patients with beta-thalassemia major.

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    Musallam, Khaled M; Angastiniotis, Michael; Eleftheriou, Androulla; Porter, John B

    2013-01-01

    Efforts to optimize the management of patients with β-thalassemia major (TM) continue to expand. Evidence from biomedical research evaluating safe and careful processing measures of blood products, the efficacy and safety of oral iron chelators, and noninvasive techniques for the assessment of iron overload are translated into better patient outcomes. The construction of TM management guidelines facilitated the incorporation of such evidence into practice. However, as several aspects of the management of TM remain controversial or governed by resource availability, a concern regarding potential variations in recommendations made by the different guidelines becomes rational, especially for physicians treating TM patients outside countries where the guidelines were constructed. In this work, we overview currently available guidelines for the management of TM and explore apparent similarities and differences between them. The evaluated guidelines included the Thalassaemia International Federation, US, Canadian, UK, Italian and Australian guidelines. We noted a general consensus for most aspects of management, although some guidelines provided more comprehensive and contemporary recommendations than others. We did not identify differences warranting concern, although minor differences in iron overload assessment strategy and more notable variations in the recommendations for iron chelation therapy were observed. Copyright © 2013 S. Karger AG, Basel.

  1. [Oromaxillofacial changes in thalassemia major].

    Science.gov (United States)

    De Mattia, D; Pettini, P L; Sabato, V; Rubini, G; Laforgia, A; Schettini, F

    1996-01-01

    Sixty patients (31 male and 29 female) with thalassemia major, aged between 6 and 26 years, 18 of which were splenectomized, were observed in this study evaluating the oro-maxillo-facial alterations and correlating them to transfusion indexes, serum ferritin levels, splenectomy and age. For each patient a haematologic and odontostomatologic card was filed with a view to report the medical and clinical history regarding: the haematologic picture, the prevention of caries and parodontal disease, the facies characteristics, the odonto-stomatologic examination, the orthodontic diagnosis, the skull X-rays and the orthopantomography. Poor oral hygiene as well as misknowledge of prevention were generally observed. All the patients showed carious lesions but most of them had never seen a dentist for therapy. The disharmonious growth of splanchnocranium, with the enlargement of the jaw and of its alveolar process, induced by the bone marrow hyperplasia, produced various and serious malocclusion stages (Angle's II class, deep bite, open bite), gnathologic alterations, hypodiaphanous paranasal sinuses and orbital hypertelorism, with a typical oriental-like facies. Malocclusion and the poor oral hygienic conditions determined the occurrence of marginal gingivitis, mainly localized at the level of the lower frontal teeth. In only 3 patients the oral mucous membrane was pale and atrophic. During this investigation agenesia and dental retention were reported in 30% and in 26% of the examined cases respectively, while no patients had supernumerary teeth. Tooth volume, position and shape abnormalities rarely occurred. Only in two patients was enamel hypoplasia described. The caries frequency greatly varied in number and in degree. Only five patients did not show any carious lesions. The caries index (DMF) for the permanent teeth calculated in all the 60 subjects was 5, 12 +/- 4.76. By utilizing Spearman's rank test the number of teeth with caries in the permanent dentition (DFM

  2. Resolution of alloimmunization and refractory autoimmune hemolytic anemia in a multi-transfused beta-thalassemia major patient

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    Joseph Philip

    2014-01-01

    Full Text Available Beta-thalassemia is one of the most prevalent autosomal disorders, which affect more than 400,000 newborn per year worldwide. In India, the carrier rate of beta-thalassemia varies from 3-17%. The overall rate of alloimmunization in thalassemia patients has been reported to be 5-30% in the world, which is mostly contributed by the alloimmunization to minor blood group antigen. Among Asians, the incidence of red cell alloimmunization is 22%. The recommended treatment for beta-thalassemia major is regular blood transfusion every 3 to 4 weeks. The development of anti-red cell antibodies (alloantibodies and/or autoantibodies can significantly complicate transfusion therapy. Alloantibodies are commonly associated with red cell hemolysis. Red cell autoantibodies appear less frequently, but they can result in clinical hemolysis called autoimmune hemolytic anemia (AIHA, and in difficulty in cross-matching blood. Patients with autoantibodies may have a higher transfusion rate and often require immunosuppressive drugs or alternative treatments including intravenous immunoglobulin (IVIg and rituximab (anti-CD20 monoclonal antibody.

  3. Resolution of alloimmunization and refractory autoimmune hemolytic anemia in a multi-transfused beta-thalassemia major patient.

    Science.gov (United States)

    Philip, Joseph; Jain, Neelesh

    2014-07-01

    Beta-thalassemia is one of the most prevalent autosomal disorders, which affect more than 400,000 newborn per year worldwide. In India, the carrier rate of beta-thalassemia varies from 3-17%. The overall rate of alloimmunization in thalassemia patients has been reported to be 5-30% in the world, which is mostly contributed by the alloimmunization to minor blood group antigen. Among Asians, the incidence of red cell alloimmunization is 22%. The recommended treatment for beta-thalassemia major is regular blood transfusion every 3 to 4 weeks. The development of anti-red cell antibodies (alloantibodies and/or autoantibodies) can significantly complicate transfusion therapy. Alloantibodies are commonly associated with red cell hemolysis. Red cell autoantibodies appear less frequently, but they can result in clinical hemolysis called autoimmune hemolytic anemia (AIHA), and in difficulty in cross-matching blood. Patients with autoantibodies may have a higher transfusion rate and often require immunosuppressive drugs or alternative treatments including intravenous immunoglobulin (IVIg) and rituximab (anti-CD20 monoclonal antibody).

  4. Prevalence and Risk Factor of Pulmonary Hypertension in Patients with Thalassemia Major of Ilam/ West of Iran in 2014

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    Milad Azami

    2017-01-01

    Full Text Available Pulmonary arterial hypertension (PAH is a progressive disease with high morbidity and mortality rates. Research has shown that PAH has a prevalence rate of 10-79% in thalassemia major patients. This cross-sectional study was carried out in 2014 to determine the prevalence and risk factors of PAH in all thalassemia major patients of over 18 years of age in Ilam, Iran. A cardiologist measured systolic pulmonary artery pressure (SPAP by using Doppler echocardiography. SPAP of higher than 25 mm Hg was defined as PAH criterion. The obtained data was analyzed using SPSS, version 17. Of the 36 studied patients, 17 (47.2% were male and 19 (52.8% were female. The mean age of the patients was 26.0±5.6 years. The prevalence of PAH in the thalassemia major patients was estimated to be 47.2% and the mean SPAP was determined to be 26.2±14.6 mm Hg. Among the examined PAH risk factors, only the history of pulmonary disease (0.02 and transfusion (0.03 was found to be significant.

  5. Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population.

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    Shahid, Saba; Nadeem, Muhammad; Zahid, Danish; Hassan, Jawad; Ansari, Saqib; Shamsi, Tahir

    2017-01-01

    Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -α3.7 with a frequency of 8.3%, and the rare forms were -α4.2 (0.2%) and αααanti3.7 (0.9%). In our study, diagnosis of severe anemia cases without any α and β mutations or deletions were made by using extended alpha thalassemia deletions panel. The main objective of this study was to determine the prevalence and to study the spectra of alpha thalassemia gene deletions in beta thalassemia patients with the use of an extended panel including --SEA, --FIL, --MED, --20.5, --THAI in addition to -α3.7, -α4.2 & -αααanti3.7. The samples were collected in ethylenediaminetetraacetic acid (EDTA) vacutainers. A total of 156 samples were analyzed for alpha thalassemia mutations. This cohort included 121 samples of beta thalassemia major, nine samples of beta thalassemia minor and 26 without any evidence of beta thalassemia mutations. DNA was extracted with Qiagen extraction kit. The primers for determination of different subsets of alpha thalassemia deletions were included. PCR amplification was performed and result interpreted on agarose gel. Co-inheritance of alpha thalassemia (-α3.7, -α4.2) with homozygous beta thalassemia was detected in 30% cases of studied cohort (37 out of 121). The most common found was -α3.7 deletion (35/37) as single/double deletions or in combination with -αααanti3.7. In undiagnosed cases screened for beta thalassemia major, we found Mediterranean (-αMED) deletion at specifically 875 bp on agarose gel. This is distinctive finding in case of detecting -αMED instead of any other deletion from Pakistan. Alpha thalassemia deletions (-α3.7, -α4

  6. Economic Burden of Thalassemia Major in Iran, 2015.

    Science.gov (United States)

    Esmaeilzadeh, Firooz; Azarkeivan, Azita; Emamgholipour, Sara; Akbari Sari, Ali; Yaseri, Mehdi; Ahmadi, Batoul; Ghaffari, Mohtasham

    2016-01-01

    Major Thalassemia is an autosomal recessive disease with complications, mortality and serious pathology. Today, the life expectancy of patients with major thalassemia has increased along with therapeutic advances. Therefore, they need lifelong care, and caring for them would incur many costs. Being aware of the patients' costs can be effective for controlling and managing the costs and providing efficient treatments for the care of patients. Hence, this study was conducted to estimate the economic burden of the patients with major thalassemia. Totally, 198 patients with major thalassemia were randomly selected from among the patients with major thalassemia in Tehran, Iran in 2015. The economic burden of the patients was estimated from a social perspective and through a bottom-up, prevalence-based approach. The average annual cost per patient was estimated $ 8321.8 regardless of the cost of lost welfare. Of this amount, $ 7286.8 was related to direct medical costs, $ 461.4 to direct non-medical costs, and $ 573.5 to indirect costs. In addition, the annual cost per patient was estimated $ 1360.5 due to the distress caused by the disease CONCLUSIONS: Considering the high costs of the treatment of patients with major thalassemia, adopting new policies to reduce the costs that patients have to pay seems necessary. In addition, making new decisions regarding thalassemia screening, even with higher costs than the usual screening costs, can be useful since the costs of treatment are high.

  7. Serological study on parvovirus B19 infection in multitransfused thalassemia major patients and its transmission through donor units

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    Kishore Janak

    2011-01-01

    Full Text Available Background: Human parvovirus B19 (B19 virus is a newly recognized agent for transfusion transmitted diseases. Beta-thalassemia major patients receive a hypertransfusion regimen, hence, are prone to acquire B19 infection; moreover, B19 escapes viral inactivation methods and donor units are not tested for B19, but there are just a couple of studies globally and none from the Asian continent. Hence, a study was designed to find the frequency of B19 infection and its transmission in multitransfused thalassemia patients. Materials and Methods: Ninety multitransfused beta-thalassemia major (thalassemia patients, 32 controls (age, sex matched without any history of transfusion were enrolled. Besides the donor units were tested in B19 un-infected patients. B19 specific IgG and IgM antibodies in the sera were analyzed by ELISA (in-house, using B19 VPI and VP2 recombinant and purified antigens; additionally HBsAg and anti-HIV and anti-HCV antibodies were tested for coexisting infections. Results: Seventy-three (81% thalassemia patients tested positive for anti-B19 IgG antibodies as compared to seven (21% in the controls group (P < 0.01, while anti-B19 IgM antibodies were detected in 37 (41.1% compared to two (6.2% in the controls (P < 0.01. Mean age of the thalassemia patient was eight years (range 2 - 18 years and B19 infection was highest in the six-to-ten year range. Seropositivity increased with the number of transfusions. Two of the four HBsAg positive and five of the seven anti-HCV IgM antibody-positive patients also had anti-B19 IgM. After a six-month follow-up, four (25% of the 16 seronegative patients seroconverted and anti-B19 IgM antibodies were detected in their donor units. Conclusions: Most of multitransfused thalassemics were B19 seropositive or had anti-B19 IgM; in the remaining uninfected group, B19 got transmitted through infected / IgM-positive donor units.

  8. Circulating osteoprotegerin and receptor activator of NF-kappaB ligand system in patients with beta-thalassemia major.

    Science.gov (United States)

    Angelopoulos, Nicholas G; Goula, Anastasia; Katounda, Eugenia; Rombopoulos, Grigorios; Kaltzidou, Victoria; Kaltsas, Dimitrios; Malaktari, Sophia; Athanasiou, Vassilis; Tolis, George

    2007-01-01

    Osteoporosis represents an important cause of morbidity in patients with beta-thalassemia major, and its etiology is multifactorial. Thus, the aim of this study was to characterize the possible role of the osteoprotegerin (OPG) and receptor activator of the NF-kappaB ligand (RANKL) system in thalassemia-related bone loss. Serum concentrations of OPG, soluble RANKL (s-RANKL), markers of bone turnover, and lumbar spine bone mineral density (BMD) were measured in random samples of males (n = 29; mean age +/- SEM, 24.26 +/- 1.29 years; range, 13-41 years) and females (n = 31; age, 24.59 +/- 0.95 years; range, 12-34 years) with beta-thalassemia major and in 30 healthy age-, height-, and weight-matched subjects. Thalassemic patients had significantly lower levels of OPG compared with controls (2.54 +/- 0.12 vs. 3.25 +/- 0.122, respectively; P < 0.05) and higher, albeit not statistically significantly, serum levels of s-RANKL (0.350 +/- 0.03 vs. 0.295 +/- 0.046, respectively; P < 0.05). s-RANKL correlated negatively with age (r = -0.3, P < 0.05), and OPG correlated positively with the duration of the interval between the onset of transfusions and chelation therapy (r = 0.52, P < 0.001). Regarding markers of bone metabolism, plasma values of osteocalcin correlated positively with s-RANKL (r = 0.40, P < 0.05) and negatively with OPG/s-RANKL ratio (r = -0.55, P < 0.01). In multiple regression analysis only cross-linked N-teleopeptide of type I collagen (NTX) significantly accounted for BMD. Although the OPG/RANKL system may have some clinical usefulness as a marker of bone turnover in beta-thalassemia, conventional markers of bone turnover more accurately represent changes in the BMD of these patients.

  9. Right ventricular volumes and function in thalassemia major patients in the absence of myocardial iron overload

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    Porter John B

    2010-04-01

    Full Text Available Abstract Aim We aimed to define reference ranges for right ventricular (RV volumes, ejection fraction (EF in thalassemia major patients (TM without myocardial iron overload. Methods and results RV volumes, EF and mass were measured in 80 TM patients who had no myocardial iron overload (myocardial T2* > 20 ms by cardiovascular magnetic resonance. All patients were receiving deferoxamine chelation and none had evidence of pulmonary hypertension or other cardiovascular comorbidity. Forty age and sex matched healthy non-anemic volunteers acted as controls. The mean RV EF was higher in TM patients than controls (males 66.2 ± 4.1% vs 61.6 ± 6%, p = 0.0009; females 66.3 ± 5.1% vs 62.6 ± 6.4%, p = 0.017, which yielded a raised lower threshold of normality for RV EF in TM patients (males 58.0% vs 50.0% and females 56.4% vs 50.1%. RV end-diastolic volume index was higher in male TM patients (mean 98.1 ± 17.3 mL vs 88.4 ± 11.2 mL/m2, p = 0.027, with a higher upper limit (132 vs 110 mL/m2 but this difference was of borderline significance for females (mean 86.5 ± 13.6 mL vs 80.3 ± 12.8 mL/m2, p = 0.09, with upper limit of 113 vs 105 mL/m2. The cardiac index was raised in TM patients (males 4.8 ± 1.0 L/min vs 3.4 ± 0.7 L/min, p Conclusion The normal ranges for functional RV parameters in TM patients with no evidence of myocardial iron overload differ from healthy non-anemic controls. The new reference RV ranges are important for determining the functional effects of myocardial iron overload in TM patients.

  10. Myocardial iron loading in patients with thalassemia major in Turkey and the potential role of splenectomy in myocardial siderosis.

    Science.gov (United States)

    Aydinok, Yesim; Bayraktaroglu, Selen; Yildiz, Dilek; Alper, Hudaver

    2011-07-01

    Iron-induced cardiac disease is the leading cause of death in thalassemia major (TM). Splenectomy is performed in TM to reduce transfusion requirements and iron intake. Prevalence of myocardial siderosis and its relationship with splenectomy in 146 patients with TM were investigated. The patients with myocardial siderosis (T2*<20 ms) accounted for 42% of the cohort. Splenectomized patients had a higher incidence of myocardial siderosis (48%) compared with those having intact spleen (28%) and significantly higher myocardial iron content. Higher myocardial iron content in splenectomized patients may deserve special attention for the role of spleen in iron regulation.

  11. Buccal Mucosa Exfoliative Cell Prussian Blue Stain Co-Relates with Iron Overload in β-Thalassemia Major Patients.

    Science.gov (United States)

    Gajaria, Pooja K; Maheshwari, Ujwala M; Borkar, D B; Dhar, Reeta; Pancholi, Varsha

    2017-12-01

    Thalassemics require regular blood transfusion therapy leading to iron overload in the body tissues, which is a major cause of morbidity and mortality in these patients. We hereby attempted to measure this iron overload by means of exfoliative cytology, a non-invasive and inexpensive technique. The aims and objectives of our study were: 1. To detect iron overload by oral exfoliative cytology using Perl's Prussian blue stain in β-thalassemia major patients. 2. To correlate staining positivity with serum ferritin levels. Smears were obtained from buccal mucosa of 50 β-thalassemia major patients (who had taken more than 12 transfusions) and 25 healthy subjects of the same age group as controls. Smears were stained with Perl's Prussian blue. Blood samples were taken from the study group for estimation of serum ferritin levels. Grading criteria were defined for assessing the Prussian blue positivity. Perl's positivity was observed in 49 out of 50 of thalassemic patients (98%). 1 patient had Grade 0, 7 patients had Grade I, 5 had Grade II, 12 had Grade III, 14 had Grade IV while 11 patients had Grade V positivity. Spearman Rank's Correlation Co-efficient was 0.38, signifying a weak positive correlation between positivity of buccal smears for Perl's Prussian blue staining and respective serum ferritin levels. Perl's Prussian blue staining of exfoliated cells from buccal mucosa can be used to assess iron overload in β-thalassemia major patients, as a screening as well as diagnostic tool. With the grading system we can give a semi-quantitative assessment of the same.

  12. Predicting future blood demand from thalassemia major patients in Hong Kong.

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    Eric H Y Lau

    Full Text Available BACKGROUND: In Hong Kong, thalassemia major (TM patients utilized up to 9.5% of blood supply in 2009. For long-term management of blood supply, we predicted the future blood demand of TM patients for the next 10 years. METHODS AND RESULTS: Annual individual transfusion data in 2005-2009 and demographic information of 381 TM patients were obtained from the Hong Kong Red Cross Blood Transfusion Service database. A generalized estimating equation (GEE model was fitted to establish the potential relations of blood demand with age, sex, body weight, year of transfusion and splenectomy, accounted for within-patient correlation. The fitted model was used to predict future blood demand for the existing patients by accounting for expected change in body weight and mortality rate. We also predicted the number of new cases in the future based on age- and sex-specific TM incidence and official population projections. Future blood demand was predicted by combining blood demand from the existing and new patients. Female (RR = 0.94, p = 0.006 and history of splenectomy (RR = 0.85, p<0.001 were significantly associated with lower blood demand, while age and weight had an inverted U-shape relation with maximal blood demand at around 24 years of age and 71.8 kg, respectively. We predicted that the total blood demand would increase 0.81% annually from 13,459 units in 2009 to 15,183 units in 2024, with new TM cases accounting for 31.7% of the overall blood demand in 2024. CONCLUSIONS: Our results showed that future annual blood demand from TM patients would steadily increase in the next 10 years. Reducing incidence of TM cases in the future (by improving public education, antenatal care, prenatal diagnosis and minimizing blood use among existing TM cases (e.g. with hemopoietic stem cell transplantation can help relieve the burden on management of future blood demand.

  13. Cataract Formation due to use of Deferiprone in a Patient with Thalassemia Major

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    Barbaros sahin Karagun

    2015-03-01

    Full Text Available Thalassemias are a heterogeneous group of autosomal recessive diseases characterized by hypochromic microcytic anemia and occur as a result of defective synthesis of one or more hemoglobin chains. In patients, life-threatening clinical manifestations may occur because of severe iron overload due to frequent blood transfusions. Ocular changes in patients with thalassemia are to be encountered depending on the disease itself or chelator used in the treatment, but not very often. These changes are usually cataracts, optic neuropathy, retinal pigment epithelium (RPE degeneration, RPE mottling, retinal venous tortuosity, vitreoretinal hemorrhages and obliteration of the iris pattern. Desferrioxamine that is used as the first iron-binding chelating has well-known complications such as optic neuropathy and retinal toxicity. However, Deferiprone that used more common recently has replaced the Desferrioxamine but, there is very little information in the literature about the ocular toxicity of deferiprone. In this case report, we have reported a patient with deferiprone-induced cataract formation in order to draw attention to a little-known complication of the drug. [Cukurova Med J 2015; 40(Suppl 1: 112-116

  14. Evaluating the Correlation between Serum NT-proBNP Level and Diastolic Dysfunction Severity in Beta-Thalassemia Major Patients

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    Behzad Alizadeh

    2016-10-01

    Full Text Available Background: N-terminal pro-brain natriuretic peptide (NT-proBNP is a sensitive biomarker for the detection of asymptomatic left ventricular (LV dysfunction. Since β-thalassemia major patients suffer from early diastolic dysfunction due to iron deposition of chronic blood transfusion, we tried to evaluate the correlation between the serum NT-proBNP level and the severity of LV diastolic dysfunction determined by echocardiography in these patients. Methods: Fifty β-thalassemia major patients with normal LV systolic function were studied by tissue Doppler echocardiography, and blood samples were taken at the same time to measure the serum NT-proBNP level. Using flow velocity through the mitral valve on the tissue velocity of the mitral annulus in early ventricular filling (E/E' as an LV diastolic function indicator, the patients were divided into 3 groups: group 1 no diastolic dysfunction (E/E' < 8, group 2 suspected diastolic dysfunction (E/E' = 8-15, and group 3 documented diastolic dysfunction (E/E' >15. Other variables assessed included sex, age, method of chelator therapy, and mean hemoglobin and ferritin levels for the past 2 years.Results: According to the echocardiographic findings of all the 50 patients (29 male and 21 female with an age range of 11-35 years (mean = 17.98 y, 46% were classified in group 1, 54% in group 2, and none in group 3. The NT-proBNP level was 1070 ± 566 ng/mL in group 1 and 974 ± 515 ng/mL in group 2. The t-test showed no significant difference between groups 1 and 2 in the NT-proBNP level (p value = 0.536. Conclusions: Due to specific conditions in thalassemia major patients, the correlation between the serum NT-proBNP level and the severity of diastolic dysfunction seems to be not meaningful.

  15. Pituitary gland height evaluated by MR in patients with {beta}-thalassemia major: a marker of pituitary gland function

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    Argyropoulou, M.I.; Metafratzi, Z.; Efremidis, S.C. [Dept. of Radiology, Univ. of Ioannina (Greece); Kiortsis, D.N. [Dept. of Physiology, Univ. of Ioannina (Greece); Bitsis, S.; Tsatoulis, A. [Dept. of Internal Medicine, Univ. of Ioannina (Greece)

    2001-12-01

    In transfusion-dependent {beta}-thalassemia major, increased iron deposition in the pituitary gland has a cytotoxic effect leading mainly to hypogonadotropic hypogonadism. Our purpose was to assess in these patients the height of the pituitary gland and to evaluate whether it represents a marker of pituitary gland function. In 29 patients with {beta}-thalassemia major and 35 age- and gender-matched controls the pituitary gland height was evaluated in a midline sagittal scan using a spin echo T1-weighted (500/20 TR/TE) sequence. In all patients, an extensive endocrine evaluation was performed, including measurements of spontaneous and stimulated levels of gonadotropins, thyroid hormones, growth hormone, insulin-like growth factor, and adrenal hormones. The pituitary gland height was lower in thalassemic patients with hypogonadotropic hypogonadism (n=15) (mean 3.48; SD 0.46) than in the age- and gender-matched controls (mean 6.29; SD 0.77), (P<0.001). No statistically significant difference was found between thalassemic patients without hormone dysfunction (n=14) (mean 5.34; SD 1.52) and age- and gender-matched controls (mean 5.91; SD 1.06). We conclude that in thalassemic patients the pituitary gland height is an additional marker of pituitary gland function and might be useful in clinical management. (orig.)

  16. Cost-utility of chelators in transfusion-dependent β-thalassemia major patients: a review of the pharmacoeconomic literature.

    Science.gov (United States)

    Lee, Todd A; von Riedemann, Sarah; Tricta, Fernando

    2014-10-01

    In the inherited hematologic disorder β-thalassemia major, patients receive regular, lifelong blood transfusions, which carry excess iron that the body is unable to eliminate. Chelation therapy (deferoxamine, deferiprone, deferasirox or deferoxamine-deferiprone combination) is required to reduce iron accumulation in target organs and the associated morbidity and mortality. Each chelation regimen has a distinct safety/efficacy profile and particular costs associated with its use. This review aims to provide an overview of published cost-utility analyses of currently used chelation regimens, and to comment on the potential relevance of their findings in the USA market, where deferiprone has recently been introduced.

  17. Quality of Life in Thalassemia Major Patients: Reliability and Validity of Indonesian Version of TranQol Questionnaire

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    Billy Ng Setiawan Rachmat Poengoet

    2017-09-01

    Full Text Available Objective: To determine the validity and reliability of TranQol questionnaire that has been translated into Indonesian to be used in Indonesian thalassemia major patients. The quality of life problems among these patients can be detected earlier because TranQol is more precise compared to the Pediatric Quality of Life Inventory (PedsQLTM, World Health Organization Quality of Life Instruments (WHOQOL, and SF-36 Questionaire. Methods: This study was conducted in Bandung, Indonesia from October 2015 to March 2016 and used a standard “forward-backward” translation procedure. It involved 60 adults and 73 children who are thalassemia major patients, and 71 parents of patients in Dr. Hasan Sadikin General Hospital. TranQol was processed through forward and backward translation approach and evaluation was conducted by the TranQol author. After the translation process, a cognitive debriefing was performed and the translated TranQol was tested to all subjects. Results: Cronbach’s alpha >0.7 was used for all TranQol categories. Front validity and content validity testing was performed. The internal validity results showed that some questions were not valid. Conclusions: TranQol reliability in Indonesian language for every category is good. Validity for TranQol in Indonesian language shows that the translated TranQol is not quite suitable that it still cannot be used.

  18. Longitudinal study on thyroid function in patients with thalassemia major: High incidence of central hypothyroidism by 18 years

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    Ashraf T Soliman

    2013-01-01

    Full Text Available Introduction: Primary hypothyroidism is one of the most frequent complications observed in-patients suffering from thalassemia. We investigated and reviewed the thyroid function in all thalassemic patients attending the Pediatric Endocrine Clinic of Hamad Medical Center, Doha, Qatar during the last 10 years of follow-up. Patients and Methods: A total of 48 patients with ί-thalassemia major between 5 years and 18 years of age. Thyroid dysfunction was defined as follows: Overt hypothyroidism (low Free thyroxine [FT4] and increased thyroid-stimulating hormone [TSH] levels >5 μIU/ml; subclinical hypothyroidism (normal FT4, TSH between 5 μIU/ml and 10 μIU/ml and central (secondary hypothyroidism (low FT4 and normal or decreased TSH. Results: A total of 48 patients (22 males and 26 females completed a 12 year-period of follow-up. During this period, hypothyroidism was diagnosed in 17/48 (35% of patients. There was no significant difference in the prevalence in males 7/22 (32% versus females 10/26 (38%. Sixteen of the patients had hypothyroidism after the age of 10 years (94%. The prevalence of overt hypothyroidism had risen from 0% at the age of 7 years to 35% at the age of 18 years. None of the patients had high anti-thyroperoxidase antibody titers. Out of 17 patients, 13 patients with hypothyroidism had normal or low TSH level (not appropriately elevated indicative of defective hypothalamic pituitary response to low FT4 (central hypothyroidism. Three patients (6.3% had subclinical hypothyroidism (TSH between 5 uIU/ml and 10 uIU/ml and normal FT4. The general trend of FT4 level showed progressive decrease over the 12 years, whereas, TSH levels did not show a corresponding increase. These data suggested defective hypothalamic pituitary thyroid axis involving both TSH and FT4 sretion in patients with thalassemia major over time. There was a significant negative correlation between serum ferritin and FT4 (r = −0.39, P = 0.007, but no correlation

  19. Correction of β‐thalassemia major by gene transfer in haematopoietic progenitors of pediatric patients

    National Research Council Canada - National Science Library

    Roselli, Emanuela Anna; Mezzadra, Riccardo; Frittoli, Marta Claudia; Maruggi, Giulietta; Biral, Erika; Mavilio, Fulvio; Mastropietro, Fabrizio; Amato, Antonio; Tonon, Giovanni; Refaldi, Chiara; Cappellini, Maria Domenica; Andreani, Marco; Lucarelli, Guido; Roncarolo, Maria Grazia; Marktel, Sarah; Ferrari, Giuliana

    2010-01-01

    β‐Thalassemia is a common monogenic disorder due to mutations in the β‐globin gene and gene therapy, based on autologous transplantation of genetically corrected haematopoietic stem cells (HSCs...

  20. A comparative study of partial vs total splenectomy in thalassemia major patients

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    Bahador Ali

    2007-01-01

    Full Text Available Background : In this study, we show the advantages of partial splenectomy (PS over total splenectomy (TS regarding the chances of overwhelming postsplenectomy sepsis (OPSI. Materials and Methods: From February 1991 to December 1999, 143 cases of β-thalassemia underwent PS. 1/3, 1/4 of the splenic tissue was preserved. One hundred and ten cases were followed for an average of 5 years. None of the patients received vaccination or prophylactic antibiotics. Pre- and postoperative hematological profiles, IgM levels, recurrence of hypersplenism and septic episodes were compared among the data of 60 cases TS; all these cases have been operated in the same hospital. Results: Hematological profile significantly increased and transfusion requirement approximately reduced to three-fold. After 3 years, 22.7% in PS and 13.3% in TS groups required the same amount of preoperative transfusion. After 5 years, these percentages were 27.3 and 18.3%, respectively. Two patients in PS and six in TS group developed signs of sepsis. Conclusion : Vaccination or prophylactic antibiotics are not necessary after PS. The risk of sepsis in PS without antibiotics is less than that in TS with antibiotics, and resplenectomy after PS is not associated with serious complications.

  1. Sequential alternating deferiprone and deferoxamine treatment compared to deferiprone monotherapy: main findings and clinical follow-up of a large multicenter randomized clinical trial in -thalassemia major patients

    DEFF Research Database (Denmark)

    Pantalone, Gaetano Restivo; Maggio, Aurelio; Vitrano, Angela

    2011-01-01

    In β-thalassemia major (β-TM) patients, iron chelation therapy is mandatory to reduce iron overload secondary to transfusions. Recommended first line treatment is deferoxamine (DFO) from the age of 2 and second line treatment after the age of 6 is deferiprone (L1). A multicenter randomized open...... thalassemia patients were randomized and underwent intention-to-treat analysis. Statistically, a decrease of serum ferritin level was significantly higher in alternating sequential L1-DFO patients compared with L1 alone patients (p = 0.005). Kaplan-Meier survival analysis for the two chelation treatments did...

  2. "Evaluation Of compliance To Iron Chelation Therapy With Defe-Roxamine In Patients With Major Thalassemia In Iran In 2004 "

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    M. Izadyar

    2006-06-01

    Full Text Available Background and Aim: With the introduction of long term subcutaneous administration of Deferoxamine there has been a decline in the morbidity and mortality of transfusion-dependent beta thalassemia patients. But parenteral iron chelation therapy is still a burden and a major reason for unsatisfactory compliance and places an additional psychological burden on the patients. There are some factors contributing to low compliance in these patients. To evaluate compliance to Deferoxamine and barriers of non adherence and assessment the prevalence of depression and it’s association with compliance. Materials and Methods: 205 patients with major thalassemia in children medical center older than 6 years old were included. They were classified in 3 groups by compliance index (CI: No. of days of treatment per one month/No. of treatment days prescribed by physician. CI>75 % was considered good ,CI< 50-75%: moderate,CI<50%:weak and 3d group the patients without compliance. For assessment of depression: Beck Depression questionnaires were given to the patients older than 18 years old and Children Depression Inventories (CDI“kovacs” were given to the rest Results: Of 205 patients (110 females (54% and 95 males (46%, 13.3% were non compliant, 14% had poor compliance, 62.7% had good compliance. Females were more compliant than males (P=0.034. Compliance improved in older age groups meaningfully (P=0.037. There was negative association between compliance and serum ferritin level (P=0.02. 22% of children and 12% of Adults had severe depression according to the questionnaires. There was no association between compliance and depression. The most prevalent problem rgarding Desferal injection was local reactions in injection site (83%. Conclusion: As oral chelation therapies are not used routinely, more investigations regarding the noncompliance must be considered; and this method of chelation therapy must be encouraged. Compliance is a multifactorial problem

  3. Haplotypes and levels of fetal hemoglobin and G gamma to A gamma ratios in Mediterranean patients with thalassemia minor and major.

    Science.gov (United States)

    Aksoy, M; Kutlar, A; Efremov, G D; Nikolov, N; Petkov, G; Reese, A L; Harano, T; Chen, S S; Huisman, T H

    1985-09-01

    This study concerned the gamma chain composition of Hb F and the haplotypes of 44 patients with beta-thalassemia major or intermedia and many of their relatives. Seventeen patients came from Northern (Turkish) Cyprus, 12 from the Istanbul area, and 15 from Macedonia and Bulgaria. Analysis of the A gamma T-G gamma-A gamma I ratio was made by HPLC, while haplotyping involved seven restriction sites. Specific haplotypes were present in certain populations; haplotype I [1] is the dominant type among North Cypriot thalassemia patients. Numerous types were seen in the patients from the Balkan countries. A direct relationship between the A gamma to G gamma ratios and the haplotypes, which exists among black beta-thalassemia heterozygotes [3], was also observed among these Mediterranean patients, although such analyses were considerably complicated by extensive blood transfusion therapy. Haplotypes without the Hinc II restriction site within the psi beta gene were associated with lower G gamma values than those that had this polymorphic site. The A gamma T chain was observed in a small number of beta-thalassemia homozygotes and heterozygotes. Three thalassemia chromosomes with slightly different haplotypes and one normal chromosome with a related haplotype were associated with the gamma 75 Ile----Thr substitution. A few patients with a thalassemia intermedia were heterozygotes for beta-thalassemia with either haplotypes V or VII [1] while the "nonthalassemic" chromosome had a haplotype I, which is the most common "beta-thalassemic" haplotype among the Mediterranean population(s). Detailed analyses of this chromosome have not been completed.

  4. Renal functions in pediatric patients with beta-thalassemia major: relation to chelation therapy: original prospective study

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    ElMelegy Nagla T

    2010-05-01

    Full Text Available Abstract Background In β-thalassemia, profound anemia and severe hemosiderosis cause functional and physiological abnormalities in various organ systems. In recent years, there have been few published studies mainly in adult demonstrating renal involvement in β-thalassemia. This prospective study was aimed to investigate renal involvement in pediatric patients with transfusion dependant beta-thalassemia major (TD-βTM, using both conventional and early markers of glomerular and tubular dysfunctions, and to correlate findings to oxidative stress and iron chelation therapy. Methods Sixty-nine TD-βTM patients (aged 1-16 years and 15 healthy controls (aged 3-14 years were enrolled in this study. Based on receiving chelation therapy (deferoxamine, DFO, patients were divided into two groups: group [I] with chelation (n = 34 and group [II] without chelation (n = 35. Levels of creatinine (Cr, calcium (Ca, inorganic phosphorus (PO4, uric acid (UA and albumin were measured by spectrophotometer. Serum (S levels of cystatin-C (SCysC and total antioxidant capacity (STAC and urinary (U levels of β2-microglobulin (Uβ2MG were measured by immunosorbent assay (ELISA. Urinary N-acetyl-beta-D-glucosaminidase (UNAG activity and malondialdehyde (UMDA were measured by chemical methods. Estimated glomerular filtration rate (eGFR was determined from serum creatinine. Results In patient with and without chelation, glomerular [elevated SCysC, SCr, Ualbumin/Cr and diminished eGFR]; and tubular dysfunctions [elevated SUA, SPO4, UNAG/Cr, Uβ2MG/Cr] and oxidative stress marker disturbances [diminished STAC and elevated UMDA/Cr] were reported than controls. In patients with chelation, SCysC was significantly higher while, STAC was significantly lower than those without chelation. In all patients, SCysC showed significant positive correlation with SCr and negative correlation with eGFR; STAC showed significant positive correlation with eGFR and negative correlation with

  5. Parathyroid hormone in pediatric patients with β-thalassemia major ...

    African Journals Online (AJOL)

    Mostafa El-Nashar

    2016-04-09

    Apr 9, 2016 ... Abstract Background: Thalassemia syndromes are heterogeneous groups of inherited anemias. Its treatment depends on recurrent blood transfusion with a problem of iron overload, which leads to multiple endocrinopathies including hypoparathyroid. The aim of the study is to estimate the level of serum ...

  6. Full chimerism in nonmyeloablative stem cell transplantation in a beta-thalassemia major patient (class 3 Lucarelli).

    Science.gov (United States)

    Hongeng, S; Chuansumrit, A; Hathirat, P; Rerkamnuaychoke, B; Chaisiripoomkere, W; Jootar, S

    2002-09-01

    Bone marrow transplantation is the only therapeutic option that can eliminate thalassemic disease. Early results indicated that children in class 3 Lucarelli had a much worse outcome because of high nonrejection mortality and high rejection rate. We therefore tried to investigate a nonmyeloablative stem cell transplantation (NST) approach for such a disease in order to reduce mortality and rejection. We report here the case of successful NST in a 10-year-old girl who had class 3 Lucarelli beta-thalassemia major. The conditioning regimen consisted of busulfan, fludarabine, antilymphocyte globulin and total lymphoid irradiation. Her GVHD prophylaxis included mycophenolate mofetil and cyclosporin. The patient had full donor engraftment without acute and chronic GVHD. She is now alive and well and remains disease-free 1 year after transplant.

  7. Anti-Thyroid Peroxidase Antibodies and Male Gender Are Associated with Diabetes Occurrence in Patients with Beta-Thalassemia Major

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    Giovanni M. Pes

    2016-01-01

    Full Text Available Background. Intensive transfusion schedule and iron-chelating therapy prolonged and improved quality of life in patients with β-thalassemia (β-T major. However, this led to an increased risk of developing impaired glucose tolerance or diabetes. In this study we analyzed variables associated with the occurrence of impaired glucose tolerance or diabetes in patients with β-T major. Methods. 388 Sardinian patients were included. Age, gender, duration of chelation therapy, body mass index, and markers of pancreatic and extrapancreatic autoimmunity were analyzed. Results. Multiple logistic regression analysis showed that anti-thyroid peroxidase (TPO antibodies (Ab (OR = 3.36; p=0.008 and male gender (OR = 1.98; p=0.025 were significantly associated with glucose impairment, while the other variables were not. Ferritin levels were significantly higher in TPOAb positive compared to TPOAb negative patients (4870 ± 1665 μg/L versus 2922 ± 2773 μg/L; p<0.0001. Conclusions. In patients with β-T major a progressive damage of insulin-producing cells due to secondary hemosiderosis appears to be the most reasonable mechanism associated with glucose metabolism disorders. The findings need to be confirmed with additional well designed studies to address the question of whether TPOAb may have a role in the management of these patients.

  8. Atypical femoral fracture in a beta-thalassemia major patient with previous bisphosphonate use: case report and a review of the literature

    OpenAIRE

    Lampropoulou-Adamidou, K.; Tournis, S.; Triantafyllopoulos, I.K.

    2016-01-01

    There are numerous studies presenting the beneficial effect of bisphosphonates (BPs) on bone disease of patients suffering from beta-thalassemia major (TM). Although BPs have been widely used, adverse events have been described including atypical femoral fractures (AFF). In the present case, a male adult patient suffering from TM sustained an AFF fulfilling all major and two minor criteria. Before AFF, the patient had been treated with zoledronic acid for three years and remained another one ...

  9. Evaluation of Humoral Immunity, Cellular Immunity and Phagocytosis in Peripheral Blood of Major Thalassemia Patients Refered to Ahvaz Shafa Hospital

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    M. Ghafourian Boroujerdnia

    2011-10-01

    Full Text Available Introduction & Objective: Thalassemia is the most common genetic disorders in the world. These disorders are common in the Middle Estern countries containing Iran. It seems that factors like splenectomy, iron overload, frequent contacts with antigens during blood transfusion & using chelating agents cause severe disturbances to immune system. This study is done to evaluate the immune status in thalasemic patients refered to Ahvaz Shafa Hospital. Materials & Methods: This case- control study was done on 40 major thalassemic patients who had not the history of frequent bacterial and viral infections, splenectomy, using immunosuppressive drugs& patients with hepatitis, diabetes or other chronic diseases. Control group contained 31 healthy persons. Peripheral blood samples were collected from all participants. The last CBC and serum ferritin was taken from patient files. NBT test, evaluation of CD4, CD8, CD5 , CD20 markers with flowcytometry, and assessment of IgG, IgM, and IgA levels with nephlometry method carried out on peripheral blood samples of patient and control groups. Results: The percent of CD4, CD8 and CD5 markers and CD4/CD8 ratio had no significant difference between case & control groups. The percent of CD20 marker, and IgG , IgM & IgA levels were significantly higher in case group in comparison with control group. NBT test in all case and control groups were normal. There was no significant difference in serum ferritin, WBC count and percentage of lymphocytes and neutrophils among two groups. Conclusion: In major thalassemia patients, cellular immunity and phagocytosis are similar to normal individuals. CD4, CD8 and CD5 positive lymphocytes and CD4/CD8 ratio showed no difference between patients and normal groups. CD20 positive lymphocytes and IgM, IgG & IgA levels in patient group were significantly higher than normal control group. This can’t be due to viral or recurrent infections, because these patients were excluded from our

  10. Report on patients with non transfusion-dependent β-thalassemia major being treated with hydroxyurea attending the Thalassemia Research Center, Sari, Mazandaran Province, Islamic Republic of Iran in 2013.

    Science.gov (United States)

    Kosaryan, Mehrnoush; Karami, Hossein; Zafari, Mandana; Yaghobi, Negar

    2014-01-01

    Hydroxyurea (HU) has been used to treat patients with non transfusion-dependent β-thalassemia major (β-TM) at the Thalassemia Research Center, Sari, Mazandaran Province, Islamic Republic of Iran since 1996. This study was performed to summarize and to share our experience. Medical records of all patients with β-thalassemia (β-thal) attending our center were reviewed in January 2013. Definition of β-TM was based on complete blood count (CBC), hemoglobin (Hb) electrophoresis, and for some patients, by the amplification refractory mutation system-restriction fragment length polymorphism (ARMS-RFLP) method. Patients who had not been transfused before, or had only occasionally had blood transfusions, were selected. Age at first blood transfusion, initial HU therapy and time of study was extracted from the records. The lowest Hb level before using HU and the last Hb value when on the HU regimen as well as the difference, were reported. Number of saved packed red cells was calculated according to duration of HU use and the usual needs of the patients. Hydroxyurea was discontinued before a planned pregnancy and during gestation and lactation periods. Hydroxyurea was discontinued for male patients willing to reproduce. A p value of <0.05 was considered statistically significant. It was consistent with 1856 patients/year, and 3542 units of blood were saved. We found HU to be effective and safe in treating patients with non transfusion-dependent β-TM. We strongly recommend HU therapy.

  11. Atypical femoral fracture in a beta-thalassemia major patient with previous bisphosphonate use: case report and a review of the literature.

    Science.gov (United States)

    Lampropoulou-Adamidou, K; Tournis, S; Triantafyllopoulos, I K

    2016-03-01

    There are numerous studies presenting the beneficial effect of bisphosphonates (BPs) on bone disease of patients suffering from beta-thalassemia major (TM). Although BPs have been widely used, adverse events have been described including atypical femoral fractures (AFF). In the present case, a male adult patient suffering from TM sustained an AFF fulfilling all major and two minor criteria. Before AFF, the patient had been treated with zoledronic acid for three years and remained another one year without osteoporosis therapy. To our knowledge, this is the first reported case of AFF in a patient suffering from TM, probably due to the small sample size of patients with thalassemia. The purpose of the present case is to increase the awareness amongst haematologists, who mainly deal with TM patients, of the adverse events of BP use.

  12. Improving adherence with deferoxamine regimen in thalassemia major using education

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    Gholamreza Pouladfar

    2006-02-01

    Full Text Available Background: Subcutaneous deferoxamine is the first line for management of iron overload in thalassemia major. There is a wide deferoxamine adherence variation in patients with thalassemia major. In order to assess the effect of education on patients and their parents, a cognitive approach was used. Methods: In a randomized control trial, 78 consecutive patients with thalassemia major were randomly divided into educational (38 cases, 50% male and 50% female and control (40 cases, 65% male and 35% female groups. Oral and practical education sessions for deferoxamine injection were planned. Deferoxamine usage, pump function, side effects, knowledge levels of the patients and their parents, and ferritin serum levels were assessed before and after the trail. The knowledge was also evaluated promptly after educational sessions. Results: the mean age of experimental and control groups were 14.6 and 13.0 years, respectively. There was no significant difference in age, sex and weight (P>0.05 at the end of the study, there was no significant change in the level of knowledge in both groups however, the patients who used deferoxamine at least 5 times a week were increased in the experimental group (P0.001. Conclusion: A cognitive approach had relatively significant effect on deferoxamine adherence. However, educational sessions had not dramatic change in knowledge levels of the patients and their parents, but oral and practical education produced a significant change in decreasing local side effects of subcutaneous deferoxamine in thalassemia major.

  13. Awareness among Parents of β-Thalassemia Major Patients Regarding Prenatal Diagnosis and Premarital Screening in Day Care Centre of Transfusion Medicine Department.

    Science.gov (United States)

    Rudra, S; Chakrabarty, P; Hossain, M A; Ripon, M J; Rudra, M; Mirza, T T

    2016-01-01

    Thalassemia is one of the most common genetic diseases in the world. It is a major health problem, brings much morbidity, early mortality and a great deal of misery for a family both financially and emotionally. The patients suffering from beta thalassemia major do not survive for more than 5 years without blood transfusion. Blood transfusion is usually administered every two to five weeks to maintain the pre-transfusion hemoglobin level of 9-10 gm/dL. This study carried out in the department of Transfusion Medicine of Mymensingh Medical College Hospital from January 2014 to June 2014. A total of 200 parents were interviewed. There was a slight preponderance of females which accounted for 57.5% of the parents. Ninety seven (45.5%) had an income less than Rs. 5000 per month. Nearly 50% were illiterate with only 24.5% with a higher education. Consanguinity was positive in 72.5% of the parents with extended family history of thalassemia positive in 40.8%. Only 29.5% were immunized against Hepatitis B. Around 27.5% did not know whether they should be immunized. Fifty five percent of parents knew children should receive Dysferol. Twelve percent were aware of consanguinity to be a risk factor for thalassaemia with only 5% having undergone antenatal diagnosis. Parental knowledge about thalassemia and its preventive measures is inadequate; this requires intervention in the form of public health education programs concentrating on high risk/targeted population.

  14. Liver fibrosis alleviation after co-transplantation of hematopoietic stem cells with mesenchymal stem cells in patients with thalassemia major.

    Science.gov (United States)

    Ghavamzadeh, Ardeshir; Sotoudeh, Masoud; Hashemi Taheri, Amir Pejman; Alimoghaddam, Kamran; Pashaiefar, Hossein; Jalili, Mahdi; Shahi, Farhad; Jahani, Mohammad; Yaghmaie, Marjan

    2018-02-01

    The aims of this study are to determine the replacement rate of damaged hepatocytes by donor-derived cells in sex-mismatched recipient patients with thalassemia major and to determine whether co-transplantation of mesenchymal stem cells and hematopoietic stem cells (HSCs) can alleviate liver fibrosis. Ten sex-mismatched donor-recipient pairs who received co-transplantation of HSCs with mesenchymal stem cells were included in our study. Liver biopsy was performed before transplantation. Two other liver biopsies were performed between 2 and 5 years after transplantation. The specimens were studied for the presence of donor-derived epithelial cells or hepatocytes using fluorescence in situ hybridization by X- and Y-centromeric probes and immunohistochemical staining for pancytokeratin, CD45, and a hepatocyte-specific antigen. All sex-mismatched tissue samples demonstrated donor-derived hepatocyte independent of donor gender. XY-positive epithelial cells or hepatocytes accounted for 11 to 25% of the cells in histologic sections of female recipients in the first follow-up. It rose to 47-95% in the second follow-up. Although not statistically significant, four out of ten patients showed signs of improvement in liver fibrosis. Our results showed that co-transplantation of HSC with mesenchymal stem cells increases the rate of replacement of recipient hepatocytes by donor-derived cells and may improve liver fibrosis.

  15. The pro-BNP Serum Level and Echocardiographic Tissue Doppler Abnormalities in Patients with Beta Thalassemia Major.

    Science.gov (United States)

    Garadah, Taysir S; Mahdi, Najat; Kassab, Salah; Shoroqi, Isa Al; Abu-Taleb, Ahmed; Jamsheer, Anwer

    2010-12-20

    Doppler echocardiographic studies of the left ventricle (LV) function in patients with β-Thalassemia Major (β-TM) had shown different patterns of systolic and diastolic dysfunctions associated with abnormal serum brain natriuretic peptide (BNP). This cross-sectional study was designed to study the LV systolic and diastolic functions and correlate that with serum level of N-terminal pro brain natriuretic hormone (NT- pro BNP) in patients with β-TM using Pulsed Doppler (PD) and Tissue Doppler (TD) echocardiography. The study was conducted on patients with β-TM (n = 38, age 15.7 ± 8.9 years) and compared with an age-matched controls (n = 38, age 15.9 ± 8.9 years). In all participants, PD and TD echocardiography were performed and blood samples were withdrawn for measuring the serum level of NT-pro BNP, ferritin, and alanine transaminase. Patients with β-TM compared with controls, have thicker LV septal wall index (0.65 ± 0.26 vs. 0.44 ± 0.21 cm, P pro-BNP in β-TM was significantly higher compared with controls (37.6 ± 14.73 vs. 5.5 ± 5.4pg/ml, P pro BNP that is positively correlated with the E/Em ratio on tissue Doppler. Furthermore, we confirm our previous findings that patients with β-TM exhibit LV diastolic pattern on echocardiogram suggestive of restrictive type with well preserved left ventricle systolic function.

  16. Combination therapy - deferasirox and deferoxamine - in thalassemia major patients in emerging countries with limited resources.

    Science.gov (United States)

    Arandi, N; Haghpanah, S; Safaei, S; Zahedi, Z; Ashrafi, A; Eatemadfar, P; Zarei, T; Radwan, A H; Taher, A T; Karimi, M

    2015-02-01

    The problem of iron-overload observed in thalassemia patients can be overcome using chelating agents such as deferiprone (Ferroprox(®) ), deferasirox (Exjade(®) ) and deferoxamine (Desferal(®) ). Although these drugs can be used as monotherapy, combined therapy, especially deferiprone with deferoxamine, has led to promising outcomes in various studies. In this quasi-experimental study, serum ferritin levels were evaluated in 32 β-thalassemia major patients with severe iron overload before and after receiving combined deferasirox (30-40 mg kg(-1)  day(-1) ) and deferoxamine (40-50 mg kg(-1)  day(-1) ) 2 days a week. This study was conducted from September 2012 to September 2013 in Southern Iran. The mean of serum ferritin levels significantly reduced from 4031 ± 1955 to 2416 ± 1653 ng mL(-1) after 12 months of therapy (P < 0·001). Echocardiograph findings showed significant improvement 1year after end of the study (P < 0·001). No drug toxicity was observed by monitoring serum creatinine, liver enzymes and blood urea nitrogen (BUN) during the study period. We observed no correlation between mean serum ferritin change and age (P = 0·87). In addition, the mean serum ferritin change did not differ between male and female thalassemia patients (P = 0·454). No difference in mean serum ferritin change was observed between patients who had undergone splenectomy compared to those who had not done so (P = 0·307). The study suggests that combination chelating therapy with deferasirox and deferoxamine can effectively reduce iron burden in β-thalassemia major patients with heavy iron overload without any significant complications. © 2015 British Blood Transfusion Society.

  17. Thalassemia

    Science.gov (United States)

    ... if their spleen has been removed. Slow growth . Children with anemia may grow slowly and have late puberty. Puberty ... by three missing genes or gene changes. Your child may have anemia or develop more serious complications. Alpha thalassemia major , ...

  18. LONGITUDINAL STUDY ON LIVER FUNCTIONS IN PATIENTS WITH THALASSEMIA MAJOR BEFORE AND AFTER DEFERASIROX (DFX THERAPY

    Directory of Open Access Journals (Sweden)

    Ashraf Tawfik Soliman

    2014-04-01

    Conclusions: Some impairment of liver function can occur in hepatitis negative BMT patients with iron overload. The use of DFX was associated with mild but significant reduction of ALT, AST and ALP and increase in IGF-I levels. The negative correlation between IGF-I and ALT concentrations suggest that preventing hepatic dysfunction may improve the growth potential in these patients.

  19. Demonstration of iron in exfoliated buccal cells of β-thalassemia major patients

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    Atul A Bhat

    2013-01-01

    Conclusion: Oral exfoliative cytology can be a useful tool in demonstration of iron overload in thalassemic patients, however, further research in this field in the direction of quantification of these procedures is required, which can establish this non-invasive procedure as an ideal screening tool.

  20. Costs, quality of life, treatment satisfaction and compliance in patients with beta-thalassemia major undergoing iron chelation therapy: the ITHACA study.

    Science.gov (United States)

    Scalone, Luciana; Mantovani, Lorenzo G; Krol, Marieke; Rofail, Diana; Ravera, Simona; Bisconte, Maria Grazia; Borgna-Pignatti, Caterina; Borsellino, Zelia; Cianciulli, Paolo; Gallisai, Domenico; Prossomariti, Luciano; Stefàno, Ippazio; Cappellini, Maria D

    2008-07-01

    Iron chelation treatment (ICT) in beta-thalassemia major (beta-TM) patients undergoing blood transfusions can cause low satisfaction, low compliance, with possible negative consequences on treatment success, patients' wellbeing, and costs. The purpose was to estimate the societal burden attributable to beta-TM in terms of direct and indirect costs, health-related quality-of-life (HRQoL), satisfaction and compliance with ICT in patients undergoing transfusions and ICT. The naturalistic, multicenter, longitudinal Italian-THAlassemia-Cost-&-Outcomes-Assessment (ITHACA) cost-of-illness study was conducted involving patients of any age, on ICT for at least 3 years, who were enrolled at 8 Italian Thalassemia Care Centers. Costs were estimated from the societal perspective, quantified with tariffs, prices, or net earnings valid in 2006. One-hundred and thirty-seven patients were enrolled (median age = 28.3, 3-48 years, 49.6% male) and retrospectively observed for a median of 11.6 months. Mean direct costs were euro1242/patient/month, 55.5% attributable to ICT, 33.2% attributable to transfusions. Relevant quantity and quality of productivity was lost. Both physical and mental components of HRQoL were compromised. Little difficulties remembering to take ICT and positive satisfaction with the perceived effectiveness of therapy were declared, but not good levels of satisfaction with acceptance, perception of side effects and burden of ICT. The management of beta-TM patients undergoing transfusions and ICT is efficacious, although costly, but overall benefits were not always perceived as optimal by patients. Efforts must be focused to improve patients' acceptance and satisfaction with their therapy; this would contribute to a better compliance and hence an increase in treatment effectiveness and patients' overall wellbeing, with expected improved allocation of human and economic resources.

  1. Myocardial and liver iron overload, assessed using T2* magnetic resonance imaging with an excel spreadsheet for post processing in Tunisian thalassemia major patients.

    Science.gov (United States)

    Ouederni, Monia; Ben Khaled, Monia; Mellouli, Fethi; Ben Fraj, Elhem; Dhouib, Nawel; Yakoub, Ismehen Ben; Abbes, Selem; Mnif, Nejla; Bejaoui, Mohamed

    2017-01-01

    Thalassemia is a common genetic disorder in Tunisia. Early iron concentration assessment is a crucial and challenging issue. Most of annual deaths due to iron overload occurred in underdeveloped regions of the world. Limited access to liver and heart MRI monitoring might partially explain these poor prognostic results. Standard software programs are not available in Tunisia. This study is the first to evaluate iron overload in heart and liver using the MRI T2* with excel spreadsheet for post processing. Association of this MRI tool results to serum ferritin level, and echocardiography was also investigated. One hundred Tunisian-transfused thalassemia patients older than 10 years (16.1 ± 5.2) were enrolled in the study. The mean myocardial iron concentration (MIC) was 1.26 ± 1.65 mg/g dw (0.06-8.32). Cardiac T2* (CT2*) was under 20 ms in 30 % of patients and under 10 ms in 21 % of patients. Left ventricular ejection function was significantly lower in patients with CT2* 3 mg/g dw) was found in 95 % of patients. LIC was over 15 mg/g dw in 25 % of patients. MIC was more correlated than CT2* to LIC and serum ferritin. Among patients with SF excel spreadsheet for routine follow-up of iron overload might improve the prognosis of thalassemia major patients in developing countries, such as Tunisia, where standard MRI tools are not available or expensive.

  2. Serum ferritin levels, socio-demographic factors and desferrioxamine therapy in multi-transfused thalassemia major patients at a government tertiary care hospital of Karachi, Pakistan

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    Rehman Anis

    2011-08-01

    Full Text Available Abstract Background Beta thalassemia is the most frequent genetic disorder of haemoglobin synthesis in Pakistan. Recurrent transfusions lead to iron-overload manifested by increased serum Ferritin levels, for which chelation therapy is required. Findings The study was conducted in the Pediatric Emergency unit of Civil Hospital Karachi after ethical approval by the Institutional Review Board of Dow University of Health Sciences. Seventy nine cases of beta thalassemia major were included after a written consent. The care takers were interviewed for the socio-demographic variables and the use of Desferrioxamine therapy, after which a blood sample was drawn to assess the serum Ferritin level. SPSS 15.0 was employed for data entry and analysis. Of the seventy-nine patients included in the study, 46 (58.2% were males while 33 (41.8% were females. The mean age was 10.8 (± 4.5 years with the dominant age group (46.2% being 10 to 14 years. In 62 (78.8% cases, the care taker education was below the tenth grade. The mean serum Ferritin level in our study were 4236.5 ng/ml and showed a directly proportional relationship with age. Desferrioxamine was used by patients in 46 (58.2% cases with monthly house hold income significant factor to the use of therapy. Conclusions The mean serum Ferritin levels are approximately ten times higher than the normal recommended levels for normal individuals, with two-fifths of the patients not receiving iron chelation therapy at all. Use of iron chelation therapy and titrating the dose according to the need can significantly lower the iron load reducing the risk of iron-overload related complications leading to a better quality of life and improving survival in Pakistani beta thalassemia major patients. Conflicts of Interest: None

  3. Study on effectiveness of transfusion program in thalassemia major patients receiving multiple blood transfusions at a transfusion centre in Western India

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    Shah Neeraj

    2010-01-01

    Full Text Available Background : Children suffering from beta-thalassemia major require repeated blood transfusions which may be associated with dangers like iron overload and contraction of infections such as HIV, HCV, and HBsAg which ultimately curtail their life span. On the other hand, inadequate transfusions lead to severe anemia and general fatigue and debility. Materials and Methods: Data were obtained from 142 beta-thalassemia major patients aged 3 years or more receiving regular blood transfusions at a transfusion centre in Western India from 1 April 2009 to 30 June 2009. The clinical data and laboratory results were subsequently analyzed. Results: Of the 142 patients, 76 (53.5% were undertransfused (mean Hb <10 gm%. 96 (67% of the patients were taking some form of chelation therapy but out of them only 2 (2% were adequately chelated (S. ferritin <1000 ng/ml. 5 (3.5% of the patients were known diabetics on insulin therapy. 103 (72% of the patients were retarded in terms of growth. The prevalence of transfusion-transmitted infections (TTIs such as HCV, HIV, and HBsAg was respectively 45%, 2%, and 2%, with the prevalence of HCV being significantly more than the general population. The HCV prevalence showed positive correlation with the age of the patients and with the total no of blood transfusions received. As many as 15% (6 out of 40 children who were born on or after 2002 were HCV positive despite the blood they received being subjected to screening for HCV. Conclusions: The study suggests the need to step up the transfusions to achieve hemoglobin goal of 10 gm% (as per the moderate transfusion regimen and also to institute urgent and effective chelation measures with the aim of keeping serum ferritin levels below 1000 ng/ml to avoid the systemic effects of iron overload. In addition, strict monitoring of the children for endocrinopathy and other systemic effects of iron overload should be done. Rigid implementation of quality control measures for the

  4. Fok-I gene polymorphism of vitamin D receptor in patients with beta-thalassemia major and its effect on vitamin D status.

    Science.gov (United States)

    Dimitriadou, Meropi; Christoforidis, Athanasios; Fidani, Liana; Economou, Marina; Perifanis, Vassilios; Tsatra, Ioanna; Katzos, George; Athanassiou-Metaxa, Miranda

    2011-01-01

    Most of the biological actions of vitamin D are mediated by an intracellular receptor (VDR) in which several single nucleotide gene polymorphisms have been identified. Vitamin D deficiency is increasingly identified among thalassemic patients and recent evidence links it with myocardial iron accumulation. The aim of this work was to assess the distribution of the Fok-I polymorphism of the VDR gene among Greek children and young adults with beta-thalassemia major and to investigate its association with 25(OH)D(3) and 1,25(OH)(2)D(3) serum levels. Sixty-nine thalassemic patients (35 females and 34 males), with a mean age of 23·05±6·07 years, participated in the study. Genotype frequencies of Fok-I were similar to those previously reported for other populations; 44·9% of the patients were homozygotes for F allele, 43·5% were heterozygotes and 11·6% were homozygotes for the f allele. Low levels of serum 25(OH)D(3) were recorded, as 41 patients (59·4%) were below the cut-off limit of 50 nmol/l that determines deficiency, whereas, levels of 1,25(OH)(2)D(3) showed wide variability ranging from deficiency (≤50 pmol/l) in 34 patients (49·3%) to excess (≥125 pmol/l) in 13 patients (18·8%). When stratifying patients according to serum 1,25(OH)(2) D(3) concentrations, a higher prevalence of the f allele was observed in the deficiency group (P = 0·03). A comparison of the serum concentrations of the two vitamin D metabolites produced a trend towards a negative correlation (r = -0·204, P = 0·09). Further studies are required to assess the genetic contribution to the regulation of vitamin D metabolites in the serum of patients with beta-thalassemia major.

  5. Evaluation of ocular defects and its relevant factors in patients with beta thalassemia major in Sari Boo Ali Sina hospital, (2006-2008

    Directory of Open Access Journals (Sweden)

    hosein Karami

    2009-03-01

    Full Text Available Background: As There is not accurate information about ocular defects in Thalassemia Major (TM patients in Mazandaran province ,this study was designed to assess the prevalence of ophtalmopathies in thalassemic patients and also recognize its relevant factors in Sari Boo Ali Sina hospital. Sari. Materials and Methods: This descriptive Cross-sectional was Carried out on 60 TM patients in Thalassemia center at Sari Boo Ali Sina hospital. Subjects were selected by systematic sampling. After gathering demographic data , patients were evaluated about their illness and its complications from their medical records. Their visual acuity was assessed using Snell chart by an optometrist. Evaluation of retina was done by our ophthalmologist colleague. Visual evoked potential (VEP was assessed by TOENEES instrument made in Italy which had the ability to assess both VEP and P300 . Findings were analyzed by SPSS13 software and Chi square and Mann-whitney tests. Results: 60 patients underwen this study that 33 of them (55% were male. 4 of them (6.6% had problems in visual acuity . 3 of these became normal after refractive correction. 3 patients (5% had Inferior Posterior Cortical Cataract. 2 of them (3.3% had punctuate lens cortical opacity and one (1.7% had mild nuclear sclerosis. 4 patients( 6.7% had macular pigmentation and one (1.7% had left optic nerve head pit. No abnormal finding was detected in VEP, such as latency in voltage. Conclusion: Totally 20 patients had ocular complications. These defects can be a result of desferal toxicity or Iron toxicity and drug effects on binding to cupper and zinc and removing them from retinal cells or extramedulary hematopoesis. So based on the results, ophthalmologic evaluation of TM patients and tight desferal dose adjustment in these patients seems necessary.

  6. Impact of a national beta-thalassemia carrier screening program on the birth rate of thalassemia major.

    Science.gov (United States)

    Chern, Jimmy P S; Lin, Kai-Hsin; Su, Yi-Ning; Lu, Meng-Yao; Jou, Shiann-Tarng; Lin, Dong-Tsamn; Wang, Shih-Chung; Lin, Kuo-Sin

    2006-01-01

    In Taiwan, the prevalence of beta-thalassemia trait is at least 1.1%. The Taiwan government initiated a National Screening Program in 1993. Herein we examine the differences before and after the initiation of this program. Data consisting of the total number of patients and the birth prevalence beta-thalassemia major were collected. Ninety-one patients with transfusion-dependent thalassemia treated in our hospitals were included for analysis. DNA analysis was performed for 86 patients. In Taiwan 361 patients exist. The birth prevalence of per 100,000 births was 5.6% in 1994 and declined to 1.21 in 2002. Fourteen patients were born after the program's initiation. DNA analysis of them revealed a new mutation (IVS-1-5 (G-C)), which was introduced through an inter-racial marriage. Otherwise, the remainder was the common beta-thalassemia mutations found in Taiwan. Despite how successful the National Screening Program is, a few doctors still failed to detect parents at risk. In addition, we are concerned about the emerging problem of the increase of interracial marriages where parents may not have appropriate screening. Hence, postgraduate education programs for physicians, health education for the general population, and timely screening of inter-racial marriage should become a priority.

  7. Clinicoinvestigational and demographic profile of children with thalassemia major.

    Science.gov (United States)

    Trehan, Amita; Sharma, Nivedita; Das, Reena; Bansal, Deepak; Marwaha, R K

    2015-03-01

    There are an estimated 200 million carriers of the β-thalassemia gene worldwide, 20 million being in India. The mean prevalence in India is 3.3 %. Objective To evaluate the clinico-investigational profile and the demographic characteristics of patients with thalassemia major (TM). Methods This was a retrospective analysis of the clinico-demographic profile at presentation of patients of TM diagnosed in the Paediatric Hematology Clinic of our hospital. Results The clinical profile of 964 patients of TM was analyzed. The mean age at presentation of untransfused children was 13.2 ± 9.7 months. Nearly 2/3(rd) children presented before 1 year of age. Almost 40 % had symptoms for 3 months prior to presentation. The manifestations at presentation included pallor and failure to thrive. About 40 % presented with severe anemia, with a hemoglobin of country. Some communities are at high risk as compared to others. Education programs and compulsory antenatal screening appear to be the order of the day.

  8. Iron chelation therapy in thalassemia major: a systematic review with meta-analyses of 1520 patients included on randomized clinical trials

    DEFF Research Database (Denmark)

    Maggio, Aurelio; Filosa, Aldo; Vitrano, Angela

    2011-01-01

    The effectiveness of deferoxamine (DFO), deferiprone (DFP), or deferasirox (DFX) in thalassemia major was assessed. Outcomes were reported as means±SD, mean differences with 95% CI, or standardized mean differences. Statistical heterogeneity was tested using χ2 (Q) and I2. Sources of bias...

  9. SOX6 Downregulation Induces γ-Globin in Human β-Thalassemia Major Erythroid Cells

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    Jing Li

    2017-01-01

    Full Text Available Background. Fetal hemoglobin (HbF; α2γ2 is a potent genetic modifier of the severity of β-thalassemia and sickle cell anemia. Differences in the levels of HbF that persist into adulthood affect the severity of sickle cell disease and the β-thalassemia syndromes. Sry type HMG box (SOX6 is a potent silencer of HbF. Here, we reactivated γ-globin expression by downregulating SOX6 to alleviate anemia in the β-thalassemia patients. Methods. SOX6 was downregulated by lentiviral RNAi (RNA interference in K562 cell line and an in vitro culture model of human erythropoiesis in which erythroblasts are derived from the normal donor mononuclear cells (MNC or β-thalassemia major MNC. The expression of γ-globin was analyzed by qPCR (quantitative real-time PCR and WB (western blot. Results. Our data showed that downregulation of SOX6 induces γ-globin production in K562 cell line and human erythrocytes from normal donors and β-thalassemia major donors, without altering erythroid maturation. Conclusions. This is the first report on γ-globin induction by downregulation of SOX6 in human erythroblasts derived from β-thalassemia major.

  10. Gradient-echo magnetic resonance imaging study of pancreatic iron overload in young Egyptian beta-thalassemia major patients and effect of splenectomy

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    Matter Randa M

    2010-04-01

    Full Text Available Abstract Background Thalassemic patients suffer from diabetes mellitus secondary to hemosiderosis. Aims The study aimed to evaluate pancreatic iron overload by T2*-weighted Gradient-echo magnetic resonance imaging (MRI in young beta-thalassemia major patients and to correlate it with glucose disturbances, hepatic hemosiderosis, serum ferritin and splenectomy. Methods Forty thalassemic patients (20 non diabetic, 10 diabetic, and 10 with impaired glucose tolerance were recruited from Pediatric Hematology Clinic, in addition to 20 healthy controls. All patients underwent clinical assessment and laboratory investigations included complete blood count, liver function tests, serum ferritin and oral glucose tolerance test (OGTT. A T2*-weighted gradient-echo sequence MRI was performed with 1.5 T scanner and signal intensity ratio (SIR of the liver and the pancreas to noise were calculated. Results Significant reduction in signal intensity ratio (SIR of the liver and the pancreas was shown in thalassemic patients compared to controls (P Conclusions pancreatic siderosis can be detected by T2* gradient-echo MRI since childhood in thalassemic patients, and is more evident in patients with abnormal glucose tolerance. After splenectomy, iron deposition may be accelerated in the pancreas. Follow up of thalassemic patients using pancreatic MRI together with intensive chelation therapy may help to prevent the development of overt diabetes.

  11. Congenital sideroblastic anemia treated as thalassemia major.

    Science.gov (United States)

    Chowdhury, R K; Miah, M Z; Morshed, M

    2010-10-01

    Sideroblastic anemia is a rare cause of microcytic hypochromic anemia. In Bangladesh, most common causes of microcytic anemia are iron deficiency anemia, anemia of chronic diseases and thalassemia. Serum ferritin is usually done to differentiate them. If serum ferritin is low, the diagnosis of iron deficiency is entertained. When serum ferritin is raised but erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are normal - anemia of chronic disease is excluded. The next investigation is Hb-electrophoresis. Normal Hb-electroporesis excludes thalassemia. Then bone marrow examination with iron stain is done for the diagnosis of sideroblastic anemia. Here we report a case of a 14 year old girl presenting with intermittent leg pain and anemia. Her blood flim showed microcytic hypochromic anemia with raised serum ferritin and normal Hb-electroporesis. Initially she was labeled as a case of unusual type of thalassemia and treated with blood transfusion. Finally bone marrow examination with iron stain was done and she was diagnosed as a case of congenital sideroblastic anemia. We reviewed the literature and discussed the management as well.

  12. The Assessment of Skin Color and Iron Levels in Pediatric Patients with β-Thalassemia Major Using a Visual Skin Color Chart.

    Science.gov (United States)

    Bucak, Ibrahim H; Almis, Habip; Benli, Samet; Turgut, Mehmet

    2017-03-01

    Patients with β-thalassemia major (β-TM), a disease that emerges due to disorder of hemoglobin (Hb) synthesis, require life-long erythrocyte transfusion. The purpose of this study was to evaluate skin color and iron levels of patients with β-TM using a visual skin color chart. Each patient's skin color was matched on a skin color chart under a fluorescent lamp by the same physician on each occasion. Iron, iron binding capacity, ferritin and complete blood count (CBC) were studied for each patient enrolled. Colors marked on the visual skin color chart were compared with the laboratory results. Thirty-five patients being monitored at our hospital were included, 19 (54.3%) males and 16 (45.7%) females. The colors marked on the chart darkened as patients aged (p = 0.002, r = 0.49), the frequency of annual transfusions (p = 0.022, r = 0.385), ferritin levels (p < 0.001, r = 0.72) and iron levels increased (p = 0.001, r = 0.538) and as total iron binding capacity (TIBC) decreased (p < 0.001, r = -0.709). On the basis of this study, iron deposition in patients with β-TM was correlated with the colors on the chart.

  13. Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India

    National Research Council Canada - National Science Library

    Sankar, Vaikam H; Arya, Vandana; Tewari, Depshikha; Gupta, Usha R; Pradhan, Mandakini; Agarwal, Sarita

    2006-01-01

    .... These include 125 with thalassemia trait, 48 with thalassemia major, 26 with sickle-cell thalassemia, 15 with E beta-thalassemia, 40 with iron-deficiency anemia, 8 with another hemolytic anemia...

  14. Serum Prohepcidin Levels in Children with Thalassemia Major and Intermedia

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    Celil Yılmaz

    2017-04-01

    Full Text Available Objective: To determine the role of hepcidin hormone levels in iron accumulation in patients with thalassemia major (TM and thalassemia intermedia (TI. Materials and Methods: Serum prohepcidin and ferritin levels were determined in 34 patient with TM, 10 patient with TI, who attended the Department of Pediatric Hematology Adnan Menderes University Medical Faculty and the Department of Pediatrics at Aydın Atatürk State Hospital between 1 September 2006 and 30 September 2007 and 40 control patients without infection/inflammation, hepatitis or liver failure. Serum prohepcidin levels were measured using a commercial enzyme-linked immunosorbent assay kit (DRG International, Inc. Marburg, Germany; ferritin was studied with chemiluminescence method (Immulite 2000 DPC. Results: Mean serum ferritin levels in TM, TI and control groups were 2347.97±1724.81 ng/mL (range: 144-8015 ng/mL, 1352.40±918.94 ng/mL (range: 311-3109 ng/mL, and 33.35±12.03 ng/mL (range: 20-69.1 ng/mL, respectively. Serum prohepcidin levels in the same groups were 221.78±74.38 ng/mL (range: 7l.14-446.57 ng/mL, 173.31±52.14 ng/mL (range: 100.83-267.69 ng/mL, and 218.20±50.37 ng/mL (range: 116.18-330.43 ng/mL, respectively. There was a statistically significant difference in prohepcidin levels between patients with TI and control group only (p=0.016. No correlation was found between prohepcidin and ferritin levels in all groups (r=-0.023, p=0.839. Conclusion: Low levels of prohepcidin in patients with TI may be related to increased erythropoietic activity. Prohepcidin can be an indicator of active erythropoiesis.

  15. Perceptions of thalassemia and its treatment among Malaysian thalassemia patients: A qualitative study

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    Wan Ismahanisa Ismail

    2016-06-01

    Full Text Available Background Thalassemia is a common public health problem in Malaysia and one of the most common chronic and genetic disorders. Aims The present qualitative study explores knowledge about thalassemia, perceptions about conventional therapies and the points that affect Malaysian patients with thalassemia in taking medications correctly. Methods This study used a qualitative method. Purposive and theoretical samplings were combined to explore the issues related to thalassaemia and its perceptions. Twenty-one patients with thalassemia were recruited from the Thalassemia Society, Kedah, Malaysia from July to October 2015. The semi-structured interviews were audio taped, transcribed verbatim and translated into English for thematic content analysis. Results Participants perceived thalassemia as an incurable disease which is due to genetic and blood related disorders. A positive perception was shown towards conventional therapies considering it as effective for their condition. High treatment cost was given as a reason why patients perceived conventional therapies as effective. Fear of side effects was the main reason the patients gave for their delay in looking for treatment. However, due to limited treatment options, patients were reported to show positive attitude towards the side effects due to thalassemia treatment. Conclusion This explanatory investigation suggests that thalassemia patients’ understanding about thalassemia is complex in nature. The findings may help healthcare providers remove myths about the fear of the treatment. It may also help in improving patient’s compliance towards the thalassemia therapies. Main focus for future research should be on those patients who declined the conventional therapies.

  16. Magnetic resonance imaging of transfusional hemosiderosis complicating thalassemia major

    Energy Technology Data Exchange (ETDEWEB)

    Brasch, R.C.; Wesbey, G.E.; Gooding, C.A.; Koerper, M.A.

    1984-03-01

    Tissue deposits of hemosiderin, a paramagnetic iron-protein complex, resulted in marked abnormalities of magnetic resonance (MR) spin-echo signal intensity within the viscera of three children with transfusional hemosiderosis and thalassemia major. In all patients the liver and bone marrow demonstrated abnormally low spin-echo intensities and the kidneys and muscles had abnormally high intensities. These observations correlate with in vitro MR observation of ferric (Fe/sup +3/) solutions, in which concentrations of ferric salts greater than 20 mmol yielded higher intensities than did water alone. MR imaging is sensitive to the tissue deposition of hemosiderin, and MR intensity appears to provide a rough measure of the amount of iron deposited.

  17. Thalidomide-induced Stroke in a Child With Thalassemia Major.

    Science.gov (United States)

    Gunaseelan, Sushil; Prakash, Anand

    2017-11-01

    β-thalassemia major is a hereditary anemia resulting from defects in β-globin production. It is also characterized by a hypercoagulable state with an increased risk of thrombosis. Thalidomide, a drug known for its immunomodulating and antiangiogenic properties, has recently been demonstrated to induce γ-globin gene expression and to increase the proliferation of erythroid cells. An increasing incidence of thromboembolic events in thalidomide-treated patients has been reported. This is often in the context of thalidomide combinations with other drugs, including steroids and particularly anthracycline-based chemotherapy, and with very low incidence of thrombosis with single-agent thalidomide treatment. We report a case of stroke in a β-thalassemic child who had received a course of thalidomide.

  18. Subclinical renal abnormalities in young thalassemia major and ...

    African Journals Online (AJOL)

    Background: Limited data are available about renal involvement in thalassemia patients. Renal dysfunction in these patients seems to be multifactorial attributed mainly to long standing anemia, chronic hypoxia, iron overload and toxicity of iron chelators. Objective: To assess the frequency of subclinical glomerular and ...

  19. Subclinical renal abnormalities in young thalassemia major and ...

    African Journals Online (AJOL)

    Amira A.M. Adly

    2014-08-11

    Aug 11, 2014 ... Abstract Background: Limited data are available about renal involvement in thalassemia patients. Renal dysfunction in these patients seems to be multifactorial attributed mainly to long standing anemia, chronic hypoxia, iron overload and toxicity of iron chelators. Objective: To assess the frequency of ...

  20. Relationship between Personality Traits and Happiness in Patients with Thalassemia

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    Babollah Bakhshipour

    2014-12-01

    Full Text Available Background: The aim of this study was determining the relationship between personality traits and happiness in patients with major thalassemia. Materials and Methods: The design of this study was descriptive (correlational study. The target population of this study was all under-treated patients with major thalassemia in Amirkola thalassemia center in 2011. Among these patients, 150 patients were sampled using simple random sampling method and Morgan's table. The data were analyzed by means of calculating Pearson correlation coefficients and multiple linear regression analysis. The patients were asked to complete NEO-five factor Inventory (short form and Oxford happiness inventory. Results: Based on the results, the coefficient of regression analysis of NEO personality factors (big five and happiness was 0.45, which shows a linear relationship between personality factors of NEO and happiness in patients with thalassemia. Thus, there is a statistically significant relationship among personality traits (neuroticism, extroversion, openness, agreeableness, conscientiousness and happiness. Conclusion: Among personality traits, extroversion, flexibility, agreeableness and conscientiousness had positive statistically meaningful relationship with happiness i.e. patients with lower scores in neuroticism, were happier.

  1. [Results of hematopoietic stem cell transplantation in hemoglobinopathies: thalassemia major and sickle cell disease].

    Science.gov (United States)

    Hladun, R; Elorza, I; Olivé, T; Dapena, J L; Llort, A; Sánchez de Toledo, J; Díaz de Heredia, C

    2013-08-01

    The prevalence of hemoglobinopathies in Spain is increasing as a result of immigration. Thalassemia major presents with chronic hemolytic anemia that requires regular red blood cell transfusions within the first year of life. Patients with sickle cell disease suffer from chronic anemia, vasculopathy and progressive damage in almost any organ. There is decreased life expectancy in both conditions. Allogeneic hematopoietic stem cell transplantation represents the only potentially curative option. Seventeen patients (fourteen thalassemia major, and three sickle cell disease) underwent allogeneic hematopoietic stem cell transplantations. In the thalassemia group, nine donors were HLA-geno-identical siblings, two were partially matched related donors (one HLA allele mismatch), and three unrelated donors. All three patients with sickle cell disease were transplanted from HLA-geno-identical siblings. The source of stem cells was bone marrow in sixteen cases. Median patient age at transplant was six years (range: 1-16) in the thalassemia group, and twelve years (range: 8-15) in the sickle cell disease group. The graft was successful in all patients. Secondary graft rejection was observed in two thalassemia patients rendering them dependent on blood transfusions. Complete chimerism was observed in thirteen patients and, although mixed chimerism occurred in two, with all of them showing normal hemoglobin levels after transplantation and not requiring further transfusion support. Patients affected by sickle cell disease did not present with new vaso-occlusive crises, and stabilization of pulmonary and neurological function was observed. Chronic graft-versus-host disease was detected in three patients affected by thalassemia, and hypogonadotrophic hypogonadism in five patients. We conclude that for thalassemia major and sickle cell disease, allogenic hematopoietic stem cell transplantation from HLA-geno-identical siblings offers a high probability of complication-free survival

  2. The Correlation of Cardiac and Hepatic Hemosiderosis as Measured by T2*MRI Technique with Ferritin Levels and Hemochromatosis Gene Mutations in Iranian Patients with Beta Thalassemia Major.

    Science.gov (United States)

    Soltanpour, Mohammad Soleiman; Davari, Kambiz

    2018-01-01

    Organ-specific hemosiderosis and iron overload complications are more serious and more frequent in some patients with beta thalassemia major (BTM) compared with others. We investigated whether coinheritance of HFE H63D or C282Y gene mutations in patients with BTM contributes to the phenotypic variation of iron overload complications and assessed the correlation of cardiac and hepatic hemosiderosis with plasma ferritin levels. We studied 60 patients with BTM with a mean age of 17.5±9.1 years from the Northwest of Iran. HFE gene mutations were analyzed using the polymerase chain reaction-restriction fragment length polymorphism method. Cardiac and hepatic hemosiderosis was assessed using T2*magnetic resonance imaging (MRI). Ferritin levels were measured using the enzyme immunoassay method. Ferritin levels showed a strong inverse correlation with hepatic T2*MRI values (r = -0.631, p = 0.001) but a poor correlation with cardiac T2*MRI values (r = -0.297, p = 0.044). The correlation between cardiac T2*MRI values and hepatic T2*MRI values was poor and insignificant (r = 0.287, p = 0.058). Genotype and allele distribution of HFE H63D and C282Y mutation did not differ significantly between patients with and without hepatic or cardiac hemosiderosis ( p > 0.050). However, carriers of HFE 63D allele had significantly higher ferritin levels compared with non-carriers (1 903±993 vs. 992±683, p < 0.001). Cardiac T2*MRI values showed a poor correlation with hepatic T2*MRI values and ferritin levels. Accurate assessment of cardiac iron overload in patients with BTM can only be done using the T2*MRI technique. Additionally, HFE H63D is a significant determinant factor for elevated ferritin levels in BTM patients.

  3. The Correlation of Cardiac and Hepatic Hemosiderosis as Measured by T2*MRI Technique with Ferritin Levels and Hemochromatosis Gene Mutations in Iranian Patients with Beta Thalassemia Major

    Directory of Open Access Journals (Sweden)

    Mohammad Soleiman Soltanpour

    2018-01-01

    Full Text Available Objectives: Organ-specific hemosiderosis and iron overload complications are more serious and more frequent in some patients with beta thalassemia major (BTM compared with others. We investigated whether coinheritance of HFE H63D or C282Y gene mutations in patients with BTM contributes to the phenotypic variation of iron overload complications and assessed the correlation of cardiac and hepatic hemosiderosis with plasma ferritin levels. Methods: We studied 60 patients with BTM with a mean age of 17.5±9.1 years from the Northwest of Iran. HFE gene mutations were analyzed using the polymerase chain reaction-restriction fragment length polymorphism method. Cardiac and hepatic hemosiderosis was assessed using T2*magnetic resonance imaging (MRI. Ferritin levels were measured using the enzyme immunoassay method. Results: Ferritin levels showed a strong inverse correlation with hepatic T2*MRI values (r = -0.631, p = 0.001 but a poor correlation with cardiac T2*MRI values (r = -0.297, p = 0.044. The correlation between cardiac T2*MRI values and hepatic T2*MRI values was poor and insignificant (r = 0.287, p = 0.058. Genotype and allele distribution of HFE H63D and C282Y mutation did not differ significantly between patients with and without hepatic or cardiac hemosiderosis (p > 0.050. However, carriers of HFE 63D allele had significantly higher ferritin levels compared with non-carriers (1 903±993 vs. 992±683, p < 0.001. Conclusions: Cardiac T2*MRI values showed a poor correlation with hepatic T2*MRI values and ferritin levels. Accurate assessment of cardiac iron overload in patients with BTM can only be done using the T2*MRI technique. Additionally, HFE H63D is a significant determinant factor for elevated ferritin levels in BTM patients.

  4. Poor stem cell harvest may not always be related to poor mobilization: lessons gained from a mobilization study in patients with β-thalassemia major.

    Science.gov (United States)

    Constantinou, Varnavas C; Bouinta, Asimina; Karponi, Garyfalia; Zervou, Fani; Papayanni, Penelope-Georgia; Stamatoyannopoulos, George; Anagnostopoulos, Achilles; Yannaki, Evangelia

    2017-04-01

    Hematopoietic stem cell mobilization and leukapheresis in adult patients with β-thalassemia have recently been optimized in the context of clinical trials for obtaining hematopoietic stem cells for thalassemia gene therapy. In some patients, however, the yield of cluster of differentiation 34-positive (CD34+) cells was poor despite successful mobilization, and a modification of apheresis settings was mandatory for harvest rescue. Data were analyzed from 20 adult patients with β-thalassemia who were enrolled in a clinical trial of optimizing mobilization strategies for stem cell gene therapy. The aim of this post-hoc analysis was to assess how certain hematological and/or clinical parameters may correlate with low collection efficiency in the presence of adequate numbers of circulating stem cells after pharmacological mobilization and standard leukapheresis procedures. Among 19 patients who achieved optimal mobilization with Plerixafor, four who underwent splenectomy demonstrated disproportionately poor CD34+ cell harvests, as determined by their circulating CD34+ cell counts after mobilization. All four patients who underwent splenectomy presented at baseline and before first apheresis with lymphocytosis resulting in lymphocyte/neutrophil ratios well above 1 and marked reticulocytosis compared with patients who achieved optimal mobilization/CD34+ cell harvest. Such unexpected expansion of specific cell populations disrupted the normal cell layer separation and necessitated modification of the apheresis settings to rescue the harvests. By close examination of certain hematological and/or clinical parameters before leukapheresis, patients who, despite adequate mobilization, are at risk for poor CD34+ cell harvests may be identified, and harvest failure can be prevented by adjusting the apheresis settings. © 2016 AABB.

  5. Ocular abnormalities in multi-transfused beta-thalassemia patients

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    Reza Jafari

    2015-01-01

    Full Text Available Aims: The aim of this study was to assess ocular changes in thalassemia patients who have received multiple transfusions and chelate binding therapy in order to avoid iron accumulation. Settings and Design: A cross-sectional study. Subjects and Methods: A total of 54 thalassemia major patients were selected as case group, and 54 age- and sex-matched healthy subjects were regarded as a control group. Ocular examination included visual acuity, refraction testing, slit lamp examination, funduscopy, tonometry, perimetry, tear break-up time test, and color vision testing were performed for all the participants. We computed the frequency and duration of blood transfusion, the mean serum ferritin level, pretransfusion hemoglobin concentration, and type, duration, and daily dose of chelation therapy for thalassemia patients based on their records. Statistical Analysis Used: All data analysis was performed using SPSS, version 19. Results: All the thalassemic patients were asymptomatic, but abnormal ocular findings (dry eye (33.3%, cataract (10.2%, retinal pigment epithelium degeneration (16.7%, color vision deficiency (3.7%, and visual field defects (33.7% were seen in 68.5% of thalassemic group. The prevalence of ocular abnormalities in normal group was 19.4%, which was significantly lower than that in thalassemia patients (P = 0.000. No significant correlation was found between ocular abnormalities and mean serum ferritin level (P = 0.627 and mean hemoglobin concentration (P = 0.143. Correlation of number of blood transfusion with the presence of ocular abnormalities was found to be statistically significant (P = 0.005. Conclusions: As life expectancy for beta-thalassemia patients extends, regular ophthalmological evaluation to detect early changes in their ocular system is recommended.

  6. Disease concealment: Experiences of thalassemia patients and their caregivers

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    Pouraboli B

    2014-11-01

    Full Text Available Background and Objective: Disclosure of disease is one of the most complex challenges for individuals who live with thalassemia. This issue is associated with being stigmatized. It is usually associated with anxiety, fear, and negative reactions of other people. Exploring the experience of concealment resulting from thalassemia-related stigma and designing effective interventions is the key to effective treatment and caring of these patients. The present study was conducted to explain the experiences of thalassemia patients and their caregivers concerning disease concealment due to stigmatization. Materials and Method: This qualitative study performed through conventional content analysis approach. The 21 participants with major thalassemia and their caregivers were selected through purposive sampling. The research was performed in the medical facility of Samen Alhojaj, Kerman, Iran, during 2012-2013. Data were gathered through unstructured interviews and field notes. Data analysis was done using conventional content analysis approach Results: The concept of concealment experienced by patients and their caregivers included the reasons for concealment (disease as a barrier for goal achievement, patient’s personal traits as a barrier for disease disclosure, parents tendency for disease concealment, wrong behaviors and beliefs of the society due to stigmatization of the disease, strategies for concealment (secret caring and lying, and concealment outcomes (physical exhaustion, mental stress, deprivation of support. Conclusion: Patients’ experiences related to thalassemia stigmatization indicated that these patients not only experience adverse physical and mental outcomes of the disease, but also deal with the disease concealment resulting from social stigmatization. The results of the current study can be an introduction to planning interventions to resolve social problems of these patients and help promote their quality of life.

  7. Evaluation of Bone Mineral Density in Children with Thalassemia Major

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    Betül Bakan

    2012-12-01

    Full Text Available Aim: Fragile bones develop due to various factors in thalassemic patients. Even with optimum management, osteoporosis occurs, contributing to morbidity in majority of patients with thalassemia major (TM. Our aim was to evaluate bone health of thalassemic children using biochemical parameters and bone mineral density (BMD, and to emphasize the precautionary measures and early diagnosis of osteoporosis. Material and Methods: Thirteen children (5 females, 8 males, age <18 years with TM were included in the study. Age, duration, weight, height, transfusion frequency, medication use were recorded. Following laboratory analysis were obtained: Whole blood count, fasting blood glucose, ferritin, alanine aminotransferase, aspartate aminotransferase, calcium, phosphorus, alkaline phosphatase, thyroid stimulating hormone, free thyroxin, and intact parathyroid hormone (iPTH. BMD was determined using dual energy X-ray absorptiometry (DXA from femur and lumbar vertebrae. Patients with DXA Z-score <-2 was defined as osteoporotic. Results: The mean age was 7.85±3.17 years and body mass index (BMI was 14.68±1.93 kg/m2. The rest of the results were as follows: Lumbar BMD 0.464±0.108 g/cm2; total femur BMD 0.581± 0.114 g/cm2; lumbar DEXA Z-score 2.44±1.60; total femur DEXA -0.93±1.19. Osteoporosis ratio was determined as 69% in the lumbar vertebrae and 10% in the femur. A significant positive correlation was found between lumbar-femoral BMD and BMI, and a significant negative correlation was observed between femoral BMD and iPTH. Conclusion: BMD is low in thalassemic children. Despite regular transfusions and chelation therapy, osteoporosis starts early in life. (Turkish Journal of Osteoporosis 2012;18: 72-7

  8. Thalassemias

    Science.gov (United States)

    ... 2014 | Research Feature NHLBI-funded Research Centers Target Hemoglobinopathies In both sickle cell disease (SCD) and thalassemias , known collectively as hemoglobinopathies, the bone marrow produces red blood cells that ...

  9. A Comparison of Quality of Life between Adolescences with Beta Thalassemia Major and their Healthy Peers

    Directory of Open Access Journals (Sweden)

    Shahram Baraz

    2016-01-01

    Full Text Available Background The chronic genetic blood disorder, thalassemia, affects Quality of life (QOL negatively. Regarding this, if adolescences with thalassemia are treated well, they will grow into an adult who will have a good potential for participating in society. Objectives: to determine the strongest predictor of QOL, compare QOL between the adolescents with beta-type major and their peers in Abadan city. Materials and Methods This was a cross-sectional study; the population consisted of 65 beta thalassemia major patients and 65  healthy peers with the same ages as the witness group. The data collection tools included SF-36 questionnaire and a questionnaire for demographic information. Data analysis was performed using independent t-test, correlation and linear regression by SPSS-16. Results The results of the study revealed that there is a significant difference (P < 0.05 in the average quality of life between the two groups of the study. On the other hand, the results showed that there was a meaningful relation between different aspects of life quality and family history of thalassemia            (P< 0.05. Also, there was a negative correlation between quality of life and the frequency of blood transfusion per year (P< 0.05. Conclusion Adolescences with beta thalassemia major do not have a desirable quality of life, therefore, this fact shows the necessity of serious reforming in various fields of health care, treatment, family, social and financial support, and rehabilitation that need more attention from health care policymakers.

  10. Diabetes in Patients with ß-thalassemia or other Hemoglobinopathies - Analysis from the DPV Database.

    Science.gov (United States)

    Warncke, K; Konrad, K; Kohne, E; Hammer, E; Ohlenschläger, U; Herrlinger, S; Jäger, A; Holl, R W

    2016-11-01

    Background: Diabetes mellitus is a common endocrinopathy in patients with thalassemia major, but the occurrence of hemoglobinopathies is rare in Germany and Western Europe. The longitudinal German-Austrian DPV (Diabetes Patienten Verlaufsdokumentation) registry allows a comprehensive characterization of this group of patients. Patients/methods: Patients from the DPV-registry agedhemoglobinopathies were compared to patients with type 1 diabetes (T1D) and type 2 diabetes (T2D) using the statistical software SAS 9.4. Results: 94 patients (0.13% of patients) with hemoglobinopathies are registered in DPV. 82.4% of 17 patients with thalassemia major, 100% of 12 patients with sickle cell disease (SCD) and >90% of 65 patients with other hemoglobinopathies receive insulin treatment. In the majority of patients with thalassemia major, hemosiderosis is documented. Patients with thalassemia major developed diabetes at a median age of 14.6 [IQR 8.4-18.0] years (9.0 years [5.3-12.5] in T1D; 18.7 years [14.2-25.6] in TD2; both p<0.01). They show high HbA1c/fructosamine levels and frequent hypoglycemia, reflecting poor metabolic control. Conclusion: Diabetes in thalassemia major is probably caused by hemosiderosis due to polytransfusion, while patients with SCD/thalassemia minor are most likely affected by T1D. The high rate of hypoglycemia in patients with ß-thalassemia major may be caused by liver fibrosis and a lack of hepatic glycogen stores. © Georg Thieme Verlag KG Stuttgart · New York.

  11. Glutathione Redox System in β-Thalassemia/Hb E Patients

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    Ruchaneekorn W. Kalpravidh

    2013-01-01

    Full Text Available β-thalassemia/Hb E is known to cause oxidative stress induced by iron overload. The glutathione system is the major endogenous antioxidant that protects animal cells from oxidative damage. This study aimed to determine the effect of disease state and splenectomy on redox status expressed by whole blood glutathione (GSH/glutathione disulfide (GSSG and also to evaluate glutathione-related responses to oxidation in β-thalassemia/Hb E patients. Twenty-seven normal subjects and 25 β-thalassemia/Hb E patients were recruited and blood was collected. The GSH/GSSG ratio, activities of glutathione-related enzymes, hematological parameters, and serum ferritin levels were determined in individuals. Patients had high iron-induced oxidative stress, shown as significantly increased serum ferritin, a decreased GSH/GSSG ratio, and increased activities of glutathione-related enzymes. Splenectomy increased serum ferritin levels and decreased GSH levels concomitant with unchanged glutathione-related enzyme activities. The redox ratio had a positive correlation with hemoglobin levels and negative correlation with levels of serum ferritin. The glutathione system may be the body’s first-line defense used against oxidative stress and to maintain redox homeostasis in thalassemic patients based on the significant correlations between the GSH/GSSH ratio and degree of anemia or body iron stores.

  12. Evaluation of bone mineral density of the lumbar spine in patients with beta-thalassemia major with dual-energy x-ray absorptiometry and quantitative computed tomography: a comparison study.

    Science.gov (United States)

    Angelopoulos, Nicholas G; Katounda, Eugenia; Rombopoulos, Grigorios; Goula, Anastasia; Kaltzidou, Victoria; Kaltsas, Dimitrios; Ioannis, Pappas; Tolis, George

    2006-02-01

    Osteoporosis is a common, multifactorial cause of morbidity in patients with beta-thalassemia. The present study was performed to compare bone mineral density (BMD) results in the lumbar spine of thalassemic patients measured by both dual-energy x-ray absorptiometry (DEXA) and quantitative computed tomography (QCT), and to determine their correlations with the markers of bone turnover. BMD was measured in the lumbar spine of 13 regularly transfused patients with beta-thalassemia major by both DEXA and QCT. Blood and urine samples were obtained for the determination of biochemical and hormonal profiles. Both T-scores and Z-scores were higher when measured by QCT (T-score = -0.41 +/- 1.31, Z-score = -0.56 +/- 1.08, mean +/- SD) compared with the values given by DEXA (T-score = -2.57 +/- 0.88, Z-score = -2.32 +/- 1.11, P = 0.0005). In comparison to DEXA, QCT T-scores were more closely correlated with age (r = -0.19 vs. r = -0.70, P = 0.0068). Strong negative correlation was found between QCT values and age (r = -0.67, P = 0.01). In comparison to DEXA T-scores, QCT T-scores were more closely correlated with osteocalcin, urine N-telopeptide cross-links of type I collagen, and deoxypyridinoline, but without statistical significance. DEXA T-scores were better correlated only with urine C-terminal telopeptides of type I collagen, but again without statistical significance. These results imply that the two methods cannot be used interchangeably in assessing BMD in thalassemic patients. However, which one of these two techniques more precisely determines the overall strength of vertebrae in patients with beta-thalassemia remains to be investigated.

  13. Multiple transfused thalassemia major: Ocular manifestations in a hospital-based population

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    Taneja Rashi

    2010-01-01

    Full Text Available Purpose: To study the ocular manifestations in multiple transfused beta-thalassemia major patients and assess the ocular side-effects of iron chelating agents. Materials and Methods: In this prospective observational study, 45 multiple transfused beta-thalassemia major children between six months and 21 years of age were enrolled and assigned groups according to the treatment regimens suggested. Group A received only blood transfusions, Group B blood transfusions with subcutaneous desferrioxamine, Group C blood transfusions with desferrioxamine and oral deferriprone and Group D blood transfusions with deferriprone. Ocular status at the time of enrolment was documented. Subjects were observed quarterly for one year for changes in ocular status arising due to the disease process and due to iron chelation therapy. Children with hemoglobinopathies other than beta-thalassemia major, congenital ocular anomalies and anemia due to other causes were excluded. Results: Ocular involvement was observed in 58% of patients. Lenticular opacities were the most common ocular finding (44%, followed by decreased visual acuity (33%. An increased occurrence of ocular changes was observed with increase of serum ferritin and serum iron levels as well as with higher number of blood transfusions received. Desferrioxamine seemed to have a protective influence on retinal pigment epithelium (RPE mottling. Occurrence of lenticular opacities and RPE degeneration correlated positively with use of desferrioxamine and deferriprone respectively. Follow-up of patients for one year did not reveal any change in ocular status. Conclusion: Regular ocular examinations can aid in preventing, delaying or ameliorating the ocular complications of thalassemia.

  14. Low prevalence of fibrosis in thalassemia major assessed by late gadolinium enhancement cardiovascular magnetic resonance

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    Tanner Mark A

    2011-01-01

    Full Text Available Abstract Background Heart failure remains a major cause of mortality in thalassaemia major. The possible role of cardiac fibrosis in thalassemia major in the genesis of heart failure is not clear. It is also unclear whether cardiac fibrosis might arise as a result of heart failure. Methods We studied 45 patients with thalassaemia major who had a wide range of current cardiac iron loading and included patients with prior and current heart failure. Myocardial iron was measured using T2* cardiovascular magnetic resonance (CMR, and following this, late gadolinium enhancement (LGE was used to determine the presence of macroscopic myocardial fibrosis. Results The median myocardial T2* in all patients was 22.6 ms (range 5.3-58.8 ms. Fibrosis was detected in only one patient, whose myocardial T2* was 20.1 ms and left ventricular ejection fraction 57%. No fibrosis was identified in 5 patients with a history of heart failure with full recovery, in 3 patients with current left ventricular dysfunction undergoing treatment, or in 18 patients with myocardial iron loading with cardiacT2* Conclusion This study shows that macroscopic myocardial fibrosis is uncommon in thalassemia major across a broad spectrum of myocardial iron loading. Importantly, there was no macroscopic fibrosis in patients with current or prior heart failure, or in patients with myocardial iron loading without heart failure. Therefore if myocardial fibrosis indeed contributes to myocardial dysfunction in thalassemia, our data combined with the knowledge that the myocardial dysfunction of iron overload can be reversed, indicates that any such fibrosis would need to be both microscopic and reversible.

  15. Serum ferritin, serum nitric oxide, and cognitive function in pediatric thalassemia major

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    Septiana Nur Qurbani

    2017-06-01

    Full Text Available Background Hemolysis and repeated blood transfusions in children with thalassemia major cause iron overload in various organs, including the brain, and may lead to neurodegeneration. Hemolysis also causes decreased levels of nitric oxide, which serves as a volume transmitter and slow dynamic modulation, leading to cognitive impairment. Objective To assess for correlations between serum ferritin as well as nitric oxide levels and cognitive function in children with thalassemia major.  Methods This analytical study with cross-sectional design on 40 hemosiderotic thalassemia major patients aged 6−14 years, was done at the Thalassemia Clinic in Dr. Hasan Sadikin Hospital, Bandung, West Java, from May to June 2015. Serum ferritin measurements were performed by an electrochemiluminescence immunoassay; serum nitric oxide was assayed by a colorimetric procedure based on Griess reaction; and cognitive function was assessed by the Wechsler Intelligence Scale for Children test. Statistical analysis was done using Spearman’s Rank correlation, with a significance value of 0.05. Results Abnormal values in verbal, performance, and full scale IQ were found in 35%, 57.5% and 57.5%, respectively. Serum nitric oxide level was significantly correlated with performance IQ (P=0.022, but not with verbal IQ (P=0.359 or full scale IQ (P=0.164. There were also no significant correlations between serum ferritin level and full scale, verbal, or performance IQ (P=0.377, 0.460, and 0.822, respectively. Conclusion Lower serum nitric oxide level is significantly correlated to lower cognitive function, specifically in the performance IQ category. However, serum ferritin level has no clear correlation with cognitive function.

  16. Ocular findings in children with thalassemia major in Eastern Mediterranean

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    Adnan Aksoy

    2014-02-01

    Full Text Available AIM: To investigate ophthalmologic findings in children with thalassemia major (TM and compare the findings with healthy controls. METHODS: In a cross-sectional study, 43 children with thalassemia major from pediatric hematology outpatient clinics from two university hospitals and age/sex matched 47 healthy children were included in the study. After a complete ophthalmic examination, tear function tests including the Schirmer test, fluorescein tear break-up time (BUT, ultrasound pachymetry, and axial length measurement were performed. Obtained data was recorded for statistical analysis and the values of right eyes were compared between groups. RESULTS: The mean best corrected visual acuity was 1.34±0.75 in TM and 1.08±0.28 in controls. It was found lower than 0.1 logMAR unit in 10 (23.2% children with TM and 2 (4.2% in controls, and the difference was statistically significant (P<0.05. The mean central corneal thickness was 540±26.95 in children with TM and 536.98±20.45µm in controls (P>0.05. The mean axial length was 22.53±0.50 in TM and 22.57±0.43mm in the control group. The mean Schirmer test score was 19.94±6.91 in TM and 24.22±3.95mm in the control group (P<0.01. The mean BUT score was 9.62±1.28 in TM and 9.73±0.6s in the control group (P>0.05. CONCLUSION: In TM, while corneal thickness, axial length, and BUT are close to controls, the Schirmer scores are less than normal. The study revealed that TM may be affected by the tear function and visual acuity.

  17. [Relationship between growth disorders and iron overload in children with beta-thalassemia major].

    Science.gov (United States)

    Huang, Yong-Lan; Liu, Sha; Xia, Ting; Hao, Wen-Ge; Liang, Wei; Sun, Xin

    2008-10-01

    To study the status of growth and development and the relationship between growth disorders and iron overload in children with beta-thalassemia major. Fifty children with beta-thalassemia major and who received blood transfusion therapy regularly (age: 9 months-17 years) were enrolled. They were subjected to a thorough history taking, clinical examinations, and laboratory examinations, including complete blood count, alanine transferasa (ALT) and serum ferritin. The physical growth parameters, such as height and weight, were compared with the reference values of Chinese children. Twenty-four patients (48%) were of short stature with height under the 3th percentile. Among them, 15 cases presented with their height and weight both under the 3th percentile. Spontaneous sex development was seen in 7 cases out of 21 over 10-year-old patients. No sex development was found in 4 out of 8 patients who were over 14 years old. The patients with a height under the 10th percentile (n=31) had higher serum ferritin levels (8239.2+/-5865.5 mg/L vs 5028.1+/-3885.7 mg/L; P<0.05) and lower hemoglobin levels (68.2+/-12.3 g/L vs 79.7+/-14.5 g/L; P<0.05) as well as hepatomegaly when compared with those patients with a height over the 10th percentile (n=19). Serum ferritin levels in 20 patients with a weight under the 10th percentile were significantly higher than those in 30 patients with a height over the 10th percentile (9165.5+/-6042.5 mg/L vs 5567.3+/-4447.3 mg/L; P<0.05). Short stature, low weight and sex development delay are common in children with beta-thalassemia major. This may be related to iron overload.

  18. Thalassemia intermedia: An overview

    African Journals Online (AJOL)

    Rabah M. Shawky

    2012-04-25

    Apr 25, 2012 ... Hematopoietic stem cell transplantation: Hematopoietic stem cell transplantation (HSCT) is an established treat- ment for beta-thalassemia major [34], but it has rarely been used in patients with thalassemia intermedia [33]. The deci- sion as to which patients are eligible for transplantation is complex and is ...

  19. Visualization of the liver with sup(99m)Tc-EHDP in thalassemia major

    Energy Technology Data Exchange (ETDEWEB)

    Valdez, V.A.; Jacobstein, J.G.

    1981-05-15

    A case is reported in which substantial liver uptake of (sup(99m)Tc-hydroxyethylidene diphosphonate sup(99m)Tc-EHDP) was seen on bone scan. The patient, a 25-year-old male with the diagnosis of thalassemia major made at the age of 3 years, had received regular blood transfusions over many years. Clinical and laboratory evidence of hemosiderosis suggests that the presence of large quantities of iron in the liver of this patient may have been responsible for the hepatic uptake of the bone scanning agent.

  20. Visualization of the liver with /sub 99/mTc-EHDP in thalassemia major

    Energy Technology Data Exchange (ETDEWEB)

    Valdez, V.A.; Jacobstein, J.G.

    1981-01-01

    A case is reported in which substantial liver uptake of /sub 99/mTc-hydroxyethylidene diphosphonate (99mTC-EHDP) was seen on bone scan. The patient, a 25-year-old male with the diagnosis of thalassemia major made at the age of 3 years, had received regular blood transfusions over many years. Clinical and laboratory evidence of hemosiderosis suggests that the presence of large quantities of iron in the liver of this patient may have been responsible for the hepatic uptake of the bone scanning agent.

  1. Quality of life in thalassemia major: Reliability and validity of the Persian version of the SF-36 questionnaire

    Directory of Open Access Journals (Sweden)

    Jafari H

    2008-01-01

    Full Text Available Aims: The objective of this study was to determine the reliability and validity of the eight-item Short Form Health Survey (SF-36 questionnaire translated into Persian for use in Iranian patients with thalassemia major. Materials and Methods: Using a standard "forward-backward" translation procedure, the English language version of the questionnaire was translated into Persian. Two hundred patients with thalassemia major following up at the Thalassemia Center, Dastgheib Hospital, Shiraz, Iran, were enrolled in this study. Statistical Analysis: The reliability and internal consistency of the questionnaire were assessed by Cronbach′s alpha coefficient and Spearman′s correlation, respectively. Validity was assessed using convergent and discriminant validity. Results: The mean age of 200 subjects enrolled in the study was 19.81+/-4.07 years. Reliability analysis showed satisfactory results (Cronbach′s a coefficient = 0.915. The factor analysis showed that all items were in the same groups as previous studies with the exception of role emotional and general health that had been substituted. Most of the patients were in lower range of normal for both mental and physical summary status. Conclusions: The study finding showed that the Persian version of SF-36 questionnaire has a good structural characteristic and is a reliable and valid instrument for measuring the quality of life of patients with thalassemia major.

  2. Beta thalassemia major: The effect of age on glomerular filtration rate

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    Majid Malaki

    2011-01-01

    Full Text Available Thalassemia is a common hereditary hemoglobinopathy disorder that affects many organs in the body. Estimation of kidney function is important, as it is the vital organ that plays the major role in the elimination of accumulated iron as well as the chelating drugs that have to be used as therapy. Sixty- three patients aged 1-29 years, with a mean ± SD of 14 ± 6.7 years, affected with beta- thalassemia major in Tabriz Children′s Hospital were evaluated for their renal function on the basis of their age, serum iron, serum ferritin and serum creatinine levels along with two methods of estimating glomerular filtration rate (GFR; by Schwartz method for those under 18 years old and using Modification of Diet in Renal Disease (MDRD formula for those who were 18 years and above. Elevation of serum creatinine denoting renal dysfunction was not seen in our patients, but hyperfiltration was a common finding. An increasing GFR was observed, which corresponded to age, but no relationships were seen between serum iron, serum ferritin, regular blood transfusion, chelating therapy to GFR.

  3. Bone mineral density and calcium metabolism in adolescents with beta-thalassemia major.

    Science.gov (United States)

    Tantawy, Azza A; El Kholy, Mohamed; Moustafa, Tarek; Elsedfy, Heba H

    2008-10-01

    Bone disease in thalassemia in the form of low bone mass remains a frequent, debilitating and poorly understood problem, even among well transfused and chelated pre-pubertal and adult patients. In this work we attempted to delineate calcium status and bone mineral density in a group of transfusion dependent thalassemic adolescents of both sexes. Bone mineral density (BMD) at both the lumbar spine and femoral neck was measured in 40 adolescents with beta thalassemia major (TM) by DXA scanning and correlated to biochemical parameters including calcium, phosphorus, alkaline phosphatase, bone alkaline phosphatase, intact parathyroid hormone and 25-OH vitamin D as well as vitamin D receptor (VDR) gene polymorphisms at exon 2 (Fok1). Z-score of BMD at the lumbar spine (-3.3, +/-1.4) was significantly lower than at the femoral neck (-0.68, -/+1.3), (p=0.001). Serum ferritin and VDR genotype were related to BMD only at the femoral neck indicating that the factors determining the BMD at these 2 sites might be different. Seventy-five percent of patients had a low calcium level and hypoparathyroidism was present in 72.5% of patients. The low calcium level was probably caused by a combination of hypoparathyroidism and osteomalacia evidenced by elevated bone alkaline phosphatase presumably resulting from deficient calcium intake. To optimize BMD in TM, it is important to ensure adequate iron chelation and adequate intake of calcium and vitamin D.

  4. Compound heterozygous β+ β0 mutation of HBB gene leading to β-thalassemia major in a Gujarati family — A case study

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    Spandan Chaudhary

    2016-06-01

    Full Text Available β-Thalassemia is a genetic disease characterized by reduced or non-functionality of β-globin gene expression, which is caused due to a number of variations and indels (insertions and deletions. In this case study, we have reported a rare occurrence of compound heterozygosity of two different variants, namely, HBBc.92G>C and HBBc.92+5G>C in maternal amniotic fluid sample. Prenatal β-thalassemia mutation detection in fetal DNA was carried out using nucleotide sequencing method. After analysis, the father was found to be heterozygous for HBBc.92G>C (Codon 30 (G>C mutation which is β0 type and the mother was heterozygous for HBBc.92+5G>C (IVS I-5 (G>C mutation which is β+ type. When amniotic fluid sample was analyzed for β-globin gene (HBB, we found the occurrence of heterozygous allelic pattern for aforesaid mutations. This compound heterozygous state of fetus sample was considered as β+/β0 category of β thalassemia which was clinically and genotypically interpreted as β-thalassemia major. Regular blood transfusions are required for the survival of thalassemia major patients hence prenatal diagnosis is imperative for timely patient management. Prenatal diagnosis helps the parents to know the thalassemic status of the fetus and enables an early decision on the pregnancy. In the present study, we have identified compound heterozygosity for β-thalassemia in the fetus which portrays the importance of prenatal screening.

  5. Preclinical transfusion-dependent humanized mouse model of beta thalassemia major.

    Science.gov (United States)

    Huo, Yongliang; McConnell, Sean C; Ryan, Thomas M

    2009-05-07

    A preclinical humanized mouse model of beta thalassemia major or Cooley anemia (CA) was generated by targeted gene replacement of the mouse adult globin genes in embryonic stem cells. The mouse adult alpha and beta globin genes were replaced with adult human alpha globin genes (alpha2alpha1) and a human fetal to adult hemoglobin (Hb)-switching cassette (gamma(HPFH)deltabeta(0)), respectively. Similar to human infants with CA, fully humanized mice survived postnatally by synthesizing predominantly human fetal Hb, HbF (alpha(2)gamma(2)), with a small amount of human minor adult Hb, HbA2 (alpha(2)delta(2)). Completion of the human fetal to adult Hb switch after birth resulted in severe anemia marked by erythroid hyperplasia, ineffective erythropoiesis, hemolysis, and death. Similar to human patients, CA mice were rescued from lethal anemia by regular blood transfusion. Transfusion corrected the anemia and effectively suppressed the ineffective erythropoiesis, but led to iron overload. This preclinical humanized animal model of CA will be useful for the development of new transfusion and iron chelation regimens, the study of iron homeostasis in disease, and testing of cellular and genetic therapies for the correction of thalassemia.

  6. MR imaging of deferoxamine-induced bone dysplasia in an 8-year-old female with thalassemia major

    Energy Technology Data Exchange (ETDEWEB)

    Miller, T.T. (Dept. of Radiology and Nuclear Medicine, Hospital for Special Surgery, New York, NY (United States)); Caldwell, G. (Dept. of Orthopedic Surgery, Hospital for Special Surgery, New York, NY (United States)); Kaye, J.J. (Dept. of Radiology and Nuclear Medicine, Hospital for Special Surgery, New York, NY (United States)); Arkin, S. (Dept. of Pediatrics, Mount Sinai Medical Center, New York, NY (United States)); Burke, S. (Dept. of Orthopedic Surgery, Hospital for Special Surgery, New York, NY (United States)); Brill, P.W. (Dept. of Radiolgy, New York Hospital, Cornell Univ. Medical Center, New York, NY (United States))

    1993-11-01

    Bone changes in thalassemic patients receiving deferoxamine therapy for iron chelation include metaphyseal and growth plate irregularities. We present a case of an 8-year-old female with thalassemia major, who had magnetic resonance imaging after plain radiographs had shown metaphyseal changes in the distal femur. The signal characteristics of these abnormalities were consistent with hyaline cartilage; the surrounding marrow showed no evidence of iron overrload. (orig.)

  7. Overview of the current issues and advances in haemopoietic stem cell transplantation for β-thalassemia major

    OpenAIRE

    S.S. Anak

    2011-01-01

    Bone marrow transplantation (BMT) is the only possible curative treatment for β-thalassemia major. The largest experience occurred in Pesaro, Italy, where the BMT was applied after a standard risk assessment. The patients were divided into 3 risk classes based on liver size by physical examination, the presence or absence of fibrosis by liver biopsy, and adherence to regular iron chelation. Outcomes were mainly affected by the risk status. After modifications to the conditioning regimens...

  8. Alpha thalassemia among sickle cell anaemia patients in Kampala ...

    African Journals Online (AJOL)

    Objectives: To determine the prevalence of α+thalassaemia among sickle cell anaemia patients in Mulago Hospital and to describe the ... Concurrent alpha thalassemia might be a protective trait against significant hepatomegaly in sickle cell anaemia patients more than 60 ..... Pediatric Hematology and Oncology. 2002 ...

  9. The pancreas in {beta}-thalassemia major: MR imaging features and correlation with iron stores and glucose disturbunces

    Energy Technology Data Exchange (ETDEWEB)

    Papakonstantinou, Olympia [University Hospital of Heraklion, Medical School of Crete, Department of Radiology, Heraklion, Crete (Greece); Attikon Hospital, 2nd Department of Radiology, Athens (Greece); Ladis, Vasilios; Kostaridou, Stavroula; Berdousi, Helen; Kattamis, Christos [Thalassemia Unit, University of Athens, ' ' Aghia Sophia' ' Children' s Hospital, Athens (Greece); Maris, Thomas; Gourtsoyiannis, Nicholas [University Hospital of Heraklion, Medical School of Crete, Department of Radiology, Heraklion, Crete (Greece)

    2007-06-15

    The study aims at describing the MR features of pancreas in beta-thalassemia major, investigating the relations between MR findings and glucose disturbances and between hepatic and pancreatic siderosis. Signal intensity ratios of the pancreas and liver to right paraspinous muscle (P/M, L/M) were retrospectively assessed on abdominal MR imaging studies of 31 transfusion-dependent patients with beta-thalassemia major undergoing quantification of hepatic siderosis and 10 healthy controls, using T1- (120/4/90), intermediate in and out of phase - (120/2.7, 4/20), and T2*-(120/15/20) weighted GRE sequences. Using the signal drop of the liver and pancreas on opposed phase images, we recorded serum ferritin and results of oral glucose tolerance test (OGTT). Decreased L/M and P/M on at least the T2* sequence were noticed in 31/31 and 30/31 patients, respectively, but no correlation between P/M and L/M was found. Patients with pathologic OGTT displayed a higher degree of hepatic siderosis (p < 0.04) and signal drop of pancreas on opposed phase imaging (p < 0.025), implying fatty replacement of pancreas. P/M was neither correlated with glucose disturbances nor serum ferritin. Iron deposition in the pancreas cannot be predicted by the degree of hepatic siderosis in beta-thalassemia major. Fatty replacement of the pancreas is common and may be associated with glucose disturbances. (orig.)

  10. Conservative management of Beta-thalassemia major cases in the sub-division level hospital of rural West Bengal, India.

    Science.gov (United States)

    Bandyopadhyay, Ujjwal; Kundu, Dipankar; Sinha, Arijit; Banerjee, Kallol; Bandyopadhyay, Ranjana; Mandal, Tridibeshwar; Ray, Debes

    2013-01-01

    The ideal management of thalassemia involves a multidisciplinary therapeutic team approach and should be preferably done at a comprehensive thalassemia care center with all sorts of specialists and the backup of a well-equipped blood bank. However, in developing country like ours, these facilities are not available in rural set up. So, a situation where conservative therapy with regular blood transfusion is the only choice left to innumerable thalassemic children. To evaluate the existing conservative management protocol of Beta-thalassemia major patients in the setup of a subdivision level Government Hospital of rural West Bengal, India. The study was performed between December 2009 and December 2011. Beta-thalassemia major patients, registered in blood bank for moderate transfusion regimen, were taken in study. All the patients were screened for Transfusion Transmittable Infections at the time of registration and thereafter periodically every six months. Iron chelation therapy was given simultaneously with transfusion at a dose of 20 to 40 mg/kg/day for six days. The patients were advised to follow up with chelation therapy at home by daily infusion with a goal of maintaining serum ferritin level below 1000 ng/ml. Over this long period of study, the patients were periodically evaluated for complications. The average blood requirement (ml/kg/year) in 1-5 years, 6-10 years, and 11-15 years were 110, 150, and 180, respectively. Incidence of Hepatitis C Virus infection in 1-5 years and 6-10 years were 1.75% and 2.08%, respectively. It is well seen that serum ferritin level increase with ascending age as does the blood consumption. Conservative management may be the best alternative and at times the only hope for patients in developing country like ours. However, in order to decrease the disease load, steps need to be taken to introduce preventive measures.

  11. A new tool for the assessment of satisfaction with iron chelation therapy (ICT-Sat) for patients with β-thalassemia major.

    Science.gov (United States)

    Elalfy, Mohsen S; Massoud, Walid; Elsherif, Nayera H; Labib, Jonair H; Elalfy, Omar M; Elaasar, Safaa; von Mackensen, Sylvia

    2012-06-01

    High satisfaction with iron chelation is a major determinant for adherence to ICT in beta-thalassaemia major (β-TM) patients. In this study, a new tool to assess different domains of satisfaction for available forms of ICT was developed and validated. The impact of patients' satisfaction with ICT has been tested. Items were generated via focus groups and a preliminary version with 24 items (ICT-Sat) with an additional item for treatment preference and a knowledge questionnaire (KQ) was developed. 170 β-TM patients from three Thalassaemia centers in Egypt, aged 2-32 years received three questionnaires to fill in; the new ICT-Sat, a KQ, and a previously validated tool for satisfaction with ICT (SICT) and retested 4-6 weeks later to ensure re-test reliability. Type of chelation, drug related adverse events, compliance with ICT, and serum ferritin level (SF) during the year prior to the study as well as available cardiac T2*data were recorded. One hundred and fifty two β-TM patients completed all questionnaires; median age was 12 years. The final 15 remaining ICT-Sat items, yielding to four domain scores, explained 70.6% of the total variance. The "perceived effectiveness" and "fear and worries" domains of the ICT-Sat correlated significantly with the domains "perceived effectiveness" and "acceptance" of the SICT. Patients treated with oral ICT were more satisfied with perceived effectiveness, and their side effects. A new clinically based ICT-Sat tool was developed and revealed good psychometric characteristics. Adherence to ICT was better correlated with "perceived effectiveness" and SF level. Copyright © 2012 Wiley Periodicals, Inc.

  12. Factors associated with continuing emergence of β-thalassemia major despite prenatal testing: a cross-sectional survey.

    Science.gov (United States)

    Al Sabbah, Haleama; Khan, Sarah; Hamadna, Abdallah; Abu Ghazaleh, Lamia; Dudin, Anwar; Karmi, Bashar Adnan

    2017-01-01

    Health care initiatives focusing on prenatal testing and premarital genetic screening aiming to reduce the incidence of β-thalassemia have emerged during the last decade. In Palestine, 4% of the population are known thalassemia carriers with new cases continuing to appear despite the availability of prenatal testing. This study aims to identify factors that influence the decision to retain or abort fetuses affected by β-thalassemia in Palestine. Convenience sampling was used to select 32 women (72 fetuses) who were at risk of having a baby with β-thalassemia. A questionnaire on prenatal testing, test results, pregnancy outcomes, and factors influencing the decision to terminate the pregnancy were used for this cross-sectional study. The data were analyzed using SPSS version 17. Among the fetuses screened, 36 (50%) were thalassemia carriers and 20 (28%) had β-thalassemia; 17 (85%) affected fetuses were aborted. Religious beliefs were the most cited reason for opposing abortion while prior experience with β-thalassemia patients and awareness programs promoted abortions. Mothers who opted to retain an affected fetus had modest educational attainment. Higher educational level was significantly associated with the decision to abort an affected fetus (p<0.05). A religious consensus is needed on the abortion of fetuses affected by β-thalassemia. Improving female education and increasing awareness on thalassemia could help reduce the incidence of β-thalassemia in Palestine and around the world.

  13. BETA THALASSEMIA MAJOR IN A DEVELOPING COUNTRY: EPIDEMIOLOGICAL, CLINICAL AND EVOLUTIONARY ASPECT

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    Mohamed Bejaoui

    2013-01-01

    Full Text Available Beta-thalassemia major (TM remains to be one of the major health problems particularly in developing countries. Tunisia is a part of the Mediterranean countries mostly affected by this disease which is highly concentrated in small towns in families with low-income earners. The main objectives of this study are to provide a description of the demographic, clinical features and transfusion-related complications in patients with TM living in Tunisia. A standardized questionnaire was sent to clinicians throughout 33 different medical institutions caring for thalassemic patients. 391 transfusion dependant thalassemic patients with a median age of 10.7 years (range 3 months- 31 years were included in the study.The majority were originated from the north west of the country .A moderate overload between 1501 and 2500ng/ml was found in 61patients, while 81 patients (26.9% had ferritin level more than 2500 ng/ml and greater than 5000ng/ml in 21 patients (6.9%. 51 patients died from complications related to their disease. Heart failure was the main cause of death. The incidence of cardiac, endocrine, and infectious complications will be reviewed. Preventive measures such as health education, carrier screening and premarital screening remain the best ways for lowering the incidence of these diseases, which might be reflected in financial saving, social benefits and health benefits.

  14. Pregnancy in women with thalassemia: challenges and solutions

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    Petrakos G

    2016-09-01

    Full Text Available George Petrakos, Panagiotis Andriopoulos, Maria Tsironi Department of Nursing, University of Peloponnese, Sparta, Greece Abstract: Advances in treatment of thalassemia have led to the aging of thalassemic patients, and consequently concern about successful reproductive outcome is augmented. Although women with thalassemia intermedia only were considered competent of achieving pregnancy, case series reveal the willingness of both thalassemia major and thalassemia intermedia women to have a family. Pregnancy in general is characterized by dynamic multiple-system changes and increased susceptibility to oxidative stress, while homozygous, transfusion-dependent, β-thalassemia patients manifest cardiac, hepatic, endocrine, and metabolic disorders attributable to chronic anoxia and iron overload and thalassemia intermedia, usually nontransfused, is associated with augmented risk of thromboembolic events. Pregnancy in thalassemia should be considered a high risk for both mother and fetus, and favorable outcomes are the result of continuous preconception, antenatal, and postpartum assessment and management by a team of thalassemia experts. Keywords: thalassemia, pregnancy, chelation, transfusion, iron

  15. Transfusion complications in thalassemia patients: a report from the Centers for Disease Control and Prevention (CME).

    Science.gov (United States)

    Vichinsky, Elliott; Neumayr, Lynne; Trimble, Sean; Giardina, Patricia J; Cohen, Alan R; Coates, Thomas; Boudreaux, Jeanne; Neufeld, Ellis J; Kenney, Kristy; Grant, Althea; Thompson, Alexis A

    2014-04-01

    Transfusions are the primary therapy for thalassemia but have significant cumulative risks. In 2004, the Centers for Disease Control and Prevention (CDC) established a national blood safety monitoring program for thalassemia. This report summarizes the population and their previous nonimmune and immune transfusion complications. The CDC Thalassemia Blood Safety Network is a consortium of centers longitudinally following patients. Enrollment occurred from 2004 through 2012. Demographics, transfusion history, infectious exposures, and transfusion and nontransfusion complications were summarized. Logistic regression analyses of factors associated with allo- and autoimmunization were employed. The race/ethnicity of these 407 thalassemia patients was predominantly Asian or Caucasian. The mean ± SD age was 22.3 ± 13.2 years and patients had received a mean ± SD total number of 149 ± 103.4 units of red blood cells (RBCs). Multiorgan dysfunction was common despite chelation. Twenty-four percent of transfused patients had previous exposure to possible transfusion-associated pathogens including one case of babesia. As 27% were immigrants, the infection source cannot be unequivocally linked to transfusion. Transfusion reactions occurred in 48%, including allergic, febrile, and hemolytic; 19% were alloimmunized. Common antigens were E, Kell, and C. Years of transfusion was the strongest predictor of alloimmunization. Autoantibodies occurred in 6.5% and were associated with alloimmunization (p transfusion practices. Hemosiderosis, transfusion reactions, and infections continue to be major problems in thalassemia. New pathogens were noted. National guidelines for RBC phenotyping and preparation are needed to decrease transfusion-related morbidity. © 2013 American Association of Blood Banks.

  16. Red cell alloantibodies in thalassemia major. Results of an Italian cooperative study.

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    Sirchia, G; Zanella, A; Parravicini, A; Morelati, F; Rebulla, P; Masera, G

    1985-01-01

    Clinical and serological data on 1435 Italian thalassemia major patients were collected during a cooperative study involving 19 centers in 10 regions. The main findings were as follows: 18 percent of the patients were under 6 years of age, 63 percent between 6 and 15, and 19 percent over 15. Forty-one percent had undergone splenectomy. Sixty-two percent of the patients were maintained at pretransfusion hemoglobin levels higher than 10 g per dl, 36 percent between 8 and 10 g per dl, and 2 percent below 8 g per dl. Overall, 5.2 percent of the patients had clinically significant red cell alloantibodies (136 alloantibodies in 74 patients). One-half of the immunized patients had more than one and one-fourth had more than two alloantibodies. The specificities of the 136 alloantibodies were almost exclusively confined to the common antigens of the Rh, Kell, Kidd, and Duffy systems, in that decreasing order of frequency. The antibody screening procedure, using a low-ionic-strength solution antiglobulin test against a three-red-cell panel and the patient's own red cells (autocontrol) with a serum to cell ratio of 100 to 1 was shown to be an adequate technique for red cell antibody detection.

  17. Burden of Cardiac Siderosis in a Thalassemia-Major Endemic Population: A Preliminary Report From Pakistan.

    Science.gov (United States)

    Alvi, Najveen; Tipoo, Fateh A; Imran, Ahmed; Ashraf, Muhammad N; Qidwai, Asim; Khursheed, Mohammed; Moiz, Bushra; Adil, Salman N; Fadoo, Zehra; Altaf, Sadaf; Pennell, Dudley J; Hasan, Babar S

    2016-07-01

    To describe the initial experience and demographics of T2* cardiac magnetic resonance-based myocardial-iron quantification of transfusion-dependent thalassemia-major (TM) patients from Pakistan and the correlation with serum ferritin. Eligible TM patients presenting between April 2014 and April 2015 to Aga Khan University Hospital, Pakistan, for T2*CMR were included. The severity of myocardial-iron deposition was defined as follows: normal T2*>20 ms, mild-moderate T2*10 to 20 ms, and severe T2*functional classification. Echocardiographic systolic and diastolic functions were performed. Continuous variables were presented as the median (minimum-maximum value). Correlation was measured using the Spearman rank correlation. Multivariate logistic regression was used to determine factors associated with the NYHA functional class. A total of 83 patients (49 male and 34 female) with TM, age 19 (5 to 45) years at presentation for T2*CMR, were reviewed. At presentation, 70% of the patients were classified as NYHA class II or worse. T2*functional class. There is a high prevalence of severe myocardial iron load in Pakistani TM patients. Serum ferritin did not correlate with T2* values. Lower T2* was the only clinical factor associated with the NYHA functional class.

  18. Investigating Challenges Facing Self-Management Empowerment Education in Adolescents and Youths with Major Thalassemia

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    Razzazan

    2014-10-01

    Full Text Available Background Thalassemia is considered an important public health problem worldwide, especially in developing and poor countries. Although several advanced techniques have been developed for prevention of thalassemia in the recent years, many adolescents and youths are still living with this disease. Independence from parents, decisions about high-risk behaviors, uncovering the identity, and adapting to mental and physical effects of the disease occur together in adolescents. Objectives This study was conducted to explore challenges of self-management empowerment in adolescents and youths with major thalassemia. Materials and Methods This was a descriptive-exploratory study. The study population consisted of adolescents and youths with major thalassemia who had medical records in the Bushehr Thalassemia Center, affiliated with Bushehr University of Medical Sciences. The study samples were purposively selected. Demographic information questionnaire and empowerment questionnaire were used to collect data from the semistructured interview. We analyzed qualitative data by content analysis method and quantitative data by descriptive (mean, standard deviation and analytical (Student's t-test, ANOVA and Pearson’s correlation coefficient statistical methods, using the statistical software SPSS 18. Results In qualitative part of the study, data from semistructured in-depth interviews with 15 participants were coded and summarized in five themes including: 1 awareness of personal changes; 2 need for adaptation; 3 maintaining independence and self-management; 4 uncovering the identity and role playing; and 5 sense of control and satisfaction. Results of the quantitative part showed that the overall score of participants on empowerment was 92.46 of 149 scores, which showed a moderate situation in the empowerment of these individuals. In addition, the empowerment score showed no statistically significant correlation with demographic characteristics

  19. Factors associated with continuing emergence of β-thalassemia major despite prenatal testing: a cross-sectional survey

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    Al Sabbah H

    2017-09-01

    Full Text Available Haleama Al Sabbah,1 Sarah Khan,1 Abdallah Hamadna,2 Lamia Abu Ghazaleh,2 Anwar Dudin,2 Bashar Adnan Karmi3 1College of Natural and Health Sciences, Zayed University, Dubai, UAE; 2Faculty of Medicine, An-Najah National University, Nablus, Palestine; 3Thalassemia Patients’ Friends Society, Ramallah, Palestine Purpose: Health care initiatives focusing on prenatal testing and premarital genetic screening aiming to reduce the incidence of β-thalassemia have emerged during the last decade. In Palestine, 4% of the population are known thalassemia carriers with new cases continuing to appear despite the availability of prenatal testing. This study aims to identify factors that influence the decision to retain or abort fetuses affected by β-thalassemia in Palestine. Methods: Convenience sampling was used to select 32 women (72 fetuses who were at risk of having a baby with β-thalassemia. A questionnaire on prenatal testing, test results, pregnancy outcomes, and factors influencing the decision to terminate the pregnancy were used for this cross-sectional study. The data were analyzed using SPSS version 17. Results: Among the fetuses screened, 36 (50% were thalassemia carriers and 20 (28% had β-thalassemia; 17 (85% affected fetuses were aborted. Religious beliefs were the most cited reason for opposing abortion while prior experience with β-thalassemia patients and awareness programs promoted abortions. Mothers who opted to retain an affected fetus had modest educational attainment. Higher educational level was significantly associated with the decision to abort an affected fetus (p<0.05. Conclusion: A religious consensus is needed on the abortion of fetuses affected by β-thalassemia. Improving female education and increasing awareness on thalassemia could help reduce the incidence of β-thalassemia in Palestine and around the world. Keywords: abortion, Islam, fetus, awareness

  20. MRI of the liver and the pituitary gland in patients with {beta}-thalassemia major: Does hepatic siderosis predict pituitary iron deposition?

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    Argyropoulou, Maria I.; Efremidis, Stavros C. [Department of Radiology, Medical School, University of Ioannina, 45110 Ioannina (Greece); Kiortsis, Dimitrios N. [Laboratory of Physiology, Medical School, University of Ioannina, 45110 Ioannina (Greece)

    2003-01-01

    Our objective was to study, in thalassemic patients, if hepatic siderosis evaluated by MRI could predict the pituitary iron overload. In 36 thalassemic patients (age range 6-44 years, mean age 21.7 years) the liver/fat ratio (L/F), the pituitary/fat ratio (P/F), the liver and pituitary T2 relaxation times were evaluated, by using a multiecho spin-echo sequence. Serum ferritin levels were measured and an extensive endocrine evaluation was performed. The L/F, the P/F and pituitary T2 showed a good correlation with serum ferritin (r=-0.55, r=-0.55 and r=-0.53, respectively; p<0.01). Liver T2 did not show significant correlation with serum ferritin. The variability of L/F explained only the 10.8% of the variability of pituitary T2 and of the P/F. When ferritin was added to the model it predicted only the 26.85% and the 30.8% of the variability of pituitary T2 and of the P/F, respectively. The P/F and pituitary T2 were lower in patients with hypogonadotropic hypogonadism (group 1) compared with those without pituitary dysfunction (group 2). No significant differences of L/F were found between the two groups. Hepatic iron overload evaluated by MR is a poor predictor of pituitary siderosis. The MR studies of the pituitary gland might be necessary to evaluate the pituitary iron overload. (orig.)

  1. PSYCHOLOGICAL EVALUATION IN PREGNANT WOMEN AFFECTED BY THALASSEMIA MAJOR: TRAITS AND PERSONALITY

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    Giuseppina Messina

    2010-01-01

    Full Text Available Background. The reproductive and sexual health issues concerning persons affected by thalassemia major are complex. The study was planned to investigate the psychological attitudes and expectations in a group of thalassemic pregnant women attending hospital for regular blood transfusion. Methods. The study included 20 consecutive thalassemic patients and a control group of 42 healthy pregnant volunteers. We evaluated the personality structure by Rorschach's test and the presence of psychic symptoms by SCL-90-R and STAI. Results. Narcissism and sexual traumas are significantly higher in thalassemic women with respects to the control group. Also the percent of anxiety and depression observed with the SCL-90-R was significantly higher than in control group. The score observed with the STAI shows that the state of anxiety changed significantly between thalassemic pregnant women and the control group, even though the scores values aren’t pathologic in neither group. Conclusions. This study addresses the need for developing, implementing and evaluating proper psychological support for thalassemic pregnant patients. The limit of this study is to analyze just thalassemic women because it doesn’t consider other pathologies; so the results can’t be extended to other pathologies different from thalassemic. Moreover, psychological screening and support prior to, during and following pregnancy would be indicated. Since not there are psychological studies in literature on the pregnancy in the thalassemic patients, the evaluation of the effects of pregnancy on the thalassemic disease will be the aim of future psychological investigations.

  2. Patterns of physical growth and dental development in Jordanian children and adolescents with thalassemia major.

    Science.gov (United States)

    Hattab, Faiez N

    2013-03-01

    Dental development and physical growth are of particular interest in pediatric dentistry and orthodontics. This study evaluated these variables in patients with thalassemia major (TM). Physical growth was assessed in 54 patients (31 males and 23 females) aged 5.5 to 18.3 years and dental development was analyzed using panoramic radiographs from 39 of the 54 patients. The Demirjian system was used to characterize dental development of the seven left mandibular permanent teeth. Chronologic age (CA) and dental age (DA) were compared using the paired t-test, and the correlation between CA and extent of delay in dental development (DA minus CA) was assessed using Pearson's correlation coefficients. Growth retardation (development in 31 of 39 (79.5%) of participants (mean delay, 1.12 years in males and 0.81 years in females; range, 0.1 to 2.7 years). The mean difference between CA and DA was 0.97 years (P adolescents with TM, the proportions of those who had short stature, were underweight, and had a low growth rate increased with age. In addition, participants had significant delays in dental development.

  3. Study of alpha hemoglobin stabilizing protein expression in patients with β thalassemia and sickle cell anemia and its impact on clinical severity.

    Science.gov (United States)

    Mahmoud, Hanan Mohamed; Shoeib, Ahmed Al-Saiid Hamed; Abd El Ghany, Shereen Mohamed; Reda, Marwa Mohamed; Ragab, Iman Ahmed

    2015-12-01

    The α hemoglobin stabilizing protein (AHSP) binds α-Hb and prevents its precipitation limiting free α-Hb toxicities. Our aim was to study AHSP expression in β thalassemia syndromes in relation to their clinical severity and to compare it with its level in sickle cell anemia. We compared patients with β-thalassemia (n=37) (β-thalassemia major (BTM) (n=19) and β-thalassemia intermedia (BTI) (n=18)) with 12 patients with sickle cell anemia as regards clinical severity, age at presentation, transfusion dependency, mean pre-transfusion hemoglobin level, use of hydroxyurea and AHSP expression by real time quantitative PCR. Median (and IQR) AHSP expression was significantly higher in patients with sickle cell anemia 2275 (3898) compared to thalassemia 283 (718), P=0.001, with no significant difference between BTM and BTI (P=0.346). It was also significantly higher in non-transfusion dependent patients with β thalassemia (NTDT) compared to transfusion dependent ones (P=0.019), and in patients on hydroxyurea therapy (Psickle cell anemia versus thalassemia, with no significant difference between BTM and BTI. Expression was higher in patients with NTDT and on hydroxyurea therapy. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Detection of Left Ventricular Regional Function in Asymptomatic Children with beta-Thalassemia Major by Longitudinal Strain and Strain Rate Imaging

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    Ali Bay

    2013-09-01

    Full Text Available Objective: Cardiac failure due to iron overload remains the most common cause of death in patients with beta-thalassemia major. This study aimed to evaluate myocardial function in children with beta-thalassemia major using standard echocardiography technique and strain rate imaging. Materials and Methods: Conventional echocardiographic analysis, tissue velocity imaging, and strain/strain rate imaging of the left ventricle were evaluated in 48 children with beta thalassemia major (19 girls, 29 boys; 8.39±4.05 years and 22 healthy children (11 girls, 11 boys; 8±3.72 years. Results: Conventional echocardiographic examinations revealed that beta-thalassemia patients had larger left ventricular end-systolic diameter, end-diastolic and end-systolic volume, left ventricular mass index, and mitral early/late diastolic flow velocity ratio (p<0.05. Strain and strain rate imaging study of the basal lateral wall of the left ventricle was higher in patients than in controls, at p=0.035 and p=0.008, respectively. Conclusion: We found that superior systolic strain and strain rate imaging of the left ventricle indicated the presence of regional systolic function in the left ventricular wall. We suggest that left ventricle volume and mass index parameters might be more sensitive than the other conventional and strain/strain rate imaging parameters during childhood. However, the adulthood strain and strain rate imaging values may be lower than controls, exceeding the critical level of iron overload.

  5. Compound heterozygous β(+) β(0) mutation of HBB gene leading to β-thalassemia major in a Gujarati family - A case study.

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    Chaudhary, Spandan; Dhawan, Dipali; Bagali, Prashanth G; S Chaudhary, Pooja; Chaudhary, Abhinav; Singh, Sanjay; Vudathala, Srinivas

    2016-06-01

    β-Thalassemia is a genetic disease characterized by reduced or non-functionality of β-globin gene expression, which is caused due to a number of variations and indels (insertions and deletions). In this case study, we have reported a rare occurrence of compound heterozygosity of two different variants, namely, HBBc.92G > C and HBBc.92 + 5G > C in maternal amniotic fluid sample. Prenatal β-thalassemia mutation detection in fetal DNA was carried out using nucleotide sequencing method. After analysis, the father was found to be heterozygous for HBBc.92G > C (Codon 30 (G > C)) mutation which is β(0) type and the mother was heterozygous for HBBc.92 + 5G > C (IVS I-5 (G > C)) mutation which is β(+) type. When amniotic fluid sample was analyzed for β-globin gene (HBB), we found the occurrence of heterozygous allelic pattern for aforesaid mutations. This compound heterozygous state of fetus sample was considered as β(+)/β(0) category of β thalassemia which was clinically and genotypically interpreted as β-thalassemia major. Regular blood transfusions are required for the survival of thalassemia major patients hence prenatal diagnosis is imperative for timely patient management. Prenatal diagnosis helps the parents to know the thalassemic status of the fetus and enables an early decision on the pregnancy. In the present study, we have identified compound heterozygosity for β-thalassemia in the fetus which portrays the importance of prenatal screening.

  6. Papillary Fibroelastoma as a Cause of Cardiogenic Embolic Stroke in a β-Thalassemia Patient: Case Report and Literature Review

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    Re-I Chin

    2017-01-01

    Full Text Available We describe a case of a young male without stroke risk factors who presented with a sudden onset of left-sided weakness, left hand numbness, and left eye blurriness. CT scan of the head without contrast and diffusion-weighted MRI of the brain with contrast revealed an ischemic stroke in the right middle cerebral artery distribution. Transesophageal echocardiography (TEE revealed a mobile pedunculated mass on the posterior surface of the mitral valve. This mass was resected and pathology showed a cardiac papillary fibroelastoma (CPFE, which was determined to be the cause of the patient’s cardioembolic stroke. Further workup also found that patient had microcytic anemia secondary to β-thalassemia intermedia, a rare hematologic disorder due to defective hemoglobin synthesis. Recently, another case report suggested β-thalassemia major may underlie the pathogenesis of CPFE. β-Thalassemia major causes a state of chronic inflammation and endothelial damage, which can mediate CPFE formation. Based on literature review, this is the first case report of a CPFE in a patient with β-thalassemia intermedia. This hypothesis-generating case report calls attention to the need for elucidating the relationship between CPFE and β-thalassemia in future studies to better understand the diagnosis and management of a rare cardiac tumor.

  7. The effects of beta-carotene and vitamin E on erythrocytes lipid peroxidation in beta-thalassemia patients

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    Soleiman Mahjoub

    2007-12-01

    Full Text Available BACKGROUND: Thalassemia is the most common hereditary disease in the world. Thalassemic erythrocytes are exposed to higher oxidative stress and lipid peroxidation. The aim of this study was to investigate the effects of beta-carotene and vitamin E on erythrocytes lipid peroxidation in beta-thalassemia patients.
    METHODS: A prospective double-blind, placebo-controlled study of the effect of beta-carotene and vitamin E on lipid peroxidation in erythrocytes membranes was performed on 120 beta-thalassemia major patients in four groups. The patients were supplemented for 4 weeks as follows: group 1 with beta-carotene (13 mg/day, group 2 with vitamin E (550 mg/day, group 3 with beta-carotene plus vitamin E and group 4 with placebo. We prepared all capsules for 4 roups in the same shape and color. Measurements of serum beta-carotene and vitamin E were performed by high performance
    liquid chromatography. After preparation of ghost cells from blood specimens, malondialdehyde (MDA was determined as index of lipid peroxidation in erythrocytes membranes before and after treatment. RESULTS: The levels of serum beta-carotene and vitamin E were significantly lower and MDA concentrations in erythrocytes membranes were significantly higher in beta-thalassemia patients compared to controls (P<0.001. In groups that treated with vitamin supplements for 4-weeks, lipid peroxidation rates were significantly reduced after treatment (P<0.001, but in placebo group there was not significant difference (P>0.05.
    CONCLUSIONS: Our findings provide evidence that an oral treatment with beta-carotene and vitamin E can significantly reduce lipid peroxidation of erythrocytes membranes and could be useful in management of beta-thalassemia major patients. KEYWORDS: Beta-thalassemia major, beta-carotene, vitamin E, malondialdehyde, lipid peroxidation.

  8. α:Non–α and Gγ:Aγ globin chain ratios in thalassemia intermedia patients treated with hydroxyurea

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    Abbas Najjari

    2014-05-01

    Conclusions: Improvement in α:non-α ratio and consequent decrease of free α-globin chain might be the cause of beneficial effects of hydroxyurea therapy. Two patients who felt better didn't show significant increase in their fetal hemoglobin level, and this is in contradiction with the hypothesis claiming that the HbF level increase is the cause of such therapeutic effect. In spite of the unclear mechanism of action of this drug, hydroxyurea therapy had noticeable impacts on thalassemia intermedia and also sickle cell disease and even patients suffering from thalassemia major.

  9. Quantitative T2* magnetic resonance imaging for evaluation of iron deposition in the brain of β-thalassemia patients.

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    Akhlaghpoor, S; Ghahari, A; Morteza, A; Khalilzadeh, O; Shakourirad, A; Alinaghizadeh, M R

    2012-09-01

    Iron overload is a common clinical problem in patients with β-thalassemia major. The purpose of this study was to assess the presence of excess iron in certain areas of the brain (thalamus, midbrain, adenohypophysis and basal ganglia) in patients with β-thalassemia major and evaluate the association with serum ferritin and liver iron content. A cross-sectional study on 53 patients with β-thalassemia major and 40 healthy controls was carried out. All patients and healthy controls underwent magnetic resonance imaging (MRI) examinations of the brain and liver. Multiecho fast gradient echo sequence was used and T2* values were calculated based on the Brompton protocol. Correlations between T2* values in the brain with T2* values in the liver as well as serum ferritin levels were investigated. There were no significant differences between patients and healthy controls with respect to age and sex. Patients had significantly lower T2* values in basal ganglia (striatum), thalamus and adenohypophysis compared to controls while there were no differences in the midbrain (red nucleus). There were no significant correlations between liver T2* values or serum ferritin with T2* values of basal ganglia (striatum), thalamus and adenohypophysis in patients or healthy controls. There were no significant correlations between T2* values of adenohypophysis and thalamus or basal ganglia (striatum) while these variables were significantly correlated in healthy controls. Serum ferritin and liver iron content may not be good indicators of brain iron deposition in patients with β thalassemia major. Nevertheless, the quantitative T2* MRI technique is useful for evaluation of brain iron overload in β thalassemia major patients.

  10. Termination of pregnancy due to Thalassemia major, Hemophilia, and Down's Syndrome: the views of Iranian physicians

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    Zareifar Soheila

    2008-12-01

    Full Text Available Abstract Background Genetic disorders due to kindred marriages are common medical conditions in Iran; however, the legal aspects of abortion remain controversial. This study was undertaken to determine physicians' opinions regarding the termination of pregnancy for three genetic diseases: thalassemia major, hemophilia, and Down's syndrome. Methods A questionnaire was administered to selected physicians by stratified random sampling to determine the following: age, gender, knowledge about prenatal diagnosis of diseases in high risk pregnancies, agreement with abortion, recommended gestational age for abortion, and, if opposed to abortion, the reason. Results Of 323 physicians, who participated in the study, 91.3(295, 40.6(131, and 78.6%(254 were in agreement and 8.7(28, 59.4(192, and 21.4%(69 were opposed to abortion for thalassemia major, hemophilia, and Down's syndrome, respectively. Among 289 physicians opposed to abortion in respect of each of all three conditions, the following reasons were cited: religion, 18; emotional, 10; quality of care, 23; hope to find a new treatment option in the future, 103; miscellaneous reasons, 6; and a combination of these reasons, 129. Among 680 physicians in agreement with abortion in relation to all of the diseases, 4.6%(31 were agreed with abortion in less than 12 weeks gestation, 79.2%(538 in less than 16 weeks gestation, 5.6%(38 in less than 20 weeks gestation, 2.2%(15 in less than 24 weeks gestation, and 8.4%(58 were agreed with beyond the 24 weeks of gestational age. Conclusion The majority of physicians were in agreement with abortion for thalassemia major and Down's syndrome because of the overall prognosis, but opposed to abortion for hemophilia.

  11. Critical appraisal of discriminant formulas for distinguishing thalassemia from iron deficiency in patients with microcytic anemia.

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    Urrechaga, Eloísa; Hoffmann, Johannes J M L

    2017-08-28

    Many discriminant formulas have been reported for distinguishing thalassemia trait from iron deficiency in patients with microcytic anemia. Independent verification of several discriminant formulas is deficient or even lacking. Therefore, we have retrospectively investigated discriminant formulas in a large, well-characterized patient population. The investigational population consisted of 2664 patients with microcytic anemia: 1259 had iron deficiency, 1196 'pure' thalassemia trait (877 β- and 319 α-thalassemia), 150 had thalassemia trait with concomitant iron deficiency or anemia of chronic disease, and 36 had other diseases. We investigated 25 discriminant formulas that only use hematologic parameters available on all analyzers; formulas with more advanced parameters were disregarded. The diagnostic performance was investigated using ROC analysis. The three best performing formulas were the Jayabose (RDW index), Janel (11T), and Green and King formulas. The differences between them were not statistically significant (p>0.333), but each of them had significantly higher area under the ROC curve than any other formula. The Jayabose and Green and King formulas had the highest sensitivities: 0.917 both. The highest specificity, 0.925, was found for the Janel formula, which is a composite score of 11 other formulas. All investigated formulas performed significantly better in distinguishing β- than α-thalassemia from iron deficiency. In our patient population, the Jayabose RDW index, the Green and King formula and the Janel 11T score are superior to all other formulas examined for distinguishing between thalassemia trait and iron deficiency anemia. We confirmed that all formulas perform much better in β- than in α-thalassemia carriers and also that they incorrectly classify approximately 30% of thalassemia carriers with concomitant other anemia as not having thalassemia. The diagnostic performance of even the best formulas is not high enough for making a final

  12. Pregnant women affected by thalassemia major: A controlled study of traits and personality

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    Giuseppina Messina

    2010-01-01

    Full Text Available Background: The reproductive and sexual health issues concerning persons affected by thalassemia major are complex. The study was planned to investigate the psychological attitudes and expectations in a group of thalassemic pregnant women attending hospital for regular blood transfusion. Methods: This is a preliminary cross-sectional study involving 20 consecutive thalassemic patients and a control group of 42 healthy pregnant volunteers. The personality structure was evaluated by Rorschach′s test and the presence of psychic symptoms by SCL-90-R and STAI. Results: Narcissism and sexual traumas are significantly higher in thalassemic women with respects to the control group. Also the percent of anxiety and depression observed with the SCL-90-R was significantly higher than in control group (45% vs. 3%, p < 0.001, mean and SD values are 1.65 ΁ 0.15 vs. 0.43 ± 0.18 for anxiety; 55% vs. 12%, p < 0.001, mean and SD values are 1.76 ± 0.18 vs. 0.85 ± 0.25 for depression. The score observed with the STAI shows that the trait of anxiety differed between thalassemic pregnant women and the control group, even though the score values aren′t pathologic in neither group (87% vs. 42%, p < 0.05, mean and SD values are 33 ± 0.8 vs. 22 ± 0.2. Conclusions: This study addresses the need for developing, implementing and evaluating proper psychological support for thalassemic pregnant patients. Moreover, psychological screening and support prior to, during and following pregnancy would be indicated.

  13. Shortened of the crown and root lengths of the mandibular permanent molar in beta major thalassemia children

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    Indra Primathena

    2011-07-01

    Full Text Available Beta major thalassemia is a genetically inherited blood disorder due to a genetic mutation on the polypeptide chains of hemoglobin which is manifested in the growth and development of the tooth. The objectives of the investigation were to obtain differences of the crown and root lengths of the mandibular first right side permanent molar between beta major thalassemia children and normal children group at the matching ages of 11 to 13 years old. The descriptive comparative method was used in the study and samples were selected using the purposive sampling technique. Sample numbers, which were obtained using the consecutive sampling technique, consists of 12 children of beta major thalassemia and 12 of normal children at the matching ages of 11 to 13 years. Periapical radiographs of both thalassemia and normal children were administered using the method of Seow and Lai. Data were analyzed using t-test method. The study revealed that the crown and root lengths of the mandibular first right side permanent molar of beta major thalassemia children were shorter than normal children at the ages of 11 to 13 years.

  14. Prevalence and Intensity of Depression in Mothers of Children with Beta-Thalassemia Major In Talghani Hospital of Gorgan, Iran

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    Nargesbeygom Mirbehbahani

    2014-01-01

    Full Text Available Background: Thalassemia is a chronic disease that it leads to psychological and social problems for parents. Mothers are at markedly increased risk of suffering from psychological distress and depression because they usually take on a considerable part of extra care that their children need.This study was designed to determine prevalence and intensity of depression in mothers with a thalassemic child. Material and Methods: In this cross – sectional study, 65 mothers of children with thalassemia major (case group and 65 mothers of children without thalassemia major (control group were assessed using the Beck Depression Inventory (BDI. Data were analyzed by using SPSS (v 16.0 for windows. Results: Prevalence of depression was significantly higher in case group than that in control group (84.6%vs. 56.9%, p <0.05. Moderate depression had a highest prevalence in the both groups (33.4% in case group and 30.8% in control group. Prevalence of severe depression in case group was markedly higher than that in control group (29.2% vs. 3.1% p<0.05. There was a significant difference between intensity of depression in mothers of case group that had another child with beta-thalassemia major (p<0.05. Conclusion: Mothers of children with thalassemia major are vulnerable to depression. They need psychosocial support to promote their health.

  15. Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations.

    Science.gov (United States)

    Murru, S; Loudianos, G; Deiana, M; Camaschella, C; Sciarratta, G V; Agosti, S; Parodi, M I; Cerruti, P; Cao, A; Pirastu, M

    1991-03-15

    In this study, we have defined by dot-blot analysis with allelic specific oligonucleotide probes or direct sequencing on amplified DNA the beta-thalassemia mutations in a large group of patients (23) of Italian descent with thalassemia intermedia. These patients had one parent with either the silent beta-thalassemia carrier phenotype or borderline-normal hemoglobin A2 (HbA2) levels (2.5% to 3.5%). Nearly all were genetic compounds for a severe beta-thalassemia mutation and a beta-thalassemia mutation associated with high residual output of beta-globin chains (beta + intervening sequence [IVS]-I-nt6, beta -87, beta -101), indicating that inheritance of a mild beta-thalassemia allele, even in a single dose, is the most common molecular mechanism producing thalassemia intermedia in the Italian population. In three cases, in whom we failed to define by dot-blot analysis the mutations, we sequenced the beta + globin gene and found three novel beta-thalassemia mutations, which are certainly very rare because they have been hitherto detected solely in a single patient. These mutations consist of: (1) a T-A substitution at position 2 of IVS-I, in a patient compound heterozygote for this mutation and the -87 promoter mutation; (2) a G-C substitution at position 844 of IVS-II, in a patient heterozygous for this mutation who showed normal sequences at the in trans beta-globin gene (The reason for the presence of clinical manifestations in a beta-thalassemia heterozygote has not been defined.); and (3) a deletion of one nucleotide (-T) at codon 126, resulting in a frameshift and readthrough of the 5' untranslated region and most likely producing an elongated Hb molecule of 156 amino acid residues, in a patient heterozygous for this mutation with normal beta-globin gene sequences at the other locus.

  16. Action of a specific iron chelate for the metabolism of iron-59 in subjects affected with thalassemia major. [Desferal

    Energy Technology Data Exchange (ETDEWEB)

    Clemente, G.F.; Ingrao, G.; Bianco, I.; Lerone, M.

    1982-01-01

    Some subjects, ranging in age from 6 to 12 years, suffering with thalassemia major, which causes a continuous iron overload in most organs and tissues of the patients, were treated with Desferal, an iron-chelating agent. Supposing that iron accumulates both in the reticuloendothelial and parenchymatous cells, particularly in liver and myocardium, where its overload is very dangerous, we have tried to identify the exact site of action of Desferal. Therefore the patients were injected with a /sup 59/Fe solution and treated regularly with a chelating therapy with Desferal. Measurements of the /sup 59/Fe body burden were made during a period of about 6 months post injection and measurements of /sup 59/Fe and stable iron in blood, urine, and feces samples during a period of about 1 month post injection.

  17. ASSESSMENT OF FREQUENCY OF ALLOIMMUNIZATION AND ERYTHROCYTE AUTOIMMUNIZATION IN TRANSFUSION DEPENDENT THALASSEMIA PATIENTS

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    S. Ansari

    2008-05-01

    Full Text Available Life-long red blood transfusion remains the main treatment for severe thalassemia. The development of hemolytic alloantibodies and erythrocyte autoantibodies complicated transfusion therapy in thalassemia patients. The frequency causes and prevention of this phenomenon among 80 transfused thalassemia patients were evaluated in Ali Asghar Children's Hospital during 1998-2004 in a cross-sectional study. In our study the mean age at the initiation of transfusion was 1.7 years (SD = 1.94 and mean interval of transfusion 33.73 day (SD = 20.74. Autoimmunization in 15 patients was positive and 8 patients had hemolytic reaction in transfusion. Our data show that alloimmunization to minor erythrocyte antigens and erythrocyte autoimmunization of significant clinical variables, are frequent findings in transfused thalassemia patients. However data suggest that prevalence of immunization in our patients is less than other Asian countries.

  18. Beta-thalassemia

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    Origa Raffaella

    2010-05-01

    Full Text Available Abstract Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands, dilated myocardiopathy, liver fibrosis and cirrhosis. Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes, gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely

  19. Beta-thalassemia.

    Science.gov (United States)

    Galanello, Renzo; Origa, Raffaella

    2010-05-21

    Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands), dilated myocardiopathy, liver fibrosis and cirrhosis). Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes), gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta

  20. A new donor system for the patients with thalassemia: "Blood mother and blood father"

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    Canatan Duran

    2010-01-01

    Full Text Available Background : Donor recruitment programs differ in countries depending on local conditions and causes. Regularly voluntary blood donation rate should be 5% of the population but it is extremely low in Turkey. In 1998, "Thalassemia flowers don′t fade" campaigning was started to get regular voluntary blood for patients with thalassemia. We would like to present results of our campaigning. Materials and Methods: The Thalassemia center was established in Antalya on the 1 st June 1994 by Ministry of Health, Turkey, because the incidence of thalassemia is very high in the Antalya region. A total of 388 patients with thalassemia were followed up regularly in the center. The annually blood requirement was approximately 5000 units per year. In 1998, a new program of blood donation for patients with thalassemia called "BLOOD MOTHER and BLOOD FATHER" was started with the support of Governor of Antalya and health management system in Antalya. Results : Between year 1998 and 2006, a total 3000 voluntary blood donors between age 18 and 65 years, of which 2160 males (72% and 840 were females (28%, had participated in this program. Conclusion: "Blood Mother and Blood Father" campaign was successful donor recruitment program for thalassemic care. After 2006, this program is now adopted and run by Turkish Red Crescent and Thalassemia Federation of Turkey for all thalassemics in Turkey.

  1. Evidence of Increased Hemolysis after Open Heart Surgery in Patients Heterozygous for Beta-Thalassemia

    OpenAIRE

    Cokkinou, Vana; Katsiyanni, Anna; Orkopoulou, Mary; Michalis, Alkis; Tolis, George; Cokkinos, Dennis V.

    1988-01-01

    To investigate hemolysis after open heart surgery in patients with and without the β-thalassemia trait, we prospectively studied 85 patients who underwent open heart surgery for various pathologic conditions. Hemoglobin electrophoresis showed that 20 of these patients had the β-thalassemia trait, whereas the other 65 were normal. To compare the degree of postoperative hemolysis in both groups, we evaluated the serum bilirubin, lactic dehydrogenase, haptoglobin, and plasma hemoglobin levels pr...

  2. An age dependent response to hydroxyurea in pediatric sickle cell anemia patients with alpha thalassemia trait.

    Science.gov (United States)

    Figueiredo, Lisa; Morrone, Kerry; Wei, Catherine; Ireland, Karen; Cohen, Hillel W; Driscoll, Catherine; Manwani, Deepa

    2017-07-01

    Hydroxyurea (HU) is a key drug therapy for individuals with sickle cell anemia (SCA), yet its clinical and hematologic responses can be variable. Various studies have reported the role of α-thalassemia as one of the most prevalent heritable traits that may modify HU response. We provide data from 62 pediatric and adolescent patients with SCA, 26 with co-inherited α-thalassemia trait. Our data suggest that altered hematologic and clinical responses to HU therapy are noted in adolescent SCA individuals with co-inherited α-thalassemia trait. Adolescent patients who co-inherited α-thalassemia trait had a greater reduction in vaso-occlusive episodes compared to those without α-thalassemia, despite a less robust fetal hemoglobin induction as well as a lower maximum HU dose. This clinical improvement was associated with a lower MCH and higher RBC count. Responses to HU in younger SCA children (ages 5-11years) with co-inherited α-thalassemia trait, compared to those without α-thalassemia trait, did not show any difference in number vaso-occlusive episodes, fetal hemoglobin induction and change in MCH and RBC count. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Thalassemias and hemoglobinopathies in Turkey.

    Science.gov (United States)

    Canatan, Duran

    2014-01-01

    Thalassemias and hemoglobinopathies are a serious health problem in Turkey. There is a 70-year history of thalassemia in Turkey. The first patient with β-thalassemia major (β-TM) was reported in 1941. The first clinical and hematological studies were published by Aksoy in 1958. The overall incidence of β-thalassemia (β-thal) was reported by Çavdar and Arcasoy to be 2.1% in 1971. Important steps such as written regulations, education and prevention campaigns, have been taken to prevent thalassemia in Turkey by the Ministry of Health (MOH), the Turkish National Hemoglobinopathy Council (TNHC) and the Thalassemia Federation of Turkey (TFT) since 2000. A national hemoglobinopathy prevention program was started in provinces with a high prevalence by the MOH in 2003. While the percentage of premarital screening test was 30.0% of all couples in 2003, it reached 86.0% in 2013. While the number of newborn with thalassemias and hemoglobinopathies was 272 in 2002, it had dropped to 25 in 2010. There has been a 90.0% reduction of affected births in the last 10 years.

  4. Beta-thalassemia

    OpenAIRE

    Origa Raffaella; Galanello Renzo

    2010-01-01

    Abstract Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor...

  5. A national registry of thalassemia in Turkey; demographic and disease characteristics of patients, achievements and challenges in prevention.

    Science.gov (United States)

    Aydınok, Yeşim; Oymak, Yeşim; Atabay, Berna; Aydoğan, Gönül; Yeşilipek, Akif; Ünal, Selma; Kılınç, Yurdanur; Oflaz, Banu; Akın, Mehmet; Vergin, Canan; Sezgin Evim, Melike; Çalışkan, Ümran; Ünal, Şule; Bay, Ali; Kazancı, Elif; İleri, Dilber Talia; Atay, Didem; Patıroğlu, Türkan; Kahraman, Selda; Söker, Murat; Akcan, Mediha; Akdeniz, Aydan; Büyükavcı, Mustafa; Alanoğlu, Güçhan; Bör, Özcan; Soyer, Nur; Özdemir Karadaş, Nihal; Uysalol, Ezgi; Türker, Meral; Akçay, Arzu; Ocak, Süheyla; Güneş, Adalet Meral; Tokgöz, Hüseyin; Uysal, Zümrüt; Tiftik, Naci; Karakaş, Zeynep

    2017-04-13

    Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate demographic and disease characteristics of patients, and assessed the efficacy of hemoglobinopathy control program (HCP) over 10 years in Turkey. A total of 2046 patients from 27 Thalassemia Centers were registered in which 1988 were eligible for analysis. This cohort mainly comprised patients with β-thalassemia major (n=1658, 83.4%) and intermedia (n=215, 10.8%). The majority of patients were accumulated into the costal areas of Turkey. The high number of patients in South Eastern Anatolia would be contributed by the highest rate of consanguinity marriage and fertility. The most common 11 mutations represented 90% of all β-thalassemia alleles in which 47% of those was IVS1-110(G->A). The probability to undergo splenectomy within the first 10 years of life was 20% and unchanged since 1980s. The iron chelators were administered as monotherapy regimen in 95% of patients and deferasirox was prescribed in 81.3% of those. Deferasirox administration was the highest (93.6%) in patients aged Turkey.

  6. Red blood cell alloimmunization in transfusion-dependent Egyptian patients with thalassemia in a limited donor exposure program.

    Science.gov (United States)

    el-Danasoury, Azza S; Eissa, Doaa G; Abdo, Reham M; Elalfy, Mohsen S

    2012-01-01

    Thalassemia is considered the most common hemoglobinopathy in Egypt and is one of its major health problems. Lifelong red blood cell (RBC) transfusion remains the main treatment for severe forms; however, RBC alloimmunization results as a complication of regular transfusions due to repeated exposure to foreign antigens. The objective was to compare the frequency of alloantibodies in a group of patients in a limited donor exposure program (LDEP) with those receiving RBCs from multiple donors in Egyptian transfusion-dependent patients with thalassemia. A total of 235 regularly transfused patients with thalassemia were studied, 36 of which were on LDEP. All patients were investigated for the presence of RBC autoantibodies and alloantibodies, followed by antibody identification for positive patients. Forty-six (19.5%) patients developed RBC alloantibodies. The most common clinically significant alloantibodies were directed against antigens in the Kell and Rh systems. Development of alloantibodies was associated with older age, higher transfusion frequency, and splenectomy. A trend toward lower alloimmunization was elicited in the LDEP group, where 8.3% (3/36) patients were alloimmunized compared to 21.6% (43/199) in the non-LDEP one (p=0.057). Examination of donor RBCs for presence of Kell and Rh(E) antigens before transfusion can help decrease RBC alloimmunization. Further larger studies are required to assess the frequency of alloantibody production in patients on LDEP. © 2011 American Association of Blood Banks.

  7. PRELIMINARY ASSESSMENT OF METAL LEVELS IN THALASSEMIA PATIENTS

    OpenAIRE

    Yüksel, Bayram; Kaya-Akyüzlü, Dilek; KAYAALTI, Zeliha

    2017-01-01

    Studies due to biological screening in toxicological research are importantfor the asssessment of human health risk considering environmental pollution.Toxic metals are one of the serious groups of environmental contaminants.Beta-thalassemia is a form of thalassemia that is caused by a deficiency of betaglobin related to any of more than 200 point mutations in functionallyimportant regions of the beta globin gene on chromosome 11. This deficiencybrings about an accumulation of unpaired α-glob...

  8. Carotid intima-media thickness and oxidative stress markers for assessment of atherosclerosis in children with β thalassemia major

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    Geetanjali Jindal

    2016-05-01

    Full Text Available The present study evaluates carotid intimamedia thickness (CIMT in children with β thalassemia major to assess atherosclerosis and its relation to the underlying proposed causative mechanisms via lipid peroxidation product malondialdehyde (MDA, oxidized lowdensity lipoproteins (LDL, total antioxidant level, and lipid profile. A cross sectional study was conducted on 62 children (31 cases and 31 controls. CIMT by high resolution ultrasound and biochemical parameters i.e., total cholesterol, triglycerides, high-density lipoproteins, LDL, Oxidized LDL, lipoprotein (a, lipid peroxidation product MDA and total antioxidant were measured in enrolled subjects and compared. In our study, CIMT was significantly increased in β thalassemia major patients’ as compared to healthy controls. Mean CIMT in cases was 0.69±0.11 mm and in controls 0.51±0.07 mm. Mean oxidized LDL (EU/mL in cases 39.3±34.4 (range 14.4 to 160 was significantly raised (P=0.02, t test as compared to controls 23.9±13.4 (range 12 to 70. In our study we found MDA levels (nmol/mL to be increased in β thalassemia patients as compared to controls. Mean MDA was 10.0±3.27 (4.41 to 17.48 in cases while in controls was 6.87±4.55 (1.5 to 17.9. Our study results show CIMT as an early marker of atherogenesis in β thalassemia major. Oxidative stress markers are also increased in β thalassemia major patients and lipoprotein (a shows a positive correlation with CIMT. The present study points towards various atherogenetic mechanisms in β thalassemia major. 本研究评价β重型地中海贫血患儿颈动脉内膜中层厚度(CIMT),以评估动脉粥样硬化,以及与潜在通过血脂过氧化反应产物丙二醛(MDA)、氧化低密度脂蛋白(LDL)、总抗氧化水平和血脂谱所提出致病机制之间的关系。 在62名儿童(31例病例和31例对照)中进行了一项横断面研究。 在入组受试者中通过高分辨率超声和生化指标(

  9. Adrenal glands in beta-thalassemia major: magnetic resonance (MR) imaging features and correlation with iron stores

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    Drakonaki, Eleni; Papakonstantinou, Olympia; Maris, Thomas; Gourtsoyiannis, Nicholas [University Hospital of Heraklion, Department of Radiology, Heraklion (Greece); Vasiliadou, Artemis [Aghios Georgios Hospital of Chania, Thalassemia Unit, Chania (Greece); Papadakis, Alex [Venizelion Hospital of Heraklion, Thalassemia Unit, Heraklion (Greece)

    2005-12-01

    This study aimed at describing the magnetic resonance (MR) imaging features of the adrenal glands in beta-thalassemic patients and at investigating the relation between adrenal and hepatic siderosis. Adrenal signal intensity (SI) was retrospectively assessed on abdominal MR studies of 35 patients with beta-thalassemia major undergoing quantification of hepatic siderosis and 12 healthy controls, using T1- (120/4/90), intermediate - (120/4/20), and T2*- (120/15/20) weighted GRE sequences. Adrenal SI was graded as grade 0 (normal SI on all sequences), grade 1 (hypointensity on T2* alone), or grade 2 (hypointensity on at least T2*). Adrenal size was measured in the thalassemic patients and compared with normative data. Liver-to-muscle (L/M) SI ratios, expressing hepatic siderosis, were estimated on each sequence. Serum ferritin levels were recorded. Adrenal hypointensity (grades 1 and 2) was noted in 24/35 (68.6%) patients. L/M ratios correlated significantly with adrenal SI in all sequences. Patients with grade 1 and grade 2 adrenal SI had significantly decreased L/M ratios compared with grade 0. Serum ferritin correlated significantly with L/M values but not with adrenal SI. Adrenal size was within normal limits. Diffuse hypointensity in normal-sized adrenals is a common MR finding in beta-thalassemic patients and correlates with the degree of hepatic siderosis. (orig.)

  10. Premature epiphyseal fusion and extramedullary hematopoiesis in thalassemia

    Energy Technology Data Exchange (ETDEWEB)

    Colavita, N.; Orazi, C.; Danza, S.M.; Falappa, P.G.; Fabbri, R.

    1987-10-01

    The main skeletal abnormalities in ..beta..-thalassemia are widening of medullary spaces, rarefaction of bone trabeculae, thinning of cortical bone, and perpendicular periosteal spiculation. Premature epiphyseal fusion (PEF) and extramedullary hematopoiesis (EH) are found, though more rarely. The incidence of PEF and EH in 64 patients affected by ..beta..-thalassemia is reported. The different incidence of such complications in thalassemia major and intermedia is reported, and a possible correlation with transfusion regimen is also considered.

  11. Evidence of Increased Hemolysis after Open Heart Surgery in Patients Heterozygous for Beta-Thalassemia

    Science.gov (United States)

    Cokkinou, Vana; Katsiyanni, Anna; Orkopoulou, Mary; Michalis, Alkis; Tolis, George; Cokkinos, Dennis V.

    1988-01-01

    To investigate hemolysis after open heart surgery in patients with and without the β-thalassemia trait, we prospectively studied 85 patients who underwent open heart surgery for various pathologic conditions. Hemoglobin electrophoresis showed that 20 of these patients had the β-thalassemia trait, whereas the other 65 were normal. To compare the degree of postoperative hemolysis in both groups, we evaluated the serum bilirubin, lactic dehydrogenase, haptoglobin, and plasma hemoglobin levels preoperatively and on the first and second postoperative days. Patients with the β-thalassemia trait had a significantly greater degree of hemolysis than did those without this trait. Hemolysis was more pronounced on the first postoperative day and was obviously caused by the passage of blood through the heart-lung machine. The degree of hemolysis was not affected by the patient's age or sex, or by the type and duration of the operation. (Texas Heart Institute Journal 1988;15:35-38) PMID:15227276

  12. Regulatory B cells (CD19(+)CD38(hi)CD24(hi)) in alloimmunized and non-alloimmunized children with β-thalassemia major.

    Science.gov (United States)

    Zahran, Asmaa M; Elsayh, Khalid I; Saad, Khaled; Embaby, Mostafa; Ali, Ahmed M

    2016-03-01

    β-Thalassemia major (BTM) is considered the most common hemoglobinopathy in Egypt and is one of the major health problems in our locality. We investigated the frequency of B-regulatory cells (CD19(+)CD38(hi)CD24(hi)); (Bregs) among polytransfused alloimmunized and non-alloimmunized children with BTM. The study included 110 polytransfused pediatric patients with β-thalassemia major. Clinical and transfusion records of all studied patients were reviewed. Indirect antiglobulin test was performed to detect the presence of alloantibodies. We used flow cytometry for detection of CD19(+)CD38(hi)CD24(hi) regulatory B cells. Alloimmunization was detected in 35.5% of thalassemic patients (39/110). The analysis of our data showed a significantly higher frequency of Bregs (CD19(+)CD38(hi)CD24(hi)) in the peripheral blood of both alloimmunized and non-alloimmunized patients as compared to healthy controls. Our data showed that the frequencies of CD19(+)CD24(hi)CD38(hi) Bregs cells were significantly increased in children with BTM. Our data suggested that Bregs cells could play a role in the clinical course of BTM. The relationship of Bregs to immune disorders in BTM children remains to be determined. Further longitudinal study with a larger sample size is warranted to explore the mechanisms of Breg cells in the disease process in BTM patients. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Evaluation of cognition in children with beta-thalassemia major and healthy counterparts in terms of abstract thinking and visual organization

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    Samaneh Homayouni-Meymandi

    2014-04-01

    Conclusion: The results show the potential impact of the disease on children›s cognitive levels and suggest that children with beta-thalassemia major need more attention in the field of education to promote their understanding.

  14. CARDIAC FUNCTION AND IRON CHELATION IN THALASSEMIA MAJOR AND INTERMEDIA: A REVIEW OF THE UNDERLYING PATHOPHYSIOLOGY AND APPROACH TO CHELATION MANAGEMENT

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    Athanasios Aessopos

    2009-07-01

    Full Text Available Heart disease is the leading cause of mortality and one of the main causes of morbidity in beta-thalassemia. Patients with homozygous thalassemia may have either a severe phenotype which is usually transfusion dependent or a milder form that is thalassemia intermedia.  The two main factors that determine cardiac disease in homozygous β thalassemia are the high output state that results from chronic tissue hypoxia, hypoxia-induced compensatory reactions and iron overload.  The high output state playing a major role in thalassaemia intermedia and the iron load being more significant in the major form. Arrhythmias, vascular involvement that leads to an increased pulmonary vascular resistance and an increased systemic vascular stiffness and valvular abnormalities also contribute to the cardiac dysfunction in varying degrees according to the severity of the phenotype.  Endocrine abnormalities, infections, renal function and medications can also play a role in the overall cardiac function.  For thalassaemia major, regular and adequate blood transfusions and iron chelation therapy are the mainstays of management. The approach to thalassaemia intermedia, today, is aimed at monitoring for complications and initiating, timely, regular transfusions and/or iron chelation therapy.  Once the patients are on transfusions, then they should be managed in the same way as the thalassaemia major patients.  If cardiac manifestations of dysfunction are present in either form of thalassaemia, high pre transfusion Hb levels need to be maintained in order to reduce cardiac output and appropriate intensive chelation therapy needs to be instituted.  In general recommendations on chelation, today, are usually made according to the Cardiac Magnetic Resonance findings, if available.  With the advances in the latter technology and the ability to tailor chelation therapy according to the MRI findings as well as the availability of three iron chelators, together with

  15. Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients

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    Natália O. Mota

    2017-10-01

    Full Text Available Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In addition to the -α3.7 deletion identified in the patients with Hb H disease, four different α0 deletions removing 15 to 225 kb DNA segments were found: two of them remove both the α genes, one affects only the regulatory element (HS-40 region, and another one extends over the entire α cluster and the HS-40 region. These results illustrate the diversity of α-thalassemia deletions in the Brazilian population and highlight the importance of molecular investigation in cases that present with microcytosis and hypochromia without iron deficiency and normal or reduced Hb A2 levels..

  16. Failure to replicate the internal structure of Greek-specific thalassemia quality of life instrument in adult thalassemia patients in Sabah

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    Keowmani T

    2016-02-01

    Full Text Available Thamron Keowmani,1 Lily Wong Lee Lee21Clinical Research Centre, 2Hematology Unit, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, MalaysiaPurpose: To study the validity and reliability of the Malay version of the Specific Thalassemia Quality of Life Instrument (STQOLI in Sabah’s adult thalassemia patients.Patients and methods: This cross-sectional study was done at Thalassemia Treatment Centre, Queen Elizabeth Hospital in Sabah, Malaysia. Eighty-two adult thalassemia patients who fulfilled the inclusion and exclusion criteria were conveniently selected for participation in the study. The English version of STQOLI was translated into Malay by using forward and back translations. The content of the questionnaire was validated by the chief hematologist of the hospital. The construct validity of the 40-item questionnaire was assessed by principal component analysis with varimax rotation and the scale reliability was assessed by Cronbach’s alpha.Results: The study failed to replicate the internal structure of the Greek STQOLI. Instead, 12 factors have been identified from the exploratory factor analysis, which accounted for 72.2% of the variance. However, only eight factors were interpretable. The factors were iron chelation pump impact, transfusion impact, time spent on treatment and its impact on work and social life, sex life, side effects of treatment, cardiovascular problems, psychology, and iron chelation pill impact. The overall scale reliability was 0.913.Conclusion: This study was unable to replicate the internal structure of the Greek STQOLI in Sabah’s adult thalassemia patients. Instead, a new structure has emerged that can be used as a guide to develop a questionnaire specific for adult thalassemia patients in Sabah. Future research should focus on the eight factors identified from this study.Keywords: STQOLI, validity, reliability, Malay, transfusion

  17. Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome.

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    Mariane de Montalembert

    Full Text Available The risk and clinical significance of cardiac iron overload due to chronic transfusion varies with the underlying disease. Cardiac iron overload shortens the life expectancy of patients with thalassemia, whereas its effect is unclear in those with myelodysplastic syndromes (MDS. In patients with sickle cell anemia (SCA, iron does not seem to deposit quickly in the heart. Our primary objective was to assess through a multicentric study the prevalence of cardiac iron overload, defined as a cardiovascular magnetic resonance T2*8 ECs in the past year, and age older than 6 years. We included from 9 centers 20 patients with thalassemia, 41 with SCA, and 25 with MDS in 2012-2014. Erythrocytapharesis did not consistently prevent iron overload in patients with SCA. Cardiac iron overload was found in 3 (15% patients with thalassemia, none with SCA, and 4 (16% with MDS. The liver iron content (LIC ranged from 10.4 to 15.2 mg/g dry weight, with no significant differences across groups (P = 0.29. Abnormal T2* was not significantly associated with any of the measures of transfusion or chelation. Ferritin levels showed a strong association with LIC. Non-transferrin-bound iron was high in the thalassemia and MDS groups but low in the SCA group (P<0.001. Hepcidin was low in thalassemia, normal in SCA, and markedly elevated in MDS (P<0.001. Two mechanisms may explain that iron deposition largely spares the heart in SCA: the high level of erythropoiesis recycles the iron and the chronic inflammation retains iron within the macrophages. Thalassemia, in contrast, is characterized by inefficient erythropoiesis, unable to handle free iron. Iron accumulation varies widely in MDS syndromes due to the competing influences of abnormal erythropoiesis, excess iron supply, and inflammation.

  18. CLINICAL AND BIOCHEMICAL DATA OF ADULT THALASSEMIA MAJOR PATIENTS (TM WITH MULTIPLE ENDOCRINE COMPLICATIONS (MEC VERSUS TM PATIENTS WITH NORMAL ENDOCRINE FUNCTIONS: A RETROSPECTIVE LONG-TERM STUDY (40 YEARS IN A TERTIARY CARE CENTER IN ITALY

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    Vincenzo De Sanctis

    2016-04-01

    Full Text Available Abstract. Introduction: It is well known that the older generation of adult TM patients has a higher incidence of morbidities and co-morbidities. At present, little information is available on adult TM patients with multiple endocrine complications (MEC. The main objectives of this longitudinal retrospective survey were: 1 to establish the incidence and progression of MEC (3 or more in TM patients; 2 to compare the clinical, laboratory and imaging data to a sex and age-matched group of TM patients without MEC; 3 to assess the influence of iron overload represented by serum ferritin (peak and mean annual value at the last endocrine observation. Patients and Methods: The study was started in January 1974 and was completed by the same physician at the end of December 2015. The registry database of the regularly followed TM patients from diagnosis included 145 adults (> 18 years. All TM patients were of Italian ethnic origin. Eleven out of 145 patients (7.5 % developed MEC. Twenty-four other patients (12 females and 12 males had a normal endocrine function (16.5 % and served as controls. Results: In our survey, four important, relevant aspects emerged in the MEC group. These included the late age at the start of chelation therapy with desferrioxamine mesylate (DFO; the higher serum ferritin peak (8521.8 ± 5958.9 vs 3575.2± 1801.4 ng/ml ; the higher percentage of splenectomized (81.8 % vs. 28.5% patients and poor compliance registered mainly during the peripubertal and pubertal age (72.7 % vs.16.6 % in TM patients developing MEC versus those without endocrine complications. Furthermore, a negative correlation was observed in all TM patients between LIC and final height (r: -0.424; p= 0.031. Conclusions: Our study supports the view that simultaneous involvement of more than one endocrine gland is not uncommon (7.5 %. It mainly occurred in TM patients who started chelation therapy with DFO late in life and who had irregular/poor compliance to

  19. The Effect of Family-Centered Empowerment Program on Self-Efficacy of Adolescents with Thalassemia Major: A Randomized Controlled Clinical Trial

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    Leili Borimnejad

    2018-01-01

    Full Text Available Background: Chronic nature of thalassemia causes changes in different aspects of life in patients, including their self-efficacy. The aim of this study was to determine the effect of family-centered empowerment program on the self-efficacy of adolescents with Thalassemia major. Methods: A quasi-experimental study was performed on adolescents with thalassemia major in 2013 in Bandar Abbas, Iran. The participants were divided into intervention and control groups, respectively. Research instruments included demographic data questionnaire, need assessment self-made questionnaire, general self-efficacy scale, and sickle cell self-efficacy scale. After collecting the data from the pre-intervention step, family-centered empowerment program was implemented for the intervention group and secondary test was conducted six weeks after the intervention and the results were analyzed by statistical SPSS-21 software, using independent t-test, paired t-test, Chi-square and Fisher’s exact test, and descriptive statistics. A significance level of P<0.05 was considered as significant. Results: The mean and standard deviation of the adolescents’ age were 16±1.9 in the intervention group and 15.2±2 in the control group. Independent t-test showed a significant difference between the two groups after the intervention for both self-efficacies (P<0.01 and P=0.02. In the control group, the results of general self-efficacy scores after six weeks’ time were reduced compared to the previous one while disease-related self-efficacy scores in the same group after six weeks’ time increased and paired t-test indicated a significant difference in the mean scores for both self-efficacies in both groups. Conclusion: Implementation of family-centered empowerment program for patients with thalassemia major is practically feasible and it can increase self-efficacy in these patients. It is suggested that the program should be used in comprehensive care protocols of children

  20. β-Thalassemia Intermedia: A Bird’s-Eye View

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    Anthony Haddad

    2014-03-01

    Full Text Available Beta-thalassemia is due to a defect in the synthesis of the beta-globin chains, leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. The spectrum of thalassemias is wide, with one end comprising thalassemia minor, which consists of a mild hypochromic microcytic anemia with no obvious clinical manifestations, while on the other end is thalassemia major, characterized by patients who present in their first years of life with profound anemia and regular transfusion requirements for survival. Along the spectrum lies thalassemia intermedia, a term developed to describe patients with manifestations that are neither mild enough nor severe enough to be classified in the spectrum’s extremes. Over the past decade, our understanding of β-thalassemia intermedia has increased tremendously with regards to molecular information as well as pathophysiology. It is now clear that β-thalassemia intermedia has a clinical presentation as well as complications associated with the disease that are different from those of β-thalassemia major. This review is designed to tackle issues related to β-thalassemia intermedia from the basic definition of the disease to paramedical issues, namely the quality of life in these patients. Genetics and pathophysiology are revisited, as well as the complications specific to this disease. These complications include effects on several organ systems, including the cardiovascular, hepatic, endocrine, renal, brain, and skeletal systems. Extramedullary hematopoiesis is also discussed in this article. Risk factors are highlighted and cutoffs are identified to minimize morbidities in β-thalassemia intermedia. Several treatment modalities are considered by shining a light on the pros and cons of each modality, as well as the role of special pharmacological agents in the progress of the disease and its morbidities. Finally, health-related quality of life is discussed in these patients with a direct comparison

  1. Vitamin D Receptor (VDR) Gene Polymorphisms (FokI, BsmI) and their Relation to Vitamin D Status in Pediatrics βeta Thalassemia Major.

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    Elhoseiny, Shereen Mohamed; Morgan, Dalia Saber; Rabie, Asmaa Mohamed; Bishay, Samer Tharwat

    2016-06-01

    Vitamin D is critical for calcium, phosphate homeostasis and for mineralization of the skeleton, especially during periods of rapid growth. Vitamin D Deficiency leads to rickets (in children) and osteomalacia (in adults). Expression and activation of the vitamin D receptor (VDR) are necessary for the effects of vitamin D, in which several single nucleotide polymorphisms have been identified especially (FokI, BsmI). In this study serum 25 (OH) vitamin D3 levels were estimated by Enzyme Linked Immunosorbent Assay [ELISA], VDR (FokI, BsmI) gene polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism assay [PCR-RFLP].Serum levels of calcium, phosphorus, alkaline phosphatase and ferritin were determined in 50 Pediatrics beta thalassemia major patients and 60 controls. Patients had significantly lower serum calcium (p 30 ng/ml). Patients harboring mutant (Ff,ff) and wild (BB) genotypes were associated with lower serum calcium (p = 0.08, 0.02) respectively, lower vitamin D3 levels (p  0.05). In conclusion, these results suggest that the VDR (FokI, BsmI) gene polymorphisms influence vitamin D status, (Ff,ff), BB genotypes had lower vitamin D levels, so they might influence risk of development of bone diseases in beta thalassemia major.

  2. On improvement in ejection fraction with iron chelation in thalassemia major and the risk of future heart failure

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    Carpenter JP

    2011-09-01

    Full Text Available Abstract Background Trials of iron chelator regimens have increased the treatment options for cardiac siderosis in beta-thalassemia major (TM patients. Treatment effects with improved left ventricular (LV ejection fraction (EF have been observed in patients without overt heart failure, but it is unclear whether these changes are clinically meaningful. Methods This retrospective study of a UK database of TM patients modelled the change in EF between serial scans measured by cardiovascular magnetic resonance (CMR to the relative risk (RR of future development of heart failure over 1 year. Patients were divided into 2 strata by baseline LVEF of 56-62% (below normal for TM and 63-70% (lower half of the normal range for TM. Results A total of 315 patients with 754 CMR scans were analyzed. A 1% absolute increase in EF from baseline was associated with a statistically significant reduction in the risk of future development of heart failure for both the lower EF stratum (EF 56-62%, RR 0.818, p Conclusion These data show that during treatment with iron chelators for cardiac siderosis, small increases in LVEF in TM patients are associated with a significantly reduced risk of the development of heart failure. Thus the iron chelator induced improvements in LVEF of 2.6% to 3.1% that have been observed in randomized controlled trials, are associated with risk reductions of 25.5% to 46.4% for the development of heart failure over 12 months, which is clinically meaningful. In cardiac iron overload, heart mitochondrial dysfunction and its relief by iron chelation may underlie the changes in LV function.

  3. Oral exfoliative cytology as a screening tool for iron overload in β-thalassemia patients.

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    Rathore, Ajit Singh; Keshri, Neha; Shetty, Devi Charan; Juneja, Saurabh

    2016-01-01

    Increased iron overload is frequent problem in thalassemia patients, and this is monitored by serum ferritin levels or chemical assessment of the iron levels in liver tissue. However, repeated monitoring of serum ferritin levels to assess the iron overload is an invasive procedure associated with practical problems. To use Perl's Prussian blue reaction to evaluate the iron overload in beta-thalassemia patients by staining the oral cytosmears. The study comprised 35 patients diagnosed with beta-thalassemia. Cytosmears were prepared from exfoliated oral epithelial cells, fixed in 70% ethanol and stained with Perl's Prussian blue stain for detection of blue colored granules in the cytoplasm. 29/35 (82.9%) cases showed a positive reaction for Perl's Prussian blue reaction while 6/35 (17%) cases did not show the presence of blue colored granules in the oral cytosmears. The presence of iron detected by Perl's Prussian blue reaction correlated with serum ferritin level (P < 0.05). Perl's Prussian blue reaction can be used to evaluate the iron overload in beta-thalassemia patients by staining the oral cytosmears. It is a simple and noninvasive method for assessment of iron overload in such patients.

  4. Bone marrow changes in beta-thalassemia major: quantitative MR imaging findings and correlation with iron stores

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    Drakonaki, Eleni E.; Karantanas, Apostolos H. [University Hospital of Heraklion, Radiology Department, Heraklion, Crete (Greece); Maris, Thomas G. [University of Crete, Department of Medical Physics, Heraklion, Crete (Greece); Papadakis, Alex [Venizelion General Hospital, Heraklion, Crete (Greece)

    2007-08-15

    The purpose of this study is to describe the MR imaging features of bone marrow in beta-thalassemia major and investigate their relation to ferritin, liver and spleen siderosis. Spinal bone marrow was prospectively assessed on abdominal MR studies of 40 transfused beta-thalassemic patients and 15 controls using T1-w, Pd, T2*-w Gradient Echo (GRE) and T1-w turbo Spin Echo (TSE) sequences. Signal intensity (SI) ratios of liver, spleen and bone marrow to paraspinous muscles (L/M, S/M, B/M respectively) and the respective T2 relaxation rates (1/T2) were calculated. Serum ferritin levels were recorded. Bone marrow hypointensity in at least T2*-w GRE sequence was noted in 29/40 (72.5%) patients. Eleven/40 patients exhibited normal B/M on all MR sequences. Five/40 patients had normal B/M and low L/M. B/M correlated with L/M in T1-w TSE sequence only (r = 0.471, p = 0.05). B/M correlated with S/M and mean ferritin values in all sequences (r > 0.489, p < 0.01 and r > - 0.496, p < 0.03 respectively). Marrow 1/T2 did not correlate with ferritin values or liver and spleen 1/T2. B/M in transfused beta-thalassemic patients is related to splenic siderosis and ferritin levels. Although marrow is usually hypointense, it may occasionally display normal SI coexisting with liver hypointensity, a pattern typical of primary hemochromatosis. (orig.)

  5. Role of co-inherited Gilbert syndrome on hyperbilirubinemia in Indian beta thalassemia patients.

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    Dabke, Pooja S; Colah, Roshan B; Ghosh, Kanjaksha K; Nadkarni, Anita H

    2014-10-01

    Gilbert syndrome is characterized by mild unconjugated hyperbilirubinemia. The high levels of bilirubin could be related to the co-inheritance of Gilbert syndrome determined either by mutations of the coding region or by variation in the (TA)n motifs of the promoter region of the bilirubin UGT1A1 gene. The co-inheritance of Gilbert syndrome has been reported to elevate bilirubin levels in beta thalassemia and sickle cell disease patients. Aim In this study, we have tried to investigate whether the variability in serum bilirubin levels found in transfusion-dependent beta thalassemia, beta thalassemia intermedia, and heterozygous beta thalassemia individuals could be related to the coexistence of Gilbert syndrome. The promoter region (TA)n motifs of the bilirubin UGT1A1 gene were analyzed in 104 beta thalassemia individuals. The control group consisted of 50 healthy individuals. The analysis of the UGT1A1 promoter showed three (TA) motifs: (TA)5, (TA)6, and (TA)7. The frequency of genotype (TA)7/(TA)7 did not differ significantly between the groups studied. A significant difference was observed in mean serum bilirubin levels between individuals showing (TA)7/(TA)7 and (TA)6/(TA)6 genotypes and also between (TA)7/(TA)7 and (TA)6/(TA)7 genotypes among all groups studied. According to the beta genotype, no differences were observed between mean serum bilirubin levels in the three groups (β(+)/β(+), β(0)/β(+), and β(0)/β(0)). These results indicate that the (TA)7/(TA)7 configuration is one of the factors responsible for hyperbilirubinemia and, therefore, seems to interfere with the clinical expression of homozygous beta thalassemia. This emphasizes the role played by co-inherited modifying genes on clinical heterogeneity of monogenic disorders.

  6. The Corellation Between Serum Ferritin and Cardiac Troponin I in Major Beta Thalassemia Children

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    Muhammad Ali Shodikin

    2016-04-01

    Full Text Available Major beta thalassemia (MBT is a hereditary disease which synthesies defects in beta chains of haemoglobin, it is causes red blood cell destruction and the symptoms of anemia. Red blood cell destruction, frequent blood transfusion and low adherence to routine use of iron chelator lead to iron accumulation in the heart, liver and endocrine organs. Accumulation of iron in the myocard can lead acute myocardial infarction. One of cardiac markers that had been used for the diagnosis of myocardial infarction was cardiac troponin I (cTnI. The aim of this research is find the correlation between serum ferritin levels and cTnI in MBT children. A descriptive analytic research was conducted using a cross sectional design. The subjects were divided into 2 groups, the MBT group and the control group. In both groups, the serum ferritin and cTnI levels ere evaluated. Data were analyzed using t-test and Pearson correlation test. Eleven children in the MBT group and 11 children in the control group were involved in this study. In the MBT group, the mean of serum ferritin and cTnI levels were 4292.5 µg/L and 0.20 ng/mL respectively. The mean of serum ferritin levels in the MBT group were higher than in the control and statistically significant (p= 0.0004. The mean of serum ferritin levels in the MBT group were higher than in the control and statistically significant (p= 0.0004. The mean of serum cTnI in the MBT group were higher than in the control, but statistically not significant (p= 0.82. In the MBT group, there was a weak corellation between serum ferritin and cTnI levels (r= 0.34.

  7. Frequency of Red Cell Alloimmunization and Autoimmunization in Thalassemia Patients: A Report from Eastern India

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    Suvro Sankha Datta

    2015-01-01

    Full Text Available Introduction. Red blood cell (RBC alloimmunization and autoimmunization remain a major problem in transfusion dependent thalassemic patients. There is a paucity of data on the incidence of RBC alloimmunization and autoimmunization in thalassemic patients from eastern part of India, as pretransfusion antibody screening is not routinely performed. Aims. To assess the incidence of RBC alloimmunization and autoimmunization in transfusion dependent thalassemic patients in eastern India. Materials and Methods. Total 500 thalassemia cases were evaluated. The antibody screening and identification were performed with commercially available panel cells (Diapanel, Bio-rad, Switzerland by column agglutination method. To detect autoantibodies, autocontrol and direct antiglobulin tests were carried out using polyspecific coombs (IgG + C3d gel cards in all patients. Results. A total of 28 patients developed RBC alloimmunization (5.6% and 5 patients had autoantibodies (1%. Alloantibody against c had the highest incidence (28.57% followed by E (21.42%. Five out of 28 (17.85% patients had developed antibodies against both c and E. Conclusion. Data from this study demonstrate that the RBC alloantibody and autoantibody development rates are significant in our region. Thus, pretransfusion antibody screening needs to be initiated in eastern India in order to ensure safe transfusion practice.

  8. Frequency of Red Cell Alloimmunization and Autoimmunization in Thalassemia Patients: A Report from Eastern India.

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    Datta, Suvro Sankha; Mukherjee, Somnath; Talukder, Biplabendu; Bhattacharya, Prasun; Mukherjee, Krishnendu

    2015-01-01

    Introduction. Red blood cell (RBC) alloimmunization and autoimmunization remain a major problem in transfusion dependent thalassemic patients. There is a paucity of data on the incidence of RBC alloimmunization and autoimmunization in thalassemic patients from eastern part of India, as pretransfusion antibody screening is not routinely performed. Aims. To assess the incidence of RBC alloimmunization and autoimmunization in transfusion dependent thalassemic patients in eastern India. Materials and Methods. Total 500 thalassemia cases were evaluated. The antibody screening and identification were performed with commercially available panel cells (Diapanel, Bio-rad, Switzerland) by column agglutination method. To detect autoantibodies, autocontrol and direct antiglobulin tests were carried out using polyspecific coombs (IgG + C3d) gel cards in all patients. Results. A total of 28 patients developed RBC alloimmunization (5.6%) and 5 patients had autoantibodies (1%). Alloantibody against c had the highest incidence (28.57%) followed by E (21.42%). Five out of 28 (17.85%) patients had developed antibodies against both c and E. Conclusion. Data from this study demonstrate that the RBC alloantibody and autoantibody development rates are significant in our region. Thus, pretransfusion antibody screening needs to be initiated in eastern India in order to ensure safe transfusion practice.

  9. Assessment of Serum Zinc Levels of Patients with Thalassemia Compared to Their Siblings

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    Mohamed El Missiry

    2014-01-01

    Full Text Available Zinc (Zn is essential for appropriate growth and proper immune function, both of which may be impaired in thalassemia children. Factors that can affect serum Zn levels in these patients may be related to their disease or treatment or nutritional causes. We assessed the serum Zn levels of children with thalassemia paired with a sibling. Zn levels were obtained from 30 children in Islamabad, Pakistan. Serum Zn levels and anthropometric data measures were compared among siblings. Thalassemia patients’ median age was 4.5 years (range 1–10.6 years and siblings was 7.8 years (range 1.1–17 years. The median serum Zn levels for both groups were within normal range: 100 μg/dL (10 μg/dL–297 μg/dL for patients and 92 μg/dL (13 μg/dL–212 μg/dL for siblings. There was no significant difference between the two groups. Patients’ serum Zn values correlated positively with their corresponding siblings (r=0.635, P<0.001. There were no correlations between patients’ Zn levels, height for age Z-scores, serum ferritin levels, chelation, or blood counts (including both total leukocyte and absolute lymphocyte counts. Patients’ serum Zn values correlated with their siblings’ values. In this study, patients with thalassemia do not seem to have disease-related Zn deficiency.

  10. Zinc Status Affects Glucose Homeostasis and Insulin Secretion in Patients with Thalassemia

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    Ellen B. Fung

    2015-06-01

    Full Text Available Up to 20% of adult patients with Thalassemia major (Thal live with diabetes, while 30% may be zinc deficient. The objective of this study was to explore the relationship between zinc status, impaired glucose tolerance and insulin sensitivity in Thal patients. Charts from thirty subjects (16 male, 27.8 ± 9.1 years with Thal were reviewed. Patients with low serum zinc had significantly lower fasting insulin, insulinogenic and oral disposition indexes (all p < 0.05 and elevated glucose response curve, following a standard 75 g oral load of glucose compared to those with normal serum zinc after controlling for baseline (group × time interaction p = 0.048. Longitudinal data in five patients with a decline in serum zinc over a two year follow up period (−19.0 ± 9.6 μg/dL, showed consistent increases in fasting glucose (3.6 ± 3.2 mg/dL and insulin to glucose ratios at 120 min post glucose dose (p = 0.05. Taken together, these data suggest that the frequently present zinc deficiency in Thal patients is associated with decreased insulin secretion and reduced glucose disposal. Future zinc trials will require modeling of oral glucose tolerance test data and not simply measurement of static indices in order to understand the complexities of pancreatic function in the Thal patient.

  11. Effect of Combined versus Monotherapy with Deferoxamine and Deferiprone in Iron Overloaded Thalassemia Patients: a Randomized Clinical Trial

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    Sasan Hejazi

    2016-06-01

    Full Text Available Background: Patients with transfusional iron overload have depended on iron chelation therapy and improving chelation regimens have been of the highest priority. The aim of this study was to compare effect of combined versus monotherapy with Deferoxamine (DFO and Deferiprone (DFP in iron overloaded beta thalassemia (BT major patients Materials and Methods We studied 36 BT major patients (mean age 7.6±4.6; range 3–16 years attending the Ormieh Motahari hospital for regular transfusional support. Patients were randomly allocated to receive one of the following two treatments: DFO in combination with DFP (n=12, DFO alone (n=12 and DFP alone (n=12. Serum ferritin level, liver enzymes, blood urea nitrogen, and creatinine and side effects were monitored over a 12 months period. Results: After one year, serum ferritin decreased more significantly in patients on DFO+DFP therapy compared to patients who only received DFO or DFP alone (P

  12. Result of video-education on "genetic transmission in thalassemia" to thalassemic patients and their parents.

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    Paholpak, Siriorn; Jetsrisuparb, Arunee; Wiangnon, Surapon; Sangsahachat, Darunee; Padtawaro, La-or

    2006-11-01

    To determine the degree of knowledge improvement and retention after a single viewing of a video CD presentation on the genetic transmission of thalassemia among patients with thalassemia and their parents. The present research was approved by Khon Kaen University Ethics Review Board A video CD on the genetic transmission of thalassemia was created as an educational tool for improving knowledge and retention. The validity and the informative usefulness of the video CD was evaluated, adapted and approved by a thalassemia expert. Between November 1, 2002 and September 30, 2005, 61 subjects (thalassemic patients and their parents, both groups were in reproductively active ages) at the Pediatric Outpatient Unit, Srinagarind Hospital, Khon Kaen, consented to participate. Their ages ranged between 17 and 50 years (mean +/-SD = 36.5 +/- 9.4; median = 38.0) and 44.3% completed elementary while 26.2% completed secondary school. Their occupations varied. Mothers, fathers, and thalassemic patients comprised 68.9%, 21.3%, and 9.8% of participants, respectively. In a quiet room in the Unit, each subject watched a single viewing of the video. A validated questionnaire (Cronbach's alpha coefficient = 0.79) with 40 true/false items was used to evaluate baseline knowledge on the genetic transmission of thalassemia. Knowledge was retested four times: immediately after the viewing, then at the 4th, 12th, and 24th week. The scores for each test were skewed toward high scores; therefore, non-parametric tests were used for the statistical evaluation. The running time for the video CD was 20 minutes. The baseline knowledge on genetic transmission was high. Immediately after a single viewing of the video, the knowledge level increased significantly (p = 0.000, 95% CI = 4.0-7.0) and was maintained up to the 12th week, after which (at the 24'h week) there was a significant drop (p = 0.020, 95% CI = -2.0 to 0) compared to the immediate post-test. The authors' video CD presentation

  13. Relationship between myocardial T2* values and cardiac volumetric and functional parameters in β-thalassemia patients evaluated by cardiac magnetic resonance in association with serum ferritin levels

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    Liguori, Carlo, E-mail: c.liguori@unicampus.it [Department of Diagnostic Imaging, Campus Bio Medico University, via Alvaro del Portillo 200, 00128 Rome (Italy); Pitocco, Francesca, E-mail: f.pitocco@unicampus.it [Department of Diagnostic Imaging, Campus Bio Medico University, via Alvaro del Portillo 200, 00128 Rome (Italy); Di Giampietro, Ilenia, E-mail: i.digiampietro@unicampus.it [Department of Diagnostic Imaging, Campus Bio Medico University, via Alvaro del Portillo 200, 00128 Rome (Italy); Vivo, Aldo Eros de, E-mail: devivoeros@gmail.com [Department of Diagnostic Imaging, Campus Bio Medico University, via Alvaro del Portillo 200, 00128 Rome (Italy); Schena, Emiliano, E-mail: e.schena@unicampus.it [Unit of Measurements and Biomedical Instrumentation, Campus Bio Medico University, via Alvaro del Portillo 200, 00128 Rome (Italy); Cianciulli, Paolo, E-mail: CIANCIULLI.PAOLO@aslrmc.it [Thalassemia Unit, Ospedale Sant Eugenio, Piazzale dell’Umanesimo 10, 00143 Rome (Italy); Zobel, Bruno Beomonte, E-mail: b.zobel@unicampus.it [Department of Diagnostic Imaging, Campus Bio Medico University, via Alvaro del Portillo 200, 00128 Rome (Italy)

    2013-09-15

    Purpose: Myocardial T2* cardiovascular magnetic resonance provides a rapid and reproducible assessment of cardiac iron load in thalassemia patients. Although cardiac involvement is mainly characterized by left ventricular dysfunction caused by iron overload, little is known about right ventricular function. The aim of this study was to assess the relationship between T2* value in myocardium and left–right ventricular volumetric and functional parameters and to evaluate the existing associations between left–right ventricles volumetric and functional parameter, myocardial T2* values and blood ferritin levels. Materials and methods: A retrospective analysis of 208 patients with β-thalassemia major and thalassemia intermedia was performed (109 males and 99 females; mean age 37.7 ± 13 years; 143 thalassemia major, 65 thalassemia intermedia). Myocardial iron load was assessed by T2* measurements, and volumetric functions were analyzed using the steady state free precession sequence. Results: A significant correlation was observed between EFLV and T2* (p = 0.0001), EFRV and T2* (p = 0.0279). An inverse correlation was present between DVLV and T2* (p = 0.0468), SVLV and T2* (p = 0.0003), SVRV and T2* (p = 0.0001). There was no significant correlation between cardiac T2* and LV–RV mass indices. A significant correlation was observed between T2* and serum ferritin levels (p < 0.001) and between EFLV and serum ferritin (p < 0.05). Conclusion: Myocardial iron load assessed by T2* cardiac magnetic resonance is associated with deterioration in left–right ventricular function; this is more evident when T2* values fall below 14 ms. CMR appears to be a promising approach for cardiac risk evaluation in TM patients.

  14. Posterior transverse interarch discrepancy on HbE β thalassemia patients

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    Yuniar Zen

    2011-03-01

    Full Text Available Background: One of the symptoms that often arises on thalassemia patients is disharmony dentofacial, class II skeletal malocclusion, as a result of the malrelation of maxilla and mandible. This malrelation can be affected by either maxillary bone position, dentoalveolar maxillary position, mandibular bone position, dentoalveolar mandibular position, or combinations of those components. Purpose: The study was aimed to examine whether there is posterior transverse interarch discrepancy on the HbE β thalassemia patients or not. Methods: This study is an observational research with cross-sectional design. The sample consisted of 33 HbE β thalassemia patients and 33 non-thalassemia patients as a control group aged 12–14 years. Lateral cephalogram was carried out and dental casts of maxillary and mandibular dental arches were also taken in all of those patients. Results: There was no difference between the maxillary intermolar width of the HbE β thalassemia patients and that of the normal ones, but the mandibular intermolar width of the HbE β thalassemia patients was significantly smaller than that of the normal ones. Beside that, posterior transverse interarch discrepancy of of the HbE β thalassemia patients was significantly greater than that of the normal ones, which showed great difference between maxillary and mandibular intermolar widths. Conclusion: Posterior transverse interarch discrepancy of the HbE β thalassemia patients was different from that of the normal ones. The dentofacial abnormalities on the HbE β thalassemia patients aged 12–14 years primarily was due to disporposional dentofacial growth in the vertical, sagittal, and transversal directions, especially in the posterior region.Latar belakang: Salah satu akibat yang sering timbul pada penderita talasemia adalah disharmoni dentofasial berupa maloklusi skeletal kelas II yang merupakan kelainan hubungan maksila dan mandibula. Malrelasi ini dapat dipengaruhi oleh posisi

  15. Accelerated programmed cell death (apoptosis) in erythroid precursors of patients with severe beta-thalassemia (Cooley's anemia)

    Science.gov (United States)

    Yuan, J; Angelucci, E; Lucarelli, G; Aljurf, M; Snyder, L M; Kiefer, C R; Ma, L; Schrier, S L

    1993-07-15

    The profound and life-threatening anemia in patients with Cooley's anemia is ascribed primarily to intramedullary hemolysis (ineffective erythropoiesis), the cause of which is obscure. Based on prior morphologic data showing nuclear abnormalities, we hypothesized that accelerated apoptosis could occur in these erythroid precursors. The highly successful bone marrow (BM) transplantation program for patients with Cooley's anemia provided us with a unique opportunity to test this hypothesis. We obtained pretransplantation BM aspiration samples from patients undergoing BM transplantation in Pesaro, Italy and from their allogeneic donors. The erythroid precursors were isolated using ficoll sedimentation and then panning selecting fro CD45- cells. Cytospin and Giemsa staining showed that the separation provided greater than 90% erythroblasts. Five million of these erythroblasts were lysed and their DNA was isolated. There were obvious ladder patterns of DNA breakdown products in beta-thalassemia major samples, with less occurring in beta-thalassemia trait. Normal individuals showed only a slight smear of breakdown of DNA. These results indicate there is enhanced apoptosis in the erythroblasts in the BMs of Cooley's anemia patients. This finding might partially explain why most of these erythroblasts never survive to become mature erythrocytes.

  16. Status of 25-hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India.

    Science.gov (United States)

    Singh, Kritanjali; Kumar, Ravindra; Shukla, Anju; Phadke, Shubha R; Agarwal, Sarita

    2012-09-01

    Bone disease comprising of low bone mineral density (BMD), bone pain, and fractures is a characteristic feature of thalassemia. Vitamin D receptors (VDRs - FokI, TaqI, and Bsml) polymorphisms are closely related to low BMD at the lumbar spine and hips which can be used as a useful genetic marker in predicting bone disease in these patients. To find out the status of VDRs gene polymorphisms and its effect on osteoporosis in thalassemia patients of North Indian origin. BMD was measured in 40 beta-thalassemia major patients by dual-energy X-ray densitometry (DXA). Serum vitamin D levels were estimated by enzyme linked immunosorbant assay. VDR gene polymorphisms (FokI, TaqI, and BsmI) were analyzed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. About 80.6% cases were found to be vitamin D deficient. Z score of BMD of lumbar spine and hips were -2.31 ± 1.18 and -2.09 ± 0.89. Osteoporotic lumbar spine was observed in 42.5% cases of thalassemia. A positive correlation of vitamin D level was found with Z score of BMD of lumbar spine (r = 0.398, P value = 0.027). Polymorphisms of FokI and BsmI were found significantly correlated with BMD of lumbar spine. However, no association of BMD was observed with TaqI polymorphism. The present study showed a high prevalence of low BMD in thalassemia, suggesting that they should be targeted for DXA screening and osteoporosis prevention before permanent end organ bone damage occurs. The VDR genotyping can be used as additional test in individuals who are susceptible to osteoporosis so that early preventive measurements can be taken.

  17. Peripheral Neuropathy: Not a Feature of Childhood Thalassemia

    African Journals Online (AJOL)

    Sedat Işıkay

    3 Department of Pediatric Hematology and Oncology, Gaziantep Children's Hospital, Gaziantep, Turkey. Corresponding ... Abstract. Background: Chronic anemia in thalassemia patients may cause multiple complications such ... thalassemia at early stages is not a risk factor for polyneuropathy in thalassemia patients under.

  18. Trends in 5-, 10-, 20-, and 30-year survival rates of beta-thalassemia patients in Southern Iran, 1995-2016: A retrospective cohort study

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    Jafar Hassanzadeh

    2017-12-01

    Results: Five and 10-year survival rates remained unchanged since 1995-2016. Overall, 20- and 30-year survival rates were lower in younger birth cohorts than older ones. A declining trend was found in 20-year survival rate from 1995 to 2000 for all and also for thalassemia major patients, but was stable from 2001 to 2016. In addition, there was a declining trend in 30-year survival rate from 1995 to 2008 for all and also for thalassemia major patients, but was an increased trend from 2009 to 2016. Conclusion: Over the past two decades and in recent birth cohorts, the 20- and 30-year survival rates has declined. In other words, declining survival trends in the birth cohorts may be associated with some different causes of mortality such as exposure to the toxic effects of iron over time and the occurrence of diseaserelated mortality.

  19. Recent advances in β-thalassemias

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    Antonio Cao

    2011-05-01

    Full Text Available β-thalassemias, a group of autosomal recessive disorders resulting from reduced or absent production of β-globin chains from the β-globin locus, are very heterogeneous at the molecular level (for review see Weatherall & Clegg, 2001 and Cao & Galanello.1-2 More than 200 disease-causing mutations have been described to date. The large majority of mutations are simple nucleotide substitutions or deletions or insertions of oligonucleotides leading to frameshift. Rarely the β-thalassemias are the result of gross gene deletions. Homozygosity for β-thalassemia usually leads to the severe transfusion-dependent phenotype of thalassemia major. Treatment with a regular transfusion program and chelation therapy, aimed at reducing the transfusion iron-overload allows for normal growth and development and extends the life expectancy into the third to fifth decade. Bone marrow or cord blood transplantation (BMT from an HLA-identical sib represent an alternative to traditional transfusion and chelation therapy. More rarely the homozygous state for β-thalassemia leads to the phenotype of thalassemia intermedia. Individuals with thalassemia intermedia present later, and have milder anemia and only rarely require transfusion. However also patients with thalassemia intermedia are at risk to develop iron overload secondary to increased intestinal iron absorption because of ineffective erythropoiesis. In the last few years there has been a dramatic advancement in the field of chelation therapy, genetic factors ameliorating the clinical phenotype, hemoglobin switching, gene therapy with lentiviral vectors and development of embryonic-like stem cells obtained by transfection and reprogramming differentiated somatic cells with key regulatory factors. All these developments, which are the topics of this review, may lead in the long term to advances in the traditional and in the gene and stem-cell-based therapy.

  20. Therapeutic Hemoglobin Levels after Gene Transfer in β-Thalassemia Mice and in Hematopoietic Cells of β-Thalassemia and Sickle Cells Disease Patients

    OpenAIRE

    Laura Breda; Carla Casu; Sara Gardenghi; Nicoletta Bianchi; Luca Cartegni; Mohandas Narla; Karina Yazdanbakhsh; Marco Musso; Deepa Manwani; Jane Little; Gardner, Lawrence B.; Kleinert, Dorothy A.; Eugenia Prus; Eitan Fibach; Grady, Robert W.

    2012-01-01

    Preclinical and clinical studies demonstrate the feasibility of treating β-thalassemia and Sickle Cell Disease (SCD) by lentiviral-mediated transfer of the human β-globin gene. However, previous studies have not addressed whether the ability of lentiviral vectors to increase hemoglobin synthesis might vary in different patients.We generated lentiviral vectors carrying the human β-globin gene with and without an ankyrin insulator and compared their ability to induce hemoglobin synthesis in vit...

  1. Beta-thalassemia in Turkey.

    Science.gov (United States)

    Oner, R; Altay, C; Gurgey, A; Aksoy, M; Kilinç, Y; Stoming, T A; Reese, A L; Kutlar, A; Kutlar, F; Huisman, T H

    1990-01-01

    A review is presented of the various beta-thalassemia alleles observed in nearly 191 patients with beta-thalassemia major and their 182 heterozygous relatives. Determination was by gene amplification and dot-blot hybridization with synthetic probes, specific for 27 different mutations. Eighteen mutations have been observed; six of these account for nearly 83% of all thalassemia abnormalities. A new mutation, i.e. a G----C mutation at the acceptor splice site of IVS-I, was found in one teenager who was homozygous for this disease. The high consanguinity among the families was considered the main reason for the high number of patients with a homozygosity for the IVS-I-110 (G----A) mutation. Combinations of different mutations were present in many patients; some were mildly affected because of the specific mutation present on one chromosome. Combinations of classical beta-thalassemia and an abnormal hemoglobin mainly concerned Hb S. Hbs Knossos and Lepore were rare occurrences. A comparison of hematological data for adults with heterozygosities for some of the common alleles confirmed the low Hb A2 values in IVS-I-6 (T----C) heterozygotes and the high Hb F values for codon 8 (-AA), IVS-II-1 (G----A), and IVS-I-1 (G----A) heterozygotes.

  2. Decisions Regarding Pregnancy Termination Due to β-Thalassemia Major: a Mixed-Methods Study in Sistan and Baluchestan, Iran.

    Science.gov (United States)

    Moudi, Zahra; Miri-Moghaddam, Ebrahim

    2017-06-01

    In the present study, an embedded design was applied in order to conduct a one-year cross-sectional audit of chorionic villus sampling (CVS) and foetal outcomes affected by β-thalassemia major (β-TM) in a prenatal diagnosis (PND) setting. In addition, we explored the decisions regarding pregnancy termination among women whose pregnancy (or child) was affected by β-TM. In the quantitative phase, the available data in the clients' medical records were analysed, while the qualitative phase was performed using a grounded theory method. Interviews were performed with nine pregnant women who had decided against pregnancy termination despite positive CVS results, 11 mothers who had admitted their child to the thalassemia ward for blood transfusion, and 19 mothers who had received positive CVS results and had decided against pregnancy termination in the preceding year. Over one year, 18.6 % of women decided against pregnancy termination despite positive CVS results. Two main themes related to decisions against pregnancy termination emerged from the qualitative data: 1) Cognitive factors (questioning the reliability of the tests or doubts about the accuracy of the results, understanding disease recurrence, curability, perceived severity of the disease, and lack of "real-life experiences"); and 2) Sociocultural responsiveness (family opposition, responsibility before God, and self-responsiveness). All of the mentioned factors could intensify fear of abortion in couples due to possible regret, and encourage a decision against pregnancy termination.

  3. Beta thalassemia - a review

    Directory of Open Access Journals (Sweden)

    R Jha

    2014-09-01

    Full Text Available Thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. About 1.5% of the global population (80 to 90 million people are carriers of beta Thalassemia. More than 200 mutations are described in beta thalassemia. However not all mutations are common in different ethnic groups. The only effective way to reduce burden of thalassemia is to prevent birth of homozygotes. Diagnosis of beta thalassemia can be done by fetal DNA analysis for molecular defects of beta thalassemia or by fetal blood analysis. Hematopoietic stem cell transplantation is the only available curative approach for Thalassemia. Many patients with thalassemia in underdeveloped nations die in childhood or adolescence. Programs that provide acceptable care, including transfusion of safe blood and supportive therapy including chelation must be established.DOI: http://dx.doi.org/10.3126/jpn.v4i8.11609 Journal of Pathology of Nepal; Vol.4,No. 8 (2014 663-671

  4. Marcadores eletrocardiográficos para detecção precoce de doença cardíaca em pacientes com talassemia beta maior Electrocardiographic markers for the early detection of cardiac disease in patients with beta-thalassemia major

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    Kemal Nisli

    2010-04-01

    Full Text Available OBJETIVO: Analisar comparativamente a dispersão da onda P (DOP em pacientes com talassemia beta maior (β-TM e indivíduos saudáveis (controles para a detecção precoce do risco de arritmias. MÉTODOS: Oitenta e uma crianças com β-TM, com idades entre 4 e 19 anos, e 74 crianças saudáveis (grupo controle foram submetidas a exame eletrocardiográfico e ecocardiograma transtorácico de rotina para avaliação cardíaca. A DOP foi calculada como a diferença entre as durações máxima e mínima da onda P. RESULTADOS: Houve uma diferença estatisticamente significativa entre o grupo de estudo e o grupo controle no pico de velocidade do fluxo transmitral no início da diástole (E e na razão E/fluxo transmitral tardio (A. A duração máxima da onda P e a DOP foram significativamente maiores nos pacientes com β-TM do que nos indivíduos controles. CONCLUSÕES: O aumento da DOP em nossos pacientes com β-TM pode estar relacionado à depressão na condução intra-atrial, devido à dilatação atrial, e ao aumento da atividade simpática. Estes pacientes devem ser acompanhados atentamente devido à possibilidade de ocorrência de arritmias com risco de vida.OBJECTIVE: To comparatively evaluate P-wave dispersion (PWD in patients with β-thalassemia major (TM and healthy control subjects for the early prediction of arrhythmia risk. METHODS: Eighty-one children with β-TM, aged 4-19 years, and 74 healthy children (control group underwent routine electrocardiography and transthoracic echocardiography for cardiac evaluation. PWD was calculated as the difference between the maximum and the minimum P-wave duration. RESULTS: There was a statistically significant difference between study and control groups in peak early (E mitral inflow velocity and E/late (A velocity ratio. Maximum P-wave duration and PWD were found to be significantly higher in β-TM patients than in control subjects. CONCLUSIONS: Increased PWD in our β-TM patients might be related

  5. Sickle cell anemia and α-thalassemia: a modulating factor in homozygous HbS/S patients in Oman.

    Science.gov (United States)

    Hassan, S M; Al Muslahi, M; Al Riyami, M; Bakker, E; Harteveld, C L; Giordano, P C

    2014-01-01

    We report the general phenotype severity and the hematological presentation in a cohort of 125 sickle cell anemia (SCA) patients with identical homozygous HbS/S genotype and categorized by identical β(S) haplotype, both with and without alpha thalassemia. No clear general phenotype correlation was found when patients were compared regardless of the haplotype but overall, patients with homozygous alpha thalassemia (α-/α-) had the highest Hb, HCT, RBC and the lowest MCV, MCH and MCHC levels. When patients with identical haplotype were compared, the mildest hematological and clinical conditions were observed in patients of the Asian/Asian haplotype, also known as Arab-Indian haplotype, and carriers of α-thalassemia, suggesting an additional ameliorating effect of alpha thalassemia. In conclusion, our results show that alpha thalassemia improves the hematological conditions but amelioration of the general disease severity is only noticed when compared in cohorts of the same haplotype. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  6. Mutation spectrum of β-globin gene in thalassemia patients at Hasan Sadikin Hospital - West Java Indonesia.

    Science.gov (United States)

    Maskoen, Ani Melani; Rahayu, Nurul S; Reniarti, Lelani; Susanah, Susi; Laksono, Bremmy; Fauziah, Prima Nanda; Zada, Almira; Hidayat, Dadang S

    2017-12-30

    Thalassemia is the most common hereditary haemolytic anemia in Southeast Asia, in which Indonesia is among countries that are at a high risk for thalassemia. It has been reported that mutation in the beta-globin gene is responsible in severe Thalassemia. However, the spectrum of beta-globin gene mutations in Indonesian population varies in different regions . Thus, this study aimed to identify the most prevalent mutation of Thalassemia patients from the Hasan Sadikin Hospital, Bandung, using this as a reference hospital for Thalassemia in West Java. The three most prevalent mutations of beta globin (IVS1nt5, Cd26 (HbE), and IVS1nt1), were conducted in the beginning of this study. Mutations of 291 samples were detected by PCR-RFLP in the Molecular Genetic Laboratory, Faculty of Medicine Universitas Padjadjaran, Bandung. The prevalence of the beta globin gene mutation types were 47.4% IVS1nt5 homozygote, 9.9% compound heterozygote IVS1nt5/HbE, 5.4% compound heterozygote IVS1nt5/IVS1nt1, 1.4% compound heterozygote HbE/IVS1nt1, 1% HbE homozygote, 14.4% Compound heterzygote IVS1nt5/… (no paired mutation), 2.06% compound heterozygote HbE/… (no paired mutation), 1.3% compound heterozygote IVS1nt1/… (no paired mutation), and 7 samples were unidentified. The thalassemia mutation IVS1nt5 homozygote is the most common mutation found in Thalassemia patients at Hasan Sadikin Hospital, Bandung. The samples with unidentified results might carry mutations other than the three that are observed in the present study.

  7. Evaluation of the relationship of echocardiographic left vantricular mass to amounts of transfusions of packed cell and Deferoxamine in Thalassemia major

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    "Kocharian A

    2001-05-01

    Full Text Available The disease of thalassemia major requires mangement by repeated transfusions of packed cell and iron chelators such as deferoxamine. Today, serum ferritin is used for estimation of adequacy of the management. As the most morbidities and mortalities of the disease are the consequences of cardiac complications. Echocardiography is periodically periodically performed along with the management. In this case-control study, our object was to appoint if we can use “left ventricular mass” to evaluate the quality of past longterm managements for the patients.The variables of wieth, height, body suface area, total amounts of transfusion of packed all can deferoxamine during 5 years ago, crude left ventricular mass, indexed left ventricular mass ( left ventricular mass/ obdy suface area 123, ejection fraction, and shortening fraction, were measured in 34 thalassemia major patients of 16 to 18 years of age who had no sings or symptoms of any organ failure , particulary cardiac failure and had received repeated transfusions of paced cell and dederoxamine. In the control group, these variables (except amounts of transfusions of packed cell and deferoxamine were measured in 34 normal subjects of 16 to 18 years of age too. The variables of left ventricular mass, ejection fraction and shortening. Fraction were recorded on the echocardiographic paper. Then, the group of thalassemic patients were sectioned into two subgroups of ordered (well managed and non-ordered (bodly managed patients on the basis of 5 scales. Since, on the basis of international scates, absolute majority of the patients were set in the non- ordered group, the international scales were moderated and comparisons wee done.Only the means of variables of weight, height had body surface area were tooless and of indexed left ventricular mass was too more in thalassemics than normal subjects (P.value= 0.0001. Almost no significant difference was seen between two ordered and non- ordered subgroups

  8. Incidence of hepatocellular carcinoma in patients with thalassemia who had hepatitis C.

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    Shahla Ansari

    2013-06-01

    Full Text Available Hepatitis is the infections of a common cause disease among poly transfused patients. Hepatitis C is slowed progression and inducing HCC. This study assessed HCC incidences, the role of iron and possible antitumor activity of chelators in 170 thalassemia patients using deferoxamine (DFO therapy. They are diagnosed with Hepatitis C due to positive PCR-RNA. They are Treated with IFN. The follow up program including tests every 3 Months and PCR-RNA, AFP and liver US every 6 months. Whenever there was suspicion of liver malignancy, Biopsy was performed. From the total of 170 patients,  59.4% were male, and 40.6% were female. Mean age of thalassemia diagnosis was 2.69±5.403 (1-41 years and mean Age of hepatitis diagnosis was 17.37±7.263 (3-51 years. 92.4 % of Patient's MT, 0.6 % SS, 2.9% TI. the viral genome was 1a3a. 73.5% of patients had first course of therapy. The frequency of AFP greater than 10 was 5.9%. And the incidence of HCC was 0.6 %(1/170 with a 95% confidence interval. The main risk factor for HCC was HCV infection in TM patients, but it was iron activity in TI patients. Iron chelation with DFO appeared to play a Protective role.

  9. Low bone mineral density in thalassemia major: Sanjay Gandhi Post Graduate Institute experience and a brief focus on underlying factors behind the cause

    Directory of Open Access Journals (Sweden)

    Kritanjali Singh

    2014-11-01

    Full Text Available Thalassemia major is a genetic disorder and blood transfusion is critical for survival in these patients. Over the course of the past three decades, hyper transfusion therapy in these patients has shown has dramatically extended life expectancy and improved quality of life. Unfortunately, this type of therapy also increased the incidence of complications due to iron overload. The aim of this study was to assess bone mineral density (BMD in patients with β-thalassemia major and to determine their biochemical and hormonal profiles that may affect BMD. A cross- sectional study was carried out in Sanjay Gandhi – PGIMS, a tertiary care hospital over period of 3 years on all β-thalassemia major patients above 7 years receiving regular transfusion. Patients with transfusion dependent anaemia other than β thalassemia major were excluded. Physical examination, laboratory tests and bone density measurements were performed. Then, the data were analyzed. The total number of children over 7 years of age with β-thalassemia major receiving regular blood transfusions during the study period was 150. Mean hemoglobin was 7.8±0.6g/dL and the mean serum ferritin level 5295±2736 ng/mL. Short stature was seen in 54.7% boys and 28.7% of girls. Prevalence of lumbar osteoporosis and osteopenia were 42.5% and 37.5%. Femoral osteoporosis and osteopenia were present in 32.5% and 55% of the patients. Impaired puberty, hypothyroidism, diabetes mellitus, hypoparathyroidism were observed in 26%, 18%, 7%, and 15%, of patients, respectively. Nearly 75% of patients had low bone mineral density. Bone mineral density was significantly associated with short stature (P=0.002, hypogonadism (P=0.006, hypoparathyroidism (P=0.038, hypothyroidism (P=0.044 and vitamin D deficiency (P<0.001. High prevalence of complications among our thalassemics signifies the importance of more detailed studies along with therapeutic interventions. 重型地中海贫血是一种遗传疾病,

  10. Overview of the current issues and advances in haemopoietic stem cell transplantation for β-thalassemia major

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    S.S. Anak

    2011-12-01

    Full Text Available Bone marrow transplantation (BMT is the only possible curative treatment for β-thalassemia major. The largest experience occurred in Pesaro, Italy, where the BMT was applied after a standard risk assessment. The patients were divided into 3 risk classes based on liver size by physical examination, the presence or absence of fibrosis by liver biopsy, and adherence to regular iron chelation. Outcomes were mainly affected by the risk status. After modifications to the conditioning regimens, the risk of transplantation-related complications in highrisk recipients reduced considerably. As a result, outcomes after transplantation have become more similar across risk categories. For BMT, most centers use bone marrow instead of peripheral blood in thalassemia. Some studies showed that peripheral blood stem cell transplantation (PBSCT is better than BMT with regard to hematologic recovery, hospitalization period, leukemia-free survival, overall survival (OS, and transplant-related mortality (TRM. No significant differences were seen in grade II to IV acute GVHD (aGVHD; but the incidence of chronic GVHD (cGVHD was significantly higher in the PBSCT group. BMT from unrelated donors may offer similar results to those obtained using HLA-identical family donors, at least for patients who are not fully compliant with conventional treatment and do not yet show severe complications of iron overload. All studies conclude that MUD BMT might be a good alternative for patients with less risk factors. Another study concluded that, at present, due to high graft failure and GVHD rates, BMT from alternative donors should be restricted to patients who have poor life expectancies because they cannot receive adequate conventional treatment or because of alloimmunization to minor blood antigens. In another study unrelated cord blood transplantation (CBT was compared to related donor transplantation for children with β-thalassemia. The results were comparable to the

  11. Guidelines for diagnosis and management of Beta-thalassemia intermedia.

    Science.gov (United States)

    Karimi, Mehran; Cohan, Nader; De Sanctis, Vincenzo; Mallat, Naji S; Taher, Ali

    2014-10-01

    Beta-thalassemia intermedia (β-TI) is a genetic variant of beta-thalassemias with a clinical disorder whose severity falls between thalassemia minor and thalassemia major. Different genetic defects are involved in this disorder and, based on severity of disease, clinical complications like skeletal deformities and growth retardation, splenomegaly, extramedullary hematopoiesis, heart failure, and endocrine disorders may be present in untreated patients. Precise diagnosis and management are essential in these patients for prevention of later clinical complications. Diagnosis of TI is based on clinical and laboratory data. There are some treatment strategies like modulation of gamma-globulin chain production with hydroxyurea or other drugs, transfusion, splenectomy, and stem cell transplantation. Iron chelation therapy is also needed in many of these patients even if they are not transfused. The aim of this manuscript is to review the clinical manifestations, complications, genetic defects, and unmet treatments needs in TI.

  12. Incidence of Hepatocellular Carcinoma in Patients with Thalassemia Who Had Hepatitis C

    Directory of Open Access Journals (Sweden)

    Shahla Ansari

    2013-06-01

    Full Text Available Hepatitis is the infections of a common cause disease among poly transfused patients. Hepatitis C is slowed progression and inducing HCC. This study assessed HCC incidences, the role of iron and possible antitumor activity of chelators in 170 thalassemia patients using deferoxamine (DFO therapy. They are diagnosed with Hepatitis C due to positive PCR-RNA. They are Treated with IFN. The follow up program including tests every 3 Months and PCR-RNA, AFP and liver US every 6 months. Whenever there was suspicion of liver malignancy, Biopsy was performed. From the total of 170 patients, 59.4% were male, and 40.6% were female. Mean age of thalassemia diagnosis was 2.69±5.403 (1-41 years and mean Age of hepatitis diagnosis was 17.37±7.263 (3-51 years. 92.4 % of Patient’s MT, 0.6 % SS, 2.9% TI. the viral genome was 1a3a. 73.5% of patients had first course of therapy. The frequency of AFP greater than 10 was 5.9%. And the incidence of HCC was 0.6 %(1/170 with a 95% confidence interval. The main risk factor for HCC was HCV infection in TM patients, but it was iron activity in TI patients. Iron chelation with DFO appeared to play a Protective role.

  13. Sildenafil therapy in thalassemia patients with Doppler-defined risk of pulmonary hypertension.

    Science.gov (United States)

    Morris, Claudia R; Kim, Hae-Young; Wood, John; Porter, John B; Klings, Elizabeth S; Trachtenberg, Felicia L; Sweeters, Nancy; Olivieri, Nancy F; Kwiatkowski, Janet L; Virzi, Lisa; Singer, Sylvia T; Taher, Ali; Neufeld, Ellis J; Thompson, Alexis A; Sachdev, Vandana; Larkin, Sandra; Suh, Jung H; Kuypers, Frans A; Vichinsky, Elliott P

    2013-09-01

    Pulmonary hypertension is a common but often overlooked complication associated with thalassemia syndromes. There are limited data on the safety and efficacy of selective pulmonary vasodilators in this at-risk population. We, therefore, designed a 12-week, open-label, phase 1/2, pilot-scale, proof-of-principle trial of sildenafil therapy in 10 patients with β-thalassemia and at increased risk of pulmonary hypertension based on an elevated tricuspid regurgitant jet velocity >2.5 m/s on Doppler-echocardiography. Variables compared at baseline and after 12 weeks of sildenafil treatment included Doppler-echocardiographic parameters, 6-minute walked distance, Borg Dyspnea Score, New York Heart Association functional class, pulmonary function, and laboratory parameters. Treatment with sildenafil resulted in a significant decrease in tricuspid regurgitant jet velocity by 13.3% (3.0±0.7 versus 2.6±0.5 m/s, P=0.04), improved left ventricular end systolic/diastolic volume, and a trend towards a improved New York Heart Association functional class. No significant change in 6-minute walked distance was noted. Sildenafil was well tolerated, although minor expected adverse events were commonly reported. The total dose of sildenafil (mg) was strongly correlated with percent change in nitric oxide metabolite concentration in the plasma (ρ=0.80, P=0.01). There were also significant increases in plasma and erythrocyte arginine concentrations. Our study suggests that sildenafil is safe and may improve pulmonary hemodynamics in patients at risk of pulmonary hypertension; however, it was not demonstrated to improve the distance walked in 6 minutes. Clinical trials are needed to identify the best treatment strategy for pulmonary hypertension in patients with β-thalassemia. (clinicaltrials.gov identifier: NCT00872170).

  14. Estimates of the effect on hepatic iron of oral deferiprone compared with subcutaneous desferrioxamine for treatment of iron overload in thalassemia major: a systematic review

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    Caro J

    2002-11-01

    Full Text Available Abstract Background Beta thalassemia major requires regular blood transfusions and iron chelation to alleviate the harmful accumulation of iron. Evidence on the efficacy and safety of the available agents, desferrioxamine and deferiprone, is derived from small, non-comparative, heterogeneous observational studies. This evidence was reviewed to quantitatively compare the ability of these chelators to reduce hepatic iron. Methods The literature was searched using Medline and all reports addressing the effect of either chelator on hepatic iron were considered. Data were abstracted independently by two investigators. Analyses were performed using reported individual patient data. Hepatic iron concentrations at study end and changes over time were compared using ANCOVA, controlling for initial iron load. Differences in the proportions of patients improving were tested using χ2. Results Eight of 11 reports identified provided patient-level data relating to 30 desferrioxamine- and 68 deferiprone-treated patients. Desferrioxamine was more likely than optimal dose deferiprone to decrease hepatic iron over the average follow-up of 45 months (odds ratio, 19.0, 95% CI, 2.4 to 151.4. The degree of improvement was also larger with desferrioxamine. Conclusions This analysis suggests that desferrioxamine is more effective than deferiprone in lowering hepatic iron. This comparative analysis – despite its limitations – should prove beneficial to physicians faced with the challenge of selecting the optimal treatment for their patients.

  15. Conservative management of Beta-thalassemia major cases in the sub-division level hospital of rural West Bengal, India

    OpenAIRE

    Bandyopadhyay, Ujjwal; Kundu, Dipankar; Sinha, Arijit; Banerjee, Kallol; Bandyopadhyay, Ranjana; Mandal, Tridibeshwar; Ray, Debes

    2013-01-01

    Background: The ideal management of thalassemia involves a multidisciplinary therapeutic team approach and should be preferably done at a comprehensive thalassemia care center with all sorts of specialists and the backup of a well-equipped blood bank. However, in developing country like ours, these facilities are not available in rural set up. So, a situation where conservative therapy with regular blood transfusion is the only choice left to innumerable thalassemic children. Objective: To ev...

  16. Profile of deferasirox for the treatment of patients with non-transfusion-dependent thalassemia syndromes

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    Ricchi P

    2015-12-01

    Full Text Available Paolo Ricchi,1 Maria Marsella1,2 1UOSD Malattie Rare del Globulo Rosso, Azienda Ospedaliera di Rilievo Nazionale “Antonio Cardarelli”, Naples, 2UOC Pediatria, Azienda Ospedaliera di Rilievo Nazionale G. Rummo, Benevento, Italy Abstract: It has been clearly shown that iron overload adds progressively significant morbidity and mortality in patients with non-transfusion-dependent thalassemia (NTDT. The lack of physiological mechanisms to eliminate the excess of iron requires effective iron chelation therapy. The reduced compliance to deferoxamine and the risk of severe hematological adverse events during deferiprone treatment have limited the use of both these drugs to correct iron imbalance in NTDT. According to the principles of evidence-based medicine, following the demonstration of the effectiveness and the safety of deferasirox (Exjade® in a prospective, randomized, controlled trial, deferasirox was approved by the US Food and Drug Administration in May 2013 for the treatment of iron overload associated with NTDT. This review, assessing the available scientific literature, will focus on the profile of DFX in the treatment of non-transfusional hemosiderosis in patients with NTDT. Keywords: non-transfusion-dependent thalassemia, deferasirox, profile, iron overload

  17. Protective action of deferiprone and deferoxamine in erythrocytes isolated from patients with β-thalassemias

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    Alisson F. Santos

    2009-01-01

    Full Text Available One of the most deleterious consequences of iron overload in thalassemia is the presence of non-transferrin bound iron (NTBI, a free radical that acts as a catalyst for free oxygen radicals, in particular for hydroxyl free radicals (OH.. These radicals oxidize both membrane lipids and proteins causing irreversible damage to biologically important molecules and cellular structures. Treatment with iron chelators has been important to improve survival of these individuals. The aim of this work was the study on the effects of deferoxamine (DFO and deferiprone (DFP on erythrocytes under the pro-oxidative action of TBHP isolated from normal individuals and patients with β-thalassemia. The in vitro action of deferoxamine and deferiprone on the oxidative metabolism of erythrocytes from β-thalassemic patients treated at the Centro de Hematologia e Hemoterapia do Paraná (HEMEPAR, Brazil, under the pro-oxidative action of TBHP was studied. Methemoglobin concentrations, reduced glutathione (GSH, hemolysis indexes and the enzyme activities of G6-PD and GR were determined. The oxidation indexes were higher in erythrocytes of β-thalassemic individuals than those from normal individuals. Treatment of the normal and β-thalassemic erythrocytes with DFO and/or DFP protected against the formation of GSH promoted by TBHP.

  18. Coinheritance of Β-Thalassemia and Sickle Cell Anaemia in ...

    African Journals Online (AJOL)

    GB

    2016-11-06

    Nov 6, 2016 ... hemoglobin and this results in reduced Hb in red blood cells (RBC), decreased RBC production and anemia(1,2). Beta -thalassemia which could be classified as beta thalassemia major (Яє), beta thalassemia minor (Я+) and beta thalassemia intermedia (2) is mostly caused by point mutations or small.

  19. Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major

    Science.gov (United States)

    Andreani, Marco; Radio, Francesca Clementina; Testi, Manuela; De Bernardo, Carmelilia; Troiano, Maria; Majore, Silvia; Bertucci, Pierfrancesco; Polchi, Paola; Rosati, Renata; Grammatico, Paola

    2009-01-01

    Hepcidin is a 25-amino acid peptide, derived from cleavage of an 84 amino acid pro-peptide produced predominantly by hepatocytes. This molecule, encoded by the hepcidin antimicrobial peptide (HAMP) gene shows structural and functional properties consistent with a role in innate immunity. Moreover, as demonstrated in mice and humans, hepcidin is a major regulator of iron metabolism, and acts by binding to ferroportin and controlling its concentration and trafficking. In this study we investigated the influence that mutations in HAMP and/or hemocromatosis (HFE) genes might exert on iron metabolism in a group of poly-transfused thalassemic patients in preparation for bone marrow transplantation. Our results showed that the presence of the c.-582 A>G polymorphism (rs10421768) placed in HAMP promoter (HAMP-P) might play a role in iron metabolism, perhaps varying the transcriptional activation that occurs through E-boxes located within the promoter. PMID:19734422

  20. Subtrochanteric femoral fracture in a 26 year old woman affected by beta-thalassemia major due to minor trauma: analysis of bone modification causing the complication.

    Science.gov (United States)

    Di Matteo, R; Liuzza, F; Pezzillo, F; Gerardino, L; Maccauro, G

    2007-01-01

    Beta-Thalassemia Major (TM), firstly described by Cooley, is and inherited blood disorder that leads to anaemia due to an imbalanced globin chain synthesis effecting erythroid maturation and red cells survival and requests regular life-long blood transfusions and iron-chelating therapy. Among all the complications and organ diseases, osteopenia and osteoporosis, as progressive diseases are getting important cause of morbidity in a population whose longevity is increasing. The authors describe a case of a 26-year-old female with Beta-Thalassemia Major affected by a subtrochanteric fracture of the right femur on minor trauma. Cardiovascular, endocrinologic and thrombotic pattern leading to bone modifications are reported and Literature reviewed. Fracture was surgically treated with anterograde reconstructive intramedullary locked nail (AFN, Synthes) with 2 distal screws inserted in a static mode.

  1. Hypoparathyroidism in transfusion-dependent patients with beta-thalassemia.

    Science.gov (United States)

    Angelopoulos, Nicholas G; Goula, Anastasia; Rombopoulos, Grigorios; Kaltzidou, Victoria; Katounda, Eugenia; Kaltsas, Dimitrios; Tolis, George

    2006-01-01

    Hypoparathyroidism is thought to be a rare consequence of iron overload seen in beta-thalassemic transfused patients. This study was conducted to determine the prevalence of hypoparathyroidism in a large number of beta-thalassemic patients, and its potential correlation with the presence of other endocrinopathies caused by iron overload. Serum and urine biochemical parameters were measured in 243 thalassemic patients (136 females and 107 males) in order to determine the prevalence of hypoparathyroidism and evaluate bone turnover. The patients were divided into two groups according to the presence of hypoparathyroidism. We compared the prevalence of other endocrinopathies and disease complications in the two groups. Hypoparathyroidism was detected in 13.5% of the patients (33 subjects; 17 males and 16 females). Serum-intact parathyroid hormone, and total and ionized calcium were significantly lower, while phosphorus was significantly higher in thalassemic patients with hypoparathyroidism. The reduction in BMD was more prominent in normal thalassemic patients (Z score = -2.246 +/- 0.97) compared with those with hypoparathyroidism (Z score = -1.975 +/- 0.89), although the difference was not statistically significant. Disturbed glucose metabolism was more common in patients with hypoparathyroidism (P < 0.05). In addition, heart dysfunction was statistically more frequent in this group (odds ratio = 2.51, P < 0.05). Hypoparathyroidism is a not infrequently observed complication in thalassemic patients. Since the concentration of ferritin is not a valuable tool in the prediction of the development of hypoparathyroidism, parathyroid function should be tested periodically, particularly when other iron overload-associated complications occur.

  2. Alpha thalassemia among sickle cell anaemia patients in Kampala ...

    African Journals Online (AJOL)

    thalassaemia is known to modulate sickle cell anaemia, its magnitude and significance in Uganda have hitherto not been described. Objectives: To determine the prevalence of α+thalassaemia among sickle cell anaemia patients in Mulago ...

  3. Pattern of hemoglobinopathies and thalassemias in upper Assam region of North Eastern India: high performance liquid chromatography studies in 9000 patients.

    Science.gov (United States)

    Baruah, Mrinal Kumar; Saikia, Malavika; Baruah, Aditi

    2014-01-01

    The hereditary hemoglobin (Hb) disorders are the most commonly encountered single gene disorders in India. Data pertaining to the pattern of hemoglobinopathies and thalassemias is scarce in North East India, and hence it was considered worthwhile to study these disorders using a large series of patients referred to a clinical diagnostic laboratory. A total of 9000 patients referred for Hb variant analysis were studied to identify hemoglobinopathies and thalassemias in Upper Assam region of North East India. This study was performed by high performance liquid chromatography (HPLC) using BIORAD variant Hb typing system. Out of 9000 patients studied, abnormal Hb fractions were seen in 5320 patients. The HbE gene was detected in 4315 patients of which HbE trait was seen in 2294 followed by HbE disease in 1892. There were 114 HbE beta thalassemia patients and 15 double heterozygotes of HbE with HbS or HbD. Beta thalassemia trait was seen in 313 patients and beta thalassemia homozygous in 32. HbS gene was detected in 460 patients comprising of HbS trait in 189, HbS disease in 203, S beta thalassemia in 53 and double heterozygotes of SD and ES in 15. The rest comprised of HbD trait in 6, delta beta thalassemia in 33, hereditary persistence of fetal hemoglobin trait in 5 and J chain hemoglobinopathy in 8 patients. Evidence of alpha thalassemia though suspected, could not be confirmed. A high incidence of hemoglobinopathies and thalassemias and their combinations is unique for this part of the country.

  4. Genotyping of Kell, Duffy, Kidd and RHD in patients with b Thalassemia

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    Castilho Lilian

    2000-01-01

    Full Text Available Determination of Rh, Kell, Duffy and Kidd phenotypes in addition to ABO is used to prevent the alloimmunization to red blood cells (RBCs antigens and as part of the antibody identification process in patients with beta Thalassemia. However, phenotyping in these patients can be time consuming and difficult to interpret. In these situations, it would be valuable to have an alternative to hemagglutination tests to determine the patient's antigen profile. We used PCR-RFLP to genotype such patients. DNA was prepared from 50 patients with beta Thalassemia who had been phenotyped by routine hemagglutination, and tested for Kell, Kidd, Duffy/GATA mutation by PCR-RFLP. RHD/non-D was analysed by PCR product size associated to RHD gene sequence in intron 4 and exon 10/3'UTR. The genotyping assays were performed without knowledge of phenotype results. For RHD/non-D, 47 were RhD+ and RHD+/RHCE+, and 3 were RhD- and RHD-/RHCE+. For Kell, 48 kk were K2K2 and 2 Kk were K1K2. For Duffy, of 44 samples that had normal GATA box, 8 Fy(a+b- were FYA/FYA, 15 Fy(a+b+ were FYB/FYB, and 19 Fy(a+b+ were FYA/FYB; of the other 4 samples 3 were FYA/FYB and heterozygous GATA mutation, and 1 Fy(a-b- was FYB/FYB, homozygous GATA mutation. Two samples phenotyped as Fy(a+b- that had normal GATA , presented the 265T/298A mutations and two samples phenotyped as Fy(a-b+ were genotyped was FYA/FYB.. For Kidd , 15 Jk(a+b were JKA/JKA, 12 Jk(a-b+ were JKB/JKB, and 20 Jk(a+b+ were JKA/JKB. Three samples phenotyped as JK(a+b+ were genotyped as JKB/JKB. Genotype is more accurate than phenotype for determination of blood groups in polytransfused patients with betaThalassemia. Genotyping in these patients can be helpful to select antigen-negative RBCs for transfusion.

  5. The questioning for routine monthly monitoring of proteinuria in patients with β-thalassemia on deferasirox chelation.

    Science.gov (United States)

    Bayhan, Turan; Ünal, Şule; Ünlü, Ozan; Küçüker, Hakan; Tutal, Anıl Doğukan; Karabulut, Erdem; Gümrük, Fatma

    2017-05-01

    Iron chelation therapy is one of the mainstays of the management of the patients with β-thalassemia (BT) major. Deferasirox is an oral active iron chelating agent. Proteinuria is one of the potential renal adverse effects of deferasirox, and monthly follow-up for proteinuria is suggested by Food and Drug Administration and European Medicine Agency. We aimed to investigate the necessity for monthly monitoring for proteinuria among patients with BT on deferasirox. A retrospective laboratory and clinic data review was performed for patients with BT major or intermedia who were treated with deferasirox chelation therapy. All patients were monitored for proteinuria for every 3 or 4 weeks after the initiation of deferasirox with serum creatinine and spot urine protein/creatinine ratios. The median follow-up time of the 37 (36 BT major and one BT intermedia) patients was 44 months. Seven patients (18.9%) developed significant proteinuria (ratio ≥0.8). Of the 1490 measurements, 12 tests (0.8%) were proteinuric. Urine proteinuria resolved in all of the patients during the follow-up. The risk of proteinuria was higher at ages below a cut-off point of 23 years (p = 0.019). Patients, who were on deferasirox at doses above a cut-off dose of 29 mg/kg/day, were found to have higher risk of proteinuria development (p = 0.004). Proteinuria resolves without any complication or major intervention according to our results. Potentially more risky groups (age below 23 years old and receivers above a dose of 29 mg/kg/day) might be suggested to be followed monthly, besides monitoring all of the patients.

  6. Risk of fracture in transfusion-naïve thalassemia population: A nationwide population-based retrospective cohort study.

    Science.gov (United States)

    Chen, Yu-Guang; Lu, Chieh-Sheng; Lin, Te-Yu; Lin, Cheng-Li; Tzeng, Huey-En; Tsai, Chun-Hao

    2018-01-01

    In thalassemia major or transfusion-dependent thalassemia patients, osteoporosis-related bone complications such as fracture events are common. However, no studies have investigated the risk of fracture in transfusion-naïve thalassemia population. Therefore, we conducted a longitudinal nationwide cohort study to determine whether this population has an increased risk of fracture. This nationwide, population-based cohort study analyzed data from 1998 to 2010 obtained from the Taiwanese National Health Insurance Research Database, with a follow-up period extending until the end of 2011. We identified cases with transfusion-naïve thalassemia and selected a comparison cohort that was frequency-matched according to age and year of diagnosis of thalassemia at a ratio of one subject with thalassemia to four subjects in the control group. We analyzed the risk of fracture events to occur in transfusion-naïve thalassemia cases by using Cox proportional hazards regression models. Totally, the study recruited 1369 transfusion-naïve thalassemia subjects and 5416 controls. We identified a total of 71 cases with fracture events within the thalassemia group and 204 within the control group. The overall risks for developing fracture events were 1.35-fold higher in transfusion-naïve thalassemia individuals than the comparison cohort after adjusting for age, sex and comorbidities. Most fracture events were observed in male transfusion-naïve thalassemia individuals rather than the normal population. In subgroup analysis, there was a 1.46-fold higher risk to develop upper-limb fracture in the thalassemia group than in the control groups. In conclusion, our long-term, cohort study results showed that there was a higher risk for the development of fractures in transfusion-naïve thalassemia individuals, particularly in male cases. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  7. Urinary iron excretion induced by intravenous infusion of deferoxamine in ß-thalassemia homozygous patients

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    Boturão-Neto E.

    2002-01-01

    Full Text Available The purpose of the present study was to identify noninvasive methods to evaluate the severity of iron overload in transfusion-dependent ß-thalassemia and the efficiency of intensive intravenous therapy as an additional tool for the treatment of iron-overloaded patients. Iron overload was evaluated for 26 ß-thalassemia homozygous patients, and 14 of them were submitted to intensive chelation therapy with high doses of intravenous deferoxamine (DF. Patients were classified into six groups of increasing clinical severity and were divided into compliant and non-compliant patients depending on their adherence to chronic chelation treatment. Several methods were used as indicators of iron overload. Total gain of transfusion iron, plasma ferritin, and urinary iron excretion in response to 20 to 60 mg/day subcutaneous DF for 8 to 12 h daily are useful to identify iron overload; however, urinary iron excretion in response to 9 g intravenous DF over 24 h and the increase of urinary iron excretion induced by high doses of the chelator are more reliable to identify different degrees of iron overload because of their correlation with the clinical grades of secondary hemochromatosis and the significant differences observed between the groups of compliant and non-compliant patients. Finally, the use of 3-9 g intravenous DF for 6-12 days led to a urinary iron excretion corresponding to 4.1 to 22.4% of the annual transfusion iron gain. Therefore, continuous intravenous DF at high doses may be an additional treatment for these patients, as a complement to the regular subcutaneous infusion at home, but requires individual planning and close monitoring of adverse reactions.

  8. Rapid monitoring of iron-chelating therapy in thalassemia major by a new cardiovascular MR measure: the reduced transverse relaxation rate

    Science.gov (United States)

    Kim, Daniel; Jensen, Jens H.; Wu, Ed X.; Feng, Li; Au, Wing-Yan; Cheung, Jerry S.; Ha, Shau-Yin; Sheth, Sujit S.; Brittenham, Gary M.

    2011-01-01

    In iron overload, almost all the excess iron is stored intracellularly as rapidly mobilizable ferritin iron and slowly exchangeable hemosiderin iron. Increases in cytosolic iron may produce oxidative damage that ultimately results in cardiomyocyte dysfunction. Because intracellular ferritin iron is evidently in equilibrium with the low-molecular-weight cytosolic iron pool, measurements of ferritin iron potentially provide a clinically useful indicator of changes in cytosolic iron. The cardiovascular magnetic resonance (CMR) index of cardiac iron used clinically, the effective transverse relaxation rate (R2*), is principally influenced by hemosiderin iron and changes only slowly over several months, even with intensive iron-chelating therapy. Another conventional CMR index of cardiac iron, the transverse relaxation rate (R2), is sensitive to both hemosiderin iron and ferritin iron. We have developed a new MRI measure, the ‘reduced transverse relaxation rate’ (RR2), and have proposed in previous studies that this measure is primarily sensitive to ferritin iron and largely independent of hemosiderin iron in phantoms mimicking ferritin iron and human liver explants. We hypothesized that RR2 could detect changes produced by 1 week of iron-chelating therapy in patients with transfusion-dependent thalassemia. We imaged 10 patients with thalassemia major at 1.5 T in mid-ventricular short-axis planes of the heart, initially after suspending iron-chelating therapy for 1 week and subsequently after resuming oral deferasirox. After resuming iron-chelating therapy, significant decreases were observed in the mean myocardial RR2 (7.8%, p 0.90). Although the difference between changes in RR2 and R2 was not significant (p > 0.3), RR2 was consistently more sensitive than R2 (and R2*) to the resumption of iron-chelating therapy, as judged by the effect sizes of relaxation rate differences detected. Although further studies are needed, myocardial RR2 may be a promising

  9. Cortisol response to low dose versus standard dose (back-to-back adrenocorticotrophic stimulation tests in children and young adults with thalassemia major

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    Ashraf T Soliman

    2013-01-01

    Full Text Available Background: Thalassemia major patients with repeated blood transfusion have high prevalence of endocrinopathies due to iron overload. Materials and Methods: We examined the adrenocortical function in 23 thalassemic patients (10 children and 13 young adults aged 8-26 years. Serum cortisol and dehydroepiandrosterone sulfate (DHEA-S concentrations were determined in each subject before blood transfusion both in basal condition and after low dose (LD (1 μg, followed by standard dose (SD (250 μg, respectively with synthetic corticotrophin beta 1-24 ACTH (Synacthen, Ciba. Normal controls were a group of 13 age- and sex-matched normal subjects. Results: Using a peak total cortisol cutoff level of 550 nmol/L and increments of 200 μg above basal cortisol, adrenal insufficiency (AI was demonstrated in 8 patients (34.7% after the LD ACTH and in 2 patients (8.7% after SD cosyntropin (ACTH test, but none of the controls. Using a peak total cortisol cutoff level of 420 nmol/L and increments of 200 μg above basal cortisol, AI was demonstrated in 5 patients (21.7% after the LD ACTH and in 2 patients after SD ACTH test (8.7%, but none of controls. All patients with biochemical AI were asymptomatic with normal serum sodium and potassium concentrations and had no history suggestive of adrenal pathology. The peak cortisol concentrations in thalassemic patients with impaired adrenal function both after 1 μg and 250 μg cosyntropin (294 ± 51 nmol/L and 307 ± 58.6 were significantly lower than those with patients with normal (454 ± 79.7 nmol/L and 546.1 ± 92.2 nmol/L, respectively and controls (460.2 ± 133.4 nmol/L and 554.3 ± 165.8 nmol/L, respectively. Adolescents and young adults, but not children with thalassaemia, had significantly lower peak cortisol concentration after SD ACTH versus controls. Peak cortisol response to LD ACTH was correlated significantly with peak cortisol response to SD in all patients (r = 0.83, P < 0.0001. In adolescents and

  10. Frequency distribution of sickle cell anemia, sickle cell trait and sickle/beta-thalassemia among anemic patients in Saudi Arabia.

    Science.gov (United States)

    Elsayid, Mohieldin; Al-Shehri, Mohammed Jahman; Alkulaibi, Yasser Abdullah; Alanazi, Abdullah; Qureshi, Shoeb

    2015-08-01

    Notwithstanding, the growing incidence of sickle cell hemoglobinopathies (SCH) such as sickle cell anemia (SCA) or sickle cell disease, sickle/beta-thalassemia; the exact prevalence remains obscure in Saudi Arabia. Hence, this study is an attempt to determine the frequency of SCA and sickle cell trait (SCT) among all anemic patients with SCH treated at the King Abdul-Aziz Medical City (KAMC), Riyadh, Saudi Arabia. Furthermore, the hemoglobin (Hb) S and other Hb patterns (Hb AS and Hb F) were also estimated in SCA and SCT patients. Results of Hb capillary electrophoresis performed on all patients with SCH from January 2011 to December 2013 were evaluated retrospectively. Of a total of 3332 patient data analyzed, 307 were anemic patients (58% males and 42% females) with SCH. The sickling test showed all the patients to be positive. Hb electrophoresis revealed the incidence of 96.7%, 3.3%, and 0% of the patients suffered from SCA, SCT and sickle/beta-thalassemia, respectively. Patients with SCA had a higher level of Hb F and showed no crisis when compared with other SCA patients who had lower or no Hb F levels. SCA is relatively frequent among males (56.4%) than females out of all patients with SCH. The SCA incidence was more common (48.5%) among children, frequency of SCT among adult age group was 1.6%, while sickle/beta-thalassemia was 0%.

  11. Lived experiences of Iranian parents of beta-thalassemia children

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    Shahraki-vahed A

    2017-06-01

    Full Text Available Aziz Shahraki-vahed,1 Mohammadreza Firouzkouhi,1 Abdolghani Abdollahimohammad,1 Jamile Ghalgaie2 1Department of Medical Surgical, Faculty of Nursing and Midwifery, Zabol University of Medical Science, Zabol, Iran; 2Emam Khomeni Hospital, Zabol University of Medical Science, Zabol, Iran Introduction: Thalassemia is a chronic blood disease, which imposes adverse effects on patients and their families. Parents of such patients, given that they had the thalassemia trait, hold themselves responsible for their children’s disease in addition to other difficulties, bear the burden of guilt and hopelessness and worry about the health and future of their children. This study aimed to explore the lived experiences of parents of children with thalassemia. Methods: The present research was conducted using a descriptive phenomenological approach. A purposive sampling was carried out until data saturation. Participants included 15 parents of children with thalassemia who were referred to the Thalassemia Center of Zabol to perform therapeutic procedures for their child in 2016. Results: Extracted interviews were analyzed employing Colaizzi’s method, and four main themes were obtained, including “Gray marriage consanguinity”, “Burdened with increased number of thalassemia children”, “Socio-familial worries” and “Inexpressible wishes for having an ideal society”. Conclusion: The results revealed that parents of children with thalassemia experience a wide range of problems in different aspects, such as physical, emotional, mental, social, economic and familial dimensions. Their experiences are valuable and can help in achieving a better understanding of their problems, which in turn can enable the members of the treatment team to play a more active role and the society to have a better understanding of this disease. Keywords: descriptive phenomenology, lived experiences, thalassemia major, Colaizzi’s analysis approach

  12. A pharmaco-economic evaluation of deferasirox for treating patients with iron overload caused by transfusion-dependent thalassemia in Taiwan

    Directory of Open Access Journals (Sweden)

    Wan-Ling Ho

    2013-04-01

    Conclusion: Compared with infusional deferoxamine, oral deferasirox improved clinical outcomes and quality of life in terms of iron chelation in transfusion-dependent patients with thalassemia at a reasonable cost from a healthcare perspective.

  13. A retinopathy in young patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait: a case report.

    Science.gov (United States)

    Ouzzif, Zohra; El Maataoui, Aissam; Traore, Zeinab; Biaz, Asmae; El Machtani, Samira; Dami, Abdellah; Bouhsain, Sanae; Messaoudi, Nezha; Benchrifa, Fatiha

    2017-01-18

    The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis. A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygous alpha thalassemia. His mother has Sickle cell anaemia (Hb SS) and his father is a carrier of heterozygous alpha-thalassemia status that it was unknown before. This case report describes a proliferative retinopathy in a 16 year-old patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait.

  14. Simple and Easy to Perform Preimplantation Genetic Diagnosis for β-thalassemia Major Using Combination of Conventional and Fluorescent Polymerase Chain Reaction

    Directory of Open Access Journals (Sweden)

    Rasoul Salehi

    2017-01-01

    Full Text Available Background: Thalassemias are the most common monogenic disorders in many countries throughout the world. The best practice to control the prevalence of the disease is prenatal diagnosis (PND services. Extensive practicing of PND proved effective in reducing new cases but on the other side of this success high abortion rate is hided, which ethically unfair and for many couples, especially with a previous experience of a therapeutic abortion, or moral concerns, is not a suitable choice. Preimplantation genetic diagnosis (PGD is a strong alternative to conventional PND. At present PGD is the only abortion free fetal diagnostic process. Considering the fact that there are more than 6000 single gene disorders affecting approximately 1 in 300 live-births, the medical need for PGD services is significant. Materials and Methods: In the present study development of a PGD protocol for a thalassemia trait couple using nested multiplex fluorescent polymerase chain reaction (PCR for the combination of polymorphic linked short tandem repeat (STR markers and thalassemia mutations is described. Restriction fragment length polymorphism used to discriminate between wild and mutated alleles. Results: In PGD clinical cycle, paternal and maternal alleles for D11S988 and D11S1338 STR markers were segregated as it was expected. PCR product for IVSII-1 mutation was subsequently digested with BtscI restriction enzyme to differentiate normal allele from the mutant allele. The mother's mutation, being a comparatively large deletion, was detectable through size differences on agarose gel. Conclusion: The optimized single cell protocol developed and evaluated in this study is a feasible approach for preimplantation diagnosis of β-thalassemia in our patients.

  15. Coping behaviors in families with children suffering from thalassemia major and evaluating the implementation effect of nursing intervention on these behaviors

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    Shayesteh Salehi

    2016-02-01

    Full Text Available Thalassemia disease in children, make the family and especially parents faced with many challenges. Better and more effective coping behaviors in father and mother, are followed by increased quality level of the sick child's life and the other family members. Therefore, the present study is conducted aims to evaluate the implementation effect of nursing intervention on coping behaviors of the families with children with Thalassemia major in Thalassemia Center of Doctor Mohammad Kermanshahi Hospital in Kermanshah at 2015. The research has been semiexperimental and the required information was collected through a 45-articles questionnaire of Maccubin called CHIP. The sample consisted of 38 families with children with Thalassemia major who admitted to the hospital of Doctor Mohammad Kermanshahi in Kermanshah that were selected by convenience sampling method in 2015. First, the coping behaviors of these families were determined and then divided into two groups of 19 individuals randomly that nursing intervention was implemented for 6 weeks in four sessions for each member of intervention group individually. Pre-intervention results indicated that the obtained scores in the first and third scales in each two groups is less than normal. Total post-test scores of coping behaviors in the control group have increased near to 1.05 units compared to the pre-test scores. But post-test scores of the families in the test group have increased near to 10.21 units compared to pre-test scores average. To compare the difference of pre-test and post-test scores between both control and test groups, independent t-test was used and based on the results of this test, a significant difference between two groups was observed (P<0.05, df=36, t=-5.928. So, the increase in the scores from pre-test to post-test in the test group was significantly higher. Thus, the implementation of intervention causes a significant increase in coping behaviors of families in the test group

  16. Effects of the anti-receptor activator of nuclear factor kappa B ligand denusomab on beta thalassemia major-induced osteoporosis

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    Mohamed A Yassin

    2014-01-01

    Full Text Available Introduction: Osteoporosis represents the second most common cause of endocrinopathy in patients with beta thalassemia major (BTM. Some drugs proved effective to reduce vertebral and non-vertebral fracture risk. Denosumab is a fully human monoclonal antibody to the receptor activator of nuclear factor kappa B ligand (RANKL, a member of the tumor necrosis factor receptor superfamily essential for osteoclastogenesis. The efficacy and safety of denosumab in BTM-induced osteoporosis has not been tested. Objective: To evaluate the efficacy and safety of anti-RANKL on the biochemical and radiological parameters of bone mineralization in patients with BTM-induced osteoporosis. Design: The study population was selected using the random sampling method from the patient′s database of our thalassemia clinic. Transfusion-dependent BTM patients above 18 years with no history of treatment with bisphosphonates were randomly selected. Bone mineral density (BMD of the lumbar spine (LS and right femoral neck (FN were measured by dual energy X-ray absorption (DEXA scan using a calibrated method. Independent factors likely to be associated with low bone mass were determined and included in the analysis to ascertain possible associations. Patients and Methods: We studied 30 patients with BTM-induced osteoporosis as per World Health Organization criteria (T Score of less than − 1.0 being defined as osteopenic and a T Score of less than − 2.5 being referred as osteoporotic. 19 males and 11 females aged between 18 and 32 years, with full pubertal development (Tanner′s stage 5 at the time of the study. Their mean serum ferritin concentration was 3557 ng ± 1488 ng/ml. Every patient underwent DEXA scan as a baseline and after 12 months of denosumab therapy. Biochemical evaluation including serum concentrations of creatinine, Na, K, calcium, phosphorus, parathormone, bone specific alkaline phosphatase and type 1 collagen carboxy telopetide (ICCT using enzyme

  17. Hydroxyurea for hemoglobin E/β-thalassemia: a systematic review and meta-analysis.

    Science.gov (United States)

    Algiraigri, Ali H; Kassam, Aliya

    2017-12-01

    Hemoglobin E-beta thalassemia (Hb E/β-thalassemia) is a distinct, yet common, type of β-thalassemia, in which the patient co-inherits a β-thalassemia allele from one parent, and a structural variant, Hb E, from the other parent. This co-inheritance leads to remarkable clinical heterogeneity, varying degrees of chronic anemia, and a wide spectrum of complications due to ineffective erythropoiesis and iron overload. Hydroxyurea (HU), an oral chemotherapeutic drug, is expected to decrease disease severity. To assess the clinical efficacy and safety of HU in Hb E/β-thalassemia patients. We searched MEDLINE, EMBASE, Cochrane databases, and major preceding conferences for studies that assessed HU in Hb E/β-thalassemias patients. The effect size was estimated as a proportion (responder/sample size). Qualities of eligible studies were assessed using NIH tools. A total of five [one randomized clinical trial (RCT) and four observational] studies involving 106 patients were included. HU was associated with a significant RR of 46% with no statistical heterogeneity. No serious adverse effects were reported. Patients with Hb E/β-thalassemia may benefit from a trial of HU, though large RCTs assessing efficacy should be conducted to confirm the findings of this meta-analysis and to assess long-term toxicity and response sustainability.

  18. α-Thalassemia frequency and mutations in children with hypochromic microcytic anemias and relation with β-thalassemia, iron deficiency anemia.

    Science.gov (United States)

    Gulen, Huseyin; Hanimeli, Ozlem; Karaca, Ozlem; Taneli, Fatma

    2012-04-01

    The majority of the anemias during childhood are hypochromic and microcytic. The aim of the present study was to determine the status of α-thalassemia mutations and its association with other etiologies, such as iron deficiency anemia (IDA) and β-thalassemia trait, that are frequently seen hypochromic microcytic anemias in children. Children with hypochromic microcytic anemias were included in the study. Serum iron (SI), total iron-binding capacity (TIBC), ferritin levels, and hemoglobin electrophoresis with high-performance liquid chromatography (HPLC) method were analyzed. Reverse hybridization of biotinylated polymerase chain reaction (PCR) product method was used for detection of α-globin gene mutations. Of the 46 patients involved in the study, 54.3% (n = 25) were boys, and 45.7% (n = 21) were girls. Iron deficiency anemia and β-thalassemia trait were diagnosed in 67.4% (n = 31) and 19.5% (n = 9), respectively. In 17.4% there were α-thalassemia mutations (in 10.9% 3.7 single-gene heterozygote mutation, in 4.3% 20.5-kb double-gene deletion mutation, and in 2.2% α-2 poly-A-1 heterozygote mutation was detected). In 2 patients (4.3%) no etiology was determined. In 2 patients (4.3%) association between iron deficiency anemia and α-thalassemia, in 1 patient (2.2%) association between β and α-thalassemia was detected. In conclusion, α-thalassemia carrier status and its association with other etiologies are frequently seen in Manisa. So, α-thalassemia should be considered in the differential diagnosis of hypochromic microcytic anemias, especially in cases without iron deficiency (ID) and β-thalassemia carrier state.

  19. Detection of glycemic abnormalities in adolescents with beta thalassemia using continuous glucose monitoring and oral glucose tolerance in adolescents and young adults with β-thalassemia major: Pilot study

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    Ashraf T Soliman

    2013-01-01

    Full Text Available Background: Both insulin deficiency and resistance are reported in patients with β-thalassemia major (BTM. The use of continuous blood glucose monitoring (CGM, among the different methods for early detection of glycemic abnormalities, has not been studied thoroughly in these adolescents. Materials and Methods: To assess the oralglucose tolerance (OGT and 72-h continuous glucose concentration by the continuous glucose monitoring system (CGMS and calculate homeostatic model assessment (HOMA, and the quantitative insulin sensitivity check index (QUICKI was conducted in 16 adolescents with BTM who were receiving regular blood transfusions every 2-4 weeks and iron-chelation therapy since early childhood. Results: Sixteen adolescents with BTM (age: 19.75 ± 3 years were investigated. Using OGTT, (25% had impaired fasting blood (plasma glucose concentration (BG (>5.6 mmol/L. 2-h after the glucose load, one of them had BG = 16.2 mmol/L (diabetic and two had impaired glucose tolerance (IGT (BG > 7.8 and 11.1 mmol/L and 9 with IGT (56%. HOMA and QUICKI revealed levels 0.33 (0.36 ± 0.03, respectively, ruling out significant insulin resistance in these adolescents. There was a significant negative correlation between the β-cell function (B% on one hand and the fasting and the 2-h BG (r=−0.6, and − 0.48, P < 0.01, respectively on the other hand. Neither fasting serum insulin nor c-peptide concentrations were correlated with fasting BG or ferritin levels. The average and maximum blood glucose levels during CGM were significantly correlated with the fasting BG (r = 0.68 and 0.39, respectively, with P < 0.01 and with the BG at 2-hour after oral glucose intake (r = 0.87 and 0.86 respectively, with P < 0.001. Ferritin concentrations were correlated with the fasting BG and the 2-h blood glucose levels in the OGTT (r = 0.52, and r = 0.43, respectively, P < 0.01 as well as with the average BG recorded by CGM (r = 0.75, P < 0.01. Conclusion: CGM has proven to

  20. Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients.

    Science.gov (United States)

    Al-Nafie, Awatif N; Borgio, J Francis; AbdulAzeez, Sayed; Al-Suliman, Ahmed M; Qaw, Fuad S; Naserullah, Zaki A; Al-Jarrash, Sana; Al-Madan, Mohammed S; Al-Ali, Rudaynah A; AlKhalifah, Mohammed A; Al-Muhanna, Fahad; Steinberg, Martin H; Al-Ali, Amein K

    2015-06-01

    α-Thalassemia X-linked mental retardation syndrome is a rare inherited intellectual disability disorder due to mutations in the ATRX gene. In our previous study of the prevalence of β-thalassemia mutations in the Eastern Province of Saudi Arabia, we confirmed the widespread coinheritance of α-thalassemia mutation. Some of these subjects have a family history of mental retardation, the cause of which is unknown. Therefore, we investigated the presence or absence of mutations in the ATRX gene in these patients. Three exons of the ATRX gene and their flanking regions were directly sequenced. Only four female transfusion dependent β-thalassemia patients were found to be carriers of a novel mutation in the ATRX gene. Two of the ATRX gene mutations, c.623delA and c.848T>C were present in patients homozygous for IVS I-5(G→C) and homozygous for Cd39(C → T) β-thalassemia mutation, respectively. While the other two that were located in the intronic region (flanking regions), were present in patients homozygous for Cd39(C → T) β-thalassemia mutation. The two subjects with the mutations in the coding region had family members with mental retardation, which suggests that the novel frame shift mutation and the missense mutation at coding region of ATRX gene are involved in ATRX syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Long-term L-Carnitine Administration reduces Erythropoietin Resistance in Chronic Hemodialysis Patients with Thalassemia Minor

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    Biagio R. Di Iorio

    2007-01-01

    Full Text Available Background and Aim: Both thalassemia and carnitine deficiency represent independent causes of erythropoietin resistance, and thus anemia, in uremic patients. We evaluated the unknown long-term effects of L-carnitine administration in β-thalassemic on chronic hemodialysis.Methods: We studied twelve subjects (M = 8; F = 4 affected by β-thalassemia minor (β-thal; HbA2 level = 6.6 ± 0.6% and forty non-thalassemic subjects (M = 24; F = 16 as controls (C, on chronic hemodialysis treatment. Patients and controls were at target hemoglobin levels (11–12g/dl prior to the study and underwent to i.v. L-carnitine administration for a one year period-time.Results: Groups were comparable for age, gender, serum levels of hemoglobin (Hb, iron, ferritine, PTH and aluminum, transferrin saturation, and dialysis modalities. During the study both groups showed signifi cant Hb increase and erythropoietin (EPO decrease; as a difference, such changes emerged at the 3rd month in C but at the 8th month in β-thal. At start, during the dialysis session the erythrocyte MCV reduced in C but not in β-thal (65.3 ± 3.2 to 65.5 ± 3.2 fl ; NS; along carnitine administration period, however, MCV during dialysis decreased also in β-thal, starting since the 9th month of treatment.Conclusion: This study provides evidence of the lowering of EPO resistance in β-thalassemia patients on hemodialysis due to long-term carnitine administration. Thus, prolonged carnitine supplementation should be suggested to patients on dialysis affected by β-thalassemia with poorly responsive anemia, or requiring large doses of erythropoietin.

  2. Long-term L-Carnitine Administration reduces Erythropoietin Resistance in Chronic Hemodialysis Patients with Thalassemia Minor

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    Biagio R. Di Iorio

    2007-01-01

    Full Text Available Background and Aim Both thalassemia and carnitine deficiency represent independent causes of erythropoietin resistance, and thus anemia, in uremic patients. We evaluated the unknown long-term effects of L-carnitine administration in β-thalassemic on chronic hemodialysis. Methods We studied twelve subjects (M = 8; F = 4 affected by β-thalassemia minor (β-thal; HbA2 level = 6.6 ± 0.6% and forty non-thalassemic subjects (M = 24; F = 16 as controls (C, on chronic hemodialysis treatment. Patients and controls were at target hemoglobin levels (11–12g/dl prior to the study and underwent to i.v. L-carnitine administration for a one year period-time. Results Groups were comparable for age, gender, serum levels of hemoglobin (Hb, iron, ferritine, PTH and aluminum, transferrin saturation, and dialysis modalities. During the study both groups showed significant Hb increase and erythropoietin (EPO decrease; as a difference, such changes emerged at the 3rd month in C but at the 8th month in β-thal. At start, during the dialysis session the erythrocyte MCV reduced in C but not in β-thal (65.3 ± 3.2 to 65.5 ± 3.2 fl; NS; along carnitine administration period, however, MCV during dialysis decreased also in β-thal, starting since the 9th month of treatment. Conclusion This study provides evidence of the lowering of EPO resistance in β-thalassemia patients on hemodialysis due to long-term carnitine administration. Thus, prolonged carnitine supplementation should be suggested to patients on dialysis affected by β-thalassemia with poorly responsive anemia, or requiring large doses of erythropoietin.

  3. Myocardial iron overload assessed by magnetic resonance imaging (MRI)T2* in multi-transfused patients with thalassemia and acquired anemias.

    Science.gov (United States)

    Fragasso, Alberto; Ciancio, Angela; Mannarella, Clara; Gaudiano, Carlo; Scarciolla, Oronzo; Ottonello, Carlo; Francone, Marco; Nardella, Michele; Peluso, Angelo; Melpignano, Angela; Veglio, Maria Rosaria; Quarta, Giovanni; Turchetti, Cristiano

    2011-02-01

    Cardiac complications secondary to iron overload remain a significant matter in patients with transfusion dependent anemias. To evaluate cardiac siderosis, Magnetic resonance imaging T2* (MRI T2*) was performed in 3 cohorts of transfusion dependent patients: 99 with thalassemia major (TM), 20 with thalassemia intermedia (TI), and 10 with acquired anemias (AA). Serum ferritin was measured and all patients underwent echocardiographic evaluation. In TM patients cardiac T2* pathologic values (below 20 ms) were found in 37 patients. Serum ferritin was negatively associated with age (r=-0.32, p=0.001) and weakly with T2* values (r=-0.19, p=0.057). A positive correlation was found between T2* and LVEF (r=0.27, p=0.006). Out of 37 patients with T2*<20 ms, 18 (48%) had serum ferritin values<1000 ng/ml. In TI cohort, 3 patients had cardiac T2* pathologic values. In AA cohort, pathologic T2* values were found in 2 patients, who received 234 and 199 PRBC units, respectively, and were both on chelation therapy (in one patient ferritin value was 399 ng/ml). T2* values were negatively associated, but not significantly, with the number of PRBC transfused (r=-0.53, p=0.07). In our experience, 37% of TM patients had a myocardial iron overload assessed by MRI T2*; this value is higher than in TI patients. Serum ferritin measurement was a poor predictor of myocardial siderosis. In patients with AA, more than 200 PRBC units transfused were required to induce cardiac hemosiderosis, in spite of chelation therapy and, in one patient, of normal ferritin values. Copyright © 2010 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

  4. Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach

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    Shah PS

    2017-05-01

    Full Text Available Parth S Shah,1 Nidhi D Shah,2 Hari Shankar P Ray,3 Nikunj B Khatri,3 Ketan K Vaghasia,3 Rutvik J Raval,4 Sandip C Shah,3 Mandava V Rao5 1Department of Medicine, Lahey Hospital and Medical Center, Boston, MA, 2Department of Pediatrics, Nassau University Medical Centre, New York, NY, USA; 3Supratech Micropath Laboratory and Research Institute, 4Department of Zoology, 5School of Sciences, Gujarat University, Ahmedabad, Gujarat, India Background: β-Thalassemia is the most prevalent genetic disorder in India. Its traits and coinheritance vary from mild to severe conditions, resulting in thalassemia minor, intermediate, and major, depending upon many factors.Purpose: The objective of this study was to identify the incidence of β-thalassemia traits, their coinheritance, and mutations, as well as to support the patients already diagnosed with β-thalassemia in East-Western Indian population for better management.Patients and methods: Seventy-five referral cases for β-thalassemia were analyzed for various β-thalassemia traits, heterozygosity, and homozygosity conditions. Blood phenotypic parameters using cell counter and capillary electrophoresis were investigated. Analyses of eight common mutations of thalassemia in India were carried out using polymerase chain reaction-amplification refractory mutation system, end point polymerase chain reaction, and DNA sequencing methods.Results: Of these (75 referral cases from East-Western Indian region, 68 were positive for β-thalassemia (90.67%. The majority of case types were of β-thalassemia minor (49, 65.33%, followed by HbE traits (6, 8.0% and β-thalassemia major, including heterozygous and homozygous (5, 6.66%; 4, 5.33% types and then HbE homozygous (2, 2.66%, as well as one each of the HbE/β-thalassemia and HbD/β-thalassemia (1, 1.34% combination. Mutation analysis also revealed that the highest frequency of mutation was c.92+5G>C (41, 60.29% followed by deletion 619bp (9, 13.23% and c.79G>A (8, 11

  5. [Advances in Pathogenesis and Related Clinical Research of Thromboembolism in Patients with Thalassemia after Splenectomy].

    Science.gov (United States)

    Sun, Na; Cheng, Peng; Deng, Dong-Hong

    2016-06-01

    Thalassemia is the most common human hereditary hemolytic anemia. Due to splenomegaly and hypersp-lenism, splenectomy can be used as a means of treatment for thalassemia. Various complications following splenectomy, however, especially thromboembolic complications are remarkable. This review summarizes the incidence, clinical manifestations and development time of thromboembolism. The pathogenesis of thromboembolism after splenectomy in thalassemia, such as abnormal platelet number and function, changes in red cell membrane, endothelial cell damage, dysfunction of other procoagulant and anticoagulant factors, and local factors associated with splenectomy are elaborated and the trategies to prevent and treat the thromboembolic events in thalassemia after splenectomy, including the attention to risk factors associated with splenectomy, a reassessment of splenectomy, regular blood transfusion to reduce the ratio of abnormal red blood cells, treatment with anticoagulant and antiplatelet drugs, application of hydroxyurea and stem cell transplantation are discussed.

  6. Pembentukan Resiliensi (Resilient Formation) Pada Penderita Thalassemia

    OpenAIRE

    Kurniawan, Yudi

    2011-01-01

    Thalassemia is a genetic disorder within hemoglobin formation that cause its patients were given blood transfusion along their life, it make thalassemia patients having difficulties for doing activity and self-actualization. Thalassemia patient in Indonesia increase rapidly within ten years lately (TEMPO magazine January 17th 2010 edition). This research have been used qualitative method with case study design, it is aimed for exploring resilient formation and resilient determinant within th...

  7. Serum Ferritin in Thalassemia Intermedia

    National Research Council Canada - National Science Library

    Shah, Ravi; Trehan, Amita; Das, Reena; Marwaha, R K

    2014-01-01

    .... In resource poor settings access to modalities for assessment of iron overload are limited. This study was undertaken to assess the efficiency and usefulness of serum ferritin level in thalassemia intermedia (TI) patients...

  8. Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil

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    Zama Messala Luna da Silveira

    2011-01-01

    Full Text Available 35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (β0IVS-I-1, β+IVS-I-6, and β039. In the patients who showed none of these mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9% had the β+IVS-I-6 mutation, 15 (48.4% the β0IVS-I-1 mutation, 2 (6.5% the β+IVS-I-110 mutation and 1 (3.2% the β+IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine beta-thalassemia in the state of Rio Grande do Norte.

  9. Major risk of blood transfusion in hemolytic anemia patients.

    Science.gov (United States)

    Omar, Nagla; Salama, Khaled; Adolf, Sonya; El-Saeed, Gamila S M; Abdel Ghaffar, Nagwa; Ezzat, Nivin

    2011-06-01

    Thalassemia is a congenital hemolytic disease caused by defective globin synthesis treated by blood transfusion. Transfusion-transmitted infections still make a great challenge in the management of patients with thalassemia major. The most important worldwide transfusion-transmitted infections are hepatitis B virus (HBV), hepatitis C virus (HCV) and HIV. The objective of this study is to update the prevalence of the three major transfusion-transmitted infections HCV, HBV and HIV among thalassemic patients followed up in the Hematology Department, Children Hospital, Cairo University. The study included 174 multitransfused thalassemic patients (162 major and 12 intermedia), registered at the Pediatric Hematology Clinic, Cairo University. Their age ranged from 2 to 27 years with a mean of 11.26 ± 5.4 years. Patients were subjected to full history taking, stressing on history of blood transfusions (onset, frequency and duration) at a single or multiple centers and abdominal examination. Laboratory investigations including complete blood count, aminotransferases (aspartate aminotransferase and alanine aminotransferase), ferritin and viral markers of HBV surface antigen (HBsAg), HCV antibodies (anti-HCV) and anti-HIV were assayed for all cases by a third-generation ELISA method. HCV PCR was performed for 75 cases. Of the 174 patients, none of them were HBsAg and anti-HIV positive. However, 90 patients were anti-HCV positive (51.7%). HCV PCR was positive in 56 patients (74.3%) of the 75 with positive antibody tested. HCV antibody positivity is statistically significant with age of the patient, serum ferritin and liver transaminases (P age and serum ferritin (P attention and efforts to challenge. There is a dramatic decrease in the prevalence of HBV infection over the last decade, thanks to mass compulsory vaccination and blood screening. HIV infection does not represent a problem owing to very low population prevalence.

  10. Reducing the iron burden and improving survival in transfusion-dependent thalassemia patients: current perspectives

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    Bayanzay K

    2016-08-01

    Full Text Available Karim Bayanzay, Lama Alzoebie Department of Hematology, Gulf Medical University, Ajman, United Arab Emirates Abstract: Hypertransfusion regimens for thalassemic patients revolutionized the management of severe thalassemia; transforming a disease which previously led to early infant death into a chronic condition. The devastating effect of the accrued iron from chronic blood transfusions necessitates a more finely tuned approach to limit the complications of the disease, as well as its treatment. A comprehensive approach including carefully tailored transfusion protocol, continuous monitoring and assessment of total body iron levels, and iron chelation are currently the mainstay in treating iron overload. There are also indications for ancillary treatments, such as splenectomy and fetal hemoglobin induction. The main cause of death in iron overload continues to be related to cardiac complications. However, since the widespread use of iron chelation started in the 1970s, there has been a general improvement in survival in these patients. Keywords: hematology, chelators, deferoxamine, deferiserox, deferiprone, liver iron concentration, iron overload, serum ferritin concentration, hepatic iron storage, iron chelation therapy

  11. Molecular Spectrum of Beta-Globin Mutations in Transfusion-Dependent Patients with Thalassemia in Qazvin Province, Iran

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    Mohammad Reza Sarookhani

    2009-03-01

    Full Text Available Background: Beta thalassemia is a common inherited disease,resulting from one or more of 200 different mutations in the betaglobingene. Qazvin province has attracted migrations of severaldifferent populations due to industrialization during the past fivedecades. The aim of this study was to define the molecular spectrumofbeta-thalassemia mutations in Qazvin province.Methods: Ethylen diamin acetic acid-containing venous bloodsamples were collected from 100 patients with transfusiondependentbeta-thalassemia from the department of Pediatricsin Qods hospital. Age, sex, history, and consanguinity betweenthe parents were recorded by reviewing the patients’files. DNA was isolated from leukocytes using the standardprocedure. Amplification refractory mutation system (ARMStechnique was used for molecular detection of mutations. Directsequencing analysis was applied for DNA samples whenno mutation was detected with ARMS.Results: Of the 200 chromosomes investigated, 11 types of mutationswere identified by ARMS technique while direct sequencingrevealed the remaining alleles (9 types of mutations.Total 20 different mutations discovered by this two-step approach.Abundant alleles (IVS II-1, IVS I-10, FSC 8/9 accountedfor 59.3% of the mutations. IVS II-1 with a frequencyof 31.3 % was the most common while HbS, Cd 74/75 and Cd15, each with a frequency of 0.55%, had the least frequencies.Conclusion: Beta thalassemia mutations are very heterogeneousin Qazvin province. Extensive ethnic and genetic admixture hasresulted in unexpectedly high number of different mutations,most of them similar to that of north and north-western provincesof Iran. Different mutations in this region suggest migration ofchromosomes fromdistant places and genetic admixture.

  12. β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a novel β(0)-thalassemia frameshift mutation: HBB: c.209delG; p.Gly70Valfs*20.

    Science.gov (United States)

    Kluge, Michelle L; Hoyer, James D; Swanson, Kenneth C; Oliveira, Jennifer L

    2014-01-01

    A novel β(0)-thalassemia (β-thal) frameshift mutation, HBB: c.209delG; p.Gly70Valfs*20, is described in a 21-year-old African American female with β-thalassemia major (β-TM) due to compound heterozygosity for the β(0)-thal mutation HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and HBB: c.209delG. The combination of these mutations demonstrates a complete lack of β-globin chain synthesis, evidenced by the proband having no Hb A present.

  13. Pulmonary hypertension in beta-thalassemia.

    Science.gov (United States)

    Aessopos, Athanasios; Farmakis, Dimitrios

    2005-01-01

    Cardiac involvement represents the leading cause of mortality in both forms of beta-thalassemia, namely, thalassemia major (TM) and thalassemia intermedia (TI), and pulmonary hypertension (PHT) is part of the cardiopulmonary complications of the disease. PHT was initially documented in a small group of TI patients with right heart failure. In a subsequent study of a large 110-patient series, aged 32.5 +/- 11.4 years, age-related PHT was encountered in nearly 60% of cases, having caused right heart failure in six of them; interestingly, all patients had preserved left ventricular systolic function. Conflicted evidence, however, existed with respect to the development of PHT in heterogeneously treated and young TM populations. To resolve this discrepancy, a recent study compared cardiac disease between two large aged-matched groups of TM (n = 131) and TI (n = 74) patients, both treated uniformly in the currently accepted manner (regular transfusion and chelation therapy in TM, absence of any particular treatment in TI); well-treated TM patients, in contrast to TI patients, did not develop PHT, while systolic left ventricular dysfunction was present only in TM cases. PHT in beta-thalassemia results from a rather complex pathophysiology, in which chronic tissue hypoxia seems to hold a key role. Although both forms of the disease share a common molecular background, the diverse severity of the genetic defect and of the resulting clinical phenotype require a different therapeutic approach. Regular lifelong therapy in TM patients eliminates chronic hypoxia, thereby preventing PHT, whereas the absence of systematic treatment in TI leads to a cascade of reactions that compensate for chronic anemia, but at the same time allow the development of PHT.

  14. Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach

    Science.gov (United States)

    Shah, Parth S; Shah, Nidhi D; Ray, Hari Shankar P; Khatri, Nikunj B; Vaghasia, Ketan K; Raval, Rutvik J; Shah, Sandip C; Rao, Mandava V

    2017-01-01

    Background β-Thalassemia is the most prevalent genetic disorder in India. Its traits and coinheritance vary from mild to severe conditions, resulting in thalassemia minor, intermediate, and major, depending upon many factors. Purpose The objective of this study was to identify the incidence of β-thalassemia traits, their coinheritance, and mutations, as well as to support the patients already diagnosed with β-thalassemia in East-Western Indian population for better management. Patients and methods Seventy-five referral cases for β-thalassemia were analyzed for various β-thalassemia traits, heterozygosity, and homozygosity conditions. Blood phenotypic parameters using cell counter and capillary electrophoresis were investigated. Analyses of eight common mutations of thalassemia in India were carried out using polymerase chain reaction-amplification refractory mutation system, end point polymerase chain reaction, and DNA sequencing methods. Results Of these (75) referral cases from East-Western Indian region, 68 were positive for β-thalassemia (90.67%). The majority of case types were of β-thalassemia minor (49, 65.33%), followed by HbE traits (6, 8.0%) and β-thalassemia major, including heterozygous and homozygous (5, 6.66%; 4, 5.33%) types and then HbE homozygous (2, 2.66%), as well as one each of the HbE/β-thalassemia and HbD/β-thalassemia (1, 1.34%) combination. Mutation analysis also revealed that the highest frequency of mutation was c.92+5G>C (41, 60.29%) followed by deletion 619bp (9, 13.23%) and c.79G>A (8, 11.76%) in our study group. Five cases (nos. 24, 27, 33, 58, and 71) exhibited coinheritance between β0/β+ (2), β0/β D (1), and c.124_127delTTCT/β+ or β0(2) affecting the Rajasthani and Gujarati populations in our study of the Western region of India. Conclusion We strongly recommend these Western populations for genetic screening before adopting reproductive technologies and interracial marital relations. PMID:28546763

  15. Efficacy of erythropoietin on dialysis in patients with beta thalassemia minor.

    Science.gov (United States)

    Di Iorio, Biagio; De Nicola, Luca; Bellizzi, Vincenzo; Minutolo, Roberto; Zamboli, Pasquale; Rubino, Roberto; Fuiano, Giorgio; Conte, Giuseppe

    2004-01-01

    It is unknown whether chronic erythropoietin (EPO) treatment is able to normalize hemoglobin (Hb) levels and ameliorate cardiac remodeling avoiding blood transfusions in uremic blood transfusion-dependent patients with beta-thalassemia minor (beta-thal). In 12 hemodialysis (HD) patients with beta-thal, requiring blood transfusions despite EPO therapy, we planned to increase Hb levels up to the target levels (11-12 g/dl) within a one-year period by administering progressively higher doses of EPO (correction phase). We also planned to maintain the Hb target for an additional year (maintenance phase). In the year before the study, patients required 3.3 +/- 0.9 units of packed red blood cells. At baseline, the Hb level obtained with an EPO dose of 212 +/- 73 U/kg/week i.v. was 8.2 +/- 0.8 g/dl. The EPO dose was gradually increased within the first year up to 458 +/- 78 U/kg/week at month 12 (correction phase) and then significantly tapered down during the maintenance phase (390 +/- 54 U/kg/week at month 24). During the correction phase, the Hb levels markedly increased (11.1 +/- 0.3 g/dl at month 12) and did not change in the maintenance phase. No blood transfusion was required throughout the 2 years of follow-up. Left ventricular (LV) mass index progressively decreased from the basal value of 144 +/- 12 to 124 +/- 11 g/m2 in the first year and normalized in all patients at month 24 (109 +/- 12 g/m2, p beta-thal, the administration of high EPO dose for 2 years permits the attainment and the maintenance of Hb targets without blood transfusions. This therapeutic approach permits a complete remission of concentric LV hypertrophy without any adverse effects on the vascular system.

  16. Hypertriglyceridemia Thalassemia Syndrome: Common Disease, Uncommon Association.

    Science.gov (United States)

    Das, Lipsa; Samprathi, Madhusudan; Shukla, Umesh; Bandyopadhyay, Debapriya; Das, Rashmi Ranjan

    2016-07-01

    Hypertriglyceridemia has been rarely described with thalassemia, an entity called hypertriglyceridemia-thalassemia syndrome. The authors describe a young infant diagnosed with thalassemia major with severe hypertriglyceridemia. The presence of severe hypertriglyceridemia in this child which rapidly resolved after transfusion, probably suggests a self limited mechanism which may not require therapy. Though hypertriglyceridemia has been reported with hemolytic anemias, the mechanism is unclear. This case illustrates that thalassemia may be associated with hypertriglyceridemia; once familial and secondary causes are ruled out, clinicians may wait for spontaneous resolution before considering specific therapy.

  17. Hydroxyurea appears beneficial in patients with beta-thalassaemia major and intermedia

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    S. F.S.A. Abdul Wahid

    2007-06-01

    Full Text Available Patients with severe inherited β-globin chain disorders may have milder illness if they produce high levels of fetal hemoglobin (HbF. Hydroxyurea (HU has been shown to enhance HbF levels in patients with sickle cell disease and may be useful in β-thalassemias. We administered HU to 13 patients with β-thalassemia intermedia or major, including 6 splenectomized patients. The patients received escalating doses (10 to 25 mg/kg/d of HU for around 2 years (median: 21 months, range: 8 - 55 months. Eleven patients responded with an increase in the pre-transfusion HbF levels, from a base line median of 8.0% (2.5 - 61.3% to 28.0% (6.6 - 49.2% and 40.7% (4.8 - 72.3% at 3 months and 18 months post-HU, respectively. A concomitant increment in median hemoglobin levels was noted at 1, 3 and 18 months of HU therapy. Six of 7 transfusion-dependent patients who had an increment of HbF (one with β-thalassemia major also had reduced transfusion requirement over the 2-year period of HU therapy. Response to HU was also shown by a reduction in spleen size. Apart from oral ulcers that resolved upon dose reduction of HU, no significant toxicity was noted. We conclude that increased HbF production in β-thalassemia patients, with an improvement in erythropoiesis, can be achieved using HU with minimal toxicity. (Med J Indones 2007; 16:78-83 Keywords: fetal hemoglobin (HbF, erythropoiesis, toxicity

  18. The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran.

    Science.gov (United States)

    Jalilian, Masoumeh; Azizi Jalilian, Farid; Ahmadi, Leila; Amini, Razieh; Esfehani, Hossein; Sosanian, Maryam; Rabbani, Bahareh; Maleki, Majid; Mahdieh, Nejat

    2017-01-01

    β-Thalassemia (β-thal) caused by mutations on the HBB gene is the most common single-gene disorder in the world. In this study, the HBB gene mutation was investigated in Hamadan province, Iran. Forty-one patients referred to a referral hospital were admitted to the study. DNA samples were extracted from peripheral blood. The HBB gene was sequenced in all recruited patients. Eleven mutations and eight polymorphisms were found in the studied patients. IVS-II-1 (G>A) (HBB: c.315+1 G>A) was the most common mutation, accounting for 25.61% of mutant alleles. Other mutations included codon 8 (-AA) (HBB: c.25-26delAA); IVS-I-110 (G>A) (HBB: c.93-21 G>A); codons 8/9 (+G) (HBB: c.27-28insG); IVS-I-1 (G>A) (HBB: c.92 G>A); codon 44 (-C) (HBB: c.135delC); codons 25/26 (+T) (HBB: c.78-79insT); IVS-I-130 (G>C) (HBB: c.93-1 G>C); -28 (A>C) (HBB: c.-78 A>C); codons 36/37 (-T) (HBB: c.112delT) and IVS-I-6 (T>C) (HBB: c.92+6 T>C). According to our findings, the IVS-II-1 mutation has the highest prevalence in Hamadan Province. It was found that the total frequency of the IVS-II-1, codons 25/26 (+T), codons 8/9 (+G), IVS-I-110 and IVS-I-1 mutations was 82.92%. Therefore, given these findings, it is recommended that these five mutations are screened for as a first step in laboratories without sequencing instruments, and that the rest of the gene is subsequently examined.

  19. Gallstones and Choledocolithiasis with Severe Cholestatic Jaundice in Beta-Thalasemia Intermedia Patient

    OpenAIRE

    Cahyono, Suharjo B; Bayupurnama, Putut; Ratnasari, Neneng; Nurdjanah, Siti

    2014-01-01

    Geographically, b-thalassemia can be found in many countries including in Indonesia. Thalassemia intermedia referred to patients as being ‘too haematologically severe to be called minor, but too mild to be called major'. Patients with thalassemia intermedia usually present themselves to medical attention in later childhood or even adulthood and are sustainable without the need for regular transfusion therapy. Three main factors are responsible for the clinical sequele of thalassemia intermedi...

  20. Glutathione S transferase polymorphisms influence on iron overload in β-thalassemia patients

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    Serena Sclafani

    2013-11-01

    Full Text Available In patients with β-thalassemia iron overload that leads to damage to vital organs is observed. Glutathione S transferase (GST enzymes have an antioxidant role in detoxification processes of toxic substances. This role is determined genetically. In this study, we correlated GSTT1 and GSTM1 genotypes with iron overload measured with direct and indirect non-invasive methods; in particular, we used serum ferritin and signal intensity of the magnetic resonance image (MRI in 42 patients with β-thalassemia, which were regularly subjected to chelation and transfusion therapy. Multiplex polymerase chain reaction was used to determine the genotype. The loss of both alleles leads to a decreased value of liver and heart MRI-signal intensity with a consequent iron accumulation in these organs; the loss of only one allele doesn’t lead to relevant overload. Serum ferritin doesn’t appear to be correlated to iron overload instead. 对于β-地中海贫血患者,由于铁过量而造成重要器官受损的情况也在观察之中。谷胱甘肽S转移酶(GST 酶类在对有毒物质进行解毒的过程中有着抗氧化剂的作用。该作用是由基因决定的。 在这份研究中,我们运用了直接和间接非侵入性的方法对基因型铁过量GSTT1 和GSTM1进行了相关性测量;特别地,我们对42位定期接受螯合和输血治疗的β-地中海贫血患者进行了血清铁蛋白和磁共振强度图像(MRI 的测试。 多重聚合酶链反应的测试也被运用来确定该基因型。 该两种等位基因的缺失,导致了肝功能减损及心脏磁共振强度的下降,并造成了在这些器官中铁含量的积累;其中一种等位基因的缺失并不会导致过度的铁含量。血清蛋白和铁过量之间,看起来并不存在相关性。

  1. Thalassemia intermedia: An overview | Shawky | Egyptian Journal of ...

    African Journals Online (AJOL)

    β-Thalassemia is considered the most common chronic hemolytic anemia in Egypt. Patients with β-thalassemia whose anemia is not so severe as to necessitate regular transfusions are said to have thalassemia intermedia. It is characterized by a significant genetic and clinical heterogeneity. The clinical phenotype ranges ...

  2. Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients

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    Cyril Cyrus

    2017-01-01

    Full Text Available Background and Objectives. β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively. The elevation of fetal hemoglobin (HbF can ameliorate the severity of these disorders. In sickle cell disease patients, the HbF level elevation is associated with three quantitative trait loci (QTLs, BCL11A, HBG2 promoter, and HBS1L-MYB intergenic region. This study elucidates the existence of the variants in these three QTLs to determine their association with HbF levels of transfusion-dependent Saudi β-thalassemia patients. Materials and Methods. A total of 174 transfusion-dependent β-thalassemia patients and 164 healthy controls from Eastern Province of Saudi Arabia were genotyped for fourteen single nucleotide polymorphisms (SNPs from the three QTL regions using TaqMan assay on real-time PCR. Results. Genotype analysis revealed that six alleles of HBS1L-MYB QTL (rs9376090C p=0.0009, rs9399137C p=0.008, rs4895441G p=0.004, rs9389269C p=0.008, rs9402686A p=0.008, and rs9494142C p=0.002 were predominantly associated with β-thalassemia. In addition, haplotype analysis revealed that haplotypes of HBS1L-MYB (GCCGCAC p=0.022 and HBG2 (GTT p=0.009 were also predominantly associated with β-thalassemia. Furthermore, the HBS1L-MYB region also exhibited association with the high HbF cohort. Conclusion. The stimulation of HbF gene expression may provide alternative therapies for the amelioration of the disease severity of β-thalassemia.

  3. Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients.

    Science.gov (United States)

    Cyrus, Cyril; Vatte, Chittibabu; Borgio, J Francis; Al-Rubaish, Abdullah; Chathoth, Shahanas; Nasserullah, Zaki A; Jarrash, Sana Al; Sulaiman, Ahmed; Qutub, Hatem; Alsaleem, Hassan; Alzahrani, Alhusain J; Steinberg, Martin H; Ali, Amein K Al

    2017-01-01

    Background and Objectives. β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively. The elevation of fetal hemoglobin (HbF) can ameliorate the severity of these disorders. In sickle cell disease patients, the HbF level elevation is associated with three quantitative trait loci (QTLs), BCL11A, HBG2 promoter, and HBS1L-MYB intergenic region. This study elucidates the existence of the variants in these three QTLs to determine their association with HbF levels of transfusion-dependent Saudi β-thalassemia patients. Materials and Methods. A total of 174 transfusion-dependent β-thalassemia patients and 164 healthy controls from Eastern Province of Saudi Arabia were genotyped for fourteen single nucleotide polymorphisms (SNPs) from the three QTL regions using TaqMan assay on real-time PCR. Results. Genotype analysis revealed that six alleles of HBS1L-MYB QTL (rs9376090C p = 0.0009, rs9399137C p = 0.008, rs4895441G p = 0.004, rs9389269C p = 0.008, rs9402686A p = 0.008, and rs9494142C p = 0.002) were predominantly associated with β-thalassemia. In addition, haplotype analysis revealed that haplotypes of HBS1L-MYB (GCCGCAC p = 0.022) and HBG2 (GTT p = 0.009) were also predominantly associated with β-thalassemia. Furthermore, the HBS1L-MYB region also exhibited association with the high HbF cohort. Conclusion. The stimulation of HbF gene expression may provide alternative therapies for the amelioration of the disease severity of β-thalassemia.

  4. Detection of cardiac iron overload with native magnetic resonance T1 and T2 mapping in patients with thalassemia.

    Science.gov (United States)

    Krittayaphong, Rungroj; Zhang, Shuo; Saiviroonporn, Pairash; Viprakasit, Vip; Tanapibunpon, Prajak; Komoltri, Chulaluk; Wangworatrakul, Wipaporn

    2017-12-01

    To investigate the diagnostic performance of native cardiac magnetic resonance (CMR) T1 and T2 mapping for cardiac iron overload (CIO) in thalassemia patients. All thalassemia patients who underwent CMR were enrolled on a clinical 1.5T scanner. Native T1 mapping with the Modified Look-Locker Inversion recovery (MOLLI) technique, T2 mapping using a black-blood multi-echo spin-echo technique, and conventional T2* mapping using multi-echo gradient-echo techniques were performed. CIO was defined by a T2* of T1 and T2 times were significant different among patients with no CIO, mild-to-moderate CIO, and severe CIO (1012.7±57.7 vs. 846.4±34.4 vs 601.3±34.6ms for T1, pT1 and T2, respectively. This yielded a sensitivity, specificity and area under the curve (AUC) of 100%, 98.4% and 0.997 respectively for T1, in comparison to 100%, 88.8% and 0.961 respectively for T2. Native T1 mapping can differentiate between severe, mild-to-moderate, and no CIO, which appears to be a promising technique for detection and assessment of myocardial iron. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. A presacral mass in a patient with thalassemia intermedia: A case report and review of the literature

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    Mohammad Hossein Anbardar

    2016-01-01

    Full Text Available Extramedullary hematopoiesis (EMH is defined as the production of the myeloid and erythroid elements outside the bone marrow. It is usually a compensatory mechanism of the myeloid and erythroid production due to increased breakdown or diminished production of erythrocytes. Presacral EMH is an extremely rare condition, and there is a limited number of case reports published in the literature. A 39-year-old female patient as a known case of thalassemia intermedia presented with lower abdominal pain. A computerized tomography scan showed a large presacral mass, associated with bone destruction. The patient was admitted for exploratory laparotomy with suspicion to malignant lesions, but the final pathological diagnosis was EMH. It should be considered in differential diagnosis of mass-like lesions in the presacral area in patients with predisposing factors such as thalassemia, although there were malignant features such as bone destruction in imaging studies. Preoperative diagnostic tools such as fine needle aspiration and biopsy could help us to render the definite diagnosis and prevent unnecessary operation.

  6. Patient Involvement as Experts in the Development and Assessment of a Smartphone App as a Patient Education Tool for the Management of Thalassemia and Iron Overload Syndromes.

    Science.gov (United States)

    Ward, Richard; Taha, Karim M

    2016-09-01

    Our aim was to develop and assess the feasibility of an education tool to improve health outcomes of patients with thalassemia. Thirty-five patients attending a Canadian thalassemia clinic were enrolled. Acting in an expert role, they participated in a Delphi method to reach consensus as to what tools and information should be incorporated in the development of a self management Smartphone app. One- and 6-month usability and health impact feedback surveys were built-in. Sixty percent of responders were 18-34 years old, over 50.0% had a college degree. The Delphi method successfully generated a comprehensive list of features important to patients. The app has been downloaded 147 times globally. Between March 2015 and January 2016, 19 responses for the 1-month survey were collected and the trends described. Responders reported improved medication adherence. The personal adherence pledge feature supports gamification of health apps to individualize goals of therapy. The impact of tracking iron levels was highly favorable. The Delphi method was an effective way to introduce a patient education and empowerment tool to the thalassemia population. The long-term impact requires data maturation. Use of validated methodology is essential to ensure ehealth interventions are positively contributing to patient education and disease outcomes.

  7. Determination of glucose metabolites in stored erythrocytes and in erythrocytes from patients with thalassemia by analytical isotachophoresis.

    Science.gov (United States)

    Kuçi, Zyrafete; Hins, Jürgen; Kuçi, Selim; Renner, Susanne; Flottmann, Dirk; Bruchelt, Gernot

    2006-11-30

    Glycolysis is for some cells, such as erythrocytes, neutrophil granulocytes and many cancer cells, the only or most important source of energy (ATP) production. Based on previous studies we developed an isotachophoretic (ITP) method which allows, in principle, the simultaneous determination of all metabolites of glycolysis. Since glucose metabolites are small anions, mobility of some of them may overlap in isotachophoresis and, therefore, partial mixed zones are generated. By variation of the leading/terminating system, however, it is possible to separate the compounds of interest. In this communication, we describe a method for analysis of glucose metabolites in erythrocytes from healthy donors during storage in blood bags, and from patients with thalassemia, with special respect to intracellular 2,3 bisphosphoglycerate, lactate and ATP/ADP. The well known characteristic changes of glycolysis in erythrocytes during blood storage and in erythrocytes from thalassemia patients, which are often analysed by separate enzymatic assays, could be confirmed with this isotachophoretic procedure. The method is currently adapted for analysis of glycolysis in neutrophil granulocytes and cancer cells which requires some modifications of sample preparation and performance of the isotachophoretic analysis.

  8. Molecular identification of Sicilian (dߺ-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil

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    Andrade T.G. de

    2002-01-01

    Full Text Available We describe the clinical and molecular characteristics of two unrelated Brazilian families with an association of the Sicilian form of (deltaߺ-thalassemia with hemoglobin S and ß-thalassemia. Direct sequencing of the ß-globin gene showed only the hemoglobin S mutation in patient 1 and the ß-thalassemia IVS1-110 in patient 2. The other allele was deleted in both patients and PCR of DNA samples of the breakpoint region of both patients showed a band of approximately 1,150 bp, expected to be observed in the DNA of carriers of Sicilian (deltaߺ-thalassemia. The nucleotide sequence of this fragment confirmed the Sicilian deletion. There are few reports concerning the Hb S/(deltaߺ-thalassemia association and patient 2 is the first reported case of Sicilian type of (deltaߺ-thalassemia in association with ß-thalassemia documented at the molecular level.

  9. Reassessing the approach to informed consent: the case of unrelated hematopoietic stem cell transplantation in adult thalassemia patients.

    Science.gov (United States)

    Pisu, Salvatore; Caocci, Giovanni; d'Aloja, Ernesto; Efficace, Fabio; Vacca, Adriana; Piras, Eugenia; Orofino, Maria Grazia; Addari, Carmen; Pintor, Michela; Demontis, Roberto; Demuru, Federica; Pittau, Maria Rita; Collins, Gary S; La Nasa, Giorgio

    2014-08-12

    The informed consent process is the legal embodiment of the fundamental right of the individual to make decisions affecting his or her health., and the patient's permission is a crucial form of respect of freedom and dignity, it becomes extremely important to enhance the patient's understanding and recall of the information given by the physician. This statement acquires additional weight when the medical treatment proposed can potentially be detrimental or even fatal. This is the case of thalassemia patients pertaining to class 3 of the Pesaro classification where Allogenic hematopoietic stem cell transplantation (HSCT) remains the only potentially curative treatment. Unfortunately, this kind of intervention is burdened by an elevated transplantation-related mortality risk (TRM: all deaths considered related to transplantation), equal to 30% according to published reports. In thalassemia, the role of the patient in the informed consent process leading up to HSCT has not been fully investigated. This study investigated the hypothesis that information provided by physicians in the medical scenario of HSCT is not fully understood by patients and that misunderstanding and communication biases may affect the clinical decision-making process. A questionnaire was either mailed or given personally to 25 patients. A second questionnaire was administered to the 12 physicians attending the patients enrolled in this study. Descriptive statistics were used to evaluate the communication factors. The results pointed out the difference between the risks communicated by physicians and the risks perceived by patients. Besides the study highlighted the mortality risk considered to be acceptable by patients and that considered to be acceptable by physicians. Several solutions have been suggested to reduce the gap between communicated and perceived data. A multi-disciplinary approach may possibly help to attenuate some aspects of communication bias. Several tools have also been

  10. β-Thalassemia in Abu Dhabi: consanguinity and tribal stratification are major factors explaining the high prevalence of the disease.

    Science.gov (United States)

    Denic, Srdjan; Aden, Bashir; Nagelkerke, Nico; Essa, Awad Al

    2013-01-01

    Tribalism and consanguineous marriages are common in parts of the world with a high prevalence of the β-thalassemia (β-thal) mutations, and increase the risks of homozygosity for this and other recessive disorders. We explored the frequency of β-thal genes and β-thal carriers in 5672 subjects screened before marriage, of whom 2262 were couples. The mean coefficient of inbreeding (F) in the population was estimated from self-reported relationships to prospective spouses in 383 subjects. Overall frequency of β-thal mutations and β-thal carriers in the population were 1.16 and 2.3%, respectively. Among the 14 largest tribes, β-thal carrier frequencies varied from 0 to 13.6%. The estimated F in the population was 0.022. The expected number of couples needed to be screened to detect one couple who were both β-thal carriers in the non inbreeding (F = 0) and inbreeding (F = 0.022) population was 1858 and 646, respectively. However, among 2262 couples, 10 were both β-thal carriers, i.e., 1 in 226 couples, significantly (p = 0.02) more than expected by taking only inbreeding into account. Although β-thal mutations are relatively rare, the burden of β-thal disease is increased eight-fold by tribalism and consanguinity.

  11. Liver Cirrhosis in a Patient with Sickle Cell Trait (Hb Sβ+ Thalassemia without Other Known Causes of Hepatic Disease

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    Luca Santi

    2009-09-01

    Full Text Available Liver involvement in patients with sickle cell anemia/trait includes a wide range of alterations, from mild liver function test abnormalities to cirrhosis and acute liver failure. Approximately 15–30% of patients with sickle cell anemia present cirrhosis at autopsy. The pathogenesis of cirrhosis is usually related to chronic hepatitis B or C infection or to iron overload resulting from the many transfusions received by these patients in their lifetime. Thus, cirrhosis has been described almost exclusively in patients with sickle cell anemia, while only mild liver abnormalities have been associated with the sickle cell trait. In the present case study, we describe a young Mediterranean man carrying a sickle cell trait (Hb Sβ+ thalassemia who developed liver cirrhosis being negative for hepatitis C and B viruses or for other causes of cirrhosis and not receiving chronic blood transfusions.

  12. The Prevalence of α-Thalassemia and Its Relation to Plasmodium falciparum Infection in Patients Presenting to Clinics in Two Distinct Ecological Zones in Ghana.

    Science.gov (United States)

    Ghartey-Kwansah, George; Boampong, Johnson N; Aboagye, Benjamin; Afoakwah, Richmond; Ameyaw, Elvis O; Quashie, Neils B

    2016-01-01

    Thalassemia and sickle cell disease constitute the most monogenic hemoglobin (Hb) disorders worldwide. Clinical symptoms of α(+)-thalassemia (α(+)-thal) are related to inadequate Hb production and accumulation of β- and/or γ-globin subunits. The association of thalassemia with malaria remains contentious, though from its distribution it appears to have offered some protection against the disease. Data on the prevalence of thalassemia in Ghana and its link with malaria is scanty and restricted. It was an objective of this cross-sectional study to determine the prevalence of thalassemia in areas representing two of Ghana's distinct ecological zones. The relationship between thalassemia and Plasmodium falciparium (P. falciparum) infection was also ascertained. Overall, 277 patients presenting to health facilities in the study areas were recruited to participate. Tests were carried out to determine the presence of α(+)-thal, sickle cell and malaria parasites in the blood samples of participants. The outcome of this study showed an α(+)-thal frequency of 19.9% for heterozygotes (-α/αα) and 6.8% for homozygotes (-α/-α). Plasmodium falciparum was detected in 17.7% of the overall study population and 14.9% in those with α(+)-thal. No association was observed between those with α(+)-thal and the study sites (p > 0.05). A test of the Hardy-Weinberg law yielded no significant difference (p < 0.001). Findings from this study suggest a modest distribution of α(+)-thal in Ghana with no bias to the ecological zones. Although the prevalence and parasite density were relatively low in those with the disorder, no association was found between them.

  13. Comparison of red cell distribution width and a red cell discriminant function incorporating volume dispersion for distinguishing iron deficiency from beta thalassemia trait in patients with microcytosis

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    Carmen Silvia Passos Lima

    Full Text Available The red cell distribution width (RDW, and another red cell discriminant function incorporating RDW (MCV² x RDW/Hgb x 100 were determined in a group of 30 patients with iron deficiency anemia, 30 patients with beta thalassemia trait, and 30 normal subjects. Both RDW and (MCV² x RDW/Hgb x 100 mean values were significantly higher in iron deficiency anemia than in beta thalassemia trait (p<0.001. Taking RDW equal or above 21.0 percent among microcytic anemia patients, we identified correctly 90.0 percent of patients with iron deficiency anemia. The sensitivity and specificity of the test were 90.0 percent (IC 95 percent: 0.75 - 0.96 and 77.0 percent (IC 95 percent: 0.60 - 0.88, respectively. RDW values below 21.0 percent identified correctly 77.0 percent of beta thalassemia trait with a sensitivity and a specificity of 77.0 percent (IC 95 percent: 0.60 - 0.88 and 90.0 percent (IC 95 percent: 0.75 - 0.96, respectively. Taking values of (MCV² x RDW/Hgb x 100 above and below 80.0 percent as indicative of iron deficiency and beta thalassemia trait, respectively, we identified correctly 97.0 percent of those patients in each group. Both sensitivity and specificity were 97.0 percent (IC 95 percent: 0.84 - 0.99. These results indicated that the red cell discriminant function incorporating volume dispersion (MCV² x RDW/Hgb x 100 is a highly sensitive and specific method in the initial screening of patients with microcytic anemia and is better than RDW in differentiating iron deficiency anemia from beta thalassemia trait.

  14. Hydroxyurea in thalassemia intermedia--a promising therapy.

    Science.gov (United States)

    Dixit, Ashish; Chatterjee, T C; Mishra, Pravas; Choudhry, Dharma R; Mahapatra, M; Tyagi, S; Kabra, Madhulika; Saxena, Renu; Choudhry, V P

    2005-07-01

    Pharmacological agents such as hydroxyurea (HU) have been known to cause induction of fetal hemoglobin and possibly may alleviate the symptoms in thalassemia intermedia patients. Thirty-seven patients with beta-thalassemia intermedia were enrolled to assess response to HU therapy. Major response was defined as transfusion independence or hemoglobin rise of more than 20 g/l and minor response as rise in hemoglobin of 10-20 g/l or reduction in transfusion frequency by 50%. The median age was 10 years (range: 4-50 years) and median follow-up was 12 months (range: 4-36 months). Twenty-six patients (70.2%) showed response to HU therapy. Seventeen patients (45.9%) were major responders, and nine patients (24.3%) showed minor response. There was no correlation of response with beta-thalassemia mutation or XmnI polymorphism; however, the presence of alpha(3.7) deletion was associated with major response in three patients. Mean fetal hemoglobin (HbF) levels rose on HU therapy. Older age, low baseline F cell percent, and low baseline HbF levels (below 10%) were predictors of poor response. Response was evident within 1 month of starting HU therapy in the majority of responders. Thus, a short trial of HU therapy can predict durable response.

  15. A Multi-locus Approach to Characterization of Major Quantitative Trait Loci Influencing Hb F Regulation in Chinese β-thalassemia Carriers.

    Science.gov (United States)

    Chan, Nelson C N; Lau, Kin-Mang; Cheng, Kelvin C K; Chan, Natalie P H; Ng, Margaret H L

    2016-11-01

    Genetic association studies showed that Hb F is under the influence of major quantitative trait loci (QTL) in β-thalassemia (β-thal) carriers. Single nucleotide polymorphisms (SNPs) at three major QTLs, BCL11A, HBS1L-MYB intergenic region and XmnI-HBG2 were individually validated in univariate models. However, their relative effect sizes on Hb F regulation are unknown. We genotyped 99 Chinese β-thal carriers for the three major QTLs and performed genetic association studies using three different statistical models, including mass univariate analysis, multivariate linear regression and partial least square regression structural equation modeling (PLS-SEM). Performances of the three models were compared and effect sizes of the three QTLs in a multivariate model were assessed. Traditional mass univariate analysis and multivariate linear regression showed limited statistical power in our small cohort and the latter was constrained by multicollinearity. Partial least structural equation modeling showed significant positive associations of each QTL (p Hb F regulation, together explained 34.4% of variance. The HBS1L-MYB intergenic region polymorphism (HMIP) demonstrated the highest effect on Hb F prediction with effect size f(2) 0.294. PLS-SEM offered a statistically powerful multivariate model for multi-locus genetic association studies. We reproduced findings of previous studies with a much smaller cohort and demonstrated HMIP as the strongest regulator of Hb F in Chinese β-thal carriers.

  16. Growth and endocrine disorders in thalassemia: The international network on endocrine complications in thalassemia (I-CET position statement and guidelines

    Directory of Open Access Journals (Sweden)

    Vincenzo De Sanctis

    2013-01-01

    Full Text Available The current management of thalassemia includes regular transfusion programs and chelation therapy. It is important that physicians be aware that endocrine abnormalities frequently develop mainly in those patients with significant iron overload due to poor compliance to treatment, particularly after the age of 10 years. Since the quality of life of thalassemia patients is a fundamental aim, it is vital to monitor carefully their growth and pubertal development in order to detect abnormalities and to initiate appropriate and early treatment. Abnormalities should be identified and treatment initiated in consultation with a pediatric or an adult endocrinologist and managed accordingly. Appropriate management shall put in consideration many factors such as age, severity of iron overload, presence of chronic liver disease, thrombophilia status, and the presence of psychological problems. All these issues must be discussed by the physician in charge of the patient′s care, the endocrinologist and the patient himself. Because any progress in research in the field of early diagnosis and management of growth disorders and endocrine complications in thalassemia should be passed on to and applied adequately to all those suffering from the disease, on the 8 May 2009 in Ferrara, the International Network on Endocrine Complications in Thalassemia (I-CET was founded in order to transmit the latest information on these disorders to the treating physicians. The I-CET position statement outlined in this document applies to patients with transfusion-dependent thalassemia major to help physicians to anticipate, diagnose, and manage these complications properly.

  17. Splenectomy for Children With Thalassemia: Total or Partial Splenectomy, Open or Laparoscopic Splenectomy.

    Science.gov (United States)

    Al-Salem, Ahmed H

    2016-01-01

    Splenomegaly and hypersplenism are common complications among children with thalassemia necessitating splenectomy. Thirty-six children (27 β-thalassemia major, 3 Hb H disease, and 6 thalassemia intermediate) had total splenectomy (11 laparoscopic and 13 open splenectomy) or partial splenectomy (12 patients). In the partial splenectomy group, 2 with Hb H required no transfusions. For those with β-thalassemia major who had partial splenectomy (9 patients), there was a reduction in the number of transfusions from a preoperative mean of 15.2 transfusions per year to a postoperative mean of 8.2 transfusions per year. Subsequently and as a result of increase in the size of splenic remnant, their transfusions increased, but none required total splenectomy. Twenty-four patients had total splenectomy (13 open and 11 laparoscopic splenectomy). Their postsplenectomy transfusions decreased from a preoperative mean of 17.8 transfusions per year to a postoperative mean of 10 transfusions per year. There was no mortality, and none developed postoperative sepsis or thrombotic complications. Total splenectomy is beneficial for children with β-thalassemia major and hypersplenism by reducing their transfusion requirements. Laparoscopic splenectomy is however more beneficial. Partial splenectomy reduces their transfusion requirements, but only as a temporary measure, and so it is recommended for children younger than 5 years of age.

  18. HEMATOPOIETIC STEM CELL TRNSPLANTATION IN THALASSEMIA AND RELATED DISORDERS

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    Emanuele Angelucci

    2009-06-01

    Full Text Available The   basis of allogeneic hemopoietic stem cell (HSC transplantation in thalassemia consists in substituting the ineffective thalassemic erythropoiesis with and allogeneic effective one. This approach is an efficient way to obtain a long lasting, probably permanent, clinical effective correction of the anaemia avoiding transfusion requirement and subsequent complications like iron overload.   The first HSC transplant for thalassemia was performed in Seattle on Dec 2, 1981. In the early eighties transplantation procedure was limited to very few centres worldwide. Subsequently between 17 December 1981 and 31 January 2003, over  1000 consecutive patients, aged from 1 to 35 years, underwent transplantation in Pesaro. After the  pioneering work by the Seattle  and Peasaro groups,  this therapeutic approach is now widely applied worldwide. Medical therapy of thalassemia is one of the most spectacular successes of the medical practice in the last decades. In recent years advances in knowledge of iron overload patho-physiopathology, improvement and diffusion of diagnostic capability together with the development of new effective and safe oral chelators  promise to further increase success of medical therapy. Nevertheless situation is dramatically different in non-industrialized countries were the very large majority of patients live today . Transplantation technologies have improved substantially during the last years and transplantation outcome is likely to be much better today than in the ‘80s. Recent data indicated a probability of overall survival and thalassemia free survival of 97% and 89% for patients with no advanced disease and of 87% and 80% for patients with advanced disease.  Thus the central role of HSC in thalassemia has now been fully established. Thalassemia remains the only definitive curative therapy for thalassemia and other hemoblobinopathies. The development of oral chelators has not changed this position. However this

  19. Thalassemia mutations in Gaziantep, Turkey

    African Journals Online (AJOL)

    STORAGESEVER

    2010-02-22

    Feb 22, 2010 ... thalassemia mutation (3.7 single gene deletions in 1 patient, anti-3.7 gene triplication in 4 patients) was determined at the same time. Finally ... inherited disorder of hemoglobin (Hb) synthesis in the world, with gene ..... Peykar DP, Akhavan-Niaki H, Tamaddoni A, Ghawidel-Parsa S, Naieni. KH, Rahmani M ...

  20. The α-thalassemias.

    Science.gov (United States)

    Piel, Frédéric B; Weatherall, David J

    2014-11-13

    More than 100 varieties of α-thalassemia have been identified. Their geographic distribution and the challenges associated with screening, diagnosis, and management suggest that α-thalassemias should have a higher priority on global public health agendas.

  1. Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study

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    Boonyawat B

    2014-12-01

    Full Text Available Boonchai Boonyawat,1 Chalinee Monsereenusorn,2 Chanchai Traivaree2 1Division of Genetics, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand; 2Division of Hematology/Oncology, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand Background: Beta-thalassemia is one of the most common genetic disorders in Thailand. Clinical phenotype ranges from silent carrier to clinically manifested conditions including severe beta-thalassemia major and mild beta-thalassemia intermedia. Objective: This study aimed to characterize the spectrum of beta-globin gene mutations in pediatric patients who were followed-up in Phramongkutklao Hospital. Patients and methods: Eighty unrelated beta-thalassemia patients were enrolled in this study including 57 with beta-thalassemia/hemoglobin E, eight with homozygous beta-thalassemia, and 15 with heterozygous beta-thalassemia. Mutation analysis was performed by multiplex amplification refractory mutation system (M-ARMS, direct DNA sequencing of beta-globin gene, and gap polymerase chain reaction for 3.4 kb deletion detection, respectively. Results: A total of 13 different beta-thalassemia mutations were identified among 88 alleles. The most common mutation was codon 41/42 (-TCTT (37.5%, followed by codon 17 (A>T (26.1%, IVS-I-5 (G>C (8%, IVS-II-654 (C>T (6.8%, IVS-I-1 (G>T (4.5%, and codon 71/72 (+A (2.3%, and all these six common mutations (85.2% were detected by M-ARMS. Six uncommon mutations (10.2% were identified by DNA sequencing including 4.5% for codon 35 (C>A and 1.1% initiation codon mutation (ATG>AGG, codon 15 (G>A, codon 19 (A>G, codon 27/28 (+C, and codon 123/124/125 (-ACCCCACC, respectively. The 3.4 kb deletion was detected at 4.5%. The most common genotype of beta-thalassemia major patients was codon 41/42 (-TCTT/codon 26 (G>A or betaE accounting for 40%. Conclusion: All of the beta-thalassemia alleles have been characterized by

  2. Prevalence and predictors of cardiac and liver iron overload in patients with thalassemia: A multicenter study based on real-world data.

    Science.gov (United States)

    Krittayaphong, Rungroj; Viprakasit, Vip; Saiviroonporn, Pairash; Siritanaratkul, Noppadol; Siripornpitak, Suvipaporn; Meekaewkunchorn, Arunotai; Kirawittaya, Thawatchai; Sripornsawan, Pornpun; Jetsrisuparb, Arunee; Srinakarin, Jiraporn; Wong, Peerapon; Phalakornkul, Nuttaporntira; Sinlapamongkolkul, Phakatip; Wood, John

    2017-07-01

    Prevalence of cardiac and liver iron overload in patients with thalassemia in real-world practice may vary among different regions especially in the era of widely-used iron chelation therapy. The aim of this study was to determine the prevalence of cardiac and liver iron overload in and the management patterns of patients with thalassemia in real-world practice in Thailand. We established a multicenter registry for patients with thalassemia who underwent magnetic resonance imaging (MRI) as part of their clinical evaluation. All enrolled patients underwent cardiac and liver MRI for assessment of iron overload. There were a total of 405 patients enrolled in this study. The mean age of patients was 18.8±12.5years and 46.7% were male. Two hundred ninety-six (73.1%) of patients received regular blood transfusion. Prevalence of cardiac iron overload (CIO) and liver iron overload (LIO) was 5.2% and 56.8%, respectively. Independent predictors for iron overload from laboratory information were serum ferritin and transaminase for both CIO and LIO. Serum ferritin can be used as a screening tool to rule-out CIO and to diagnose LIO. Iron chelation therapy was given in 74.6%; 15.3% as a combination therapy. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Spectrum of beta-globin gene mutations among thalassemia patients in the West Bank region of Palestine.

    Science.gov (United States)

    Darwish, Hisham M; El-Khatib, Fadia F; Ayesh, Suhail

    2005-01-01

    beta-Thalassemia (thal) is an autosomal recessive disorder that results in hypochromic hemolytic anemia in affected patients. In the West Bank area of Palestine, the prevalence of beta-thal trait is approximately 3.5% among the population, with an estimated 120,000 carriers. Seventeen beta-globin gene mutations could be identified in 148 patients using polymerase chain reaction (PCR), amplification refractory mutation system (ARMS)-PCR and direct sequencing. The predominant mutations included: IVS-I-6 (T --> C) (28.7%), IVS-I-110 (G --> A) (17.6%), codon 37 (G --> A) (10.4%), IVS-I-1 (G --> A) (9%), codons 106/107 (+ G) (6.8%) and codon 39 (C --> T) (4.6%). Other less frequent and rare mutations included: IVS-II-1 (G --> A), codon 5 (-CT), IVS-II-848 (C --> A), -30 (T --> A), codons 8/9 (+ G), IVS-I-5 (G --> C), -28 (A --> C), IVS-II-745 (C --> G), codon 6(-A), codon 27 (G --> T) and codon 30 (AGG --> ACG). Most patients (62.2%) were homozygous for one type of mutation, while the rest (27.3%) were compound heterozygotes. Some patients were heterozygous for beta-thal and sickle cell anemia traits. No mutations could be detected in both alleles of eight patients, while in seven patients only one mutant allele could be detected. Further investigations are needed to resolve the corresponding genotypes of these patients. This study represents a comprehensive investigation of the type, frequency, and distribution of thalassemia mutations among the Palestinian population in the West Bank region of Palestine. A degree of similarity and significant variations was evident in the type and frequency of mutations when the present mutations profile was compared with similar ones among various Arab and non Arab populations. The association between the identified mutations and the corresponding genotypes of our patients with specific polymorphism frameworks in the beta-globin gene was performed and the results revealed linkage disequilibrium.

  4. Diagnostic difficulty of beta-thalassemia syndrome in a multi-transfused patient: contribution of myelogram and studying parents.

    Science.gov (United States)

    Trawinski, Élisabeth; Fenneteau, Odile; Le Mouel, Lou; Ithier, Ghislaine; Couque, Nathalie

    2017-10-01

    We report the case of a 5 year old, initially followed for congenital sideroblastic anemia, whose explorations reveal a complex family hemoglobinopathy. Myelogram performed in children, reveals dystrophic mature erythroblasts with hemoglobinization defect and basophil punctuations. These abnormalities point towards an abnormal synthesis of heme or globin chains. Iterative transfusions in child do not allow interpreting a search for abnormal hemoglobin. However, the analysis carried out in his parents, with increased HBA2 rate and microcytosis concluded in beta-thalassemia trait for father and mother. Knowing that beta-thalassemia syndrome is a genetic condition, usually recessive, the presence of beta-thalassemia trait in parents is in favor of a beta-thalassemia syndrome in child. This diagnostic hypothesis is confirmed by molecular study of globin genes that will reveal a complex hemoglobinopathie for all family's members. The parents are carriers for heterozygous mutation of β+ thalassemia that the sick child presents in homozygous state supporting the diagnosis of beta-thalassemia syndrome. Moreover, a triple α globin gene is present respectively at heterozygous state for mother and at homozygous state for father and child. The triple α globin gene is a known factor of aggravation of beta-thalassemia and this clinical case with continuum observed, perfectly illustrates the intricacies between α and β globin genes.

  5. Raman spectroscopy technology to monitor the carotenoids in skin of thalassemia patients: a novel non-invasive tool relating oxidative stress with iron burden

    Directory of Open Access Journals (Sweden)

    Anna Perrone

    2014-09-01

    Full Text Available In this work we approach the relationship between redox state and iron overload by noninvasive instrumental techniques. Intracardiac, liver iron and liver fibrosis have been monitored in transfusion-dependent thalassemia patients by magnetic resonance imaging and hepatic transient elastography examinations. These measurements have been matched with a non-invasive, and yet unexplored in clinical practice, evaluation of body’s oxidative stress through measurement of antioxidant carotenoids in skin, by a spectroscopic method based on Raman technology (RRS. The global body’s antioxidant status results from a balance between the level of antioxidants in cells and body fluids, including blood, and pro-oxidant species endogenously produced or coming from external sources. On this basis, the level of skin carotenoids can be considered a biomarker of the entire antioxidant status. In our work the use of RRS method provided information on the redox state of thalassemia patients, which was correlated with the iron status of the patients. Due to the highly adverse effects of accumulated iron, the novel, simple, non-invasive RRS to monitor dermal carotenoids with high compliance of the patients may be a useful tool for the management of thalassemia patients.

  6. Genetic therapy for beta-thalassemia: from the bench to the bedside.

    Science.gov (United States)

    Arumugam, Paritha; Malik, Punam

    2010-01-01

    Beta-thalassemia is a genetic disorder with mutations in the β-globin gene that reduce or abolish β-globin protein production. Patients with β-thalassemia major (Cooley's anemia) become severely anemic by 6 to 18 months of age, and are transfusion dependent for life, while those with thalassemia intermedia, a less-severe form of thalassemia, are intermittently or rarely transfused. An allogeneically matched bone marrow transplant is curative, although it is restricted to those with matched donors. Gene therapy holds the promise of "fixing" one's own bone marrow cells by transferring the normal β-globin or γ-globin gene into hematopoietic stem cells (HSCs) to permanently produce normal red blood cells. Requirements for effective gene transfer for the treatment of β-thalassemia are regulated, erythroid-specific, consistent, and high-level β-globin or γ-globin expression. Gamma retroviral vectors have had great success with immune-deficiency disorders, but due to vector-associated limitations, they have limited utility in hemoglobinopathies. Lentivirus vectors, on the other hand, have now been shown in several studies to correct mouse and animal models of thalassemia. The immediate challenges of the field as it moves toward clinical trials are to optimize gene transfer and engraftment of a high proportion of genetically modified HSCs and to minimize the adverse consequences that can result from random integration of vectors into the genome by improving current vector design or developing novel vectors. This article discusses the current state of the art in gene therapy for β-thalassemia and some of the challenges it faces in human trials.

  7. Hypercoagulable state as demonstrated by thromboelastometry in hemoglobin E/beta-thalassemia patients: Association with clinical severity and splenectomy status.

    Science.gov (United States)

    Natesirinilkul, Rungrote; Charoenkwan, Pimlak; Nawarawong, Weerasak; Boonsri, Settapong; Tantivate, Pakinee; Wongjaikum, Suwakon; Manowong, Suphara; Sanguansermsri, Torpong

    2016-04-01

    Patients with hemoglobin E/beta-thalassemia disease (E/β) are at risk of thromboembolism. Rotational thromboelastometry (ROTEM®) can be used to determine a hypercoagulable state. The objective was to describe the hemostatic and thromboelastometric changes in pediatric patients with E/β with different clinical severity, in comparison with healthy children as controls. Fifty-three pediatric patients with E/β and 21 healthy children were enrolled. The clinical severity of E/β was categorized by using the clinical severity scores. All subjects were tested for complete blood count, protein C activity (PC), total protein S (PS), antithrombin (AT), D-dimer and fibrinogen (Fib) levels and thromboelastometry, measured by ROTEM®. The levels of PC (65.7 vs 118.5%), PS (46.8 vs 78.4%), AT (95.7 vs 105.7%) and Fib (217 vs 294 mg/dL) were significantly lower, and the platelet count (PLT) was significantly higher in the patient group than the controls. The maximum clot firmness (MCF) of patients with moderate disease who were previously splenectomized (seven patients) and patients with severe disease (nine patients) were higher than patients who had intact spleen with moderate disease, patients with mild disease and controls (P<0.05). Only PLT had significant correlation with MCF (P<0.05). Hypercoagulable state was demonstrated by ROTEM® in patients with E/β with severe disease and who were previously splenectomized. The hypercoagulable state was associated with the higher numbers of PLT rather than the decrease of PC, PS, and AT. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. Percutaneous excretion of iron and ferritin (through Al-hijamah) as a novel treatment for iron overload in beta-thalassemia major, hemochromatosis and sideroblastic anemia.

    Science.gov (United States)

    El Sayed, Salah Mohamed; Abou-Taleb, Ashraf; Mahmoud, Hany Salah; Baghdadi, Hussam; Maria, Reham A; Ahmed, Nagwa Sayed; Nabo, Manal Mohamed Helmy

    2014-08-01

    Iron overload is a big challenge when treating thalassemia (TM), hemochromatosis and sideroblastic anemia. It persists even after cure of TM with bone marrow transplantation. Iron overload results from increased iron absorption and repeated blood transfusions causing increased iron in plasma and interstitial fluids. Iron deposition in tissues e.g. heart, liver, endocrine glands and others leads to tissue damage and organ dysfunction. Iron chelation therapy and phlebotomy for iron overload have treatment difficulties, side effects and contraindications. As mean iron level in skin of TM patients increases by more than 200%, percutaneous iron excretion may be beneficial. Wet cupping therapy (WCT) is a simple, safe and economic treatment. WCT is a familiar treatment modality in some European countries and in Chinese hospitals in treating different diseases. WCT was reported to clear both blood plasma and interstitial spaces from causative pathological substances (CPS). Standard WCT method is Al-hijamah (cupping, puncturing and cupping, CPC) method of WCT that was reported to clear blood and interstitial fluids better than the traditional WCT (puncturing and cupping method, PC method of WCT). In other word, traditional WCT may be described as scarification and suction method (double S technique), while Al-hijamah may be described as suction, scarification and suction method (triple S technique). Al-hijamah is a more comprehensive treatment modality that includes all steps and therapeutic benefits of traditional dry cupping therapy and WCT altogether according to the evidence-based Taibah mechanism (Taibah theory). During the first cupping step of Al-hijamah, a fluid mixture is collected inside skin uplifting due to the effect of negative pressure inside sucking cups. This fluid mixture contains collected interstitial fluids with CPS (iron, ferritin and hemolyzed RBCs in thalassemia), filtered fluids (from blood capillaries) with iron and hemolyzed blood cells (hemolyzed

  9. Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniques.

    Science.gov (United States)

    Rahimi, Zohreh; Muniz, Adriana; Parsian, Abbas

    2010-01-01

    Beta Thalassemia has been reported to be a common genetic disorder in Iran. To establish the molecular spectrum of the beta thalassemias in the Kermanshah Province of Iran, 185 unrelated beta thalassemia patients with Kurdish ethnic background were studied (181 beta-thalassemia major and 4 beta-thalassemia intermedia). Using polymerase chain reaction-amplification refractory mutation system (PCR-ARMS), restriction fragment length polymorphism (RFLP) and direct genomic sequencing twenty different mutations were identified accounting for 98.1% of the alleles. Approximately 80.8% of beta-thalassemia chromosomes had beta(0) mutation. The most prevalent mutation was the IVSII-1 (G-->A) (32.97%), followed by CD8/9 +G (13.51%), IVSI-110 (C-->T) (8.38%), CD 36/37 -T (7.84%), CD8 -AA (5.94%), CD15 (G-->A) (4.86%) and IVSI-1 (G-->A) (4.59%). All of these mutations accounted for 78.1% of the alleles. The results described here will be of valuable help in the development of successful prevention programs for the population of Kermanshah.

  10. Xmn1-158 γGVariant in B-Thalassemia Intermediate Patients in South-East of Iran.

    Science.gov (United States)

    Miri-Moghaddam, Ebrahim; Bahrami, Sara; Naderi, Majid; Bazi, Ali; Karimipoor, Morteza

    2017-04-01

    Background: Xmn-1 polymorphism of (G)globin gene (HBG2) is a prominent quantitative trait loci (QTL) in β-thalassemia intermediate (β-TI). In current study, we evaluated the frequency of Xmn-1 polymorphism and its association with β-globin gene (HBB) alleles and Hb F level in β-TI patients in Sistan and Balouchestan province, south-east of Iran. Subjects and Methods: 45 β-TI patients were enrolled. HBB gene mutations and Xmn-1 polymorphism were determined by amplification-refractory mutation system (ARMS) PCR method. Hemoglobin profile was determined using capillary electrophoresis. Results: The study participants consisted of 26 (58%) males and 19 (42%) females. Mean age of the patients was 10.7±3.1 years old. Overall, Xmn-1 polymorphism was observed in 28 (62%) patients. Homozygous (TT) and heterozygous (CT) genotypes of the polymorphism represented with frequencies of 12 (26%) and 16 (35%), respectively. Main recognized HBB gene mutation was IVSI-5(G>C) with homozygous frequency of 44%. Non-zero (β(+)) alleles of HBB gene constituted 11.1 % (4 patients with heterozygous β(+) and one with homozygous β(+) genotype). Hb F level was significantly higher in patients with at least one Xmn-1allele (67.9±[Formula: see text]17.9%) than those without the polymorphism (19.5±20.3%, P<0.0001). Also, patients with homozygous genotype demonstrated significantly higher Hb F compared to heterozygous (CT) cases (respective percentages of 85±[Formula: see text]6.8 and 54.7±[Formula: see text]10.5, p<0.0001). Conclusion: Our results highlighted the role of Xmn-1 polymorphism as the main phenotypic modifier in β-TI patients in Sistan and Balouchestan province.

  11. Imaging findings in a child with calcineurin inhibitor-induced pain syndrome after bone marrow transplant for beta thalassemia major

    Energy Technology Data Exchange (ETDEWEB)

    Ayyala, Rama S.; Arnold, Staci D.; Bhatia, Monica; Dastgir, Jahannaz [Columbia University Medical Center, Morgan Stanley Children' s Hospital, Department of Radiology, New York, NY (United States)

    2016-10-15

    Calcineurin inhibitor-induced pain syndrome is an entity recognized in patients on immunosuppressive therapy after transplantation. Diagnosis is characterized by onset of pain beginning in the setting of an elevated calcineurin-inhibitor trough level. Reducing the medication dose relieves symptoms. Imaging findings can be nonspecific, including bone marrow edema and periosteal reaction. We present the unique case of calcineurin inhibitor-induced pain syndrome in a child and review the imaging findings. (orig.)

  12. Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series.

    Science.gov (United States)

    Mikobi, Tite Minga; Lukusa, Prosper Tshilobo; Aloni, Michel Ntetani; Lumaka, Aimé; Akilimali, Pierre Zalagile; Devriendt, Koenraad; Matthijs, Gert; Mbuyi Muamba, Jean-Marie; Race, Valerie

    2017-03-09

    Information about the association with alpha thalassemia in sickle cell patients is unknown in the Democratic Republic of Congo. There is very little data on the alpha thalassemia in patients suffering from sickle cell anemia in Central Africa, and their consequences on the clinical expression of the disease. A cross-sectional study was conducted in 106 sickle cell patients living in the country's capital Kinshasa. The diagnosis of sickle cell anemia was confirmed with a molecular test using PCR-RFLP (restriction fragment length polymorphism) technique. The diagnosis of thalassemia was performed by the technique of multiplex ligation dependent probe amplification. The mean age of our patients was 22.4±13.6 years. The α3.7 heterozygous deletion, the α3.7 homozygous deletion and the α3.7 triplication were respectively encountered in 23.6%, 25.5% , and 11.3% of patients. Patients with normal αα/αα genotype represented 39.6% of the study population. The average of severe vaso-occlusive crises, the rates of blood transfusions per year, the rate of osteonecrosis, cholelithiasis and leg ulcers were significantly lower in the group of patients with α3.7 homozygous deletion and α3.7 triplication. The prevalence of α3.7 triplication was higher in sickle cell patients in the Democratic Republic of Congo than in worldwide series. The α3.7 triplication and α3.7 homozygous deletion were associated with less severe forms of the Sickle cell anemia in Congolese patients. These results showed the need to investigate systematically the alpha-globin gene mutations in sickle cell population in Central Africa. © 2017 Wiley Periodicals, Inc.

  13. Diabetes mellitus complicating β-thalassemia: a case report

    African Journals Online (AJOL)

    A case of beta-thalassemia major complicated by diabetes mellitus in a Fiji national is presented. The mechanisms involved in the pathogenesis of this complication are highlighted. Keywords: β-thalassemia, diabetes mellitus, iron overload. Annals of African Medicine Vol.2(1) 2003: 36-38 ...

  14. Prevalence of -alpha(3.7) and alpha alpha alpha(anti3.7) alleles in sickle cell trait and beta-thalassemia patients in Mexico.

    Science.gov (United States)

    Nava, María Paulina; Ibarra, Bertha; Magaña, María Teresa; de la Luz Chávez, María; Perea, F Javier

    2006-01-01

    The aim of this study was to determine the frequency of alpha-globin gene mutations in three groups of Mexican unrelated individuals. The first two groups were normal and sickle cell trait individuals from the Costa Chica region, a place with a 12.8% frequency of HbS carriers, and the third group comprised of Mexican mestizo patients with beta-thalassemia. We searched for -alpha(3.7) and -alpha(4.2) alpha(+)-thalassemia deletion alleles, as well as the alpha alpha alpha(anti3.7) triplication through long-gap PCR. The alleles -alpha(3.7) and alpha alpha alpha(anti3.7) were found in the heterozygote state only; 19% of the normal subjects had the -alpha(3.7) allele, and 2% showed the alpha alpha alpha(anti3.7) allele. In individuals with the sickle cell trait, 17% had the -alpha(3.7) deletion, and the alpha alpha alpha(anti3.7) triplication was observed in 3% of these individuals. We revealed that 16% of the subjects with beta-thalassemia showed the -alpha(3.7) deletion and 28% the alpha alpha alpha(anti3.7) triplication. The -alpha(4.2) deletion was not detected in any individual. The frequency of the -alpha(3.7) allele was roughly the same in the three groups studied; this can be explained by the fact that the three groups have common genes from Africa and the Mediterranean, where a high prevalence of alpha(+)-thalassemia has been observed. To our knowledge, the frequency of alpha alpha alpha(anti3.7) triplication observed in the Mexican beta-thalassemia patients is the highest reported. As the -alpha(3.7) and alpha alpha alpha(anti3.7) alleles are very common in our selected populations, we believe that there is a need to investigate systematically the alpha-globin gene mutations in all hemoglobinopathies in the Mexican population.

  15. Preventing thalassemia in Lebanon: successes and challenges in a developing country.

    Science.gov (United States)

    Abi Saad, Michele; Haddad, Anthony G; Alam, Elie S; Aoun, Sanaa; Maatouk, Pascale; Ajami, Najat; Khairallah, Therese; Koussa, Suzanne; Musallam, Khaled M; Taher, Ali T

    2014-01-01

    Thalassemia continues to be a major health burden. The chronicity of the disease and the high cost of life-long treatment make prevention strategies crucial in the management of this disease. In this article, we revisit different successful prevention strategies, and underline the Lebanese model. The Chronic Care Center (CCC), Beirut, is the only specialized center in Lebanon for the treatment and prevention of thalassemia. The current number of patients registered up to August 2013 was 724, representing cases from all over Lebanon. In 1994, the center launched a national prevention program following the World Health Organization (WHO) recommendations. The major activities of the program include awareness campaigns, screening for thalassemia carriers in the general population and high risk groups, registry of new cases and follow-up on the mandatory premarital law (established at the same time). Screening programs showed a carrier rate of around 2.3% in the general population, and 4.0-41.0% in high risk groups. The major pitfall in the law is that only persons with a mean corpuscular volume (MCV) of >70.0 fL are asked to perform further hemoglobin (Hb) testing. A significant decrease in the number of new cases of thalassemia patients in Lebanon reflects the efforts deployed in the prevention of the disease. However, some limitations are faced in reaching a complete eradication of the disease, mainly due to the fact that abortion is illegal and due to pitfalls and incorrect implementation of the premarital law.

  16. Imaging features of thalassemia

    Energy Technology Data Exchange (ETDEWEB)

    Tunaci, M.; Tunaci, A.; Engin, G.; Oezkorkmaz, B.; Acunas, G.; Acunas, B. [Dept. of Radiology, Istanbul Univ. (Turkey); Dincol, G. [Dept. of Internal Medicine, Istanbul Univ. (Turkey)

    1999-07-01

    Thalassemia is a kind of chronic, inherited, microcytic anemia characterized by defective hemoglobin synthesis and ineffective erythropoiesis. In all thalassemias clinical features that result from anemia, transfusional, and absorptive iron overload are similar but vary in severity. The radiographic features of {beta}-thalassemia are due in large part to marrow hyperplasia. Markedly expanded marrow space lead to various skeletal manifestations including spine, skull, facial bones, and ribs. Extramedullary hematopoiesis (ExmH), hemosiderosis, and cholelithiasis are among the non-skeletal manifestations of thalassemia. The skeletal X-ray findings show characteristics of chronic overactivity of the marrow. In this article both skeletal and non-skeletal manifestations of thalassemia are discussed with an overview of X-ray findings, including MRI and CT findings. (orig.)

  17. Evaluation of Discrimination Indices Validity for Screening of β-Thalassemia Trait

    Directory of Open Access Journals (Sweden)

    Ahmadi A.

    2009-11-01

    Full Text Available AbstractBackground and Objectives: β-thalassemia trait (β-TT and iron deficiency anemia (IDA are the most common forms of microcytic anemia. Screening of β-thalassemia trait is important for medical counseling before marriage and preventing β-thalassemia major birth results. The most common problem in screening -TT is differentiating it from IDA. The aim of this study was to define the sensitivity, specificity, and predictive values of some discrimination indices for screening of β-TT in a sample of such patients.Methods: A total of 82 patients with microcytic anemia (MCV< 80 fl were selected from Namazi Hospital, Shiraz, Iran, and 9 discrimination indices were calculated for them. The patients were divided intotwo groups: 42 patients with β-TT and 40 patients with IDA. The sensitivity, specificity, positive and negative predictive values and Youden,s index of each discrimination index were calculated for screening β-TT.Results: None of the discrimination indices showed 100% of sensitivity and specificity. But the Shin and Lal index, RDW index and RBC count showed the highest and valuable value for screening β-TT.Conclusion: Some discrimination indices like Shin and Lal index, RDW index and RBC index are valuable indices in screening β-TT.Keywords: Beta- Thalassemia; Anemia, Iron Deficiency.

  18. Transfusion regimens in thalassemia intermedia

    Directory of Open Access Journals (Sweden)

    Z. Karakas

    2011-12-01

    Full Text Available Thalassemia intermedia (TI is a heterogeneous disease, in terms of both clinical manifestations and underlying molecular defects. Some TI patients are asymptomatic until adult life, whereas others are symptomatic from early childhood. In contrast with patients with Thalassemia major (TM, the severity of anemia is less and the patients do not require transfusions during at least the first few years of life. Many patients with TI, especially older ones, have been exposed to the multiple long-term effects of chronic anemia and tissue hypoxia and their compensatory reactions, including enhanced erythropoiesis and increased iron absorption. Bone marrow expansion and extramedullary hematopoiesis lead to bone deformities and liver and spleen enlargement. Therapeutic strategies in TI are not clear and different criteria are used to decide the initiation of transfusion and chelation therapy, modulation of fetal hemoglobin production, and hematopoietic stem cell transplantation on an individual basis. The clinical picture of well-treated TM patients with regular transfusionchelation therapy is better from TI patients who have not received adequate transfusion therapy. There is a significant role of early blood transfusion to prevent and treat complications commonly associated with TI, such as extramedullary erythropoiesis and bone deformities, autoimmune hemolytic anemia, leg ulcers, gallstones, pseudoxantoma elasticum, hyperuricosuria, gout and pulmonary hypertension, which are rarely seen in thalassemia major. Nowadays, indications of transfusion in patients with TI are chronic anemia (Hb < 7 g/dL, bone deformities, growth failure, extramedullary erythropoiesis, heart failure, pregnancy and preparation for surgical procedures. Conclusion: Adequate (regular or tailored transfusion therapy is an important treatment modality for increasing the quality of life in patients with thalassemia intermedia during childhood. 就临床表象和潜在的分子缺

  19. β-Thalassemia and Polycythemia vera : Targeting chronic stress erythropoiesis

    NARCIS (Netherlands)

    Crielaard, Bart J; Rivella, Stefano

    β-Thalassemia and Polycythemia vera are genetic disorders which affect the synthesis of red blood cells, also referred to as erythropoiesis. Although essentially different in clinical presentation - patients with β-thalassemia have an impairment in β-globin synthesis leading to defective

  20. Peripheral Neuropathy: Not a Feature of Childhood Thalassemia ...

    African Journals Online (AJOL)

    Background: Chronic anemia in thalassemia patients may cause multiple complications such as bone deformities, growth retardation, and peripheral neuropathy. Aim: To examine the presence of possible electrophysiological changes in children diagnosed with thalassemia and to investigate the clinical factors affecting the ...

  1. INFECTIONS IN THALASSEMIA AND HEMOGLOBINOPATHIES

    Directory of Open Access Journals (Sweden)

    Bianca Maria Ricerca

    2009-12-01

    Full Text Available The clinical approach to thalassemia and hemoglobinopathies, specifically Sickle Cell Disease (SCD, based on transfusions, iron chelation and bone marrow transplantation has ameliorated their prognosis. Nevertheless, infections still may cause serious complications in these patients. The susceptibility to infections in thalassemia and SCD arises both from a large spectrum of immunological abnormalities and from exposure to specific infectious agents. Four fundamental issues will be focused upon as central causes of immune dysfunction: the diseases themselves; iron overload, transfusion therapy and the role of the spleen. Thalassemia and SCD differ in their pathogenesis and clinical course. It will be outlined how these differences affect immune dysfunction, the risk of infections and the types of most frequent infections in each disease. Moreover, since transfusions are a fundamental tool for treating these patients, their safety is paramount in reducing the risks of infections. In recent years, careful surveillance worldwide and improvements in laboratory tests reduced greatly transfusion transmitted infections, but the problem is not completely resolved. Finally, selected topics will be discussed regarding Parvovirus B19 and transfusion transmitted infections as well as the prevention of infectious risk postsplenectomy or in presence of functional asplenia.

  2. Efficacy and safety of iron-chelation therapy with deferoxamine, deferiprone, and deferasirox for the treatment of iron-loaded patients with nontransfusion-dependent thalassemia syndromes

    Directory of Open Access Journals (Sweden)

    Taher AT

    2016-12-01

    Full Text Available Ali T Taher,1 John B Porter,2 Antonis Kattamis,3 Vip Viprakasit,4 M Domenica Cappellini51Department of Internal Medicine, American University of Beirut, Beirut, Lebanon; 2Department of Haematology, University College London, London, UK; 3First Department of Pediatrics, University of Athens, Athens, Greece; 4Department of Pediatrics and Thalassemia Center, Siriraj Hospital, Mahidol University, Bangkok, Thailand; 5Department of Internal Medicine, Università di Milano, Ca Granda Foundation IRCCS, Milan, ItalyAs the scientific steering committee for THALASSA (an assessment of Exjade in nontransfusion-dependent thalassemia [NTDT], we read with interest the review by Kontoghiorghe and Kontoghiorghes entitled “Efficacy and safety of iron-chelation therapy with deferoxamine, deferiprone, and deferasirox for the treatment of iron-loaded patients with non-transfusion-dependent thalassemia syndromes” published in January 2016.1 While this review provides a detailed overview of available iron chelators for the treatment of NTDT patients, there remain some factual inaccuracies and misrepresentations of data related to deferasirox. Therefore, we believe that the current article may be misleading to readers of Drug Design, Development and Therapy.Author’s replyGeorge J KontoghiorghesPostgraduate Research Institute of Science, Technology, Environment and Medicine, Limassol, CyprusThere are many murky areas and marketing, legal, ethical, and other conflicts in the pharmaceutical industry, some of which involve physicians and academics. These activities and related ethical issues affect the safety and treatment of millions of patients.1–11 Irregular and sometimes illegal activities for new patented drugs carried out by pharmaceutical companies, such as secrecy agreements with academics/academic institutions, can lead to biased reporting of the results of clinical trials and cover ups or underreporting of toxic side effects, as well as doctor’s bribes

  3. beta-thalassaemia major hos børn og unge i Danmark

    DEFF Research Database (Denmark)

    Jung, Anne; Main, Katharina Maria; Scheibel, Elma

    2002-01-01

    INTRODUCTION: Beta-thalassemia major occurs with increasing frequency among Danish children as a result of immigration. The aim of the study was to estimate the occurrence of beta-thalassemia major in Denmark, analyse the treatment and organ functions, and identify areas for an improved treatment....... An earlier and more effective iron chelation therapy together with improved patient support may reduce growth disturbances and endocrine and cardiac late effects....... strategy. MATERIAL AND METHODS: During 1998-99 all Danish pediatric departments were contacted for identification of children aged 0-18 years with beta-thalassemia major. Blood transfusions and chelation therapy were registered, and for Eastern Denmark clinical, endocrine, cardiac, and serologic parameters...... were performed. RESULTS: Twenty-six children had beta-thalassemia major. Out of these, 20 received blood transfusions, and 17 patients were chelated. Eight patients were not chelated owing to previous bone marrow transplantation, treatment with hydroxyurea or ferritin

  4. beta-thalassaemia major hos børn og unge i Danmark

    DEFF Research Database (Denmark)

    Jung, Anne; Main, Katharina Maria; Scheibel, Elma

    2002-01-01

    INTRODUCTION: Beta-thalassemia major occurs with increasing frequency among Danish children as a result of immigration. The aim of the study was to estimate the occurrence of beta-thalassemia major in Denmark, analyse the treatment and organ functions, and identify areas for an improved treatment....... An earlier and more effective iron chelation therapy together with improved patient support may reduce growth disturbances and endocrine and cardiac late effects. Udgivelsesdato: 2002-Dec-2...... strategy. MATERIAL AND METHODS: During 1998-99 all Danish pediatric departments were contacted for identification of children aged 0-18 years with beta-thalassemia major. Blood transfusions and chelation therapy were registered, and for Eastern Denmark clinical, endocrine, cardiac, and serologic parameters...... were performed. RESULTS: Twenty-six children had beta-thalassemia major. Out of these, 20 received blood transfusions, and 17 patients were chelated. Eight patients were not chelated owing to previous bone marrow transplantation, treatment with hydroxyurea or ferritin

  5. Beta-thalassaemia major hos børn og unge i Danmark

    DEFF Research Database (Denmark)

    Jung, A.; Main, K.M.; Scheibel, E.

    2002-01-01

    INTRODUCTION: Beta-thalassemia major occurs with increasing frequency among Danish children as a result of immigration. The aim of the study was to estimate the occurrence of beta-thalassemia major in Denmark, analyse the treatment and organ functions, and identify areas for an improved treatment....... An earlier and more effective iron chelation therapy together with improved patient support may reduce growth disturbances and endocrine and cardiac late effects....... strategy. MATERIAL AND METHODS: During 1998-99 all Danish pediatric departments were contacted for identification of children aged 0-18 years with beta-thalassemia major. Blood transfusions and chelation therapy were registered, and for Eastern Denmark clinical, endocrine, cardiac, and serologic parameters...... were performed. RESULTS: Twenty-six children had beta-thalassemia major. Out of these, 20 received blood transfusions, and 17 patients were chelated. Eight patients were not chelated owing to previous bone marrow transplantation, treatment with hydroxyurea or ferritin

  6. Health-Related Quality of Life, Treatment Satisfaction, Adherence and Persistence in β-Thalassemia and Myelodysplastic Syndrome Patients with Iron Overload Receiving Deferasirox: Results from the EPIC Clinical Trial

    Directory of Open Access Journals (Sweden)

    John Porter

    2012-01-01

    Full Text Available Treatment of iron overload using deferoxamine (DFO is associated with significant deficits in patients' health-related quality of life (HRQOL and low treatment satisfaction. The current article presents patient-reported HRQOL, satisfaction, adherence, and persistence data from β-thalassemia (n=274 and myelodysplastic syndrome (MDS patients (n=168 patients participating in the Evaluation of Patients' Iron Chelation with Exjade (EPIC study (NCT00171821; a large-scale 1-year, phase IIIb study investigating the efficacy and safety of the once-daily oral iron chelator, deferasirox. HRQOL and satisfaction, adherence, and persistence to iron chelation therapy (ICT data were collected at baseline and end of study using the Medical Outcomes Short-Form 36-item Health Survey (SF-36v2 and the Satisfaction with ICT Questionnaire (SICT. Compared to age-matched norms, β-thalassemia and MDS patients reported lower SF-36 domain scores at baseline. Low levels of treatment satisfaction, adherence, and persistence were also observed. HRQOL improved following treatment with deferasirox, particularly among β-thalassemia patients. Furthermore, patients reported high levels of satisfaction with deferasirox at end of study and greater ICT adherence, and persistence. Findings suggest deferasirox improves HRQOL, treatment satisfaction, adherence, and persistence with ICT in β-thalassemia and MDS patients. Improving such outcomes is an important long-term goal for patients with iron overload.

  7. beta-thalassaemia major hos børn og unge i Danmark

    DEFF Research Database (Denmark)

    Jung, Anne; Main, Katharina Maria; Scheibel, Elma

    2002-01-01

    was documented in one out of eight patients examined. All patients were HIV and hepatitis C negative. For 75% of the children, the parents were related. DISCUSSION: Children and adolescents with beta-thalassemia major in Denmark experience major heterogenicity with regard to treatment and late effects......INTRODUCTION: Beta-thalassemia major occurs with increasing frequency among Danish children as a result of immigration. The aim of the study was to estimate the occurrence of beta-thalassemia major in Denmark, analyse the treatment and organ functions, and identify areas for an improved treatment...... strategy. MATERIAL AND METHODS: During 1998-99 all Danish pediatric departments were contacted for identification of children aged 0-18 years with beta-thalassemia major. Blood transfusions and chelation therapy were registered, and for Eastern Denmark clinical, endocrine, cardiac, and serologic parameters...

  8. Premarital genetic screening for beta thalassemia carrier status of indexed families using HbA2 electrophoresis.

    Science.gov (United States)

    Nosheen, Aneeqa; Ahmad, Habib; Qayum, Iftikhar; Siddiqui, Noaman; Abbasi, Fida Muhammad; Iqbal, Muhammad Sajjad

    2015-10-01

    To devise a strategy for prevention of beta thalassemia in newborns through reliable screening of indexed families. The cross-sectional study was conducted over six months in 2011 and comprised blood samples collected from subjects belonging to different ethnic groups from families of beta thalassemia major children registered with the Abbottonian Medical Association Blood Care Centre, Abbottabad, in Pakistan's Khyber Pakhtunkhwa province. Electrophoretic separation of human haemoglobin like A, F, S and C was done and then haemoglobin in the gel was immobilised in a fixative solution and the gel was dried to a film. Haemoglobin pattern was visualised by staining the film with a protein-specific stain. The pattern was quantified by densitometry. Of the 98 samples, 57(58.2%) had b-thalassemia trait with elevated haemoglobin alpha 2 level, and 41(41.8%) had normal level. Out of the 57 carriers, 33(57.89%) were males and 24(42.10%) were females. Mean age of carriers was 11.65±6.25 years compared to 10.93±7.75 in normal patients. Mean haemoglobin alpha 2 level of carriers was 5.2±0.56% compared to 2.34±0.57% in normal subjects. Carrying out mass screening programmes throughout Pakistan for the detection of thalassemia carriers and providing them the benefit of marriage counselling may decrease the incidence of thalassemia Major.

  9. Laboratory investigation of hemoglobinopathies and thalassemias: review and update.

    Science.gov (United States)

    Clarke, G M; Higgins, T N

    2000-08-01

    Structural hemoglobin (Hb) variants typically are based on a point mutation in a globin gene that produce a single amino acid substitution in a globin chain. Although most are of limited clinical significance, a few important subtypes have been identified with some frequency. Homozygous Hb C and Hb S (sickle cell disease) produce significant clinical manifestations, whereas Hb E and Hb D homozygotes may be mildly symptomatic. Although heterozygotes for these variants are typically asymptomatic, diagnosis may be important for genetic counseling. Thalassemia, in contrast, results from quantitative reductions in globin chain synthesis. Those with diminished beta-globin chains are termed beta-thalassemias, whereas those with decreased alpha-chain production are called alpha-thalassemias. Severity of clinical manifestations in these disorders relates to the amount of globin chain produced and the stability of residual chains present in excess. The thalassemia minor syndromes are characterized clinically by mild anemia with persistent microcytosis. Thalassemia intermedia (i.e., Hb H disease) is typified by a moderate, variably compensated hemolytic anemia that may present with clinical symptoms during a period of physiologic stress such as infection, pregnancy, or surgery. The thalassemia major syndromes produce severe, life-threatening anemia. alpha-Thalassemia major usually is incompatible with extrauterine life; beta-thalassemia major presents in infancy and requires life-long transfusion therapy and/or bone marrow transplantation for successful control of the disease. Double heterozygosity for certain structural variants and/or thalassemia syndromes may also lead to severe clinical disease. Several guidelines have been published that outline the required steps for hemoglobinopathy and thalassemia investigation. The availability of HPLC has streamlined many of these requirements, allowing an efficient stepwise diagnostic strategy for these complex disorders.

  10. Frequency of Thalassemia in Iran and Khorasan Razavi

    Directory of Open Access Journals (Sweden)

    Gholam Hasan Khodaei

    2013-12-01

    Full Text Available Introduction: Beta-thalassemia is the most common hereditary disease in Iran. More than two million carriers of beta-thalassemia live in Iran. Since the Iranian population is a mixture of different ethnic groups, it is necessary to determine the frequency  in the different parts of the country. Materials and Methods: This descriptive study is a cross sectional study with helping by professional groups fighting diseases in Khorasan Razavi province.   Results: In Iran, according to World Health Organization, about 4 percent of the population, are carriers of the thalassemia gene. In other words, about 2-3 million people are suffering from thalassemia minor.Now, more than 18 thousand cases of thalassemia are scattered across the country in different provinces, are different. Mazandaran, Gilan, Hormozgan, Khuzestan, kohgiloyeh, Fars, Bushehr, Sistan and Baluchestan, Kerman and Isfahan, are 10 provinces with high prevalence in our country. We have 342 cases of thalassemia major in Khorasan Razavi province.   Conclusion: Prevalence  of thalassemia in our country is 3.6%  and Iran is located on the belt of thalassemia and due to a history of consanguinity, this disease has a prevalence of 0.6% among in the provinces of Khorasan Razavi.

  11. Few reports of hemoglobin E/beta-thalassemia in Northeast India: underdiagnosis or complete exclusion of beta-thalassemia by hemoglobin E.

    Science.gov (United States)

    Krishnamurti, L

    2000-01-01

    India bears a major burden of homozygous beta-thalassemia. Hemoglobin (Hb) E/beta-thalassemia has been described mainly among Bengalis in Eastern India. Ethnic groups in northeastern India have among the highest known gene frequency for Hb E. However, there are few reports of Hb E/beta-thalassemia from these ethnic groups. This study aims to determine whether the paucity of reports of Hb E/beta-thalassemia from this region are because of underdiagnosis or complete elimination of beta-thalassemia by Hb E. The published literature concerning Hb E, beta-thalassemia, and the syndrome of Hb E/beta-thalassemia in Indid, Tibeto-Burman, and Austro-Asiatic ethnic groups in northeast India was analyzed to determine the gene frequency of Hb E and beta-thalassemia for different ethnic groups. The expected cases of Hb E/beta-thalassemia were calculated using the Hardy-Weinberg law. The Bodo-Kachari have a gene frequency of 0.50 for Hb E, the highest anywhere in the world. There are, however, no reports of beta-thalassemia in this group. Among ethnic groups in which prevalence of Hb E and beta-thalassemia are known, there is a vast discrepancy between the reported number of cases of Hb E/beta-thalassemia and the number predicted by Hardy-Weinberg law. Thus, there are only seven cases of Hb E/beta-thalassemia from northeast India reported in the literature as opposed to 67,332 predicted cases. A potentially large pool of unsuspected Hb E/beta-thalassemia cases exist in northeast India. The significance of this finding and possible contributory factors are discussed.

  12. Seamless gene correction of β-thalassemia mutations in patient-specific iPSCs using CRISPR/Cas9 and piggyBac

    Science.gov (United States)

    Xie, Fei; Ye, Lin; Chang, Judy C.; Beyer, Ashley I.; Wang, Jiaming; Muench, Marcus O.

    2014-01-01

    β-thalassemia, one of the most common genetic diseases worldwide, is caused by mutations in the human hemoglobin beta (HBB) gene. Creation of human induced pluripotent stem cells (iPSCs) from β-thalassemia patients could offer an approach to cure this disease. Correction of the disease-causing mutations in iPSCs could restore normal function and provide a rich source of cells for transplantation. In this study, we used the latest gene-editing tool, CRISPR/Cas9 technology, combined with the piggyBac transposon to efficiently correct the HBB mutations in patient-derived iPSCs without leaving any residual footprint. No off-target effects were detected in the corrected iPSCs, and the cells retain full pluripotency and exhibit normal karyotypes. When differentiated into erythroblasts using a monolayer culture, gene-corrected iPSCs restored expression of HBB compared to the parental iPSCs line. Our study provides an effective approach to correct HBB mutations without leaving any genetic footprint in patient-derived iPSCs, thereby demonstrating a critical step toward the future application of stem cell-based gene therapy to monogenic diseases. PMID:25096406

  13. Beta Thalassemia (For Parents)

    Science.gov (United States)

    ... anemia or failure to thrive. If the doctor suspects beta thalassemia, he or she will take a ... test called a hemoglobin electrophoresis and/or a DNA test for abnormal hemoglobin genes. If both parents ...

  14. Alpha Thalassemia (For Parents)

    Science.gov (United States)

    ... anemia or failure to thrive . If the doctor suspects alpha thalassemia, he or she will take a ... the blood, evaluate hemoglobin, and test a child's DNA for abnormal hemoglobin genes. If both parents are ...

  15. Comparison between an artificial neural network and logistic regression in predicting acute graft-vs-host disease after unrelated donor hematopoietic stem cell transplantation in thalassemia patients.

    Science.gov (United States)

    Caocci, Giovanni; Baccoli, Roberto; Vacca, Adriana; Mastronuzzi, Angela; Bertaina, Alice; Piras, Eugenia; Littera, Roberto; Locatelli, Franco; Carcassi, Carlo; La Nasa, Giorgio

    2010-05-01

    There is growing interest in the development of prognostic models for predicting the occurrence of acute graft-vs-host disease (aGVHD) after unrelated donor hematopoietic stem cell transplantation. A high number of variables have been shown to play a role in aGVHD, but the search for a predictive algorithm is still ongoing. Artificial neural networks (ANNs) represent an attractive alternative to multivariate analysis for clinical prognosis. So far, no reports have investigated the ability of ANNs in predicting HSCT outcome. We compared the prognostic performance of ANNs with that of logistic regression (LR) in 78 beta-thalassemia major patients given unrelated donor hematopoietic stem cell transplantation. Twenty-four independent variables were analyzed for their potential impact on outcomes. Twenty-six patients (33.3%) developed grade II to IV aGVHD. In multivariate analysis, homozygosity for donor KIR haplotype A (p = 0.03), donor age (p = 0.05), and donor homozygosity for the deletion of the human leukocyte antigen-G 14-bp polymorphism (p = 0.05) were independently significantly correlated to aGVHD. The mean sensitivity of LR and ANNs (capability of predicting aGVHD in patients who developed aGVHD) in test datasets was 21.7% and 83.3%, respectively (p < 0.001); the mean specificity (capability of predicting absence of aGVHD in patients who did not develop aGVHD) was 80.5% and 90.1%, respectively (p = NS). Although ANNs are unable to calculate the weight of single variables on outcomes, they were found to have a better performance than LR. A combination of these two methods could be more efficient in predicting outcomes and help tailor GVHD prophylaxis regimens according to the predicted risk of each patient. Whether ANN technology will provide better predictive performance when applied to other datasets remains to be confirmed. 2010 ISEH-Society for Hematology and Stem Cells. Published by Elsevier Inc. All rights reserved.

  16. beta-thalassaemia major hos børn og unge i Danmark

    DEFF Research Database (Denmark)

    Jung, Anne; Main, Katharina Maria; Scheibel, Elma

    2002-01-01

    INTRODUCTION: Beta-thalassemia major occurs with increasing frequency among Danish children as a result of immigration. The aim of the study was to estimate the occurrence of beta-thalassemia major in Denmark, analyse the treatment and organ functions, and identify areas for an improved treatment...... strategy. MATERIAL AND METHODS: During 1998-99 all Danish pediatric departments were contacted for identification of children aged 0-18 years with beta-thalassemia major. Blood transfusions and chelation therapy were registered, and for Eastern Denmark clinical, endocrine, cardiac, and serologic parameters...... were performed. RESULTS: Twenty-six children had beta-thalassemia major. Out of these, 20 received blood transfusions, and 17 patients were chelated. Eight patients were not chelated owing to previous bone marrow transplantation, treatment with hydroxyurea or ferritin

  17. Beta-thalassaemia major hos børn og unge i Danmark

    DEFF Research Database (Denmark)

    Jung, A.; Main, K.M.; Scheibel, E.

    2002-01-01

    INTRODUCTION: Beta-thalassemia major occurs with increasing frequency among Danish children as a result of immigration. The aim of the study was to estimate the occurrence of beta-thalassemia major in Denmark, analyse the treatment and organ functions, and identify areas for an improved treatment...... strategy. MATERIAL AND METHODS: During 1998-99 all Danish pediatric departments were contacted for identification of children aged 0-18 years with beta-thalassemia major. Blood transfusions and chelation therapy were registered, and for Eastern Denmark clinical, endocrine, cardiac, and serologic parameters...... were performed. RESULTS: Twenty-six children had beta-thalassemia major. Out of these, 20 received blood transfusions, and 17 patients were chelated. Eight patients were not chelated owing to previous bone marrow transplantation, treatment with hydroxyurea or ferritin

  18. Prevalence of thalassemia and hemoglobinopathy in eastern India: A 10-year high-performance liquid chromatography study of 119,336 cases.

    Science.gov (United States)

    Mondal, Santosh Kumar; Mandal, Saikat

    2016-01-01

    Hereditary hemoglobin (Hb) disorders are the most commonly encountered single gene disorders in India. Proper timely identification of these disorders is of paramount importance to prevent thalassemia major and clinically severe hemoglobinopathy as well as for epidemiologic purposes. Our aim was to determine the prevalence of thalassemia and hemoglobinopathy in patients of a tertiary care hospital of West Bengal, India. This prospective study was conducted on 119,336 cases over a period of 10 years. After taking clinical history and familial history, complete hemogram report was obtained by an automated cell counter. High-performance liquid chromatography (HPLC) was performed on the samples with Bio-Rad Variant using beta thalassemia short program. Confirmatory tests were performed whenever required. A normal Hb pattern was observed in 104,804 (87.83%) cases and abnormalities were detected in 14,532 (12.17%) patients. β (beta) thalassemia trait was the commonest abnormality found in 5,488 (4.60%) patients. HbE trait was found in 3,604 (3.02%) patients, β thalassemia major/intermedia in 1,981 (1.66%) cases, and Eβ thalassemia in 1,384 (1.16 %) cases. Other variants detected included HbE disease, sickle-cell disease, sickle β thalassemia, HbD-Punjab trait, HbQ-India trait, α-thal trait, double heterozygous state of HbS and HbE, double heterozygous state of HbS and HbD, HbJ-Meerut, hereditary persistence of fetal hemoglobin (HPFH), HbH, delta β-thal trait, and Hb Lepore. In view of the high prevalence of hemoglobinopathy in this region, a routine premarital screening program is needed for the identification and prevention of high-risk marriages and thus, prevention of the psychosocial trauma of bearing a transfusion-dependent child for life.

  19. Prevalence of thalassemia and hemoglobinopathy in eastern India: A 10-year high-performance liquid chromatography study of 119,336 cases

    Directory of Open Access Journals (Sweden)

    Santosh Kumar Mondal

    2016-01-01

    Full Text Available Background: Hereditary hemoglobin (Hb disorders are the most commonly encountered single gene disorders in India. Proper timely identification of these disorders is of paramount importance to prevent thalassemia major and clinically severe hemoglobinopathy as well as for epidemiologic purposes. Aims: Our aim was to determine the prevalence of thalassemia and hemoglobinopathy in patients of a tertiary care hospital of West Bengal, India. Materials and Methods: This prospective study was conducted on 119,336 cases over a period of 10 years. After taking clinical history and familial history, complete hemogram report was obtained by an automated cell counter. High-performance liquid chromatography (HPLC was performed on the samples with Bio-Rad Variant using beta thalassemia short program. Confirmatory tests were performed whenever required. Results: A normal Hb pattern was observed in 104,804 (87.83% cases and abnormalities were detected in 14,532 (12.17% patients. β (beta thalassemia trait was the commonest abnormality found in 5,488 (4.60% patients. HbE trait was found in 3,604 (3.02% patients, β thalassemia major/intermedia in 1,981 (1.66% cases, and Eβ thalassemia in 1,384 (1.16 % cases. Other variants detected included HbE disease, sickle-cell disease, sickle β thalassemia, HbD-Punjab trait, HbQ-India trait, α-thal trait, double heterozygous state of HbS and HbE, double heterozygous state of HbS and HbD, HbJ-Meerut, hereditary persistence of fetal hemoglobin (HPFH, HbH, delta β-thal trait, and Hb Lepore. Conclusion: In view of the high prevalence of hemoglobinopathy in this region, a routine premarital screening program is needed for the identification and prevention of high-risk marriages and thus, prevention of the psychosocial trauma of bearing a transfusion-dependent child for life.

  20. Severe bacterial infections in patients with non-transfusion-dependent thalassemia: prevalence and clinical risk factors

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    Nattiya Teawtrakul

    2015-10-01

    Conclusion: The prevalence of bacterial infection in patients with NTDT was found to be moderate. Time after splenectomy >10 years, deferoxamine therapy, and iron overload may be clinical risk factors for severe bacterial infection in patients with NTDT. Bacterial infection should be recognized in splenectomized patients with NTDT, particularly those who have an iron overload.

  1. One-Step Biallelic and Scarless Correction of a β-Thalassemia Mutation in Patient-Specific iPSCs without Drug Selection

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    Yali Liu

    2017-03-01

    Full Text Available Monogenic disorders (MGDs, which are caused by single gene mutations, have a serious effect on human health. Among these, β-thalassemia (β-thal represents one of the most common hereditary hematological diseases caused by mutations in the human hemoglobin β (HBB gene. The technologies of induced pluripotent stem cells (iPSCs and genetic correction provide insights into the treatments for MGDs, including β-thal. However, traditional approaches for correcting mutations have a low efficiency and leave a residual footprint, which leads to some safety concerns in clinical applications. As a proof of concept, we utilized single-strand oligodeoxynucleotides (ssODNs, high-fidelity CRISPR/Cas9 nuclease, and small molecules to achieve a seamless correction of the β-41/42 (TCTT deletion mutation in β thalassemia patient-specific iPSCs with remarkable efficiency. Additionally, off-target analysis and whole-exome sequencing results revealed that corrected cells exhibited a minimal mutational load and no off-target mutagenesis. When differentiated into hematopoietic progenitor cells (HPCs and then further to erythroblasts, the genetically corrected cells expressed normal β-globin transcripts. Our studies provide the most efficient and safe approach for the genetic correction of the β-41/42 (TCTT deletion in iPSCs for further potential cell therapy of β-thal, which represents a potential therapeutic avenue for the gene correction of MGD-associated mutants in patient-specific iPSCs.

  2. HEMATOPOIETIC STEM CELL TRNSPLANTATION IN THALASSEMIA AND RELATED DISORDERS

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    Mario Pani

    2009-06-01

    ;">  promise to further increase success of medical therapy. Nevertheless situation is dramatically different in non-industrialized countries were the very large majority of patients live today . Transplantation technologies have improved substantially during the last years and transplantation outcome is likely to be much better today than in the ‘80s. Recent data indicated a probability of overall survival and thalassemia free survival of 97% and 89% for patients with no advanced disease and of 87% and 80% for patients with advanced disease.  Thus the central role of HSC in thalassemia has now been fully established. Thalassemia remains the only definitive curative therapy for thalassemia and other hemoblobinopathies. The development of oral chelators has not changed this position. However this has not settled the controversy on how this curative but potentially lethal treatment stands in front of medical therapy for adults and advanced disease patients. In  sickle cell disease  HSC transplantation currently is reserved almost exclusively for patients with clinical features that indicate a poor outcome or significant sickle-related morbidity.

  3. Prevalence of anti HCV infection in patients with beta-thalassemia in Isfahan-Iran

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    Behrooz Ataei

    2012-01-01

    Conclusions: Our findings revealed that blood transfusion was the main risk factors for HCV infection among beta-thalassemic patients. Therefore, more blood donor screening programs and effective screening techniques are needed to prevent transmission of HCV infection among beta-thalassemic patients.

  4. Bone marrow transplantation for thalassemia: a global perspective

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    Mohamed Hamed Hussein

    2013-03-01

    Full Text Available Even though severe thalassemia is a preventable disease, over 100,000 new cases are born yearly, particularly in the Middle East and South-East Asia. Most of these children may not reach adulthood because long-term appropriate supportive care is either inaccessible or unaffordable. Bone marrow transplantation (BMT remains the only available definitive cure and success rates can be very high in appropriately selected patients, i.e. low-risk younger children with a matched family donor. In these circumstances BMT may be justified medically, ethically as well as financially, in fact, the cost of low-risk BMT is equivalent to that of a few years of non-curative supportive. This manuscript will briefly review the current status of bone marrow transplantation for thalassemia major with particular emphasis on a global prospective and present the experience of the Cure2Children Foundation supporting sustainable and scalable start up BMT programs in low-resource settings. The initial twelve consecutive patients managed in two start up BMT units in Pakistan (Children’s Hospital of the Pakistan Institute of Medical Sciences, Islamabad and India (South East Asia Institute for Thalassemia, Jaipur were included in this analysis. These initial six patients per each institution where purposely chosen as the focus of this report because they represent the steepest phase of the learning curve. The median age at transplant was 3.9 years, range 0.9 to 6.0, liver was no greater than 2 cm from costal margin, and all received matched related BMT. A structured on-site focused training program as well as ongoing intensive on-line cooperation was provided by the Cure2Children team of professionals. At a median follow-up of 7.5 months (range 3.5 to 33.5 months both thalassemia-free and overall survival are 92%, one patient died of encephalitis-meningitis of unknown cause. No rejections where observed. Neutrophil recovery occurred at a median of 15.5 days (range 13

  5. Basal and stimulated levels of growth hormone, insulin-like growth factor-I (IGF-I), IGF-I binding and IGF-binding proteins in beta-thalassemia major.

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    Karydis, Ioannis; Karagiorga-Lagana, Markisia; Nounopoulos, Charalambos; Tolis, George

    2004-01-01

    A significant percentage of children with beta-thalassemia major shows retardation in longitudinal growth as they progress towards puberty due to skeletal dysplasia, endocrine gland hypofunction or trace element deficiencies. The aim of this study was to evaluate GH/IGF-I secretion and action in prepubertal patients with beta-thalas-semia major. Eight prepubertal patients with short stature (group A) and seven prepubertal patients with normal stature (group B) were studied. Basal and stimulated (after administration of the hexapeptide Hexarelin) GH levels were measured with IRMA (Nichols); IGF-I and IGFBP-3 levels were measured with RIA (Nichols). IGF-I binding proteins (IGFBPs) were analyzed qualitatively with Western ligand blot. IGF-I binding to B-lymphocytes of the patients was also measured with competitive binding studies using human recombinant IGF-I and 125I-IGF-I (Amersham). Basal GH levels did not differ statistically between the groups. Peak GH levels after Hexarelin stimulation test were higher in group A (A: 27.9 +/- 15.6 ng/ml vs B: 9.1 +/- 4.7 ng/ml) (Wilcoxon test, p < 0.05). IGF-I levels in the two groups were low-normal and comparable (A: 168.0 +/- 81.6 ng/ml vs B: 126.6 +/- 25.5 ng/ml). IGFBP-3 levels were low in both groups (A: 1.21 +/- 0.27 microg/ml vs B: 1.08 +/- 0.20 microg/ml). Western ligand blot did not reveal any discernible difference in IGFBPs. However, IGF-I binding on B-lymphocytes was at least 20% lower in group A compared to group B (t-test, p < 0.01). IGF-I binding inversely correlated with peak GH levels (r = -0.54, p < 0.05). Patients in group A were older and chronological age correlated with IGF-I levels (r = 0.53, p < 0.05) whereas it inversely correlated with IGF-I binding (r = -0.63, p < 0.05). Moreover, patients in group A had higher ferritin levels. No correlation was found between ferritin levels, desferrioxamine dose/compliance or liver enzyme levels and the parameters of the GH axis studied. However, desferrioxamine

  6. The Association between Myocardial Iron Load and Ventricular Repolarization Parameters in Asymptomatic Beta-Thalassemia Patients

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    Mehmet Kayrak

    2012-01-01

    Full Text Available Previous studies have demonstrated impaired ventricular repolarization in patients with β-TM. However, the effect of iron overload with cardiac T2* magnetic resonance imaging (MRI on cardiac repolarization remains unclear yet. We aimed to examine relationship between repolarization parameters and iron loading using cardiac T2* MRI in asymptomatic β-TM patients. Twenty-two β-TM patients and 22 age- and gender-matched healthy controls were enrolled to the study. From the 12-lead surface electrocardiography, regional and transmyocardial repolarization parameters were evaluated manually by two experienced cardiologists. All patients were also undergone MRI for cardiac T2* evaluation. Cardiac T2* score <20 msec was considered as iron overload status. Of the QT parameters, QT duration, corrected QT interval, and QT peak duration were significantly longer in the β-TM group compared to the healthy controls. Tp−Te and Tp−Te dispersions were also significantly prolonged in β-TM group compared to healthy controls. (Tp-Te/QT was similar between groups. There was no correlation between repolarization parameters and cardiac T2* MRI values. In conclusion, although repolarization parameters were prolonged in asymptomatic β-TM patients compared with control, we could not find any relation between ECG findings and cardiac iron load.

  7. Expression of Hepcidin and Growth Differentiation Factor 15 (GDF-15 Levels in Thalassemia Patients with Iron Overload and Positive Anti Hepatitis C Virus

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    Nuri Dyah Indrasari

    2016-09-01

    Full Text Available Background: Thalassemia patients who undergo life-long recurrent blood transfusion will experience iron overload in various organs including the liver and possibly suffer from chronic hepatitis C infection which may lead to liver impairment. The liver produces hepcidin, a hormone which plays role in the regulation of iron level in the blood. Various factors may influence hepcidin level in the blood. Chronic hepatitis C causes iron overload and liver impairment. Liver impairment and haemolytic anaemia due to haemoglobinopathy will suppress hepcidin production. Anaemia stimulates growth differentiation factor 15 (GDF-15 to increase erythropoiesis and suppress hepcidin production. Iron overload causes increase in hepcidin level. Presence of factors which decrease or increase hepcidin production will express various levels of hepcidin. This study aimed to identify the expression of hepcidin and GDF-15 levels in thalassemia patients with iron overload and positive anti-HCV. Information on hepcidin and GDF-15 levels are beneficial in the management of iron overload in thalassemia with positive anti-HCV. Method: This study was a descriptive analytic study in thalassemia patients who had received recurrent blood transfusion ≥ 12 times, suffered from iron overload (transferrin saturation > 55% and ferritin > 1,000 ng/mL, which consisted of 31 individuals with positive anti-HCV and 27 individuals with negative anti-HCV. This study was performed in Thalassemia Centre Department of Child Health and Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, in October 2011–January 2012. Serum hepcidin and GDF-15 examinations were performed using enzyme-linked immunosorbent assay (ELISA method. Aspartate aminotransferase (AST and alanine aminotransferase (ALT examinations were performed using colorimetry method. Data on ferritin and transferrin saturation were obtained from medical records in the last 3

  8. WHAT UNRELATED HEMATOPOIETIC STEM CELL TRANSPLANTATION IN THALASSEMIA TAUGHT US ABOUT TRANSPLANT IMMUNOGENETICS.

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    Giorgio La Nasa

    2016-10-01

    Full Text Available Abstract Although the past few decades have shown an improvement in the survival and complication-free survival rates in patients with beta-thalassemia major and gene therapy is already at an advanced stage of experimentation, hematopoietic stem cell transplantation (HSCT continues to be the only effective and realistic approach to the cure of this chronic non-malignant disease. Historically, human leukocyte antigen (HLA-matched siblings have been the preferred source of donor cells owing to superior outcomes compared with HSCT from other sources. Nowadays, the availability of an international network of voluntary stem cell donor registries and cordon blood banks has significantly increased the odds of finding a suitable HLA matched donor. Stringent immunogenetic criteria for donor selection have made it possible to achieve overall survival (OS and thalassemia-free survival (TFS rates comparable to those of sibling transplants. However, acute and chronic graft-versus-host disease (GVHD remains the most important complication in unrelated HSCT in thalassemia, leading to considerable rates of morbidity and mortality for a chronic non-malignant disease. A careful immunogenetic assessment of donors and recipients makes it possible to individuate appropriate strategies for its prevention and management. This review provides an overview on recent insights about immunogenetic factors involved in GVHD, which seem to have a potential role in the outcome of transplantation for thalassemia.

  9. Lived experiences of Iranian parents of beta-thalassemia children.

    Science.gov (United States)

    Shahraki-Vahed, Aziz; Firouzkouhi, Mohammadreza; Abdollahimohammad, Abdolghani; Ghalgaie, Jamile

    2017-01-01

    Thalassemia is a chronic blood disease, which imposes adverse effects on patients and their families. Parents of such patients, given that they had the thalassemia trait, hold themselves responsible for their children's disease in addition to other difficulties, bear the burden of guilt and hopelessness and worry about the health and future of their children. This study aimed to explore the lived experiences of parents of children with thalassemia. The present research was conducted using a descriptive phenomenological approach. A purposive sampling was carried out until data saturation. Participants included 15 parents of children with thalassemia who were referred to the Thalassemia Center of Zabol to perform therapeutic procedures for their child in 2016. Extracted interviews were analyzed employing Colaizzi's method, and four main themes were obtained, including "Gray marriage consanguinity", "Burdened with increased number of thalassemia children", "Socio-familial worries" and "Inexpressible wishes for having an ideal society". The results revealed that parents of children with thalassemia experience a wide range of problems in different aspects, such as physical, emotional, mental, social, economic and familial dimensions. Their experiences are valuable and can help in achieving a better understanding of their problems, which in turn can enable the members of the treatment team to play a more active role and the society to have a better understanding of this disease.

  10. INFECTIONS IN THALASSEMIA AND HEMOGLOBINOPATHIES

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    Deborah Rund

    2009-06-01

    Full Text Available

     

    The clinical approach to thalassemia and hemoglobinopathies, specifically Sickle Cell Disease (SCD, based on transfusions, iron chelation and bone marrow transplantation has ameliorated their prognosis. Nevertheless, infections still may cause serious complications in these patients. The susceptibility to infections in thalassemia and SCD arises both from a large spectrum of immunological abnormalities and from exposure to specific infectious agents. Four fundamental issues will be focused upon as central causes of immune dysfunction: the diseases themselves; iron overload, transfusion therapy and the role of the spleen. Thalassemia and SCD differ in their pathogenesis and clinical course. It will be outlined how these differences affect immune dysfunction, the risk of infections and the types of most frequent infections in each disease. Moreover, since transfusions are a fundamental tool for treating these patients, their safety is paramount in reducing the risks of infections. In recent years, careful surveillance worldwide and improvements in laboratory tests reduced greatly transfusion transmitted infections, but the problem is not completely resolved. Finally, selected topics will be discussed regarding Parvovirus B19 and transfusion transmitted infections as well as the prevention of infectious risk postsplenectomy or in presence of functional asplenia.

  11. Hematopoietic Stem Cell Transplantation in Thalassemia and Sickle Cell Anemia

    Science.gov (United States)

    Lucarelli, Guido; Isgrò, Antonella; Sodani, Pietro; Gaziev, Javid

    2012-01-01

    The globally widespread single-gene disorders β-thalassemia and sickle cell anemia (SCA) can only be cured by allogeneic hematopoietic stem cell transplantation (HSCT). HSCT treatment of thalassemia has substantially improved over the last two decades, with advancements in preventive strategies, control of transplant-related complications, and preparative regimens. A risk class–based transplantation approach results in disease-free survival probabilities of 90%, 84%, and 78% for class 1, 2, and 3 thalassemia patients, respectively. Because of disease advancement, adult thalassemia patients have a higher risk for transplant-related toxicity and a 65% cure rate. Patients without matched donors could benefit from haploidentical mother-to-child transplantation. There is a high cure rate for children with SCA who receive HSCT following myeloablative conditioning protocols. Novel non-myeloablative transplantation protocols could make HSCT available to adult SCA patients who were previously excluded from allogeneic stem cell transplantation. PMID:22553502

  12. Are people getting quality thalassemia care in twin cities of Pakistan? A comparison with international standards.

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    Tanveer, Tehreem; Masud, Haleema; Butt, Zahid Ahmed

    2018-01-16

    This study was conducted to determine if thalassemia patients were getting quality care in Rawalpindi and Islamabad, Pakistan, as per international standards and to identify determinants for better quality of thalassemia care. A cross sectional study was conducted using interview based structured questionnaire, which was developed using standards of thalassemia care used by International Thalassemia Foundation. Five healthcare facilities catering to the needs of thalassemia patients in Rawalpindi and Islamabad, Pakistan. Data were collected from 315 thalassemia patients from May to August, 2016. Survey data on quality indicators. Results showed that almost half of thalassemia patients (48.5%) were getting poor quality of care. On average patients were getting only 63.93% of possible quality care for the disease. The most deficient quality area was management of complications where patients were getting only 49.1% of possible care. Better quality of care was likely to be received by those patients who were educated, patients with educated fathers, those visiting private facilities and those who were visiting facilities in Islamabad. Those with concomitant diseases were also likely to receive better care. Quality of care provided to thalassemia patients was well below the international standards for the care of thalassemia. There is a need to take urgent action to improve quality of care in the country.

  13. Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis.

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    Hoffmann, Johannes J M L; Urrechaga, Eloísa; Aguirre, Urko

    2015-11-01

    More than 40 mathematical indices have been proposed in the hematological literature for discriminating between iron deficiency anemia and thalassemia trait in subjects with microcytic red blood cells (RBCs). None of these discriminant indices is 100% sensitive and specific and also the ranking of the discriminant indices is not consistent. Therefore, we decided to conduct the first meta-analysis of the most frequently used discriminant indices. An extensive literature search yielded 99 articles dealing with 12 indices that were investigated five or more times. For each discriminant index we calculated the diagnostic odds ratio (DOR) and summary ROC analysis was done for comparing the performance of the indices. The ratio of microcytic to hypochromic RBCs (M/H ratio) showed the best performance, DOR=100.8. This was significantly higher than that of all other indices investigated. The RBC index scored second (DOR=47.0), closely followed by the Sirdah index (DOR=46.7) and the Ehsani index (DOR=44.7). Subsequently, there was a group of four indices with intermediate and three with lower DOR. The lowest performance (DOR=6.8) was found for the RDW (Bessman index). Overall, the indices performed better for adults than for children. The M/H ratio outperformed all other discriminant indices for discriminating between iron deficiency anemia and thalassemia trait. Although its sensitivity and specificity are not high enough for making a definitive diagnosis, it is certainly of value for identifying those subjects with microcytic RBC in whom diagnostic tests for confirming thalassemia are indicated.

  14. Coagulation and thrombotic risk in thalassemia intermedia

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    A.T. Taher

    2011-12-01

    Full Text Available As the life expectancy of β-thalassemia patients has markedly improved over the last few decades, several manifestations are increasingly recognized. The presence of a high incidence of thromboembolic events, mainly in thalassemia intermedia patients, has led to the identification of a hypercoagulable state in thalassemia. In this review, the current clinical experience attributed to the coagulopathy in thalassemia intermedia patients is summarized. Recommendations for thrombosis prophylaxis are also discussed. 近几十年来,随着β地中海贫血患者的平均寿命得到显著提高,几种试验结果得到了进一步证实。 地中海贫血中间患者出现高发血栓栓塞症,得以识别地中海贫血高凝状态。 本文总结了当前地中海贫血中间患者的凝血病临床经验, 也讨论了血栓症预防的推荐方法。

  15. Lived experiences of Iranian parents of beta-thalassemia children

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    Shahraki-vahed A; Firouzkouhi M; Abdollahimohammad A; Ghalgaie J

    2017-01-01

    Aziz Shahraki-vahed,1 Mohammadreza Firouzkouhi,1 Abdolghani Abdollahimohammad,1 Jamile Ghalgaie2 1Department of Medical Surgical, Faculty of Nursing and Midwifery, Zabol University of Medical Science, Zabol, Iran; 2Emam Khomeni Hospital, Zabol University of Medical Science, Zabol, Iran Introduction: Thalassemia is a chronic blood disease, which imposes adverse effects on patients and their families. Parents of such patients, given that they had the thalassemia trait, hold themselves responsib...

  16. Pain in thalassemia - an emerging complication

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    P.J. Giardina

    2011-12-01

    Full Text Available Many thalassemia subjects both transfused Major (TM and nontransfused Intermedia (TI suffer from longstanding bone disease, reduced or low bone mass (osteopenia or osteoporosis, fractures and bone pain. Unexpected musculoskeletal disease occurs despite longstanding hypertransfusion and new iron chelation strategies. Conditions which have been implicated in its pathogenesis include the massive ineffective erythropoiesis, chronic hypoxia associated with anemia, the local metabolic dysfunction from hemochromatosis, iron chelation toxicity, trace mineral deficiencies such as zinc deficiency, low vitamin D concentrations, the effect of endocrine dysfunction such as hypoparathyroidism, hypogonadism and growth hormone deficiency from hemochromatosis and the chronic inflammatory state induced by iron excess. The pathogenesis of bone disease has been attributed to the underlying marrow expansion of medullary bone caused by the massive ineffective erythropoiesis and subsequent cortical thinning. The process of normal bone health is maintained by a metabolic interplay of several hormonal factors including growth hormone, estrogen, testosterone, parathyroid hormone all of which can be diminished by iron overload in Thalassemia. Trace metals and vitamins including calcium, copper, zinc or vitamin C can also be deficient from iron excess or iron chelation which are also important contributors to bone metabolism. Indeed toxicities of iron chelation itself on bone development in the growing child associated with zinc deficiency, high Deferoxamine dosing and low iron burdens or the collagenous joint disease associated with deferiprone chelation have further contributed to the current musculoskeletal disease of Thalassemias. Decreased spinal height, vertebral flattening and scoliosis have also been reported. Magnetic Resonance Imaging (MRI of adolescent and adult β Thalassemia Major and Intermedia patients with osteoporosis and pain have assisted in defining the

  17. Insulin-like growth factor-1 levels in children with Beta-thalassemia minor

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    Mehran Karimi

    2008-09-01

    Full Text Available Objective: Growth retardation in children with b-thalassemia major is multifactorial. Some etiologies described for this condition are hemochromatosis, disturbed growth hormone (GH / insulin growth factor-1 (IGF-1 axis, undernutrition and hypermetabolism. It has also been proven that growth retardation is present in b-thalassemia major children despite regular transfusion and chelation. Our aim was to evaluate the level of IGF-1 in b-thalassemia minor subjects and compare it with that in healthy children. Material and Methods: Fifty children aged 6 months to 15 years with b-thalassemia minor (32 males, 18 females and 50 age- and sex-matched normal healthy children were selected. Medical history was taken and complete physical examination was done in each case; IGF-1 level was checked in all cases. This study was done in Shiraz, southern Iran, during 2005.Results: IGF-1 levels were significantly lower in b-thalassemia minor children than normal children (P = 0.015. This result demonstrates that some etiologies of growth failure in b-thalassemia major other than those described to date can exist, which may be shared with b-thalassemia minor in feature or may be transformed by genes that are either expressed or not.Conclusion: We conclude that in addition to that observed in b-thalassemia major, IGF-1 level is also decreased in b-thalassemia minor, and these two may have similar etiologies.

  18. The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival.

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    Maryam Bibi Rumaney

    Full Text Available BACKGROUND: Co-inheritance of α-thalassemia was reported to be associated with a delayed age of disease onset among Cameroonian Sickle Cell Anemia (SCA patients. The present study aimed to explore the correlation between α-thalassemia, hematological indices, and clinical events in these patients. METHODS AND FINDINGS: We studied 161 Cameroonian SCA patients and 103 controls (59.1% HbAA with median ages of 17.5 and 23 years. RFLP-PCR was used to confirm SCA genotype and to describe haplotypes in the HBB-like genes cluster. Multiplex Gap-PCR was performed to investigate the 3.7 kb α-globin gene deletions. SNaPshot PCR, capillary electrophoresis and cycle sequencing were used for the genotyping of 10 SNPs in BCL11A, HMIP1/2, OR51B5/6 and HBG loci, known to influence HbF levels. Generalised linear regression models adjusted for age, sex and SNPs genotypes was used to investigate effects of α-thalassemia on clinical and hematological indices. The median rate of vaso-occlusive painful crisis and hospitalisations was two and one per year, respectively. Stroke was reported in eight cases (7.4%. Benin haplotype was the most prevalent (66.3%; n = 208 chromosomes. Among patients, 37.3% (n = 60 had at least one 3.7 kb deletion, compared to 10.9% (n = 6 among HbAA controls (p<0.001. Among patients, the median RBC count increased with the number of 3.7 kb deletions [2.6, 3.0 and 3.4 million/dl, with no, one and two deletions (p = 0.01]. The median MCV decreased with the number of 3.7 kb deletion [86, 80, and 68fl, with no, one and two deletions (p<0.0001], as well as median WBC counts [13.2, 10.5 and 9.8×109/L (p<0.0001. The co-inheritance of α-thalassemia was associated with lower consultations rate (p = 0.038. CONCLUSION: The co-inheritance of α-thalassemia and SCA is associated with improved hematological indices, and lower consultations rate in this group of patients. This could possibly improve their survival and explain the

  19. Learning about Thalassemia

    Science.gov (United States)

    ... of the fluid surrounding the baby for testing. Assisted reproductive therapy is also an option for carriers who don't want to risk giving birth to a child with thalassemia. A new technique, pre-implantation genetic diagnosis (PGD), used in conjunction ...

  20. Soluble form of transferrin receptor-1 level is associated with the age at first diagnosis and the risk of therapeutic intervention and iron overloading in patients with non-transfusion-dependent thalassemia.

    Science.gov (United States)

    Ricchi, Paolo; Meloni, Antonella; Costantini, Silvia; Spasiano, Anna; Di Matola, Tiziana; Pepe, Alessia; Cinque, Patrizia; Filosa, Aldo

    2017-09-01

    We retrospectively evaluated the relationship between serum transferrin receptor-1 (sTfR1) and some fundamental events in the life and the management (the age at diagnosis, the age at the first red blood cells transfusion, the age at splenectomy, and the overall need of chelation therapy) of 111 patients with non-transfusion-dependent thalassemia (NTDT) subdivided in four genetic entities: patients with homozygous or compound heterozygous state for β-thalassemia, patients with triplicated α genotype associated with β heterozygosity, patients with deletional HbH, and patients with the combination of a β defect plus a β chain variant. We found that the group with homozygous or compound heterozygous state for β-thalassemia had the highest sTfR1 levels and that the presence of increased sTfR1 levels (>5 times normal) was associated with a complex and severe history of disease requiring splenectomy, occasional red blood cells transfusions, and early start and continuous iron chelation therapy.The complexity in the management of NTDT patients is an emerging issue due to the wide heterogeneity of clinical behavior. Our data indicate that the measurement of sTfR1 levels, a common laboratory test, could contribute to correctly stratify disease history and the iron chelation strategy in NTDT patients.

  1. Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β0-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia.

    Science.gov (United States)

    Li, Yan; Yan, Jin-Mei; Zhou, Jian-Ying; Lu, Yue-Cheng; Li, Dong-Zhi

    2017-01-01

    We first report a novel β chain variant, Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G], in a Chinese family. Heterozygous inheritance of the mutation results in a mild β-thalassemia (β-thal) phenotype, whereas compound heterozygosity of Hb Heze with β0-thal appears as the cause of β-thal intermedia (β-TI) in our case.

  2. Investigation of Distribution of Beta -Thalassemia Hereditary Mutations in Gaziantep and the Surrounding Areas

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    Serdar Öztuzcu

    2016-09-01

    Full Text Available Introduction: Beta-thalassemia is the most common autosomal recessive disease. More than 200 different mutations determined in beta-globin gene. Beta thalassemia disease has a severe clinical picture. Treatment of the diseases should be maintained properly otherwise quality of life and life period can be affected. In this study, we tried to reveal inherited beta-thalassemia mutations in surrounding areas of Gaziantep. Material and Methods: In this study, we included 208 patients who applied with beta -thalassemia suspicion to the pediatric hematology clinic (age range 4-14. In that study, 138 patients with homozygous mutations and 70 patients’ heterozygous mutations were identified. HBB gene was sequenced by Sanger DNA Sequencing method. Results: Most common homozygote mutations are IVS I-110 G>A, IVS I-1 G>A, IVS II-1 G>A, the heterozygote mutations are IVS I-110 G>A, IVS II-1 G>A, codon 8 (AA del. The incidence of IVS 1.110 (G>A mutation is 24%, 28 in homozygote patients, 29.7% in heterozygote patients. The 8% homozygote patients and 19.7% heterozygote patients were effected with IVS 1.110 (G>A mutation. Conclusion: The consanguinity marriages are very abundant particularly in our region due to fact that we are able to see many autosomal recessive diseased in our region. Reducing incidence of autosomal recessive disease by given genetic counseling could help the solution but it is still a major problem. J Clin Exp Invest 2016; 7(4: 265-268

  3. Molecular Diagnosis of Thalassemias and Hemoglobinopathies: An ACLPS Critical Review.

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    Sabath, Daniel E

    2017-07-01

    To describe the use of molecular diagnostic techniques for patients with hemoglobin disorders. A clinical scenario is presented in which molecular diagnosis is important for genetic counseling. Globin disorders, techniques for their diagnosis, and the role of molecular genetic testing in managing patients with these disorders are described in detail. Hemoglobin disorders, including thalassemias and hemoglobinopathies, are among the commonest genetic diseases, and the clinical laboratory is essential for the diagnosis of patients with these abnormalities. Most disorders can be diagnosed with protein-based techniques such as electrophoresis and chromatography. Since severe syndromes can result due to inheritance of combinations of globin genetic disorders, genetic counseling is important to prevent adverse outcomes. Protein-based methods cannot always detect potentially serious thalassemia disorders; in particular, α-thalassemia may be masked in the presence of β-thalassemia. Deletional forms of β-thalassemia are also sometimes difficult to diagnose definitively with standard methods. Molecular genetic testing serves an important role in identifying individuals carrying thalassemia traits that can cause adverse outcomes in offspring. Furthermore, prenatal genetic testing can identify fetuses with severe globin phenotypes.

  4. Prevalence of hepatosplenomegaly in beta thalassemia minor subjects in Iran

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    Karimi, Mehran [Hemostasis and Thrombosis Unit, Hematology Research Center, school of Medicine, Shiraz University of medical sciences, Shiraz (Iran, Islamic Republic of)], E-mail: Karimim@sums.ac.ir; Bagheri, Mohammad Hadi [Department of Radiology, School of Medicine, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of); Tahmtan, Mehdi [Hemostasis and Thrombosis Unit, Hematology Research Center, school of Medicine, Shiraz University of medical sciences, Shiraz (Iran, Islamic Republic of); Shakibafard, Alireza [Department of Radiology, School of Medicine, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of); Rashid, Murtaza [Hemostasis and Thrombosis Unit, Hematology Research Center, school of Medicine, Shiraz University of medical sciences, Shiraz (Iran, Islamic Republic of)

    2009-01-15

    Introduction: Thalassemia is the most common hereditary blood disorder in the world. Iran is located on the thalassemic belt and there is a high prevalence of the hepatosplenomegaly in beta thalassemia minor patients which is reported to be very variable. The goal of this research was to study the frequency of these signs in the cases with beta thalassemia minor patients in Iran. Materials and methods: Two hundred and fifty-nine cases that referred to center for pre-marriage tests were divided into two groups according to their MCV, MCH, and HbA2 (beta thalassemia minor cases and control groups). Liver and spleen sizes were determined by ultrasonographic method and the two groups were compared with each other. Results: Average spleen volumes in case and control groups were 163.48 {+-} 133.97 and 126.29 {+-} 53.98 mm{sup 3}, respectively. Average spleen lengths in case and control groups were 10.71 {+-} 1.52 and 10.60 {+-} 5.4 cm, respectively. Conclusion: In the regions with high frequency of beta thalassemia, in case of finding large spleen size in the ultrasonography, a probable harmless differential diagnosis will be beta thalassemia minor that is not indicative of any serious disease. Volumetric measurement of spleen is more reliable for detection of splenomegaly in these patients.

  5. β-thalassemia minor, carbohydrate malabsorption and histamine intolerance.

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    Schnedl, Wolfgang J; Schenk, Michael; Lackner, Sonja; Holasek, Sandra J; Mangge, Harald

    2017-10-01

    Background: β-thalassemia minor is characterized by reduced β-haemoglobin chain synthesis and sometimes mild anaemia, although carriers of β-thalassemia minorare usually clinically asymptomatic.Nonspecific abdominal complaints may be caused by gastrointestinal carbohydrate malabsorption (lactose and fructose) and/or malabsorption of biogenic amines (histamine), or proteins (gluten). Objectives: We report on two patients with β-thalassemia minor suffering nonspecific abdominal symptoms due to a carbohydrate and histamine malabsorption. Design/methods: The diagnosis of β-thalassemia minorwas done with peripheral blood smear and cellulose acetate electrophoresis. Carbohydrate malabsorption was diagnosed with hydrogen breath tests and, histamine intolerance (HIT) with a serum diamine oxidase value diet free of symptom causing carbohydrates and histamine.

  6. PREVENTION OF Β THALASSEMIA IN NORTHERN ISRAEL - A COST-BENEFIT ANALYSIS.

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    Ariel Koren

    2014-02-01

    Full Text Available Background:β Thalassemia major is characterized by hemolytic anemia, ineffectiveerythropoiesis and hemosiderosis. About 4 % of the world population carries a Thalassemiagene. Management includes blood transfusions and iron chelation, this treatmentis costly and population screening may be significantly more cost benefit. Purpose: Thepurpose of the current study is to analyze the cost of running a preventionprogram for β Thalassemia in Israel and compare it to the actual expensesincurred by treating Thalassemia patients. Methods: Threecost parameters were analyzed and compared: The prevention program, routinetreatment of patients and treatment of complications. An estimation of theexpenses needed to treat patients that present with complications werecalculated based on our ongoing experience in treatment of deterioratingpatients. Results andConclusions: The cost of preventing one affected newborn was $63,660 comparedto $1,971,380 for treatment of a patient during 50 years (mean annual cost:  $39,427. Thus, the prevention of 45 affectednewborns over a ten years period represents a net saving of $88.5 million tothe health budget. Even after deducting the cost of the prevention program ($413.795/yr., the program still represents abenefit of $ 76 million over ten years. Each prevented case could pay thescreening and prevention program for 4.6 ys.

  7. Prevalence of renal tubular dysfunction in beta thalassemia minor in shiraz

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    Ali Moradi Nakhodcheri

    2012-02-01

    Full Text Available  Background & objective: β-Thalassemia minor is an asymptomatic hereditary disease. The first study on the relation of renal tubular dysfunction and β-thalassemia minor was performed in 2002 but those studies seem inadequate.The main goal of this study is through evaluation of renal tubular function in 100 patients with thalassemia minor. Materials & Methods: 100 patients with β- thalassemia which confirmed by hemoglobin electrophoresis and CBC as well as RBC indices were studied.14 out of 100 cases exit because of Urinary Tract Infection, diabetes mellitus or hypertension.Complete chemistry profile was performed on serum and urine of all reminder 86 patients (46 female and 40 male. Patients classified into two groups: β-thalassemia minor with anemia and without anemia. Another control group include 50 healthy individuals also considered.Then data analyzed by proper statistical methods. Results: 20 out of 86 reminder cases e.g. 24% showed at least one index of renal tubular dysfunction.58% of patients was been anemic and 42% non anemic. The most prominent tubular dysfunction was seen in a 29 years old lady with glucosuria and without anemia. conclusion: β-Thalassemia minor is common in Iran specially in Fars province. This study revealed significant renal tubular dysfunction in patient with β-thalassemia minor. So it is necessary to check out thalassemic patients for renal function tests periodically. Key words: β-thalassemia, minor,renal tubular dysfunction

  8. Non-transfusion-dependent thalassemia and thalassemia intermedia: epidemiology, complications, and management.

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    Vichinsky, Elliott

    2016-01-01

    The non-transfusion-dependent thalassemias (NTDTs), including thalassemia intermedia (TI), hemoglobin E beta thalassemia, and hemoglobin H disease, have sometimes been regarded as less severe than their transfusion-dependent variants; however, these disorders carry a substantial disease burden (e.g., splenomegaly, iron overload, skeletal effects, and cardiopulmonary disease). The aim of this review is to increase clinician awareness of the growing global problem of NTDT and TI, and discuss the current management strategies for these conditions. Recent peer-reviewed articles (publication years 2000 through 2015) addressing the epidemiology, complications, management, and monitoring of NTDT were identified in the PubMed database and reviewed. The changing epidemiology of thalassemia constitutes a growing health problem. Increased clinician awareness is necessary for the appropriate diagnosis and management of patients with NTDT. Management of NTDT requires a comprehensive approach, beginning with screening and prenatal diagnosis, monitoring for iron overload and associated complications, and iron chelation therapy. Several novel strategies are in the early stages of investigation and may help increase treatment options in patients with NTDT. Importantly, ethnic or cultural barriers may exist within the affected populations and need to be considered in the management approach.

  9. Thermogravimetric analysis coupled with chemometrics as a powerful predictive tool for ß-thalassemia screening.

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    Risoluti, Roberta; Materazzi, Stefano; Sorrentino, Francesco; Maffei, Laura; Caprari, Patrizia

    2016-10-01

    β-Thalassemia is a hemoglobin genetic disorder characterized by the absence or reduced β-globin chain synthesis, one of the constituents of the adult hemoglobin tetramer. In this study the possibility of using thermogravimetric analysis (TGA) followed by chemometrics as a new approach for β-thalassemia detection is proposed. Blood samples from patients with β-thalassemia were analyzed by the TG7 thermobalance and the resulting curves were compared to those typical of healthy individuals. Principal Component Analysis (PCA) was used to evaluate the correlation between the hematological parameters and the thermogravimetric results. The thermogravimetric profiles of blood samples from β-thalassemia patients were clearly distinct from those of healthy individuals as result of the different quantities of water content and corpuscular fraction. The hematological overview showed significant decreases in the values of red blood cell indices and an increase in red cell distribution width value in thalassemia subjects when compared with those of healthy subjects. The implementation of a predictive model based on Partial Least Square Discriminant Analysis (PLS-DA) for β-thalassemia diagnosis, was performed and validated. This model permitted the discrimination of anemic patients and healthy individuals and was able to detect thalassemia in clinically heterogeneous patients as in the presence of δβ-thalassemia and β-thalassemia combined with Hb Lepore. TGA and Chemometrics are capable of predicting ß-thalassemia syndromes using only a few microliters of blood without any pretreatment and with an hour of analysis time. A fast, rapid and cost-effective diagnostic tool for the β-thalassemia screening is proposed. Copyright © 2016 Elsevier B.V. All rights reserved.

  10. Management of beta-thalassemia-associated osteoporosis.

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    Giusti, Andrea; Pinto, Valeria; Forni, Gian Luca; Pilotto, Alberto

    2016-03-01

    Beta-Thalassemia-associated osteoporosis is a multifactorial and complex condition. Different acquired and genetic factors are involved in its pathogenesis. These factors produce an imbalance in bone remodeling by inhibiting osteoblast activity and increasing osteoclast function, leading to bone loss and increased fracture risk. The management of patients presenting with thalassemia-associated osteoporosis should consist of the implementation of general measures and the prescription of a specific pharmacological agent, with the aim of reducing fracture risk and preventing disability and deterioration of quality of life. General measures include control of anemia, adequate chelation therapy, healthy nutrition and lifestyle, regular exercise, adequate management of comorbid conditions, hormone replacement therapy in patients with hypogonadism, and vitamin D supplementation/therapy. Among the pharmacological agents currently available for the management of osteoporosis in postmenopausal women and men, bisphosphonates have been shown to improve bone mineral density, to reduce bone turnover, and to decrease bone/back pain in patients with thalassemia-associated osteoporosis, with a good profile of safety and tolerability. On the other hand, there are limited experiences with other pharmacological agents (e.g., denosumab or teriparatide). The complexity of this condition presents diagnostic and therapeutic challenges and underscores the importance of a comprehensive and multidisciplinary approach. © 2016 New York Academy of Sciences.

  11. Delayed hemolytic transfusion reaction with multiple alloantibody (Anti S, N, K and a monospecific autoanti-JK b in intermediate β-thalassemia patient in Tabriz

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    Roya Dolatkhah

    2013-01-01

    Full Text Available It appears that delayed hemolytic transfusion reactions may occur several days after the administration of donor red cells is true even though they have been shown to be compatible in cross match tests by the antiglobulin technique. A specific case was observed in our center, which confirms the fact. The patient was a 37-year-old male suffering from intermediate β-thalassemia. He had a history of two previous transfusions, with unknown transfusion reaction. In the last transfusion, laboratory data showed: Hb 7.8 g/dL and Hematocrit (Hct 24.2%. The patient received two units of cross matched, compatible concentrated red blood cells (RBCs. After eight days a severe reaction was observed with clinical evidence of tachycardia, fatigue, fever, back pain, chest discomfort, jaundice, nausea and anorexia. Accordingly delayed hemolytic transfusion reaction was suspected, and anti-RBC antibodies were tested. Laboratory tests revealed the presence of three alloantibodies: Anti-N, anti-S, anti-K, and a monospecific autoanti-JK b .

  12. Mutation spectrum of beta-thalassemia among carriers in Birjand and Amirabad village

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    Nasrin Zandi Dashtebayaz

    2016-04-01

    Full Text Available Background and Aim: Thalassemia is considered as the most important monogenic disorders around the world. So far, about 60 mutations of this type have been reported in Iranian patients. Comparison between different provinces of the country reveals that the dispersion of the mutations is significantly various with respect to their types and frequencies. The current study aimed at assessing prevalent molecular mutations in β Thalassemia carriers in Birjand  and Amirabad at the suburb of the city. Materials and Methods: In this descriptive in-vitro study, 34 carriers (15 females and 19 males, who had been identified through marriage screening tests at the health centers in the South Khorasan province were assessed. After obtaining written informed consent of the subjects and completing the respective questionnaires, 2 cc of intravenous blood sample from each subject were collected into EDTA tubes. Salting out and Arms-PCR methods were used for DNA extraction and mutation detection, respectively. Finally, the obtained data was analysed by means of SPSS software (V;19 using Fisher’s test at the significant level of P<0.05. Results: It was found that among five mutations on 68 chromosomes,  IVS 1-5 mutation with 47.1% frequency was the highest; and the mutations of Codon, Fr 8/9 , IVS II-1 5 , and Codon 37/38/39 had the frequency of 17.6%, 8.8%, 5.9% ,and 5.9% respectively. Out of the mutations, 14.7 % .remained undetermined. Conclusion: The mutation patterns obtained in Birjand reveal an outstanding difference with the state of affairs in the north and west of IRAN..High frequency of consanguity marriages between thalassemia carrier individuals indicates the potential reason behind increasing the number of patients with major thalassemia.

  13. Molecular analysis of β-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil.

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    Fernandes, Andrea Cristina; Shimmoto, Marily Maria Azevedo; Furuzawa, Gilberto Koiti; Vicari, Perla; Figueiredo, Maria Stella

    2011-01-01

    The various clinical phenotypes in β-thalassemias have stimulated the study of genetic factors that could modify the manifestations of these diseases. We examined 21 patients with β-thalassemia (β-thal) in order to identify some genetic modifying factors: β-thalassemia mutations, HBG2:g.-158C>T polymorphism, α-globin gene deletions and (AT)xNz(AT)y motif within the hypersensitive site 2-locus control region (HS2-LCR). In the 42 alleles analyzed, the most frequent mutations observed were HBB:c.92+6T>C (30.9%), HBB:c.118C>T (16.7%), HBB:c.93-21G>A (11.9%) and HBB:c.92+1G>A (4.8%); this finding is in accordance with previous data of the Brazilian population. The other genetic factors analyzed showed no relation with the severity of the disease. For the first time in Brazil, we report HBB:c.93-2A>G and HBB:c.114G>A mutations on the β-globin gene, both in a heterozygous state. This is also the first study to analyze the HS2-LCR in β-thalassemic individuals in the Brazilian population.

  14. Extraosseous radiotracer uptake on bone scan in beta-thalassemia: report of one case; Fixation extraosseuse du radiotraceur lors de la realisation d'une scintigraphie du squelette chez un patient atteint de beta-thalassemie: a propos d'un cas

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    Guezguez, M.; Nouira, M.; Sfar, R.; Chatti, K.; Ben Fradj, M.; Ben Ali, K.; Ajmi, S.; Essabbah, H. [CHU Sahloul, Service de Medecine Nucleaire, Sousse (Tunisia); Zrour, S. [EPS F. Bourguiba, Service de Rhumatologie, Monastir (Tunisia)

    2009-10-15

    Red blood cell transfusion, main therapeutic modality of beta-thalassemia, leads to iron overload which may perturb several metabolic ways. The aim of this paper is to illustrate the uptake abnormalities observed on bone scan of thalassaemic patients and to discuss mechanisms of extraosseous accumulation of the radiopharmaceutical in this pathology. We report a 16-year-old child suffering from beta-thalassemia major undergoing transfusion therapy. A bone scan was indicated to look for osseous infection. This study revealed a little skeletal uptake and abnormal liver, splenic and renal accumulation. A repeat bone scan, performed three weeks later showed a better skeletal uptake which enabled the discovery of focal abnormalities and made the diagnostic easier. The effect of iron overload on radiopharmaceuticals uptake in bone scan is known since 1975. Dissociation of {sup 99m}Tc from the carrier ligand due to the presence of iron excess seems the most plausible hypothesis. Free {sup 99m}Tc can be bound to other tissular substrates which can explain extraosseous uptake. The normally available pool for bone is reduced and then the skeletal uptake decreased. This report limits considerably the sensitivity of the bone scan. A well-led iron chelation and eventually the use of diuretic drug may guarantee a better quality of bone scan images. (authors)

  15. Fetal globin induction--can it cure beta thalassemia?

    Science.gov (United States)

    Perrine, Susan P

    2005-01-01

    The beta thalassemias are one of a few medical conditions in which reactivation of a gene product that is expressed during fetal life can functionally replace a deficiency of essential proteins expressed at a later developmental stage. The fetal globin genes are present and normally integrated in hematopoietic stem cells, and at least one fetal gene appears accessible for reactivation, particularly in beta degrees thalassemia. However, rapid cellular apoptosis from alpha globin chain precipitation, and relatively low levels of endogenous erythropoietin (EPO) in some beta(+) thalassemia patients contribute to the anemia in beta thalassemia syndromes. In clinical trials, three classes of therapeutics have demonstrated proof-of-principle of this approach by raising total hemoglobin levels by 1-4 g/dL above baseline in thalassemia patients: EPO preparations, short chain fatty acid derivatives (SCFADs), and chemotherapeutic agents. Although thalassemic erythrocytes survive only for a few days, the magnitude of these responses is similar to those induced by rhu-EPO in anemic conditions of normal erythrocyte survival. New oral therapeutic candidates, which stimulate both fetal globin gene expression and erythropoiesis, and combinations of therapeutics with complementary molecular actions now make this gene-reactivation approach feasible to produce transfusion independence in many patients. Development of the candidate therapeutics is hindered largely by costs of drug development for an orphan patient population.

  16. Iron chelation therapy in Upper Egyptian transfusion-dependent pediatric homozygous beta-thalassemia major: impact on serum L-carnitine/free fatty acids, osteoprotegerin/the soluble receptor activator of nuclear factor-kappabeta ligand systems, and bone mineral density.

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    Hamed, Enas A; Mohamed, Nagwa A; El-Metwally, Tarek H; Kamal, Manal M

    2010-05-01

    Bone disease in beta-thalassemia major (betaTM) remains poorly understood. Receptor activator of nuclear factor-kappabeta ligand (RANKL) regulates osteoclast formation and function. RANKL activity is balanced by interaction with its receptor (RANK) and binding to osteoprotegerin (OPG). L-Carnitine (LC) enhances osteoblastic activity by furnishing fuel. This study hypothesized that abnormal bone metabolism in betaTM involves imbalanced RANKL/OPG and LC/free fatty acids (FFAs) metabolism. Sixty-nine transfusion-dependent betaTM patients and 15 healthy controls were enrolled. One group of patients (n=34) received desferrioxamine (DFO) and the other (n=35) did not. Serum OPG, soluble RANKL (sRANKL), FFAs, LC [total LC (TC), free LC (FC), and esterified LC (EC)], calcium, and inorganic phosphate were measured by specific immuno and colorimetric assays; bone mineral density was examined by dual x-ray absorptiometry. Patients showed lower levels of OPG, TC, FC, EC and higher levels of sRANKL, sRANKL/OPG ratio, and FFAs than controls. Patients on DFO showed lower levels of OPG, TC, FC and higher levels of sRANKL, sRANKL/OPG ratio, and FFAs than those without chelation. In patients, sRANKL correlated negatively with TC and OPG and FC correlated positively with OPG and negatively with sRANKL, sRANKL/OPG ratio, and FFAs. In conclusion, altered bone metabolism owing to imbalanced osteoclastic bone resorption versus constructive osteoblastic activities in betaTM pediatric patients could be due to abnormal sRANKL-OPG and LC-FFAs systems that were worsened by DFO.

  17. Prevalence and hematological profile of β-thalassemia and sickle cell anemia in four communities of Surat city

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    Bhukhanvala, Dipal S.; Sorathiya, Smita M.; Avani P. Shah; Patel, Ankur G.; Gupte, Snehalata C.

    2012-01-01

    Background: From the data of transfusion-dependent thalassemia major cases, the 4 communities (Muslim, Dhodia Patel, Kachhiya Patel, and Modh Bania) with high prevalence but not studied methodically were selected. Aim: The aim of this study is to find prevalence of β-thalassemia and sickle cell anemia in 4 selected communities and also to evaluate hematological profile in them. Materials and Methods: For screening of β-thalassemia trait (BTT) and sickle cell trait (SCT), all samples w...

  18. Genetic Variants at BCL11A and HBS1L-MYB loci Influence Hb F Levels in Chinese Zhuang β-Thalassemia Intermedia Patients.

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    Lai, Yunli; Chen, Yun; Chen, Biyan; Zheng, Haiyang; Yi, Sheng; Li, Guojian; Wei, Hongwei; He, Sheng; Zheng, Chenguang

    2016-11-01

    Increased Hb F levels can ameliorate the symptoms of β-thalassemia (β-thal). Due to the genetic heterogenicity of β-thal, the relationship between genetic variants in modifier genes and Hb F level has been studied in different populations. The Chinese Zhuang has the second largest population in China and has 6.78% prevalence of β-thal. However, the effects of these single nucleotide polymorphism (SNP) variants on the Hb F levels of β-thal intermedia (β-TI) patients in this population have not been reported. To explore the association between modifier loci (β-globin gene cluster, HBS1L-MYB intergenic region and BCL11A) and Hb F levels in Chinese Zhuang β-TI patients, 96 unrelated β-TI patients (50 males and 46 females) with different Hb F levels were recruited and genotyped by mass spectrometry. A total of 13 SNPs were confirmed to be in a significant relationship with Hb F levels in this population. Of these, high-risk genotypes of six Hb F-associated SNPs, rs9376090, rs7776054, rs9399137, rs9389268, rs9402685 in the HBS1L-MYB intergenic region and rs189984760 in the BCL11A locus, showed association with high Hb F levels, especially for SNPs in linkage disequilibrium. One novel Hb F-associated SNP, rs189984760, was identified in our study. Our findings will be of valuable reference for correlation between modifier genes and Hb F in Chinese Zhuang populations and may lead to better understand the modifying mechanisms for β-thal.

  19. Genetic predisposition to β-thalassemia and sickle cell anemia in Turkey: a molecular diagnostic approach.

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    Basak, A Nazli; Tuzmen, Sukru

    2011-01-01

    The thalassemia syndromes are a diverse group of inherited disorders that can be characterized according to their insufficient synthesis or absent production of one or more of the globin chains. They are classified in to α, β, γ, δβ, δ, and εγδβ thalassemias depending on the globin chain(s) affected. The β-thalassemias refer to that group of inherited hemoglobin disorders, which are characterized by a reduced synthesis (β(+)-thalassemia) or absence (β(0)-thalassemia) of beta globin (β-globin) chain production (1). Though known as single-gene disorders, hemoglobinopathies such as β-thalassemia and sickle cell anemia are far from being fully resolved in terms of cure, considering the less complex nature of the beta globin (β-globin) gene family compared to more complex multifactorial genetic disorders such as cancer. Currently, there are no definitive therapeutic options for patients with β-thalassemia and sickle cell anemia, and new insights into the pathogenesis of these devastating diseases are urgently needed. Here we address in detail the overall picture utilizing molecular diagnostic approaches that contribute to unraveling the population-specific mutational analysis of β-globin gene. We also present approaches for molecular diagnostic strategies that are applicable to β-thalassemia, sickle cell anemia, and other genetic disorders.

  20. Is beta-thalassemia trait a protective factor against ischemic cerebrovascular accidents?

    Science.gov (United States)

    Karimi, Mehran; Borhani Haghighi, Afshin; Yazdani, Maryam; Raisi, Hamideh; Giti, Rahil; Namazee, Mohammad Reza

    2008-01-01

    In this research, we sought to determine the association between beta-thalassemia trait and ischemic cerebrovascular accident (CVA). In acase-control study, 148 patients with thromboembolic cerebrovascular events were evaluated for the presence of hypertension, diabetes mellitus, hyperlipidemia, and beta-thalassemia trait. A total of 156 age- and sex-matched patients with no cardiac or cerebrovascular diseases, serving as the control group, were also investigated for the above-mentioned risk factors. We found that 6.1% of patients with ischemic CVA and 12.2% of the control group had beta-thalassemia trait (P = .066). In male patients, the negative association between ischemic CVA and presence of beta-thalassemia trait was significant (P = .008). In patients, the prevalence of hypertension was also significantly different between those with and without beta-thalassemia trait (P = .01); those with beta-thalassemia trait had a lower mean blood pressure than those without the trait. beta-Thalassemia trait may have a protective effect against ischemic CVA that might be caused by the lower arterial blood pressure observed in those with this trait.

  1. Oxidative stress and antioxidant status in beta-thalassemia heterozygotes

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    Luciana de Souza Ondei

    2013-01-01

    Full Text Available Background: Several studies have evaluated the oxidant and antioxidant status of thalassemia patients but most focused mainly on the severe and intermediate states of the disease. Moreover, the oxidative status has not been evaluated for the different beta-thalassemia mutations. Objective: To evaluate lipid peroxidation and Trolox equivalent antioxidant capacity in relation to serum iron and ferritin in beta thalassemia resulting from two different mutations (CD39 and IVS-I-110 compared to individuals without beta-thalassemia. Methods: One hundred and thirty subjects were studied, including 49 who were heterozygous for beta-thalassemia and 81 controls. Blood samples were subjected to screening tests for hemoglobin. Allele-specific polymerase chain reaction was used to confirm mutations for beta-thalassemia, an analysis of thiobarbituric acid reactive species was used to determine lipid peroxidation, and Trolox equivalent antioxidant capacity evaluations were performed. The heterozygous beta-thalassemia group was also evaluated for serum iron and ferritin status. Results: Thiobarbituric acid reactive species (486.24 ± 119.64 ng/mL and Trolox equivalent antioxidant capacity values (2.23 ± 0.11 mM/L were higher in beta-thalassemia heterozygotes compared to controls (260.86 ± 92.40 ng/mL and 2.12 ± 0.10 mM/L, respectively; p-value < 0.01. Increased thiobarbituric acid reactive species values were observed in subjects with the CD39 mutation compared with those with the IVS-I-110 mutation (529.94 ± 115.60 ng/mL and 453.39 ± 121.10 ng/mL, respectively; p-value = 0.04. However, average Trolox equivalent antioxidant capacity values were similar for both mutations (2.20 ± 0.08 mM/L and 2.23 ± 0.12 mM/L, respectively; p-value = 0.39. There was no influence of serum iron and ferritin levels on thiobarbituric acid reactive species and Trolox equivalent antioxidant capacity values. Conclusion: This study shows an increase of oxidative stress and

  2. Extramedullary Hematopoiesis in a Man With β-Thalassemia: An Uncommon Cause of an Adrenal Mass

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    Zeighami

    2015-06-01

    Full Text Available Introduction Extramedullary hematopoiesis (EMH commonly occurs in the spleen, liver and lymph nodes. Rare cases of EMH in the adrenal gland have been reported. Case Presentation We report the case of a 33-year-old man from the South of Iran suffering from major β-thalassemia, who underwent open left adrenalectomy and the histopathology revealed EMH. Conclusions In patients in which a history of hematologic disorders exists, careful imaging and hormonal assay should be done to certify a diagnosis of EMH. However, the surgical management becomes inevitable in certain cases.

  3. STUDY OF SERUM HAPTOGLOBIN LEVEL AND ITS RELATION TO ERYTHROPOIETIC ACTIVITY IN BETA THALASSEMIA CHILDREN .

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    Seham Ragab

    2015-02-01

    Full Text Available Background  :Serum haptoglobin (Hp is a reliable marker for hemolysis regardless the inflammatory state.  Objective: We investigated the possible relation between Hp depletion and hemolysis severity, hepatitis C virus (HCV infection and iron load in β-thalassemia children. Methods: Twenty  two β-thalassemia major (TM ,20 β-thalassemia  intermedia (TI children with 20 age and sex matched healthy controls were involved. Pre-transfusion hemoglobin level was considered . Serum ferritin , Hp  and transferrin receptor  levels (sTfR  (by ELISA , alanine aminotransferase (ALT and  aspartate aminotransferase (AST  (by colorimetric method were assayed. Markers of hepatitis C virus  (HCV  were done by PCR. Results:  The mean Hp levels among the studied groups were as follows; 8.02 ± 0.93 (mg/dl , 8.6 ±0.72 (mg/dl  and 122  ± 18.5(mg/dl   for TM ,TI and the controls respectively . Both patient groups had significantly lower Hp level compared to the controls (P<0.0001  with significant lower level in TM compared to TI  children ( P= 0.034  .Significant inverse correlations were  found between serum Hp and sTfR levels in thalassemia children combined and in each group (TM and TI as well as among HCV infected children. STfR   was the only significant independent predictor for  serum Hp level (t= -5.585 , P<0.0001 . Among  HCV infected patients , no significant correlation was found between serum Hp and serum transaminases  .Conclusion:  Serum Hp depletion in thalassemia had significant relation to disease severity and correlated   well with their erythropoietic activity, as assessed by the measurement of  sTfR without significant relation  HCV infection . Large sample  multicenter studies are  recommended.

  4. Thalassemia in the United Arab Emirates: Why it can be prevented but not eradicated.

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    Sehjeong Kim

    Full Text Available Thalassemia is a genetic blood disorder that causes abnormal hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen and is made of two proteins from four α-globin genes and two β-globin genes. A defect in one or more of these genes causes thalassemia. The treatment of thalassemia mostly depends on life-long blood transfusions and removal of excessive iron from the blood stream. Such tremendous blood consumption puts pressure on the national blood stock in many countries. In particular, in the United Arab Emirates (UAE, various forms of thalassemia prevention have been used and hence, the substantial reduction of the thalassemia major population has been achieved. However, the thalassemia carrier population still remains high, which leads to the potential increase in the thalassemia major population through carrier-carrier marriages. In this work, we investigate the long-term impact and efficacy of thalassemia prevention measures via mathematical modeling at a population level. To our best knowledge, this type of assessment has not been done before and there is no mathematical model that has investigated such a problem for thalassemia or any blood disorders at a population level. By using UAE data, we perform numerical simulations of our model and conduct sensitivity analysis of parameter values to see which parameter values affect most the dynamics of our model. We discover that the prevention measures can contribute to reduce the prevalence of the disease only in the short term but not eradicate the disease in the long term.

  5. Study of glycolytic intermediates in hereditary elliptocytosis with thalassemia

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    Pavri Roshan

    1977-01-01

    Full Text Available Glycolytic intermediates like ATP, DPG and GSH have been studied in a family with. hereditary elliptocytosis and thalassemia. Results indicate a fall in ATP with a concomitant rise in DPG in the Patient. Findings are discussed in relation to other data.

  6. IRON CHELATION THERAPY IN THALASSEMIA SYNDROMES

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    Paolo Cianciulli

    2009-06-01

    Full Text Available Transfusional hemosiderosis is a frequent complication in patients with transfusion dependent chronic diseases such as  thalassemias and severe type of sickle cell diseases. As there are no physiological mechanisms to excrete the iron contained in transfused red cells (1 unit of blood contains approximately 200 mg of iron the excess of iron is stored in various organs. Cardiomyopathy is the most severe complication covering more than 70% of the causes of death of thalassemic patients. Although the current reference standard iron chelator deferoxamine (DFO has been used clinically for over four decades, its effectiveness is limited by a demanding therapeutic regimen that leads to poor compliance. Despite poor compliance, because of the inconvenience of subcutaneous infusion, DFO improved considerably the survival and quality of life of patients with thalassemia. Deferiprone since 1998 and Deferasirox since 2005 were licensed for clinical use. The oral chelators have a better compliance because of oral use, a comparable efficacy to DFO in iron excretion and probably a better penetration to myocardial cells. Considerable increase in iron excretion was documented with combination therapy of DFO and Deferiprone. The proper use of the three chelators will improve the prevention and treatment of iron overload, it will reduce  complications, and improve survival and quality of life of transfused patients

  7. Exercise for patients with major depression

    DEFF Research Database (Denmark)

    Krogh, Jesper; Speyer, Helene; Gluud, Christian

    2015-01-01

    BACKGROUND: The lifetime prevalence of major depression is estimated to affect 17% of the population and is considered the second largest health-care problem globally in terms of the number of years lived with disability. The effects of most antidepressant treatments are poor; therefore, exercise...... has been assessed in a number of randomized clinical trials. A number of reviews have previously analyzed these trials; however, none of these reviews have addresses the effect of exercise for adults diagnosed with major depression. METHODS/DESIGN: The objective of this systematic review...... is to investigate the beneficial and harmful effects of exercise, in terms of severity of depression, lack of remission, suicide, and so on, compared with treatment as usual with or without co-interventions in randomized clinical trials involving adults with a clinical diagnosis of major depression. A meta...

  8. Influence of genetic polymorphisms and mutations in the cardiac pathology of iron overload in thalassemia and sickle cell anemia patients: a retrospective study

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    Veronica Agrigento

    2012-11-01

    Full Text Available Cardiac disease in thalassemia is determined by the accumulation of iron in the tissue. Genetic factors could influence the severity and the rapidity of the modifications of the cardiac tissue. Mutations or polymorphisms of genes have already been described as being implicated in cardiac disease. In particular, we studied the polymorphisms C1091T in the Connexin 37 gene (CX 37, 4G -668 5G in the Plasminogen Activator Inhibitor-1 gene (PAI 1 and 5A-1171 6A in the Stromelysin-1 gene (SL in 193 randomly selected patients affected by hemoglobinopathies and 100 normal subjects randomly selected from the general population. A retrospective analysis based on history, clinical data and imaging studies was carried out to assess the presence and type of heart disease. The results of our study do not demonstrate a close association between polymorphism in these candidate genes and cardiac disease, and in particular with myocardial infarction in a cohort of Sicilian patients affected by hemoglobinopathies. 地中海贫血心脏病的关键诱因是组织中的铁沉积。遗传因子可能影响心脏组织修复的严重程度和速度。基因突变或基因多态性与心脏病有关。尤其是,我们研究了193名随机选择的血红蛋白病患者以及从普通人群中随机选择的100名正常受试者的连接蛋白37基因(CX37)的C1091T、纤溶酶原激活物抑制剂-1基因(PAI1)的4G -668 5G 和基质分解素-1基因(SL)的5A-1171 6A等多态性。根据病史、临床资料和影像研究进行回顾性分析,以评估心脏病的存在情况和类型。我们的研究结果并没有表明这些候选基因的多态性和心脏疾病之间存在密切联系,尤其是与一组西西里岛血红蛋白病患者的心肌梗塞存在密切联系。

  9. Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients

    DEFF Research Database (Denmark)

    Chondrou, Vasiliki; Kolovos, Petros; Sgourou, Argyro

    2017-01-01

    -transfusion-dependent β-thalassemia patients, β-thalassemia major patients, compound heterozygous sickle cell disease/β-thalassemia patients receiving hydroxyurea as fetal hemoglobin augmentation treatment, and non-thalassemic individuals indicated that VEGFA genomic variants were associated with disease severity in β...... from whole transcriptome analysis of erythroid cells, isolated from erythroid tissues at various developmental stages in an effort to identify distinct molecular signatures of each erythroid tissue. Results: From our in-depth data analysis, pathway analysis, and text mining, we opted to focus...

  10. Pulmonary function abnormalities in non-splenectomized and splenectomized adult hemoglobin E/β-thalassemia patients and their correlation with pulmonary hypertension

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    Prapaporn Pornsuriyasak

    2013-11-01

    Full Text Available The effect of splenectomy on pulmonary function test (PFT and pulmonary hypertension (PH in thalassemia remains unclear. We aimed to investigate PFT and their association with PH in patients with hemoglobin E/β-thalassemia stratified by their splenic status. Thirteen splenectomized patients (SP and 12 non-splenectomized patients (NSP were compared regarding to the PFT abnormalities and PH (mean pulmonary artery pressure from right-heart catheterization ≥25 mmHg or estimated systolic pulmonary artery pressure from echocardiography ≥40 mmHg. Eleven (84% SP and 9 (75% NSP had restrictive impairment (RI. Of these, more patients having severe RI in SP than in NSP (8 vs 2, P=0.035. FVC and PaO2 were lower in SP than in NSP (66±15% vs 77±12%, P=0.043, and 79.38±1.6 mmHg vs 98.83±6.2 mmHg, P<0.001, respectively. Residual volume was higher in SP than in NSP (78±17% vs 64±15%, P=0.036. Seven (54% SP who developed PH had a longer time interval between splenectomy and the onset of PH than those who did not (17±4.9 years vs 9.8±6.1 years, P=0.04. In conclusion, greater severity of extrapulmonary restrictive impairment and hypoxemia were more common in SP. These patients developed PH as a late complication unrelated to hypoxemia and PFT parameters.   因脾脏切除而对肺功能测试(PFT以及地中海贫血症中肺动脉高压 (PH情况造成的影响,尚不明确。我们旨在通过对血红蛋白E/β-地中海贫血症的患者进行脾脏位置的分级来探查肺功能测试(PFT和肺动脉高压 (PH之间的相关性。十三位脾切除患者(SP和十二位未切除脾脏的患者(NSP参与了有关肺功能测试(PFT和肺动脉高压 (PH(肺动脉高压是指从右心房导管术测量的肺动脉平均压力≥25 mmHg或者由超声心动图所估计的收缩期的肺动脉平均压力≥40 mmHg的对比检查。十一位脾切除患者(SP(84%和九位未切除脾脏的患者(NSP(75%显现出了限制性的障碍 (RI。毫

  11. Comparison of Blood Transfusion Plus Chelation Therapy and Bone Marrow Transplantation in Patients with β-Thalassemia: Application of SF-36, EQ-5D, and Visual Analogue Scale Measures

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    Mehdi Javanbakht

    2015-11-01

    Full Text Available Background: β-Thalassemia is a prevalent genetic disease in Mediterranean countries. The most common treatments for this disease are blood transfusion plus iron chelation (BTIC therapy and bone marrow transplantation (BMT. Patients using these procedures experience different health-related quality of life (HRQoL. The purpose of the present study was to measure HRQoL in these patients using 2 different multiattribute quality of life (QoL scales. Methods: In this cross-sectional study, data were gathered using 3 instruments: a socio-demographic questionnaire, EQ-5D, and SF-36. A total of 196 patients with β-thalassemia were randomly selected from 2 hospitals in Shiraz (Southern Iran. Data were analyzed using logistic regression and multiple regression models to identify factors that affect the patients’ HRQoL. Results: The average EQ-5D index and EQ visual analog scale (VAS scores were 0.86 (95% CI: 0.83–0.89 and 71.85 (95% CI: 69.13–74.58, respectively. Patients with BMT reported significantly higher EQ VAS scores (83.27 vs 68.55, respectively. The results showed that patients who lived in rural area and patients with BMT reported higher EQ VAS scores (rural; β=10.25, P=.006 and BMT; β=11.88, P=.000. As well, SF-36 between 2 groups of patients were statistically significant in physical component scale (PCS. Conclusion: Patients in the BMT group experienced higher HRQoL in both physical and mental aspects compared to those in the BTIC group. More studies are needed to assess the relative cost-effectiveness of these methods in developing countries.

  12. New Insights on β-Thalassemia in the Palestinian Population of Gaza: High Frequency and Milder Phenotype Among Homozygous IVS-I-1 (HBB: c.92+1G>A) Patients with High Levels of Hb F.

    Science.gov (United States)

    Ghoti, Hussam; Fibach, Eitan; Rachmilewitz, Eliezer A; Jeadi, Hisham; Filon, Dvora

    2017-03-01

    β-Thalassemia (β-thal) is a very common disease in the Palestinian population of the Gaza Strip. We studied their mutation frequency and clinical features. Thirteen different mutations were identified. The most common mutation was IVS-I-1 (G>A) (HBB: c.92+1G>A), which was prevalent in 31.5% of the thalassemia alleles studied. The IVS-I-110 (G>A) (HBB: c.93-21G>A) mutation was found in 25.0% of the alleles. Homozygotes for the IVS-I-1 mutation had higher mean hemoglobin (Hb) levels, required less blood transfusions, and lower transferrin saturation than the homozygotes for the IVS-I-110 mutation. This milder phenotype was, most likely, the result of the persistent production of Hb F; it was 9-fold higher in absolute terms (g/dL) and 7.7-fold higher in relative terms (percentage of total Hb). About half of our IVS-I-1 patients carried the XmnI polymorphism, which is known to be associated with elevated Hb F levels.

  13. IRON METABOLISM IN THALASSEMIA AND SICKLE CELL DISEASE

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    Raffaella Mariani

    2009-10-01

    Full Text Available There are two main mechanisms by which iron overload develops in thalassemias: increased iron absorption due to ineffective erythropoiesis and blood transfusions. In nontransfused patients with severe thalassemia, abnormal dietary iron absorption increases body iron burden between 2 and 5 g per year. If regular transfusions are required, this doubles the rate of iron accumulation leading to earlier massive iron overload and iron-related damage. Iron metabolism largely differs between thalassemias and sickle cell disease, but chronic transfusion therapy partially normalize many of the disparities between the diseases, making iron overload an important issue to be considered in the management of patients with sickle cell disease too. The present review summarizes the actual knowledge on the regulatory pathways of iron homeostasis. In particular, the data presented indicate the inextricably link between erythropoiesis and iron metabolism and the key role of hepcidin in coordinating iron procurement according to erythropoietic requirement. The role of erythropoietin, hypoxia, erythroid-dependent soluble factors and iron in regulating hepcidin transcription are discussed as well as differences and similarities in iron homeostasis between thalassemia syndromes and sickle cell disease.

  14. Successful treatment of murine beta-thalassemia using in vivo selection of genetically modified, drug-resistant hematopoietic stem cells.

    Science.gov (United States)

    Persons, Derek A; Allay, Esther R; Sawai, Nobukuni; Hargrove, Phillip W; Brent, Thomas P; Hanawa, Hideki; Nienhuis, Arthur W; Sorrentino, Brian P

    2003-07-15

    Successful gene therapy of beta-thalassemia will require replacement of the abnormal erythroid compartment with erythropoiesis derived from genetically corrected, autologous hematopoietic stem cells (HSCs). However, currently attainable gene transfer efficiencies into human HSCs are unlikely to yield sufficient numbers of corrected cells for a clinical benefit. Here, using a murine model of beta-thalassemia, we demonstrate for the first time that selective enrichment in vivo of transplanted, drug-resistant HSCs can be used therapeutically and may therefore be a useful approach to overcome limiting gene transfer. We used an oncoretroviral vector to transfer a methylguanine methyltransferase (MGMT) drug-resistance gene into normal bone marrow cells. These cells were transplanted into beta-thalassemic mice given nonmyeloablative pretransplantation conditioning with temozolomide (TMZ) and O6-benzylguanine (BG). A majority of mice receiving 2 additional courses of TMZ/BG demonstrated in vivo selection of the drug-resistant cells and amelioration of anemia, compared with untreated control animals. These results were extended using a novel gamma-globin/MGMT dual gene lentiviral vector. Following drug treatment, normal mice that received transduced cells had an average 67-fold increase in gamma-globin expressing red cells. These studies demonstrate that MGMT-based in vivo selection may be useful to increase genetically corrected cells to therapeutic levels in patients with beta-thalassemia.

  15. [Analysis of the risk factors for hemorrhagic cystitis after allogeneic hematopoietic stem cell transplantation for beta-thalassemia in children].

    Science.gov (United States)

    Yin, Wen-fang; Pei, Fu-yu; Wu, Xue-dong; Liu, Si-xi; He, Yue-lin; Liao, Jian-yun; Li, Na; Chen, Ge-yu; Feng, Xiao-qing; Li, Chun-fu

    2010-04-01

    To analyze the risk factors of hemorrhagic cystitis after allogeneic hematopoietic stem cell transplantation for beta-thalassemia in children. The clinical records of 30 children with beta-thalassemia undergoing allogeneic hematopoietic stem cell transplantation between December, 2008 and November, 2009 were analyzed. Hemorrhagic cystitis occurred in 8 of the 33 patients with an incidence of 24.24%, including 1 with grade I, 6 with grade II and 1 with grade III hemorrhagic cystitis. The median time of hemorrhagic cystitis onset was 22.9 days (range 6-35 days) and the median duration was 11.9 days(range 3-27 days). Univariate analysis indicated that the different types of transplantation and acute graft-versus-host disease affect the occurrence of hemorrhagic cystitis. The children with Allo-PBSCT had higher incidence than those receiving Allo-PBSCT+Allo-UBT and Allo-BMT (Por=6 years had obviously higher incidence of hemorrhagic cystitis than those at younger ages. Age is the major factor that affects the occurrence of hemorrhagic cystitis in children undergoing allogeneic hematopoietic stem cell transplantation for beta-thalassemia.

  16. A new index to discriminate between iron deficiency anemia and thalassemia trait

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    Januária F. Matos

    Full Text Available ABSTRACT BACKGROUND: The most common microcytic and hypochromic anemias are iron deficiency anemia and thalassemia trait. Several indices to discriminate iron deficiency anemia from thalassemia trait have been proposed as simple diagnostic tools. However, some of the best discriminative indices use parameters in the formulas that are only measured in modern counters and are not always available in small laboratories. The development of an index with good diagnostic accuracy based only on parameters derived from the blood cell count obtained using simple counters would be useful in the clinical routine. Thus, the aim of this study was to develop and validate a discriminative index to differentiate iron deficiency anemia from thalassemia trait. METHODS: To develop and to validate the new formula, blood count data from 106 (thalassemia trait: 23 and iron deficiency: 83 and 185 patients (thalassemia trait: 30 and iron deficiency: 155 were used, respectively. Iron deficiency, ß-thalassemia trait and a-thalassemia trait were confirmed by gold standard tests (low serum ferritin for iron deficiency anemia, HbA2 > 3.5% for ß-thalassemia trait and using molecular biology for the a-thalassemia trait. RESULTS: The sensitivity, specificity, efficiency, Youden's Index, area under receiver operating characteristic curve and Kappa coefficient of the new formula, called the Matos & Carvalho Index were 99.3%, 76.7%, 95.7%, 76.0, 0.95 and 0.83, respectively. CONCLUSION: The performance of this index was excellent with the advantage of being solely dependent on the mean corpuscular hemoglobin concentration and red blood cell count obtained from simple automatic counters and thus may be of great value in underdeveloped and developing countries.

  17. Interaction of malaria with a common form of severe thalassemia in an Asian population.

    Science.gov (United States)

    O'Donnell, A; Premawardhena, A; Arambepola, M; Samaranayake, R; Allen, S J; Peto, T E A; Fisher, C A; Cook, J; Corran, P H; Olivieri, Nancy F; Weatherall, D J

    2009-11-03

    In many Asian populations, the commonest form of severe thalassemia results from the coinheritance of HbE and beta thalassemia. The management of this disease is particularly difficult because of its extreme clinical diversity; although some genetic and adaptive factors have been identified as phenotypic modifiers, the reasons remain unclear. Because the role of the environment in the course of severe thalassemia has been neglected completely and because malaria due to both Plasmodium falciparum and Plasmodium vivax has been prevalent in Sri Lanka, we carried out a pilot study of patients with HbE beta thalassemia that showed high frequencies of antibodies to both parasite species and that 28.6% of the children had DNA-based evidence of current infection with P. vivax. Malarial antibodies then were assessed in patients with HbE beta thalassemia compared with those in age-matched controls. There was a significant increase in the frequency of antibodies in the thalassemic patients, particularly against P. vivax and in young children. There was also a higher frequency in those who had been splenectomized compared with those with intact spleens, although in the latter it was still higher than that in the controls. The thalassemic patients showed significant correlations between malaria antibody status and phenotype. Patients with HbE beta thalassemia may be more prone to malaria, particularly P. vivax, which is reflected in their clinical severity. Because P. vivax malaria is widespread in Asia, further studies of its interaction with HbE beta thalassemia and related diseases are required urgently as a part of ongoing thalassemia control programs.

  18. Pola Penyakit Infeksi pada Thalassemia

    OpenAIRE

    Mururul Aisyi; Alan R Tumbelaka

    2016-01-01

    Pasien thalassemia rentan terhadap infeksi akibat faktor penyakitnya maupun akibat pengobatan. Kelebihan besi yang terjadi akibat transfusi berulang mempengaruhi sistim imun, menekan aksi kemotaksis fagositosis, mikrobiosidal leukosit mononuklear dan polimorfonuklear. Penularan infeksi melalui transfusi seperti virus hepatitis, HIV dan CMV merupakan komplikasi transfusi yang ditakuti. Infeksi virus hepatitis yang ditularkan melalui transfusi antara lain hepatitis A, Hepatitis B...

  19. Exercise for patients with major depression

    DEFF Research Database (Denmark)

    Krogh, Jesper; Hjorthøj, Carsten; Speyer, Helene

    2017-01-01

    OBJECTIVES: To assess the benefits and harms of exercise in patients with depression. DESIGN: Systematic review DATA SOURCES: Bibliographical databases were searched until 20 June 2017. ELIGIBILITY CRITERIA AND OUTCOMES: Eligible trials were randomised clinical trials assessing the effect...... of exercise in participants diagnosed with depression. Primary outcomes were depression severity, lack of remission and serious adverse events (eg, suicide) assessed at the end of the intervention. Secondary outcomes were quality of life and adverse events such as injuries, as well as assessment of depression...... severity and lack of remission during follow-up after the intervention. RESULTS: Thirty-five trials enrolling 2498 participants were included. The effect of exercise versus control on depression severity was -0.66 standardised mean difference (SMD) (95% CI -0.86 to -0.46; p

  20. Novel therapeutic agents for HbF induction: a new era for treatment of β thalassemia?

    OpenAIRE

    Perrine, S P

    2011-01-01

    Fetal globin is endogenous, normally integrated in hematopoietic stem cells in all humans, and available for reactivation. Inducing expression of fetal globin (g-globin) gene expression to 60-70% of a globin synthesis produces β-thalassemia trait globin synthetic ratios, and has been shown to reduce anemia to mild levels which do not require regular blood transfusion. Several classes of therapeutics have induced g-globin expression in β thalassemia patients, raised total hemoglobin ...

  1. Major life events and development of major depression in Parkinson's disease patients

    DEFF Research Database (Denmark)

    Rod, Naja Hulvej; Bordelon, Y; Thompson, A

    2012-01-01

    BACKGROUND AND PURPOSE: Non-motor symptoms including depression are important features of Parkinson's disease (PD). We aim to address the relationship between major life events and depression amongst PD patients free of depressive symptoms at baseline. METHODS: New-onset PD patients from California...... were recruited in 2001-2007 and followed up for 3-4 years. The participants (n = 221) were examined by neurologists and responded to comprehensive interviews that included major life events, social support, and coping measures from validated scales. Major depression was assessed using the Structured...... Clinical Interview for the DSM-IV depression module (SCID). RESULTS: More than half of all patients had experienced major life events since diagnosed with PD, and 22 patients developed a major depression. The number of life events was associated with risk of depression in an exposure-dependent manner...

  2. Recent trends in the gene therapy of β-thalassemia

    Directory of Open Access Journals (Sweden)

    Finotti A

    2015-02-01

    Full Text Available Alessia Finotti,1–3 Laura Breda,4 Carsten W Lederer,6,7 Nicoletta Bianchi,1–3 Cristina Zuccato,1–3 Marina Kleanthous,6,7 Stefano Rivella,4,5 Roberto Gambari1–3 1Laboratory for the Development of Gene and Pharmacogenomic Therapy of Thalassaemia, Biotechnology Centre of Ferrara University, Ferrara, Italy; 2Associazione Veneta per la Lotta alla Talassemia, Rovigo, Italy; 3Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, Ferrara University, Ferrara, Italy; 4Department of Pediatrics, Division of Haematology/Oncology, Weill Cornell Medical College, New York, NY, USA; 5Department of Cell and Development Biology, Weill Cornell Medical College, New York, NY, USA; 6Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; 7Cyprus School of Molecular Medicine, Nicosia, Cyprus Abstract: The β-thalassemias are a group of hereditary hematological diseases caused by over 300 mutations of the adult β-globin gene. Together with sickle cell anemia, thalassemia syndromes are among the most impactful diseases in developing countries, in which the lack of genetic counseling and prenatal diagnosis have contributed to the maintenance of a very high frequency of these genetic diseases in the population. Gene therapy for β-thalassemia has recently seen steadily accelerating progress and has reached a crossroads in its development. Presently, data from past and ongoing clinical trials guide the design of further clinical and preclinical studies based on gene augmentation, while fundamental insights into globin switching and new technology developments have inspired the investigation of novel gene-therapy approaches. Moreover, human erythropoietic stem cells from β-thalassemia patients have been the cellular targets of choice to date whereas future gene-therapy studies might increasingly draw on induced pluripotent stem cells. Herein, we summarize the most

  3. Non-transfusion dependent thalassemia: translating evidence to guidelines

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    Afif R. Harb

    2014-12-01

    Full Text Available The thalassemias are a group of inherited disorders of hemoglobin synthesis characterized by various degrees of defective production of the α- or β-globin chains of adult hemoglobin A. Non-transfusion- dependent thalassemia (NTDT includes a group of thalassemia patients who do not require regular RBC transfusions for survival, but may require occasional transfusions due to infection or pregnancy or may require more regular transfusions later in life due to splenomegaly or other complications. Due to the rising phenomenon of global migration, this previously well-localized entity is currently spreading more and more worldwide reaching Northern America and Northern Europe. The clinical picture of NTDT is governed by the severity of the ineffective erythropoiesis and the chronic hemolytic anemia, which, in turn, lead to iron overload, hypercoagulability, and an array of clinical complications involving almost every organ system. Patients with NTDT suffer from complications that are distinct from those encountered in patients with transfusion- dependent thalassemia (TDT in addition to the complications shared by both TDT and NTDT. As a consequence, patients with NTDT deserve a care specifically tailored to their needs. In the care of patients with NTDT, aiming at a standardized yet personalized care is not an easy task especially that NTDT patients lie on a heterogeneous spectrum with a wide variability in their clinical presentation and response to therapy. Therefore, guidelines emerge as a necessity to answer the specific needs of NTDT patients and the clinicians caring for them. In this article, we summarize the complications most commonly associated with NTDT and the recommendations of the guidelines for the management of patients with NTDT, based on the best available evidence.

  4. Effect of health education on severe thalassemia prevention and control in communities in Cambodia.

    Science.gov (United States)

    Cheng, Kimhaung; Fucharoen, Supan; Sanchaisuriya, Kanokwan; Fucharoen, Goonnapa; Sanchaisuriya, Pattara; Jetsrisuparb, Arunee

    2018-01-01

    Severe thalassemia diseases are a major health problem in Southeast Asia. In Cambodia, there has never been a significant program for prevention or control of severe thalassemia. We, therefore, studied the effect of a health education program on severe thalassemia prevention and control in Phnom Penh, Cambodia. A quasi-experimental study in several communities around Phnom Penh was done. The respective intervention and control group comprised 124 and 117 people, between 18 and 40 years of age, male and female. Pre- and post-tests using a validated and reliable questionnaire were performed in the intervention group and one test was done in the control group. A health education program was organized to give important information to the intervention group and, at the end of the process, to the control group. The outcomes were evaluations of their knowledge and attitude vis-à-vis severe thalassemia prevention and control, and participating in thalassemia screening. Among participants in the intervention group, 105 (84.7%) considered undergoing blood screening vs. 65 (55.6%) in the control group ( p -value < 0.001). In the intervention group, the respective mean scores for knowledge and attitude to a prevention and control program for severe thalassemia before and after health education were 2.6 VS 6.5 ( p -value < 0.001) and 4.6 VS 6.5 ( p -value < 0.001). The intention to undergo screening was significantly higher in the intervention group than the control group. Knowledge and attitude towards prevention and control of severe thalassemia was significantly improved in the intervention group. Health education clearly heightens awareness and improves consideration of screening for prevention and control of severe thalassemia.

  5. Hypertriglyceridemia Thalassemia Syndrome: A Report of 4 Cases

    OpenAIRE

    Khera, Rachna; Singh, Meeta; Goel, Garima; Gupta, Parul; Singh, Tejinder; Dubey, A. P.

    2014-01-01

    Hypertriglyceridemia in children can be familial or acquired. Acquired forms of hypertriglyceridemia in children may be associated with several other diseases obesity, diabetes mellitus, uremia/dialysis, hypothyroidism, nephrotic syndrome, drugs etc. Hypertriglyceridemia with β-thalassemia major is an association of unknown pathogenesis which is rarely described in the literature but is important to recognize, for the prevention of complications and proper management of thalassemic children.

  6. The impact of major trauma network triage systems on patients with major burns.

    Science.gov (United States)

    Nizamoglu, Metin; O'Connor, Edmund Fitzgerald; Bache, Sarah; Theodorakopoulou, Evgenia; Sen, Sankhya; Sherren, Peter; Barnes, David; Dziewulski, Peter

    2016-12-01

    Trauma is a leading cause of death and disability worldwide. Patients presenting with severe trauma and burns benefit from specifically trained multidisciplinary teams. Regional trauma systems have shown improved outcomes for trauma patients. The aim of this study is to determine whether the development of major trauma systems have improved the management of patients with major burns. A retrospective study was performed over a four-year period reviewing all major burns in adults and children received at a regional burns centre in the UK before and after the implementation of the regional trauma systems and major trauma centres (MTC). Comparisons were drawn between three areas: (1) Patients presenting before the introduction of MTC and after the introduction of MTC. (2) Patients referred from MTC and non-MTC within the region, following the introduction of MTC. (3) Patients referred using the urban trauma protocol and the rural trauma protocol. Following the introduction of regional trauma systems and major trauma centres (MTC), isolated burn patients seen at our regional burns centre did not show any significant improvement in transfer times, admission resuscitation parameters, organ dysfunction or survival when referred from a MTC compared to a non-MTC emergency department. There was also no significant difference in survival when comparing referrals from all hospitals pre and post establishment of the major trauma network. No significant outcome benefit was demonstrated for burns patients referred via MTCs compared to non-MTCs. We suggest further research is needed to ascertain whether burns patients benefit from prolonged transfer times to a MTC compared to those seen at their local hospitals prior to transfer to a regional burns unit for further specialist care. Copyright © 2016 Elsevier Ltd and ISBI. All rights reserved.

  7. Cardiac failure in β-thalassemia: diagnosis, prevention and management

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    A. Aessopos

    2011-12-01

    Full Text Available Heart failure always represented and still remains the leading cause of mortality in β (β-thalassemia, despite the therapeutic advances and the considerable amelioration of prognosis accomplished over the last decades. High cardiac output due to chronic anemia and myocardial iron overload due to repetitive blood transfusions are the two main pathogenetic mechanisms causing heart failure in β-thalassemia. In regularly treated thalassemia major patients, left ventricular dysfunction, resulting mainly from myocardial siderosis, is considered to be the primary cause of heart failure and thus the prevention, early recognition and effective management of iron overload is of key importance. However, the spectrum of cardiovascular complications that may ultimately lead to heart is wide and should be individually investigated in each one of the patients. Echocardiography is the main modality used for the regular follow-up and screening of asymptomatic patients and for the evaluation of patients with cardiac symptoms, while the T2* relaxation time provided by magnetic resonance imaging allows the accurate identification and quantification of myocardial iron burden and thus the proper guidance of iron chelation therapy. 近几十年来,尽管治疗方法取得进步和预断方法得到显著改进,但是心脏衰竭仍是引起β地中海贫血症患者死亡的主要原因。 慢性贫血导致的高心输出量和反复输血导致的心脏铁过载,是导致β地中海贫血患者心脏衰竭的两大发病机制。 在常规治疗的重型地中海贫血患者中,心脏铁质沉着病引起的可逆性左心室功能障碍,被认为是心脏衰竭的主要原因。因此,预防、早期确诊和有效控制铁过载至关重要。 然而,最终导致心脏衰竭的心血管并发症的症状繁多,应对每个患者单独进行检查。 超声心动图仪是用于无症状患者定期随访、筛查和诊断有心脏病症状患

  8. Hb A1c Determination by Capillary Electrophoresis is an Efficient Method for Detecting β-Thalassemias and Hemoglobin Variants.

    Science.gov (United States)

    Orts, Juan A; Zúñiga, Ángel; Bello, Yanis; Fabregat, Aleix B; Vicente, Ana I

    2016-09-01

    Glycated hemoglobin (Hb A1c) determination by multicapillary zone electrophoresis (MZE) can additionally be used to detect Hb A2, Hb F and most common hemoglobin (Hb) variants. We assessed the effectiveness of this method for detecting β-thalassemia (β-thal), δβ-thalassemia (δβ-thal) and most common Hb variants. Moreover, Hb F/Hb A2 is evaluated as an index for discriminating between β- and δβ-thal traits. The theoretical β-thalassemia major (β-TM) birth rate in our healthcare area is calculated and contrasted with real data. A MZE technique was used for Hb A1c measurements in 27,724 patients. Previous criteria for carrier detection were established and subsequently confirmed by molecular biology techniques. Positive predictive value (PPV) was 100.0%. The prevalence of β-thal trait (including δβ-thal) was 0.34%. The most prevalent mutations (estimated per 100,000 population) were HBB: c.118C > T (57.7%), HBB: c.93-21G>A (50.5%), HBB: c.92 + 1G > A (43.3%), HBB: c.92 + 6T > C (32.5%) and HBB: c.20delA (18.0%) for β-thalassemias, and Hb S (HBB: c.20A > T) (32.5%) and Hb J-Baltimore (HBB:c.3880T>A) (28.9%) for Hb variants. We found a paradoxical result between the theoretical β-TM birth rate and real data. We calculated an optimal Hb F/Hb A2 index cutoff of 0.71 for discriminating between β- and δβ-thal traits. This method is highly cost-effective for detecting β-thalassemias and common Hb variants. Prevalence results match previous data for the Spanish population. Heterogeneity of mutations in Spain has markedly increased as a consequence of migration. The Hb F/Hb A2 index cutoff could be used to predict δβ-thal trait.

  9. Approaches to management of beta-thalassemia intermedia

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    Joseph E. Maakaron

    2013-03-01

    Full Text Available Thalassemia intermedia is a genetically diverse group of diseases that is the result of an imbalance in the production of the alpha and beta chains with ensuing chronic hemolysis, ineffective erythropoiesis, and iron overload.Resulting complications include bone changes, hypercoagulability, and end-organ damage due to iron overload. This decade has witnessed major breakthroughs in the management of thalassemia. In this article, we examine these novelties in therapy including iron chelation therapy, stem cell transplant, and gene therapy.Iron chelation therapy has been revolutionized with the advent of deferasirox, a once-daily oral iron chelator, that has been shown to be safe and efficacious.Gene therapy was also at the core of this revolution with the discovery of novel gene elements and viral vectors allowing for better control and improved outcomes.

  10. Recent advances in gene therapy for thalassemia

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    J V Raja

    2012-01-01

    Full Text Available Thalassemias are genetically transmitted disorders. Depending upon whether the genetic defects or deletion lies in transmission of α or β globin chain gene, thalassemias are classified into α and β-thalassemias. Thus, thalassemias could be cured by introducing or correcting a gene into the hematopoietic compartment or a single stem cell. Initial attempts at gene transfer have proved unsuccessful due to limitations of available gene transfer vectors. The present review described the newer approaches to overcome these limitations, includes the introduction of lentiviral vectors. New approaches have also focused on targeting the specific mutation in the globin genes, correcting the DNA sequence or manipulating the development in DNA translocation and splicing to restore globin chain synthesis. This review mainly discusses the gene therapy strategies for the thalassemias, including the use of lentiviral vectors, generation of induced pluripotent stem (iPS cells, gene targeting, splice-switching and stop codon readthrough.

  11. Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia.

    Science.gov (United States)

    Mettananda, Sachith; Fisher, Chris A; Hay, Deborah; Badat, Mohsin; Quek, Lynn; Clark, Kevin; Hublitz, Philip; Downes, Damien; Kerry, Jon; Gosden, Matthew; Telenius, Jelena; Sloane-Stanley, Jackie A; Faustino, Paula; Coelho, Andreia; Doondeea, Jessica; Usukhbayar, Batchimeg; Sopp, Paul; Sharpe, Jacqueline A; Hughes, Jim R; Vyas, Paresh; Gibbons, Richard J; Higgs, Douglas R

    2017-09-04

    β-Thalassemia is one of the most common inherited anemias, with no effective cure for most patients. The pathophysiology reflects an imbalance between α- and β-globin chains with an excess of free α-globin chains causing ineffective erythropoiesis and hemolysis. When α-thalassemia is co-inherited with β-thalassemia, excess free α-globin chains are reduced significantly ameliorating the clinical severity. Here we demonstrate the use of CRISPR/Cas9 genome editing of primary human hematopoietic stem/progenitor (CD34+) cells to emulate a natural mutation, which deletes the MCS-R2 α-globin enhancer and causes α-thalassemia. When edited CD34+ cells are differentiated into erythroid cells, we observe the expected reduction in α-globin expression and a correction of the pathologic globin chain imbalance in cells from patients with β-thalassemia. Xenograft assays show that a proportion of the edited CD34+ cells are long-term repopulating hematopoietic stem cells, demonstrating the potential of this approach for translation into a therapy for β-thalassemia.β-thalassemia is characterised by the presence of an excess of α-globin chains, which contribute to erythrocyte pathology. Here the authors use CRISP/Cas9 to reduce α-globin expression in hematopoietic precursors, and show effectiveness in xenograft assays in mice.

  12. The patient perspective in research on major depression

    NARCIS (Netherlands)

    Cuijpers, P.

    2011-01-01

    Although thousands of studies have examined the genetics, epidemiology, etiology, biology, treatment and prevention of major depressive disorder, we still lack very basic knowledge about what patients with depressive disorders need. Despite the thousands of studies that have been conducted on major

  13. Hematology of a murine beta-thalassemia: a longitudinal study.

    Science.gov (United States)

    Popp, R A; Popp, D M; Johnson, F M; Skow, L C; Lewis, S E

    1985-01-01

    Mice homozygous for a spontaneous mutation, in which the beta-major globin gene is deleted, have clinical symptoms of beta-thalassemia. These mice have a hypocellular, hypochromic, microcytic anemia that becomes more severe with increasing age. The defective red cell morphology, decreased osmotic fragility of erythrocytes and shortened red cell life span found in beta-thalassemic mice are similar to those observed in human beta-thalassemia. Synthesis of beta-globin is depressed but not as much as might be expected because the expression of the beta-minor globin gene is enhanced to encode two to three times more globin than in normal mice. Splenomegaly, an enlarged pool of stem cells for erythropoiesis, and iron overloading occur in older mice. The fact that these mice remain moderately healthy makes them a very suitable animal model in which to develop and test alternative techniques of gene therapy that could be successfully applied to the treatment of human thalassemia. Homozygous beta-thalassemic mice have large deposits of iron in their tissues, which might make these mice also useful for in vivo tests of the effectiveness and possible long-term side effects of newly developed iron chelators.

  14. Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia

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    Alexandra Agapidou

    2018-01-01

    Full Text Available Beta thalassemia dominant results from mutations in the β globin chain gene resulting in the production of elongated, highly unstable beta globin chains. Several such mutations have been described and in a heterozygous state they may confer a phenotype more severe than that of β thalassemia trait and lead to a clinical syndrome of thalassemia intermedia and its associated complications such as extramedullary hemopoiesis, bone disease, endocrinopathies and iron overload even in the absence of transfusion. In this report we present a case of double heterozygocity for HbC and β thalassemia dominant leading to a series of complications that were treated successfully once the correct diagnosis was made.

  15. THE DIAGNOSTIC VALUE OF PULSED WAVE TISSUE DOPPLER IMAGING IN ASYMPTOMATIC BETA- THALASSEMIA MAJOR CHILDREN AND YOUNG ADULTS ; RELATION TO CHEMICAL BIOMARKERS OF LEFT VENTRICULAR FUNCTION AND IRON OVERLOAD .

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    Seham Ragab

    2015-08-01

    Full Text Available Background: Cardiac iron toxicity is the leading cause of death among  β-halassaemia major (TM  patients.  Once  heart failure becomes overt , it will be  difficult to reverse . Objectives: To investigate non overt cardiac dysfunctions  in TM patients using  pulsed wave Tissue Doppler  Imaging (TD I and its relation to the iron overload and brain natruritic peptide (BNP. Methods: Thorough  clinical , conventional echo and  pulsed  wave TDI  parameters were compared between  asymtomatic 25 β-TM  patients  and 20 age and gender matched individuals. Serum ferritin and plasma BNP  levels were assayed by  ELISA .  Results: TM patients had significant higher mitral inflow early diastolic (E wave and  non significant other conventional echo  parameters. Pulsed wave TDI revealed systolic and diastolic dysfunctions in the form of significant higher  isovolumetric contraction time (ICT , ejection time ( E T and  isovolumetric relaxation time (IRT with significantly lower  mitral annulus  early diastolic velocity E` (12.07 ±2.06 vs 15.04±2.65 ,P= 0.003  in patients compared to  controls. Plasma BNP was higher in patients compared to the controls.  Plasma BNP and serum ferritin had significant correlation with each other and with pulsed wave conventional and TDI indices of systolic and diastolic functions.  Patients with E/E` ≥ 8 had  significant higher  serum ferritin  and plasma BNP levels compared to those with E/E` ratio < 8 without difference in Hb levels .Conclusion:  Pulsed wave TDI  is an  important diagnostic tool for latent cardiac dysfunction in iron loaded TM patients and is related to iron overload and BNP .

  16. X-ray scattering signatures of {beta}-thalassemia

    Energy Technology Data Exchange (ETDEWEB)

    Desouky, Omar S. [Radiation Physics Department, National Center for Radiation Research and Technology (NCRRT) (Egypt); Elshemey, Wael M. [Biophysics Department, Faculty of Science, Cairo University (Egypt)], E-mail: waelelshemey@yahoo.com; Selim, Nabila S. [Radiation Physics Department, National Center for Radiation Research and Technology (NCRRT) (Egypt)

    2009-08-11

    X-ray scattering from lyophilized proteins or protein-rich samples is characterized by the presence of two characteristic broad peaks at scattering angles equivalent to momentum transfer values of 0.27 and 0.6 nm{sup -1}, respectively. These peaks arise from the interference of coherently scattered photons. Once the conformation of a protein is changed, these two peaks reflect such change with considerable sensitivity. The present work examines the possibility of characterizing the most common cause of hemolytic anaemia in Egypt and many Mediterranean countries; {beta}-thalassemia, from its X-ray scattering profile. This disease emerges from a genetic defect causing reduced rate in the synthesis of one of the globin chains that make up hemoglobin. As a result, structurally abnormal hemoglobin molecules are formed. In order to detect such molecular disorder, hemoglobin samples of {beta}-thalassemia patients are collected, lyophilized and measured using a conventional X-ray diffractometer. Results show significant differences in the X-ray scattering profiles of most of the diseased samples compared to control. The shape of the first scattering peak at 0.27 nm{sup -1}, in addition to the relative intensity of the first to the second scattering peaks, provides the most reliable signs of abnormality in diseased samples. The results are interpreted and confirmed with the aid of Fourier Transform Infrared (FTIR) spectroscopy of normal and thalassemia samples.

  17. Thalassemia: essential radiographic and clinical features of interest to dentistry

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    Luiz Roberto Coutinho Manhães Junior

    2008-01-01

    Full Text Available Thalassemia is a type of hereditary anemia that predominantly affects individuals born in or descendents of countries bathed by the Mediterranean Sea, such as Italy and Greece. Also known as Cooley’s anemia and Mediterranean anemia, the disease causes alterations in hemoglobin formation and malformations of the cranium, long bones, maxilla and mandible. It presents two distinct clinical conditions: one severe, called “major” thalassemia, and the other mild, denominated “minor” thassalemia. Hematologic exam diagnoses the two forms of the disease. Its clinical and radiographic manifestations include hepatosplenomegalia, lymphadenopathy, augmented mandible, increase in medullary spaces, thick bone trabeculae and in lower quantity, resembling a “spider web”, displacement of the mandibular canal, with loss of detail of its superior and inferior corticals and a radiographic aspect of “hair standing on end” at the surface of the cranium. Some of these manifestations are so characteristic and capable of being observed in radiographs that they form part of the dentist’s routine. This case report discusses the alterations observed in the panoramic radiograph of a patient with thalassemia diagnosed by means of hematologic exam.

  18. Hematologic Features of Alpha Thalassemia Carriers

    Science.gov (United States)

    Akhavan-Niaki, Haleh; Youssefi Kamangari, Reza; Banihashemi, Ali; Kholghi Oskooei, Vahid; Azizi, Mandana; Tamaddoni, Ahmad; Sedaghat, Sadegh; Vakili, Mohsen; Mahmoudi Nesheli, Hassan; Shabani, Soraya

    2012-01-01

    Alpha thalassemia (α-thal) is relatively common worldwide. Most carriers are defective in either one or two alpha globin genes out of four functional ones, with deletions being more common than point mutations. The hematologic features are very important for the selection of the appropriate molecular tests while determining the genotype. The aim of this study was to compare hematologic features of patients with various types of α globin mutations. Hematological indices including red blood cells (RBC), hemoglobin concentration (Hb), mean cell volume (MCV), mean cell hemoglobin (MCH), Mean corpuscular hemoglobin concentration (MCHC) and percentage of Hemoglobin (HBA1, HBA2 and HBF) of seven-hundred and twenty two patients presenting ten different α-thal genotypes were considered. All patients showed reduced MCV and/or MCH values.Moreover, MCV and MCH were lower in patients with two functional alpha globin genes in comparison to patients with one mutated alpha globin gene (P value<0.001). In conclusion, MCV and MCH valuescan be helpful for the selection of the appropriate molecular tests to determine the genotype of alphathalassemia carriers. PMID:24551772

  19. Effectiveness of treatment of patients affected by trochanter major enthesitis

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    Eldad Kaljić

    2012-04-01

    Full Text Available Introduction: Enthesitis of the trochanter major is characterized by pain and often by limping when walking, then pain, tension, swelling, increased warmth and redness in the area of trochanter, and hip weaknessespecially when performing exercises with resistance. Research goals: Determine the effectiveness of treatment of major trochanter enthesitis, and analyze the representation of it in patients of both gender, different ages and professions.Methods: Retrospective analysis of data from the clinic "Praxis" in the period from 01.01.2001. to 31.12.2011. year because of the major trochanter enthesitis 30 patients were treated. Criteria for inclusion in the study were those people with symptoms and diagnosis of of the trochanter major enthesitis who have accessed treatment, while the criteria for exclusion were inadequate diagnosis, treatment abandonment and lack ofpatient data. The process of therapy included the evaluation of the functional status of patients graded 0-5, then conducted physical therapy that included: bed rest, manual massage and local instillation of depot corticosteroids, and assessment of treatment success ranging from 0 to 5.Research results: The mean score for condition of respondents was 3.27 before therapy, while after treatment it was 4.33. The mean score for status of respondents was 3.13 before treatment, and after therapy itwas 4.33.Conslusion: Based on these data we can conclude that treatment in the clinic "Praxis" leads to the improvement in patients suffering from the enthesitis of trochanter major.

  20. The patient perspective in research on major depression

    Directory of Open Access Journals (Sweden)

    Cuijpers Pim

    2011-05-01

    Full Text Available Abstract Although thousands of studies have examined the genetics, epidemiology, etiology, biology, treatment and prevention of major depressive disorder, we still lack very basic knowledge about what patients with depressive disorders need. Despite the thousands of studies that have been conducted on major depression and the hundreds of randomized trials that have examined the effects of treatments, many patients still do not know how to cope with the daily problems caused by depressive disorders. In this Commentary the need for more research on the perspectives of patients is described. This research should guide treatment studies as well as basic research much more than it currently does. This perpective is especially important to understand and solve the undertreatment of depression, one of the major problems in this area. Up to 50% of depressed patients do not seek treatment, resulting in huge avoidable disease burden and economic costs. In order to solve this problem we need a better understanding of the problems patients encounter in daily life, and what factors contribute to the reasons for seeking treatment or not. Research from the patients' perspective is also necessary to meet the currently unmet information needs of patients, including information about the nature and causes of depression, stigma, medication, treatment and coping with the daily problems of having depression.

  1. THERAPEUTIC VALUE OF COMBINED THERAPY WITH DEFERASIROX AND SILYMARIN ON IRON OVERLOAD IN CHILDREN WITH BETA THALASSEMIA

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    adel abd elhaleim hagag

    2013-11-01

    Patients and Methods: This study was conducted on 40 children with beta thalassemia major under follow-up at Hematology Unit, Pediatric Department, Tanta University Hospital having serum ferritin level more than 1000 ng/ml and was divided in two groups. Group IA: Received oral Deferasirox (Exjade and silymarin for 6 months. Group IB: Received oral Deferasirox (Exjade and placebo for 6 months and 20 healthy children serving as a control group in the period between April 2011 and August 2012 and was performed after approval from research ethical committee center in Tanta University Hospital and obtaining an informed written parental consent from all participants in this research. Results: Serum ferritin levels were markedly decreased in group IA cases compared with group IB (P= 0.001. Conclusion: From this study we concluded that, silymarin in combination with Exjade can be safely used in treatment of iron-loaded thalassemic patients as it showed good iron chelation with no sign of toxicity. Recommendations: Extensive multicenter studies in large number of patients with longer duration of follow up and more advanced methods of assessment of iron status is recommended to clarify the exact role of silymarin in reduction of iron over load in children with beta thalassemia.

  2. Post Splenectomy Outcome in β-Thalassemia.

    Science.gov (United States)

    Merchant, Rashid H; Shah, Ami R; Ahmad, Javed; Karnik, Alka; Rai, Nooralam

    2015-12-01

    To evaluate changes in annual blood transfusion requirements and complications after splenectomy in patients with β-thalassemia. Forty post-splenectomy β-thalassemic patients aged 8-33 y, receiving regular blood transfusions and chelation therapy were included and non transfusion dependant patients were excluded from this retrospective cross-sectional study. Details about their surgery, transfusion requirements, and platelet levels were recorded on a standard proforma. All patients underwent a B-mode and color-coded duplex sonography of the hepatoportal system during the study period. The average ferritin level in the year prior to the study was 4432 mcg/L (range 480-12,200 mcg/L). The annual blood transfusion requirement in the first year and 5 y post splenectomy [mean ± SD (138.41 ± 90.38 ml/kg/y); (116 ± 41.44 ml/kg/y)] were significantly different from requirements before splenectomy [(mean ± SD) 294.85 ± 226 ml/kg/y; p value splenectomy with a mean rise of 4,51,000/mm(3) (p value splenectomy. Increase in annual blood transfusion requirement should be investigated to find the cause.

  3. Spinal cord compression in {beta}-thalassemia: follow-up after radiotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Fonseca, Silvana Fahel da; Figueiredo, Maria Stella; Cancado, Rodolfo Delfini; Nakadakare, Fernando; Segreto, Roberto; Kerbauy, Jose [Universidade Federal de Sao Paulo (UNIFESP), SP (Brazil). Escola Paulista de Medicina

    1998-12-01

    Spinal cord compression due to extramedullary hematopoiesis is a well-described bu rare syndrome encountered in several hematologic disorders, including {beta}-thalassemia. We report a case of a patient with intermediate {beta}-thalassemia and crural paraparesis due to spinal cord compression by a paravertebral extramedullary mass. She was successfully treated with low-dose radiotherapy and transfusions. After splenectomy, she was regularly followed up for over four years without transfusion or recurrence of spinal cord compression. Extramedullary hematopoiesis should be investigated in patients with hematologic disorders and spinal cord symptoms. The rapid recognition and treatment with radiotherapy can dramatically alleviate symptoms. (author)

  4. Clinical management of the homozygous α-thalassemia with unusual mandibular manifestation of hematopoiesis.

    Science.gov (United States)

    Ruiz-Roca, J A; Oñate-Sánchez, R E; Urrutia-Rodríguez, I; Martínez-Izquierdo, A; Mengual-Pujante, D; Rodríguez-Lozano, F J

    2017-02-01

    Alpha (α)-thalassemias are the most common genetic disorder of hemoglobin (Hb) synthesis, affecting up to 5% of the world's population. These congenital hemolytic anemias induce extramedullary hematopoiesis, including the liver, spleen, sinuses, and the diploic spaces of the skull. Oral health problems in patients with thalassemias are mostly related to a varied degree of facial deformities, malocclusions, and/or dental arch dimensions. We present a case with a 49-year-old man, diagnosed with homozygous α thalassemia that came to the Faculty of Dentistry at the University of Murcia for a dental treatment. It was observed that the patient had an unusual mandibular manifestation of hematopoiesis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  5. Prevalence and presentation of spinal injury in patients with major

    African Journals Online (AJOL)

    dell

    Background: Spinal injury is a major cause of morbidity, mortality and long bed occupancy in patients admitted in Mulago Hospital. Several studies have reported different incidence and presentations of spinal injury 1-4. At Mulago hospital, road traffic crushes (RTC) is one of the most common causes of these injuries5.

  6. Prevalence and presentation of spinal injury in patients with major ...

    African Journals Online (AJOL)

    Background: Spinal injury is a major cause of morbidity, mortality and long bed occupancy in patients admitted in Mulago Hospital. Several studies have reported different incidence and presentations of spinal injury 1-4. At Mulago hospital, road traffic crushes (RTC) is one of the most common causes of these injuries5.

  7. Elevated Middle Cerebral Artery Peak Systolic Velocity in a Nonanemic Fetus with Alpha-Thalassemia Trait

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    Kent Heyborne

    2009-01-01

    Full Text Available Background. Elevated middle cerebral artery peak systolic velocity (MCA-PSV has been reported in nonanemic fetuses following fetal transfusion, and has been attributed to a major population of red blood cells (RBCs with an adult mean corpuscular volume (MCV in the fetal circulation. Reported here is an analogous case of elevated MCA-PSV with a normal fetal hematocrit and relative fetal microcytosis due to fetal α-thalassemia trait. Case. Ultrasound findings concerning for early hydrops prompted measurement of MCA-PSV, which was elevated. Cordocentesis revealed fetal microcytosis with a normal hematocrit which proved to be due to fetal α-thalassemia trait inherited from the mother. Conclusion. This case provides another example of elevated MCA-PSV with normal hematocrit and microcytosis, here due to fetal α-thalassemia trait. This finding provides support for the observation that MCA-PSV may be influenced by hematological indices other than the fetal hematocrit.

  8. The Ongoing Challenge of Hematopoietic Stem Cell-Based Gene Therapy for β-Thalassemia

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    Ekati Drakopoulou

    2011-01-01

    Full Text Available β-thalassemia is characterized by reduced or absence of β-globin production, resulting in anemia. Current therapies include blood transfusion combined with iron chelation. BM transplantation, although curative, is restricted by the matched donor limitation. Gene therapy, on the other hand, is promising, and its success lies primarily on designing efficient globin vectors that can effectively and stably transduce HSCs. The major breakthrough in β-thalassemia gene therapy occurred a decade ago with the development of globin LVs. Since then, researchers focused on designing efficient and safe vectors, which can successfully deliver the therapeutic transgene, demonstrating no insertional mutagenesis. Furthermore, as human HSCs have intrinsic barriers to HIV-1 infection, attention is drawn towards their ex vivo manipulation, aiming to achieve higher yield of genetically modified HSCs. This paper presents the current status of gene therapy for β-thalassemia, its success and limitations, and the novel promising strategies available involving the therapeutic role of HSCs.

  9. Prevalência de talassemias e hemoglobinas variantes em pacientes portadores de lúpus eritematoso sistêmico Prevalence of thalassemias and variant hemoglobins in patients with systemic lupus erythematosus

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    Frank S. Castro

    2008-02-01

    causes of SLE are not totally known, but It is known that environmental and genetic factors are involved. Among various clinical manifestations observed in lupus patients, anemia calls the attention because of a prevalence of 52.5% of the patients with RBC indices suggestive of anemia identified in this study. Although anemia is usually seen in patients with SLE, studies of the prevalence of hereditary anemias, particularly hemoglobinopathies, have not been carried out in populations. The objective of this work was to evaluate the prevalence of hemoglobinophaties in patients with SLE. We studied 80 blood samples of patients with SLE in Hospital das Clínicas in Goiania, Brazil. The frequency of alterations of the hemoglobin was 10.0% (8 patients. Among these alterations, the most prevalent was alpha thalassemia in 4 patients (5.0% of the studied population. The heterozygosity for hemoglobin S was seen in 2 patients (2.5%, hemoglobin C in one patient (1.25% and one patient was identified with beta thalassemia minor. No homozygous cases were found in the present study. According to this work no difference in the prevalence of hemoglobin disorders was observed between general population and patients with SLE.

  10. Hearing status of thalassemic patients treated with dessfroxamin

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    Majid Ashrafi

    2011-11-01

    Full Text Available Background: Major beta thalassemia is the most common inherited anemia with high prevalence in Iran and hearing loss is one of its side effects. The present study aimed to determine the hearing status of patients with major thalassemia and its relationship with serum ferritin level, period of blood transfusion and Dessfroxamin administration.Methods: This descriptive-analytic study was performed on 80 thalassemia major patients (36 Male and 44 Female aged 4-32 (14.2 ±2.3 who were referred to Bou Ali Hospital for two years. The studied variables include age, gender, serum ferritin level, amount and duration of Desferal injection and hearing level. All subjects went under evaluation for their otologic and audiometric status. The collected data were analyzed using t-test and ANOVA with SPSS software.Results: The findings of the study indicated that 38 patients (47% had entirely hearing loss. Among these 38 patients, 17 patients had sensory neural type f hearing loss 12 patients had conductive and 7 patients had mixed type of hearing problems. The results showed a significant relationship (p<0.05 between hearing loss and serum ferritin level and the dosage and duration of Desferal administration. Conclusion: Hearing impairment may develop with increasing dosage of Dessfroxamin. Periodic follow up and physical examination is recommended to prevent hearing impairment in major thalassemia.

  11. A novel single gene deletion (-αMAL3.5 giving rise to silent α thalassemia carrier removing the entire HBA2 gene observed in two Chinese patients with Hb H disease: case report of two probands

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    Faidatul Syazlin Abdul Hamid

    2015-07-01

    Full Text Available We report a novel deletion at the HBA2 presented with Hb H disease in two Malaysian- Chinese patients. The two unrelated probands were diagnosed with Hb H disease in a primary hematological screening for thalassemia. Results from routine molecular analysis with gap-polymerase chain reaction (PCR method revealed a genotype asynchrony with the observed clinical presentation. Subsequent DNA analysis using a battery of molecular methods such as gap-PCR, multiplex ligation dependent probe amplification, DNA sequencing, confirmed the presence of a novel deletion in both the index cases removing the entire α2 globin gene. We have designated the deletion as (‒αMAL3.5. Hematological indices and clinical findings suggest that the deletion has an α+ phenotype. The molecular process of this deletion is the result from misalignment and unequal crossover event between the duplicated homologous Y-boxes within the α globin gene cluster. Uncharacterized deletions, single nucleotide polymorphism and other nucleotide indels at the primer binding sites may impede the optimum condition for its annealing and extension and therefore may invalidate the gap-PCR obscuring the real genotype.

  12. Measurement of HbA1c and HbA2 by Capillarys 2 Flex Piercing HbA1c programme for simultaneous management of diabetes and screening for thalassemia

    OpenAIRE

    Ke, Peifeng; Liu, Jiawei; Chao, Yan; Wu, Xiaobin; Xiong, Yujuan; Lin, Li; Wan, Zemin; Wu, Xinzhong; Xu, Jianhua; Zhuang, Junhua; Huang, Xianzhang

    2017-01-01

    Introduction: Thalassemia could interfere with some assays for haemoglobin A1c (HbA1c) measurement, therefore, it is useful to be able to screen for thalassemia while measuring HbA1c. We used Capillarys 2 Flex Piercing (Capillarys 2FP) HbA1c programme to simultaneously measure HbA1c and screen for thalassemia. Materials and methods: Samples from 498 normal controls and 175 thalassemia patients were analysed by Capillarys 2FP HbA1c programme (Sebia, France). For method comparison, ...

  13. Group psychotherapy for HIV-seropositive patients with major depression.

    Science.gov (United States)

    Levine, S H; Bystritsky, A; Baron, D; Jones, L D

    1991-07-01

    Patients were recruited from the UCLA AIDS Research Center who had previously been referred to psychiatry for participation in an open-label pilot treating patients with major depression with fluoxetine. They chose to participate in group therapy for continuing distress in coping with their HIV-seropositive status, dissolution of their support system, "accepting patienthood," and on being placed on an experimental medical protocol. The group was a closed, twenty-session, homogeneous (for patient characteristics), psychoeducational, supportive, and cognitively oriented psychotherapy group. We found this to be a successful intervention in helping patients manage HIV illness and in providing the coping skills and social support necessary to function at home, work, and in their interaction with their health care providers.

  14. [The Mental Rehabilitation of Burn Patients After a Major Disaster].

    Science.gov (United States)

    Chou, Frank Huang-Chih

    2016-02-01

    Many catastrophic disasters have happened in Taiwan over the last decade. As disaster is not a special occurrence but rather a part of the norm, mental rehabilitation should be treated as a mainstream issue in psychiatry. The internalization of emergency psychological interventions is necessary for every mental-health professional. The two primary categories of major manmade disasters in Taiwan over the past decade have been gas explosions and powder burns. Both categories have led to the serious injury of many individuals. The physical deformities and job problems faced by burn patients affect their psychiatric and emotional states both directly and indirectly. The psychiatric comorbidities of burn patients include: major depression, generalized anxiety disorder (GAD), and posttraumatic stress disorder (PTSD), with GAD and PTSD comprising the most significant comorbidities in terms of numbers of diagnoses. To reduce psychological problems in the future, mental-health professionals should use appropriate psychological first aid (PFA) interventions in the early stages of treatment and rehabilitation. Mental rehabilitation is a major and comprehensive rehabilitation process. Mental-health professionals should thus use PFA to treat burn patients as well as provide long-term mental rehabilitation after discharge.

  15. Thalassemia

    Science.gov (United States)

    ... Emergency Preparedness & Response Environmental Health Healthy Living Injury, Violence & Safety Life Stages & Populations Travelers’ Health Workplace Safety & Health Features Media Sign up for Features Get Email Updates To ...

  16. Thalassemias

    Science.gov (United States)

    ... screening. For more information, go to the Health Topics Blood Transfusion article. Iron Chelation Therapy The hemoglobin in red ... experiences with clinical research. More Information Related Health Topics Anemia Blood and Bone ... Anemia Other Resources Non-NHLBI Resources ...

  17. Profile of Major Depressive Disorder Symptoms among Patients in Tehran

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    Rozita Davari

    2007-05-01

    Full Text Available Objectives: Culture may place a differential emphasis on particular emotions. The aim of this study is to find the most frequent symptoms in patients with major depressive disorder in Tehran. Method: 509 patients were recruited from 5 treatment settings. The sample was used from the project of assessing psychometric properties of CIDI in the Iranian population. The patients were evaluated by conducting clinical interviews and using DSM-IV criteria (American Psychiatric Association, 1994 for major depressive disorder. Results: Depressed mood (98.7%, sleep change (92.1% and, fatigue / energy loss (89.4% were the three highest-ranking symptoms. As cognitive factors, guiltiness and worthlessness were among the lowest ranking symptoms. There were no significant differences between men and women in frequency of symptoms with the exception of suicidal thoughts. Men had significantly higher suicidal thoughts than women. (P: 0. 01 Conclusion: Data were presented on the depressive symptomatology in population of Tehran. Key findings included a high rate of somatic symptoms in patients who suffered from MDD in this population.

  18. Community genetics and health approaches for bringing awareness in tribals for the prevention of beta-thalassemia in India

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    Ranbir S. Balgir

    2011-08-01

    Full Text Available Beta (β thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of β-globin chains. In the homozygous state, β-thalassemia (i.e., thalassemia major causes severe transfusion-dependent anemia. Inherited β-thalassemia syndromes cause high degree of hemolytic anemia, recurrent fever, clinical jaundice, frequent infections, bossing of cheek bones, growth retardation, splenomegaly, etc. and are responsible for high infant morbidity, mortality and fetal wastage in India. The victims include the infants, growing children, adolescent girls, pregnant women and a large chunk of ignorant people. In view of heavy genetic load, frequent requirement of blood transfusions, high cost of treatment and management, physical trauma, and mental and psychological harassment to the patients and their families, it has been realized that preventive community health and genetics approach is the most suitable for India. After carrier detection, prenatal diagnosis, and genetic couselling are the important options for couples at high risk for β-thalassemia. A prerequisite for successful prevention and intervention approach in India is the health education, bringing public awareness, sensitization, and community screening for the identification of heterozygotes or carriers in the concerned community. Some suggestions for the prevention of β-thalassemia in the vulnerable communities of India have been over emphasized for amelioration.β地中海贫血综合症是一簇遗传性异常,其特点是β球蛋白链接合处基因缺失。β地贫(或重型地贫)在纯和状态下导致严重的输液依赖型贫血症。遗传性的β地贫综合症引起严重的溶血性贫血、回归热、显性黄疸、常见感染、疼痛危象、颊骨浮肿、生长迟缓、脾肿大等症状,这导致在印度出现婴儿高发病率、死亡率和胎儿夭折。其受害人群包括婴儿、发

  19. A Patient with β-Thalassemia Intermedia Secondary to Homozygosity for a Polyadenylation Signal Mutation (AATAAA > AATAGA) (HBB: C.*112A > G) on the β-Globin Gene.

    Science.gov (United States)

    Lim, Yen-Chian; Tan, Karen M L; Chong, Samuel S; Rajendran, Joseph; Sampath, Venkatasreekanth

    2016-09-01

    We describe the clinical presentation and laboratory findings of a Malay man with β-thalassemia intermedia (β-TI), secondary to homozygosity for a polyadenylation (polyA) signal mutation (AATAAA > AATAGA) (HBB: c.*112A > G) on the β-globin gene, and give a brief review of the literature. This is the first report of a homozygous case of this polyA mutation, and highlights the importance of molecular analysis of the globin genes in the diagnosis of thalassemia.

  20. Psychiatric comorbidities in patients with major depressive disorder

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    Thaipisuttikul P

    2014-11-01

    Full Text Available Papan Thaipisuttikul, Pichai Ittasakul, Punjaporn Waleeprakhon, Pattarabhorn Wisajun, Sudawan Jullagate Department of Psychiatry, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand Background: Psychiatric comorbidities are common in major depressive disorder (MDD. They may worsen outcome and cause economic burden. The primary objective was to examine the prevalence of psychiatric comorbidities in MDD. The secondary objectives were to compare the presence of comorbidities between currently active and past MDD, and between patients with and without suicidal risk.Methods: This was a cross-sectional study. A total of 250 patients with lifetime MDD and age ≥18 years were enrolled. The Mini International Neuropsychiatric Interview (MINI, Thai version, was used to confirm MDD diagnosis and classify comorbidities. MDD diagnosis was confirmed in 190, and 60 patients were excluded due to diagnosis of bipolar disorder.Results: Of the 190 MDD patients, 25.8% had current MDD and 74.2% had past MDD. Eighty percent were women. The mean age at enrollment was 50 years, and at MDD onset was 41 years. Most patients were married (53.2%, employed (54.8%, and had ≥12 years of education (66.9%. There were 67 patients (35.3% with one or more psychiatric comorbidities. Comorbidities included dysthymia (19.5%, any anxiety disorders (21.1% (panic disorder [6.8%], agoraphobia [5.8%], social phobia [3.7%], obsessive–compulsive disorder [OCD] [4.7%], generalized anxiety disorder [5.3%], and post-traumatic stress disorder [4.2%], alcohol dependence (0.5%, psychotic disorder (1.6%, antisocial personality (1.1%, and eating disorders (0%. Compared with past MDD, the current MDD group had significantly higher OCD (P<0.001, psychotic disorder (P=0.048, past panic disorder (P=0.017, and suicidal risk (P<0.001. Suicidal risk was found in 32.1% of patients. Patients with suicidal risk had more comorbid anxiety disorder of any type (P=0.019 and

  1. Clinical pharmacokinetics of ciprofloxacin in patients with major burns.

    Science.gov (United States)

    Lesne-Hulin, A; Bourget, P; Ravat, F; Goudin, C; Latarjet, J

    1999-09-01

    To better master the use of ciprofloxacin (CPF) in burn patients, a clinical study, including pharmacokinetics in serum and urine, was undertaken in a pathophysiologically homogeneous population of major-burn subjects. Twelve major-burn patients who were infected with Pseudomonas aeruginosa, enterobacteria and gram-positive cocci, received CPF (600 mg t.i.d.). The mean body surface area affected by third-degree burns was 31.8 +/- 14.5%. Two series of blood samples were drawn after the first and seventh doses; urine was collected during the first infusion. Levels of CPF in serum and urine were measured by means of high-performance liquid chromatography. A non-compartmental method was used for kinetic and graphic analysis of concentration-time pairs. No adverse effects were noted. Trough concentrations measured on day 3 (mean +/- SD) were above the minimum inhibitory concentration (MIC) for the organism responsible for infection; i.e., 2.0 +/- 1.2 microg. ml(-1), and maximum concentrations were high 9. 9 +/- 3.4 microg. ml(-1). An area under the concentration-time curve (AUC)/MIC ratio above 125 SIT(-1) (where SIT is the serum inhibitory titer), which has been strongly correlated with clinical response and time to bacterial eradication, was achieved in 11 patients with a MIC of 0.5 microg. ml(-1). There was a statistically significant difference between C(min) and AUC determined on day 1 and day 3. In contrast to healthy volunteers, CPF clearance rates were notably decreased. The pharmacokinetics of CPF was altered in major-burn patients. The recommended dosage regimen for administration of CPF, i.e. 600 mg t.i.d. shows no adverse effects and a good microbiological efficacy.

  2. Fluorescence spectral classification of iron deficiency anemia and thalassemia.

    Science.gov (United States)

    Devanesan, Sandhanasamy; Mohamad Saleh, AlSalhi; Ravikumar, Mani; Perinbam, Kantharaj; Prasad, Saradh; Abbas, H Al-Saeed; Palled, Siddanna R; Jeyaprakash, Karuppaiah; Masilamani, Vadivel

    2014-02-01

    Thalassemia (Thal), sickle cell anemia, and iron deficiency anemia (IDA) are the most common blood disorders in many parts of the world, particularly in developing countries like India and Bangladesh. The well-established diagnostic procedure for them is the complete blood count (CBC); however, there is substantial confusion in discrimination between Thal and IDA blood samples based on such CBC. We propose a new spectral technique for reliable classification between the above two anemias. This is based on the identification and quantification of a certain set of fluorescent metabolites found in the blood samples of patients of Thal and IDA.

  3. Impaired intuition in patients with major depressive disorder.

    Science.gov (United States)

    Remmers, Carina; Topolinski, Sascha; Dietrich, Detlef E; Michalak, Johannes

    2015-06-01

    In daily life, many decisions of minor and major importance have to be made. Thereby, intuitive judgments serve as useful guides and help us to adapt to our environment. People with major depressive disorder (MDD) often have difficulties to come to decisions. Is their intuition impaired? Since this question has not been addressed until now, the present study explored intuition in MDD. Depressed patients (n = 29) and healthy control participants (n = 27) completed the Judgment of Semantic Coherence Task, a well-established paradigm used in basic cognitive research to measure intuition. Furthermore, participants' severity of depressive symptoms (BDI-II), negative affect (PANAS), and rumination (RSQ) were assessed. All participants were interviewed with the SCID. Depressed patients showed impaired intuition compared to healthy control participants. In the depressed sample, negative affect accounts for the association between rumination and impaired intuition. Results further reveal that negative affect overall mediates the depression-intuition relationship. Patients with diminished ability to concentrate or indecisiveness had lower intuition indices compared to patients who did not fulfil this diagnostic criterion of MDD. The study introduces the phenomenon of intuition into depression research. Additionally, these results extent findings from basic research showing that induced negative mood as well difficulties to down-regulate negative affect impair intuitive coherence judgments. Current results indicate that the negative affectivity of patients is the crucial mediator in the association between depression and impaired intuition. Limitations of the study as well as the potential etiological role of intuition in MDD are discussed. The finding that intuition is impaired in depressed patients extends our knowledge as to the cognitive profile of patients with MDD. Patients who suffer from indecisiveness have lower intuition indices compared to patients who do not

  4. Psychiatric comorbidities in patients with major depressive disorder.

    Science.gov (United States)

    Thaipisuttikul, Papan; Ittasakul, Pichai; Waleeprakhon, Punjaporn; Wisajun, Pattarabhorn; Jullagate, Sudawan

    2014-01-01

    Psychiatric comorbidities are common in major depressive disorder (MDD). They may worsen outcome and cause economic burden. The primary objective was to examine the prevalence of psychiatric comorbidities in MDD. The secondary objectives were to compare the presence of comorbidities between currently active and past MDD, and between patients with and without suicidal risk. This was a cross-sectional study. A total of 250 patients with lifetime MDD and age ≥18 years were enrolled. The Mini International Neuropsychiatric Interview (MINI), Thai version, was used to confirm MDD diagnosis and classify comorbidities. MDD diagnosis was confirmed in 190, and 60 patients were excluded due to diagnosis of bipolar disorder. Of the 190 MDD patients, 25.8% had current MDD and 74.2% had past MDD. Eighty percent were women. The mean age at enrollment was 50 years, and at MDD onset was 41 years. Most patients were married (53.2%), employed (54.8%), and had ≥12 years of education (66.9%). There were 67 patients (35.3%) with one or more psychiatric comorbidities. Comorbidities included dysthymia (19.5%), any anxiety disorders (21.1%) (panic disorder [6.8%], agoraphobia [5.8%], social phobia [3.7%], obsessive-compulsive disorder [OCD] [4.7%], generalized anxiety disorder [5.3%], and post-traumatic stress disorder [4.2%]), alcohol dependence (0.5%), psychotic disorder (1.6%), antisocial personality (1.1%), and eating disorders (0%). Compared with past MDD, the current MDD group had significantly higher OCD (Panxiety disorder of any type (P=0.019) and psychotic disorder (P=0.032). Several comorbidities were associated with MDD. Patients with active MDD had higher comorbid OCD, psychotic disorder, past panic disorder, and suicidal risk. Patients with suicide risk had higher comorbid anxiety and psychotic disorders.

  5. Interaction of - α 3.7, ß Thalassemia Mutation IVS 1-5 and HbD Punjab in a Family: A Case Report.

    Science.gov (United States)

    Pandey, S; Ranjan, Ravi; Mishra, R M; Pandey, Sw; Saxena, R

    2012-07-01

    Hemoglobin D exist in four form; HbD trait, HbD-thalassemia, HbD sickle cell and HbD homozygous. HbD trait and HbD homozygous generally asymptomatic condition but when HbD co-inherit with thalassemia and sickle cell anemia, produces clinically significant conditions like chronic hemolytic anemia. Here we present a case of HbD Punjab with α 3.7 kb deletion and IVS-1-5 β-thalassemia across a family. Diagnosis of HbD patient was performed by high performance liquid chromatography and complete blood count was measured by automated cell analyzer. Molecular study for common alpha deletions done by Gap-PCR while beta thalassemia mutation identified by ARMS-PCR. Case was clinically significant due to the inheritance of HbD/β(+)thalassemia genotype. Thus observed case behaved like thalassemia intermedia due to co-existence of α 3.7 deletions with IVS 1-5 β-thalassemia mutation in HbD Punjab patient.

  6. Association of erythrocyte deformability with red blood cell distribution width in metabolic diseases and thalassemia trait.

    Science.gov (United States)

    Vayá, Amparo; Alis, Rafael; Suescún, Marta; Rivera, Leonor; Murado, Julian; Romagnoli, Marco; Solá, Eva; Hernandez-Mijares, Antonio

    2015-01-01

    Increased red blood distribution width (RDW) in anemia is related to disturbances in the cellular surface/volume ratio, usually accompanied by morphological alterations, while it has been shown in inflammatory diseases that the activity of pro-inflammatory cytokines disturbing erythropoiesis increases RDW. Recently it has been reported that higher RDW is related with decreased erythrocyte deformability, and that it could be related with the association of RDW and increased risk of cardiovascular diseases. In order to analyze the influence of morphological alterations and proinflammatory status on the relationship between RDW and erythrocyte deformability, we analyzed erythrocyte deformability along with RDW and other hematological and biochemical parameters in 36 α-thalassemia, 20 β-thalassemia, 20 δβ-thalassemia trait carriers, 61 metabolic syndrome patients and 76 morbidly obese patients. RDW correlated inversely with erythrocyte deformability in minor β-thalassemia (r =-0.530, p erythrocyte deformability. The proinflammatory profile in metabolic patients can be related to the positive association of RDW with erythrocyte deformability found in these patients. However, further research is needed to explain the mechanisms underlying this association.

  7. Does obesity predict bipolarity in major depressive patients?

    Science.gov (United States)

    Vannucchi, Giulia; Toni, Cristina; Maremmani, Icro; Perugi, Giulio

    2014-02-01

    Differential association of obesity in bipolar and unipolar Major Depressive Episode (MDE) has not been systematically studied. We explore the relationships between obesity and history of manic and hypomanic symptoms in a large national clinical sample of MDE patients. The sample comprised 571 consecutive patients with a DSM-IV diagnosis of MDE enrolled in a 7 months period. The study involved 30 psychiatric facilities for outpatients, distributed throughout Italy. Diagnosis was formulated by psychiatrists with extensive clinical experience in the diagnosis and treatment of mood disorders. In all patients height (meters) and weight (kilograms) were systematically measured at the moment of the clinical evaluation. The severity of depressive and anxious symptomatology was self-evaluated by the means of Zung's questionnaires for depression and anxiety. For the evaluation of lifetime manic or hypomanic features, Hypomania Check List-32 was also administered. Obese and Non-Obese subgroups were identified on the basis of a >30 BMI cut off point. BMI ≤30 was observed in 86 (15.1%) of our MDE patients. The Obese and Non-Obese subgroups did not report differences as regards to age and gender distribution. Obese patients reported a lower number of years of education in comparison with Non-Obese patients. As regards to marital status, Obese patients were more frequently married in comparison with the Non-Obese patients. Obese patients were more frequently belonging to the bipolar group than Non-Obese patients. Obese subjects also reported more frequently than Non-Obese an HCL total score >14. The effect of educational level, marital status and bipolar-unipolar distinction on the probability of Obese group membership was analyzed by stepwise logistic regression. Bipolar subtype resulted to be the strongest predictor of Obesity. Pharmacological treatments and co-morbidity with other psychiatric disorders are not explored and accounted for in our analyses. Obesity in our

  8. Depression in patients with pemphigus: is it a major concern?

    Science.gov (United States)

    Layegh, Pouran; Mokhber, Naghmeh; Javidi, Zari; Mashhadi, Mahdi Parvizi; Moghiman, Toktam

    2013-06-01

    It is suggested that some dermatological diseases due to their chronicity, impact on the body image, unlikelihood of complete recovery and frequent recurrences are one of the major predisposing factors towards depression. Therefore, we aimed to evaluate the rate and level of depression among pemphigus vulgaris and pemphigus foliaceus patients, two of the most common causes of hospitalization in dermatology units. This research was conducted on 55 patients with active pemphigus vulgaris and pemphigus foliaceus referring to pemphigus clinics or admitted as inpatients to the dermatology ward of Qaem and Imam Reza hospitals, Mashhad, Iran, from April 2008 to September 2009. The research tool was the Beck Depression Inventory. Collected data was analyzed by χ(2)-test Student's t-test. Twenty-six (47.3%) patients were female and 29 (52.7%) were male. The mean age was 42.34 ± 18.98 years. The prevalence rate of clinical depression was 28% in pemphigus vulgaris and 20% in pemphigus foliaceus cases. Depression prevalence showed no significant difference between these two groups (P = 0.873). In conclusion, pemphigus patients are at risk for mild depression. © 2013 Japanese Dermatological Association.

  9. Interaction of - α 3.7, ß Thalassemia Mutation IVS 1-5 and HbD Punjab in a Family: A Case Report

    OpenAIRE

    Pandey, S.; Ranjan, Ravi; Mishra, R. M.; Pandey, Sw.; Saxena, R.

    2012-01-01

    Hemoglobin D exist in four form; HbD trait, HbD-thalassemia, HbD sickle cell and HbD homozygous. HbD trait and HbD homozygous generally asymptomatic condition but when HbD co-inherit with thalassemia and sickle cell anemia, produces clinically significant conditions like chronic hemolytic anemia. Here we present a case of HbD Punjab with α 3.7 kb deletion and IVS-1-5 β-thalassemia across a family. Diagnosis of HbD patient was performed by high performance liquid chromatography and complete bl...

  10. Ineffective Erythropoiesis in β-Thalassemia

    Directory of Open Access Journals (Sweden)

    Jean-Antoine Ribeil

    2013-01-01

    Full Text Available In humans, β-thalassemia dyserythropoiesis is characterized by expansion of early erythroid precursors and erythroid progenitors and then ineffective erythropoiesis. This ineffective erythropoiesis is defined as a suboptimal production of mature erythrocytes originating from a proliferating pool of immature erythroblasts. It is characterized by (1 accelerated erythroid differentiation, (2 maturation blockade at the polychromatophilic stage, and (3 death of erythroid precursors. Despite extensive knowledge of molecular defects causing β-thalassemia, less is known about the mechanisms responsible for ineffective erythropoiesis. In this paper, we will focus on the underlying mechanisms leading to premature death of thalassemic erythroid precursors in the bone marrow.

  11. HAEMOGLOBIN E/ BETA - THALASSEMIA: A CASE REPORT FROM UPPER ASSAM, INDIA

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    Anju Barhai Teli

    2015-02-01

    Full Text Available We report here a patient from upper Assam region of India with Hb E / β thalassemia disease, whose father belongs to the tea garden community and mother is Assamese where Hb E is very common. The patient was suffering from severe anaemia and hepatosplenomegaly. After examination two units of blood transfusion and folic acid course were given to the patient. Patient was finally treated with c helation therapy

  12. Thalassemia in Messina: a sociological approach to chronic disease

    Directory of Open Access Journals (Sweden)

    Silvia Carbone

    2014-04-01

    Full Text Available Changing the care along with improved treatment, have altered the life of thalassemia patients, one of the world’s most common genetic diseases (Thalassemia International Federation; http://www.thalassemia.org.cy. The new demography of the disease, with its widely variable phenotypes, has implications for its diagnosis, counseling, and management. Improved of the new treatment of this ancient disease is essential for optimizing survival. From June 2010 to January 2011, we interviewed 36 people with thalassemia from a primary care in Messina (Center of Genetics and Immunology. The aim of this study is to show the results of a survey conducted in this Center in Messina. This study shows the importance of influence of a multidisciplinary approach, medical, psychological and social, that addresses the changing treatment and epidemiology of thalassemia in order to ensure a better quality of life and survival. Understanding the influence of all three types of resources, medical, psychological and social, is critical for constructing ways to enhance health capability, chronic disease self-management, and health.  以更好的护理方式改善治疗,改变了地中海贫血(一种世界上最常见的遗传性疾病)患者的生活。地中海贫血国际联合会,http://www.thalassemia.org.cy。新的疾病人口统计学方法,凭借着不同的方式地中海贫血症的诊断,咨询和管理产生了影响。对于这种古老的疾病,改善的新疗法对病人生存能力至关重要。从2010年6月至2011年1月,我们在墨西拿的一家初级保健中心(遗传学及免疫学)采访了36位地中海贫血患者。本研究的目的是在墨西拿的这家保健中心得出调查结果。研究显示了针对地中海贫血症,运用多学科方法 —— 医疗,心理和社会以确保患者拥有更好的生存力和生活质量的重要影响力。理解这三种资源的影响力 —— 医疗,心理和社会

  13. [Spinal cord compression caused by extramedullary hematopoiesis foci in the course of thalassemia].

    Science.gov (United States)

    Rey, J; Gagliano, R; Christides, C; Pillard, E; Magnan, F; Tourniaire, P; Arwidson, I; Raymond-Gelle, M C; Boulat, O; Arlaud, J

    2001-09-29

    Extramedullary haematopoiesis is a physiological response to chronic anemia, observed frequently during homozygous thalassemia. It is usually asymptomatic but can be manifested by compression of adjacent organs, particularly the spinal cord. A 44-year-old woman diagnosed with thalassaemia intermedia, was admitted for difficulties to walk and sphincter disturbances. Neurologic examination suggested spinal cord compression, which is confirmed by dorso-lumbar resonance magnetic imaging. The histology obtained by laminectomy led to the diagnosis of extramedullary hematopoiesis related to thalassemia. A radiotherapy enabled with good outcome. Spinal cord compressions by extramedullary hematopoiesis during thalassemia are uncommon (75 cases in the literature) but can induce severe sequelae if the diagnostic is not rapidly obtained. Magnetic resonance imaging is the gold standard allowing precise diagnosis and spreading of extramedullary hematopoiesis. Radiotherapy and more recently hydroxyurea are the first line treatment. This observation recalls that extramedullary hematopoiesis is a differential diagnostic of spinal cord compression in patients with thalassemia. A screening of paravertebral localization of extramedullary hematopoiesis should be performed in high risk thalassemic patients.

  14. Diagnosis of thalassemia and iron deficiency anemia using confocal and atomic force microscopy

    Science.gov (United States)

    Tariq, Saira; Bilal, Muhammad; Shahzad, Shaheen; Firdous, Shamaraz; Aziz, Uzma; Ahmed, Mushtaq

    2017-11-01

    Anemia is the most prevalent blood disorder, categorized into thalassemia and iron deficiency anemia. In anemia, the morphology of erythrocytes is disturbed, thus leading to abnormal functioning of the erythrocytes. Globally, thalassemia affects 1.3% of individuals and is one of the most widespread monogenic disorders in Pakistan. All over the World, women and children are most frequently affected by a type of nutritional deficiency known as iron deficiency anemia. The morphological changes that occur in erythrocytes due to these diseases are investigated in this study at the nano-scale level. Fifty samples of blood from individuals suffering from thalassemia or iron deficiency anemia were obtained from different hospitals in Rawalpindi and Islamabad. The blood samples were scanned using atomic force microscopy (AFM) and laser scanning confocal microscopy (LSCM) to check the morphological changes in both types of anemia. According to the present study, thalassemia is most prevalent in females in the age group between 5 and 15 years old, and iron deficiency is most prevalent in females in the age groups of 16–25 and 36–45 years old. Erythrocyte morphology is the significant determinant for diagnosing and discriminating between these two types of diseases. The study reports deformed erythrocytes in anemic patients, which were different from the ones that existed in the control. Thalassemia erythrocytes showed a crenated shape, iron deficiency anemia erythrocytes showed an elliptocyte shape and healthy erythrocytes showed a biconcave disk shape when using AFM and LSCM. These techniques seem to be very promising, cheap and less time consuming in determining the structure–function relationship of erythrocytes of thalassemic and iron deficiency anemic patients. The results of LSCM and AFM are quite useful in determining the morphological changes in erythrocytes and to study the disease at the molecular level within short period of time. Hence, we encourage

  15. Major Odorants Released as Urinary Volatiles by Urinary Incontinent Patients

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    In Young Sa

    2013-07-01

    Full Text Available In this study, volatile urinary components were collected using three different types of samples from patients suffering from urinary incontinence (UI: (1 urine (A; (2 urine + non-used pad (B; and (3 urine + used pad (C. In addition, urine + non-used pad (D samples from non-patients were also collected as a reference. The collection of urinary volatiles was conducted with the aid of a glass impinger-based mini-chamber method. Each of the four sample types (A through D was placed in a glass impinger and incubated for 4 hours at 37 °C. Ultra pure air was then passed through the chamber, and volatile urine gas components were collected into Tedlar bags at the other end. These bag samples were then analyzed for a wide range of VOCs and major offensive odorants (e.g., reduced sulfur compounds (RSCs, carbonyls, trimethylamine (TMA, ammonia, etc.. Among the various odorants, sulfur compounds (methanethiol and hydrogen sulfide and aldehydes (acetaldehyde, butylaldehyde, and isovaleraldehyde were detected above odor threshold and predicted to contribute most effectively to odor intensity of urine incontinence.

  16. A comparison of mean corpuscular volume (MCV between thalassemia-carrier and non-thalassemia-carrier pregnant women receiving highly active antiretroviral therapy (HAART

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    Yada Thongyou

    2017-12-01

    Conclusion: Post-HAART exposure, MCV increased substantially in both the thalassemia and non-thalassemia carriers. Using MCV <80 fL as the cutoff for diagnosing thalassemia, false negative results were observed in two thirds of the thalassemia carriers who were exposed to HAART for at least 4 weeks; therefore, the screening test should be interpreted with caution.

  17. Combined Therapy with Desferal and Deferiprone in Improvement of Heart Function in Thalassemic Patients

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    Shahramian Iraj

    2010-03-01

    Full Text Available Background: Cardiac complications due to iron overload are the most common causes of death in patients with major thalassemia. This study assessed the efficacy of iron chelating by desferal-L1 in improvement of cardiac function in patients with major thalassemia.Methods and Materials: Patients older then 8 years old with major thalassemia that were admitted to hematology ward of Ali-e-Asghar hospital of Zahedan in 2005-2006 and had lower than normal diastolic indices in annual echocardiography were considered as study population. During primary tests, indices of diastolic function of left and right hearts were calculated, using echocardiography with 2D, M-mode and Doppler then the patients were placed on a combination of desferal (30-40mg/kg/day two nights per week and L1 (deferiprone (75mg/kg/day, three times a day. At the end of the study, cardiac indices were calculated again. Data were using SPSS software and paired t-test and P0.05. Systolic indices of left ventricule increased significantly after treatment (P<0.05.Conclusion: In this study, after one year of treatment with a combination of desferal-L1 in patients with major thalassemia, echocardiography showed improvement in left heart systolic and diastolic function. This combination therapy prevented progression of right ventricular diastolic function abnormality

  18. beta-thalassaemia major hos børn og unge i Danmark

    DEFF Research Database (Denmark)

    Jung, Anne; Main, Katharina Maria; Scheibel, Elma

    2002-01-01

    INTRODUCTION: Beta-thalassemia major occurs with increasing frequency among Danish children as a result of immigration. The aim of the study was to estimate the occurrence of beta-thalassemia major in Denmark, analyse the treatment and organ functions, and identify areas for an improved treatment...

  19. The Spectrum of α-Thalassemia Mutations in Kermanshah Province, West Iran.

    Science.gov (United States)

    Alibakhshi, Reza; Mehrabi, Masomeh; Omidniakan, Leila; Shafieenia, Samaneh

    2015-01-01

    Thalassemia is a hereditary blood disorder that results from genetic defects causing deficient synthesis of hemoglobin (Hb) polypeptide chains. Although thalassemia mostly affects developing countries, there is limited knowledge of its accurate frequency and distribution in these regions. Knowing the prevalence of thalassemia and the frequency of responsible mutations is therefore an important step in the prevention and control program as well as treatment strategies. α-Thalassemia (α-thal) is prevalent in Middle East Asian populations, including Iran. In this study, 678 unrelated α-thal carriers, attending the Kermanshah Medical Genetics Laboratory, Kermanshah, Iran, were investigated for α-globin gene mutations by multiplex polymerase chain reaction (PCR) and direct sequencing. The most common mutation among our patients was -α(3.7) (rightward) (60.9%) deletion, which is also known to occur in high frequencies in other parts of Iran, in Southeast Asia and Mediterranean countries. Other prevalent α-thal mutations were α(-5 nt) (10.6%), α(polyA4) (9.9%), α(polyA6) (3.7%), - -(MED) (3.2%), -α(4.2) (leftward) (3.1%) deletion and codon 59 (Hb Adana; HBA1: c.179 G > A) (2.5%). These comprehensive new data are useful for establishing a screening strategy for the effective control of α-thal in Kermanshah Province.

  20. A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β-Thalassemia Mutations

    Science.gov (United States)

    Xiong, Fu; Huang, Qiuying; Chen, Xiaoyun; Zhou, Yuqiu; Zhang, Xinhua; Cai, Ren; Chen, Yajun; Xie, Jiansheng; Feng, Shanwei; Wei, Xiaofeng; Xiao, Qizhi; Zhang, Tianlang; Luo, Shiqiang; Yang, Xuehuang; Hao, Ying; Qu, Yanxia; Li, Qingge; Xu, Xiangmin

    2011-01-01

    The increasing number of disease-causing mutations demands a simple, direct, and cost-effective diagnostic genotyping technique capable of detecting multiple mutations. This study validated the efficacy of a novel melting curve analysis–based genotyping assay (MeltPro HBB assay) for 24 β-thalassemia mutations in the Chinese population. The diagnostic potential of this assay was evaluated in 1022 pretyped genomic DNA samples, including 909 clinical cases of β-thalassemia minor or major, using a double-blind analysis in a multicenter validation study. Reproducibility of the assay was 100%, and the limit of detection was 10 pg per reaction. All 24 β-thalassemia mutations were accurately genotyped, and β-thalassemia genotypes were correctly determined in all 1022 samples, yielding overall sensitivity and specificity of 100%. The concordance rate was 99.4% between this assay and the reference method. It was concluded that the MeltPro HBB assay is useful for reliable genotyping of multiple β-thalassemia mutations in clinical settings and may have potential as a versatile method for rapid genotyping of known mutations because of its high throughput, accuracy, ease of use, and low cost. PMID:21704277

  1. Hemoglobin Interlaken in combination with beta thalassemia trait

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    Mara J. Ojeda

    2013-01-01

    Full Text Available We report a rare a1 globin gene variant (Hb Interlaken found in a 63-year-old woman of Italian ancestry living in Buenos Aires Province, Argentina. The variant, a missense mutation at cd15 (GGT → GAT causing a Gly →Asp amino acid substitution and also known as Hb J Oxford, was found in combination with the common thalassemia trait cd 39 (C→T. The clinical picture of the patient was that of a b-thalassemia trait. 我们曾报道在阿根廷布宜诺斯艾利斯一名63岁意大利血统的妇女体内发现罕有的1珠蛋白基因(因特拉肯血红蛋白)变体。研究发现该变体是导致Gly → Asp氨基酸置的错义突变,也称为Hb J Oxford,与常见的地中海贫血性症cd 39 (C → T)有关。该患者临床症状与乙型地中海贫血特征相同。

  2. Soluble transferrin receptor and immature reticulocytes are not useful for distinguishing iron-deficiency anemia from heterozygous beta-thalassemia

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    Gisélia Aparecida Freire Maia de Lima

    Full Text Available Iron deficiency and heterozygous beta-thalassemia are important causes of hypochromic-microcytic anemia. Two laboratory parameters are suggested for the differentiation of such anemia. High-fluorescence reticulocyte counts and soluble transferrin receptor levels were determined in iron-deficiency anemia patients (n = 49 and heterozygous beta-thalassemia patients (n = 43. There was no significant difference in high-fluorescence reticulocyte and soluble transferrin receptor values between the two groups, but a correlation was observed between high-fluorescence reticulocytes and soluble transferrin receptors in iron-deficiency anemia, probably due to increased receptor synthesis as a response to decreased iron content in erythrocytes.

  3. Correlation of major components of ocular astigmatism in myopic patients.

    Science.gov (United States)

    Mohammadpour, Mehrdad; Heidari, Zahra; Khabazkhoob, Mehdi; Amouzegar, Afsaneh; Hashemi, Hassan

    2016-02-01

    To investigate the correlation of major components of ocular astigmatism in myopic patients in an academic hospital. This cross-sectional study was conducted on 376 eyes of 188 patients who were referred to Farabi Eye Hospital for refractive surgery. Preoperative examinations including refraction and corneal topography were performed for all candidates to measure refractive and corneal astigmatism. Ocular residual astigmatism was calculated using vector analysis. Pearson's correlation and ANOVA analysis were used to evaluate the strength of the association between different types of astigmatism. Both eyes were defined as cluster and the Generalized Estimating Equations (GEE) analysis were performed. Mean age of 119 women (63.3%) and 69 men (36.7%) was 27.8 ± 5.7 years. Mean refractive error based on spherical equivalent was -3.59 ± 1.95D (range, -0.54 to -10.22D). Mean refractive and corneal astigmatism was 1.97 ± 1.3D and 1.85 ± 1.01D, respectively. Mean amount of ORA was 0.65 ± 0.36D.There was a significant correlation between ORA and refractive astigmatism(r=0.23, p<0.001), corneal and refractive astigmatism (r=0.91, p<0.001) and a weak correlation between ORA and corneal astigmatism (r=0.13, p=0.014). There was a significant correlation between J0 and J45 values of ORA and corneal astigmatism (p<0.001). There is a significant correlation between ORA and refractive astigmatism, refractive and corneal astigmatism and a weak correlation between ORA and corneal astigmatism in refractive surgery candidates. Identifying the type of astigmatism and preoperative measurement of ocular residual astigmatism is highly