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Sample records for cap alpha thalassemia

  1. Genetics Home Reference: alpha thalassemia

    Science.gov (United States)

    ... for Disease Control and Prevention Centre for Genetics Education (Australia) Cooley's Anemia Foundation: Fact sheet about alpha thalassemia Disease InfoSearch: Alpha-Thalassemia Genomics Education Programme (UK) Information Center for Sickle Cell and ...

  2. Alpha thalassemia changes erythrocyte heterogeneity in sickle cell disease.

    OpenAIRE

    Noguchi, C T; Dover, G J; Rodgers, G P; Serjeant, G R; Antonarakis, S E; Anagnou, N P; Higgs, D R; Weatherall, D J; Schechter, A N

    1985-01-01

    Homozygous alpha-thalassemia has the beneficial effect in sickle cell anemia of reducing the hemolytic severity while changing several other hematological parameters. We examined in detail the cellular basis of some of these hematologic alterations. We find that the broad distribution in erythrocyte density and the large proportion of dense cells associated with sickle cell anemia are both reduced with coexisting alpha-thalassemia. Measurements of glycosylated hemoglobin levels as a function ...

  3. A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)).

    NARCIS (Netherlands)

    Phylipsen, M.; Vogelaar, I.P.; Schaap, R.A.; Arkesteijn, S.G.; Boxma, G.L.; Helden, W.C. van; Wildschut, I.C.; Bruin-Roest, A.C. de; Giordano, P.C.; Harteveld, C.L.

    2010-01-01

    Alpha-thalassemia is an inherited hemoglobin disorder characterized by a microcytic hypochromic anemia caused by a quantitative reduction of the alpha-globin chain. The majority of the alpha-thalassemias is caused by deletions in the alpha-globin gene cluster. A deletion in the alpha-globin gene clu

  4. Elucidating the spectrum of alpha-thalassemia mutations in Iran.

    Science.gov (United States)

    Hadavi, Valeh; Taromchi, Amir Hossein; Malekpour, Mahdi; Gholami, Behjat; Law, Hai-Yang; Almadani, Navid; Afroozan, Fariba; Sahebjam, Farhad; Pajouh, Parisa; Kariminejad, Roxana; Kariminejad, Mohammad Hassan; Azarkeivan, Azita; Jafroodi, Maryam; Tamaddoni, Ahmad; Puehringer, Helene; Oberkanins, Christian; Najmabadi, Hossein

    2007-07-01

    Alpha thalassemia (alpha-thal) is one of the most common hemoglobin (Hb) disorders in the world. Alpha-globin genes are located on chromosome 16. The majority of alpha-thal mutations are deletions but point mutations are found as well. Since the Iranian population is a mixture of different ethnic groups, frequency and distribution of alpha-globin mutations in various regions of the country need to be clarified. These findings can contribute to a wider understanding of this disorder. PMID:17606454

  5. Alpha-thalassemia mutations in Gilan Province, North Iran.

    Science.gov (United States)

    Hadavi, Valeh; Jafroodi, Maryam; Hafezi-Nejad, Nima; Moghadam, Sousan Dehnadi; Eskandari, Fatemeh; Tarashohi, Shahin; Pourfahim, Hamideh; Oberkanins, Christian; Law, Hai-Yang; Najmabadi, Hossein

    2009-01-01

    One hundred and three patients from Gilan Province, Iran, presenting with hypochromic and microcytic anemia parameters without iron deficiency were included in this study. Using gap-polymerase chain reaction (gap-PCR), reverse hybridization StripAssay and DNA sequencing, we detected a total of 113 alpha-globin mutations in 94 (91.3%) of these patients. Most prevalent of the 16 different alpha-thalassemia (alpha-thal) alleles was -alpha(3.7) (42.5%), followed by the polyadenylation signal (poly A2) (AATAAA>AATGAA) (12.4%), Hb Constant Spring [Hb CS, alpha142, Term-->Gln (TAA>CAA in alpha2] (10.6%), --(MED) (8.8%), IVS-I donor site [GAG GTG AGG>GAG G-----, alpha(-5 nt) (-TGAGG)] (7.1%), -alpha(4.2) (4.4%) and poly A1 (AATAAA>AATAAG) (3.5%). An additional nine mutations were observed at frequencies below 2%. We also found two novel alpha1 gene mutations: alpha(-9) (HBA1: c.-9 G>C) and alpha(IVS-I-4) (HBA1: c.95+4 A>G). Our new findings will be valuable for improving targeted thalassemia screening and prevention strategies in this area. PMID:19657838

  6. alpha-Thalassemia mutation analyses in Mazandaran province, North Iran.

    Science.gov (United States)

    Tamaddoni, Ahmad; Hadavi, Valeh; Nejad, Nima Hafezi; Khosh-Ain, Atefeh; Siami, Rita; Aghai-Meibodi, Jalil; Almadani, Navid; Oberkanins, Christian; Law, Hai-Yang; Najmabadi, Hossein

    2009-01-01

    Two hundred and fifty-five patients from Mazandaran Province, Iran, all presenting with hypochromic and microcytic anemia, were selected for alpha-thalassemia (alpha-thal) mutation screening. We detected a total of 274 alpha-globin mutations in 227 (89%) of these patients. Among the 21 different alpha-globin alleles found, the -alpha(3.7) (44.9%), polyadenylation signal 2 (poly A2) (AATAAA>AATGAA) (18.2%), -alpha(4.2) (9.1%), alpha(IVS-I(-5 nt)) (6.5%), - -(MED) (4.3%), and alpha(codon 19 (-G)) (4%) were the most frequent. The other 15 mutations included variants that had not yet been observed in Iran, such as Hb Bleuland [alpha108(G15)ThrAsn, ACC>AAC (alpha2)], as well as a novel mutation on the alpha2 gene, also not described to date [3 ' untranslated region (3 'UTR) nucleotide (nt) 46 (C>A)]. These comprehensive new data are useful for establishing a screening strategy for the effective control of alpha-thal in Mazandaran Province. PMID:19373587

  7. alpha-thalassemia mutations in Khuzestan Province, Southwest Iran.

    Science.gov (United States)

    Zandian, Khodamorad; Nateghi, Jamal; Keikhaie, Bijan; Pedram, Mohammad; Hafezi-Nejad, Nima; Hadavi, Valeh; Oberkanins, Christian; Azarkeivan, Azita; Law, Hai-Yang; Najmabadi, Hossein

    2008-01-01

    Although alpha-thalassemia (alpha-thal) is the most common hereditary hemoglobin (Hb) disorder in Iran, no comprehensive data are so far available on the prevalence of the disease in the province of Khuzestan in Southwest Iran. This study investigates the spectrum of alpha-thal mutations in this region. One hundred and twenty-one subjects from Khuzestan Province, Iran, were initially tested for the three most common Iranian alpha-thal mutations (- alpha3.7, -alpha4.2, and --MED) by gap-polymerase chain reaction (gap-PCR). Reverse hybridization test strips and DNA sequencing were used to identify additional alpha-globin mutations. A total of 131 mutated alpha-globin alleles were identified in these patients. Of the 13 mutations that were detected in Khuzestan Province, Iran, the - alpha3.7 single gene deletion was the most frequently identified variant, representing 62.6% of the total; we also observed significant numbers of individuals with compound heterozygous mutations. On the basis of our results, we strongly recommend screening for the most common mutations to improve the molecular diagnosis of anemia in this region.

  8. alpha-thalassemia mutations in Khuzestan Province, Southwest Iran.

    Science.gov (United States)

    Zandian, Khodamorad; Nateghi, Jamal; Keikhaie, Bijan; Pedram, Mohammad; Hafezi-Nejad, Nima; Hadavi, Valeh; Oberkanins, Christian; Azarkeivan, Azita; Law, Hai-Yang; Najmabadi, Hossein

    2008-01-01

    Although alpha-thalassemia (alpha-thal) is the most common hereditary hemoglobin (Hb) disorder in Iran, no comprehensive data are so far available on the prevalence of the disease in the province of Khuzestan in Southwest Iran. This study investigates the spectrum of alpha-thal mutations in this region. One hundred and twenty-one subjects from Khuzestan Province, Iran, were initially tested for the three most common Iranian alpha-thal mutations (- alpha3.7, -alpha4.2, and --MED) by gap-polymerase chain reaction (gap-PCR). Reverse hybridization test strips and DNA sequencing were used to identify additional alpha-globin mutations. A total of 131 mutated alpha-globin alleles were identified in these patients. Of the 13 mutations that were detected in Khuzestan Province, Iran, the - alpha3.7 single gene deletion was the most frequently identified variant, representing 62.6% of the total; we also observed significant numbers of individuals with compound heterozygous mutations. On the basis of our results, we strongly recommend screening for the most common mutations to improve the molecular diagnosis of anemia in this region. PMID:19065332

  9. Report of haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran.

    Science.gov (United States)

    Mahdavi, Mohammad Reza; Bayat, Nooshin; Hadavi, Valeh; Karami, Hosein; Roshan, Payam; Najmabadi, Hossein; Rohanizadeh, Hamed

    2012-04-01

    We report of an Iranian family with history of a rare haemoglobin variant, Haemoglobin J associated with alpha thalassemia, discovered while performing premarital thalassemia screening. In the present study we report the first case of haemoglobin J-Toronto [alpha 5 (A3) Ala > Asp] on -globin gene, found in a 16-year-old female from Mazandaran Province, North of Iran. Further investigation characterized the same mutation for mother and brother of the proband, whilst mother was also a carrier of an alpha thalassemia gene mutation (-alpha3.7). Haemoglobin J-Toronto was previously just reported from Canada and has not been found in any part of Iran. PMID:22755290

  10. Role of alpha-hemoglobin-stabilizing protein in normal erythropoiesis and beta-thalassemia.

    Science.gov (United States)

    Weiss, Mitchell J; Zhou, Suiping; Feng, Liang; Gell, David A; Mackay, Joel P; Shi, Yigong; Gow, Andrew J

    2005-01-01

    Hemoglobin (Hb) synthesis is coordinated by homeostatic mechanisms to limit the accumulation of free alpha or beta subunits, which are cytotoxic. Alpha hemoglobin-stabilizing protein (AHSP) is an abundant erythroid protein that specifically binds free alphaHb, stabilizes its structure, and limits its ability to participate in chemical reactions that generate reactive oxygen species. Gene ablation studies in mice demonstrate that AHSP is required for normal erythropoiesis. AHSP-null erythrocytes are short-lived, contain Hb precipitates, and exhibit signs of oxidative damage. Loss of AHSP exacerbates beta-thalassemia in mice, indicating that altered AHSP expression or function could modify thalassemia phenotypes in humans, a topic that is beginning to be explored in clinical studies. We used biochemical, spectroscopic, and crystallographic methods to examine how AHSP stabilizes alphaHb. AHSP binds the G and H helices of alphaHb on a surface that largely overlaps with the alpha1-beta1 interface of HbA. This result explains previous findings that betaHb can competitively displace AHSP from alphaHb to form HbA tetramer. Remarkably, binding of AHSP to oxygenated alphaHb induces dramatic conformational changes and converts the heme-bound iron to an oxidized hemichrome state in which all six coordinate positions are occupied. This structure limits the reactivity of heme iron, providing a mechanism by which AHSP stabilizes alphaHb. These findings suggest a biochemical pathway through which AHSP might participate in normal Hb synthesis and modulate the severity of thalassemias. Moreover, understanding how AHSP stabilizes alphaHb provides a theoretical basis for new strategies to inhibit the damaging effects of free alphaHb that accumulates in beta-thalassemia.

  11. Limb defects and congenital anomalies of the genitalia in an infant with homozygous alpha-thalassemia.

    Science.gov (United States)

    Abuelo, D N; Forman, E N; Rubin, L P

    1997-01-20

    We describe an infant with homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects, whose limbs demonstrate evidence of loss of tissue and abnormal morphogenesis. We propose these defects were due to either severe fetal anemia or to vascular occlusion by abnormal erythrocytes, resulting in hypoxia of the developing distal limbs and genitalia.

  12. Concurrent sickle cell anemia and alpha-thalassemia. Effect on pathological properties of sickle erythrocytes.

    OpenAIRE

    Embury, S H; Clark, M R; Monroy, G; Mohandas, N

    1984-01-01

    The concurrence of sickle cell anemia and alpha-thalassemia results in less severe hemolytic anemia apparently as a result of reduced intraerythrocytic concentration of hemoglobin S and its retarded polymerization. We have evaluated the effect of alpha-globin gene number on several interrelated properties of sickle erythrocytes (RBC) that are expected to correlate with the hemolytic and rheologic consequences of sickle cell disease. The irreversibly sickled cell number, proportion of very den...

  13. MFTF-. cap alpha. + T progress report

    Energy Technology Data Exchange (ETDEWEB)

    Nelson, W.D. (ed.)

    1985-04-01

    Early in FY 1983, several upgrades of the Mirror Fusion Test Facility (MFTF-B) at Lawrence Livermore National Laboratory (LLNL) were proposed to the fusion community. The one most favorably received was designated MFTF-..cap alpha..+T. The engineering design of this device, guided by LLNL, has been a principal activity of the Fusion Engineering Design Center during FY 1983. This interim progress report represents a snapshot of the device design, which was begun in FY 1983 and will continue for several years. The report is organized as a complete design description. Because it is an interim report, some parts are incomplete; they will be supplied as the design study proceeds. As described in this report, MFTF-..cap alpha..+T uses existing facilities, many MFTF-B components, and a number of innovations to improve on the physics parameters of MFTF-B. It burns deuterium-tritium and has a central-cell Q of 2, a wall loading GAMMA/sub n/ of 2 MW/m/sup 2/ (with a central-cell insert module), and an availability of 10%. The machine is fully shielded, allows hands-on maintenance of components outside the vacuum vessel 24 h after shutdown, and has provisions for repair of all operating components.

  14. Trafficking of. cap alpha. -L-fucosidase in lymphoid cells

    Energy Technology Data Exchange (ETDEWEB)

    DiCioccio, R.A.; Brown, K.S.

    1987-05-01

    The quantity of ..cap alpha..-L-fucosidase in human serum is determined by heredity. The mechanism controlling levels of the enzyme in serum is unknown. To investigate this, lymphoid cell lines derived from individuals with either low, intermediate or high ..cap alpha..-L-fucosidase in serum were established. Steady state levels of extracellular ..cap alpha..-L-fucosidase protein and activity overlapped among the cell lines. Thus, in vivo serum phenotypes of ..cap alpha..-L-fucosidase are not adequately expressed in this system. ..cap alpha..-L-Fucosidase was also metabolically labelled with /sup 35/S-methionine, immunoprecipitated, and examined by SDS-PAGE. Cells pulse-labelled from 0.25-2 h had a major intracellular form of enzyme (Mr = 58,000). Cells pulsed for 1.5 h and chased for 21 h with unlabeled methionine had an intracellular form of Mr = 60,000 and an extracellular form of Mr = 62,000. Cells treated with chloroquine had only the 58,000-form both intra- and extra-cellularly. Moreover, chloroquine did not effect the quantitative distribution of ..cap alpha..-L-fucosidase between cells and medium. In fibroblasts, chloroquine enhanced the secretion of newly made lysosomal enzymes and blocked the processing of intercellular enzyme forms from a higher to a lower molecular mass. Thus, there are trafficking differences between ..cap alpha..-L-fucosidase in lymphoid cells and lysosomal enzymes in fibroblasts. This suggests that alternative targeting mechanisms for lysosomal enzymes exist in these cells.

  15. Beta-globin gene haplotypes and alpha-thalassemia analysis in Babinga pygmies from Congo-Brazzaville.

    Science.gov (United States)

    Mouélé, R; Bodo, J M; Mpelé, D M; Feingold, J; Galactéros, F

    2000-04-01

    We analyzed beta-globin gene cluster haplotypes and deletional alpha+-thalassemia (-alpha3.7kb) in 54 Babinga pygmy subjects from Congo-Brazzaville. The beta(S)-globin gene frequency was 0.065 and that of the deletional alpha-globin gene (-alpha3.7kb) was 0.29. Eighty-five percent of the beta(S) chromosomes and 13% of the beta(A) chromosomes were associated with the Bantu haplotype, 10% of beta(A) chromosomes with the Senegal haplotype, and the remaining beta chromosomes with atypical haplotypes. None of the chromosomes were of the Benin haplotype. These results are clearly of anthropological and evolutionary interest. They also support earlier observations that alpha+-thalassemia is prevalent at a high frequency in African populations.

  16. [Importance of the molecular diagnosis in the screening of alpha-thalassemia].

    Science.gov (United States)

    Dell'Edera, Domenico; Malvasi, Antonio; Tinelli, Andrea; Mazzone, Eleonora; Leo, Manuela; Monti, Vito; Epifania, Annunziata Anna

    2011-01-01

    The term alpha thalassemia refers to inherited disorders of hemoglobin caused by reduced or absent synthesis of alpha globin chains. This paper highlights that in the presence of a alfa2-Tal (-α/αα), called the silent, the biochemical diagnosis turns out to be insufficient. In these cases, the molecular study of alpha-globin genes is necessary for identification. In reason of this we present the following case report. A woman of 29 years, pregnant at 12(a) weeks, arrived at our observation to undergo prenatal screening test for Down and Edwards syndromes (bitest). The medical history of the couple revealed that both had doubts haematological indices: Mr. T.G. had a biochemical framework related to alpha1-Tal (MCV 58.8fl, MCH 19.8pg, HbA2: 1.9, HbF:0.4, erythrocytes 6.58x10(6)/ul ed Hb 13g/dl), which was confirmed by molecular analysis (genotype alfa(0-20.5Kb)). Particular difficulties of interpretation presented the C.F. patient who had a biochemical phenotype border line (MCV 79.8fl, MCH 27.2pg, HbA2: 2.9, HbF: 0.6, erythrocytes 5.11x10(6)/ul, Hb 12.8 g/dl). Only molecular analysis has found with certainty that Mrs. C.F. appeared to be phenotypically alpha2-TAL (-α/αα) for the presence of the mutation "alfa2 init.Cd(T>C) NcoI". In the event, as in our case, there is a couple where one spouse is alpha2-TAL (-α/αα) and the other alpha1-TAL (--/αα), must have to inform the couple about the possibility of conceiving a child with hemoglobin H (HbH). Far from the authors refer to the idea of prenatal diagnosis for couples at risk to bear children with HbH, but it is worth highlighting the importance of a careful study of the blood parameters and an extensive and precise information about the clinical implications related to complications of alpha thalassemia. PMID:21779123

  17. HB KURDISTAN [ALPHA-47(CE5)ASP-]TYR], A NEW ALPHA-CHAIN VARIANT IN COMBINATION WITH BETA-THALASSEMIA

    NARCIS (Netherlands)

    GIORDANO, PC; HARTEVELD, CL; STRENG, H; Oosterwijk, Jan; HEISTER, JGAM; AMONS, R; BERNINI, LF

    1994-01-01

    We have characterized the structural abnormality of a new alpha chain mutant found in a Kurdish; family. The clinical and hematological investigation of eight individuals have shown that the a variant is associated with a beta degrees-thalassemia mutation (nonsense codon 39). The tryptic peptide map

  18. Mechanism of radiation graft of methyl-. cap alpha. -fluoroacrylate and. cap alpha. ,. beta. ,. beta. -trifluorostyrene on perfluorinated copolymer. [Cobalt 60

    Energy Technology Data Exchange (ETDEWEB)

    Ivankin, A.N.; Tevlina, A.S.; Zagorets, P.A. (Moskovskij Khimiko-Tekhnologicheskij Inst. (USSR))

    1983-04-01

    The kinetics of radiation-induced graft copolymerization of methyl-..cap alpha..-fluoroacrylate and ..cap alpha.., ..beta.., ..beta..-trifluorostyrene to perfluorinated copolymer of hexafluoropropylene with tetrafluoroethylene has been studied. The orders of the grafting reaction towards the monomer and dose rate as well as the values of rate constants of radiation-induced grafting at various temperatures were determined, the effective activation energy of grafting (20.6 kJ/mol) was calculated. The kinetic scheme of elementary acts of radiation-induced graft copolymerization is discussed.

  19. Dificuldades na identificação laboratorial da talassemia alfa Difficulty on laboratory identification of alpha thalassemia

    Directory of Open Access Journals (Sweden)

    Karlla Greick Batista Dias-Penna

    2010-04-01

    Full Text Available Introdução: Talassemia alfa é uma síndrome associada à redução da síntese de cadeias de globina do tipo alfa. A gravidade das manifestações clínicas está relacionada com a quantidade de globinas produzida e a estabilidade das cadeias beta presentes em excesso. A talassemia alfa mínima resulta da deleção de apenas um dos quatro genes a (-α/αα. Clinicamente apresenta anemia leve com microcitose ou ausência de anemia, sendo o diagnóstico realizado por meio de visualização da hemoglobina (Hb H por eletroforese alcalina em acetato de celulose ou por identificação de inclusões celulares de Hb H coradas pelo azul de crezil brilhante. Objetivo: Avaliar portadores de talassemia alfa e seus respectivos progenitores, correlacionando perfil hematológico e presença de Hb H, utilizando procedimentos laboratoriais clássicos em três diferentes amostragens. Discussão e conclusão: Os dados obtidos mostram que a presença de Hb H, indicativo de talassemia alfa, pode não ser confirmada em uma análise posterior. Entre os fatores que podem influenciar no não aparecimento de Hb H em pessoa comprovadamente com talassemia alfa está a deficiência de ferro. A talassemia alfa está associada a defeitos envolvendo os genes codificadores da cadeia alfa, mas também pode estar relacionada com desbalanciamento temporário na expressão dos genes globina, diminuição de alfa ou aumento de beta, o que poderia explicar o aparecimento de tetrâmeros de cadeia beta (Hb H, sugerindo diagnóstico de talassemia alfa mínima.Introduction: Alpha thalassemia is a syndrome with associated with the reduction of alpha globin chain synthesis. The severity of clinical manifestations is related to the amount of globins produced and the stability of beta chains that are present in excess. Alpha thalassemia minor is caused by the deletion of one of the four genes a (-α/αα. Clinically, it presents mild anemia with microcytosis or absence of anemia. The

  20. [Rapid development of anemia in a HIV-positive patient with alpha-thalassemia after zidovudine therapy].

    Science.gov (United States)

    Altinbaş, Akif; Ozkaya, Gülşen; Büyükaşik, Yahya; Unal, Serhat

    2007-07-01

    Anemia, which may develop due to direct effect of the virus or indirect effect of zidovudine a widely used antiviral agent for the treatment, is not an uncommon complication in human immundeficiency virus (HIV) infections. In this report, a 26 years old male HIV positive patient who developed rapid anemia in the HAART (Highly active anti-retroviral therapy) protocol including zidovudine, was presented. The patient has been followed since May 2003 without anti-retroviral therapy. He was diagnosed as alpha-thalassemia trait, because of the low mean red blood cell volume (MCV), high red blood cell count and living in an Mediterranian country. However, no treatment for thalassemia had been given in this period, since the other laboratory findings [hemoglobin, hematocrit, red cell distribution width index (RDWI), iron and iron binding capacity, transferrin saturation and ferritin levels] were normal. During the follow-up of patient, HAART protocol with zidovudine, lamivudine and indinavir, was started depending on the findings of low CD4+ T-cell count (443/mm3) and high HIV serum load (1,330,000 copies/ml). In the second month of the therapy the hemoglobin level decreased to 12.9 gr/dL, and then to 9.9 gr/dL in the fourth month, while it was 14.5 gr/dL before anti-retroviral therapy. Although the patient had no hemolysis findings, and his serum folic acid level was normal, folbiol treatment was initiated with the possibility of the presence of folic acid deficiency at cellular level. Anemia resolved with folic acid replacement without discontinuation of zidovudine or a reduction in dosage. It was thought that the presence of alpha-thalassemia co-morbidity has facilitated the development of anti-retroviral-induced anemia in this patient. As a result, it is concluded that thalassemia should be considered in the differential diagnosis of anemia in HIV positive patients, especially for the ones from Mediterranian countries.

  1. Radioimmunoassay determination of decreased amounts of. cap alpha. -L-fucosidase protein in fucosidosis

    Energy Technology Data Exchange (ETDEWEB)

    Andrews-Smith, G.L.; Alhadeff, J.A. (California Univ., San Diego, La Jolla (USA). Dept. of Neurosciences)

    1982-03-15

    Purified human liver ..cap alpha..-L-fucosidase (EC 3.2.1.51) has been radioiodinated by a chloramine-T procedure to a specific activity of 3.7 x 10/sup 6/ dpm/..mu..g protein without altering its apparent Michaelis constant for the 4-methylumbelliferyl substrate. This /sup 125/I-labeled ..cap alpha..-L-fucosidase has been used in development of a competitive binding radioimmunoassay for ..cap alpha..-L-fucosidase which can detect 1-2 ng of enzyme protein and has been employed to quantify the amount of ..cap alpha..-L-fucosidase protein in the liver and spleen from a patient with fucosidosis. Less than 1% of the normal amount of ..cap alpha..-L-fucosidase protein is present suggesting that normal amounts of catalytically inactive ..cap alpha..-L-fucosidase are not found in this disease.

  2. Concept of a (1-. cap alpha. ) performance confidence interval

    Energy Technology Data Exchange (ETDEWEB)

    Leong, H.H.; Johnson, G.R.; Bechtel, T.N.

    1980-01-01

    A multi-input, single-output system is assumed to be represented by some model. The distribution functions of the input and the output variables are considered to be at least obtainable through experimental data. Associated with the computer response of the model corresponding to given inputs, a conditional pseudoresponse set is generated. This response can be constructed by means of the model by using the simulated pseudorandom input variates from a neighborhood defined by a preassigned probability allowance. A pair of such pseudoresponse values can then be computed by a procedure corresponding to a (1-..cap alpha..) probability for the conditional pseudoresponse set. The range defined by such a pair is called a (1-..cap alpha..) performance confidence interval with respect to the model. The application of this concept can allow comparison of the merit of two models describing the same system, or it can detect a system change when the current response is out of the performance interval with respect to the previously identified model. 6 figures.

  3. ACTH and. cap alpha. -melanotropin in central temperature control

    Energy Technology Data Exchange (ETDEWEB)

    Lipton, J.M.; Glyn, J.R.; Zimmer, J.A.

    1981-11-01

    Adrenocorticotropin (ACTH) and ..cap alpha..-melanotropin (..cap alpha..-MSH) occur in brain tissue known to be important to temperature control. These peptides cause hypothermia if they are injected centrally in sufficient doses, but they do not act on the central set point of temperature control. Instead they appear to inhibit central pathways for heat conservation and production. In addition to their hypothermic capability, these peptides are antipyretic when given centrally in doses that have no effect on normal body temperature. ACTH has previously been associated with fever reduction in both clinical and experimental studies, and it may be that endogenous central ACTH is important for limitation of maximal fever. The hypothermic and antipyretic effects of ACTH do not depend on stimulation of the adrenal cortex because they are also observed in adrenalectomized rabbits. Nor is the antipyretic effect limited to the rabbit inasmuch as a comparable effect has been demonstrated in the squirrel monkey. The two peptides may be involved in central mediation of normal thermoregulation and fever, perhaps limiting the febrile response and other rises in body temperature by acting as neurotransmitters or neuromodulators in central thermoregulatory pathways.

  4. Hemoglobinas AS/alfa talassemia: importância diagnóstica Hemoglobins AS/alpha thalassemia: diagnostic importance

    Directory of Open Access Journals (Sweden)

    Renata Tomé-Alves

    2000-12-01

    , the Sickle Cell beta Thalassemia syndromes, and Hemoglobinopathies in which hemoglobin S is in association with another abnormal hemoglobin, such as hemoglobin S/C. The Sickle Cell trait (hemoglobin AS associated with Alpha Thalassemia presents alterations in the red blood cells morphology, usually absent in the heterozygous for this hemoglobin variant. The interaction between hemoglobin S and alpha Thalassemia has been described as one of the factors responsible for the improvement in the clinical picture of homozygous of hemoglobin S (Sickle Cell Anemia, decreasing the number of episodes of pain. The genetic mechanisms of this influence are evaluated using molecular analyses of the human globin genes. With the objective of verifying the presence of alpha Thalassemia in heterozygous of hemoglobin S, with anemia, sent to the Laboratory of Hemoglobins, Department of Biology, UNESP, São José do Rio Preto, SP, we analyzed 1002 blood samples with Sickle Cell trait, in the period from 1990 to 1998. The samples were picked with EDTA 5% as anticoagulant, after previous authorization of the carriers. Appropriated counseling and management requires definitive diagnosis. For the laboratorial diagnosis the blood samples were submitted to electrophoretic procedures in alkaline and acid pH and cytological evaluation of hemoglobin H. The electrophoretic procedures confirmed the presence of hemoglobin AS. The cytological evaluation evidenced the presence of alpha Thalassemia. Of this total analyzed, 16(1,59% blood samples presented the association between hemoglobin AS and alpha Thalassemia and two individuals belonged of the same family. Our results addressed us to suggest to the routine laboratories, that is important to accomplish the research of alpha Thalassemia among the Sickle Cell trait, with anemia, to verify the interaction with alpha Thalassemia, supplying to the carriers a important information on its hematological profile, genetic pattern of hemoglobinopathies and the

  5. Subtypes of Alpha Thalassemia Diagnosed at a Medical Center in Jordan

    Directory of Open Access Journals (Sweden)

    Mohammed wael Abu-Ghoush

    2008-10-01

    Full Text Available BACKGROUND: This retrospective analysis study provides the molecular genetics of α-Thalassemia Mutations and identify the genotype of HbH disease in a group of patients at a Medical Center in Jordan. METHODS: A total of 430 subjects were studied. HbH disease was confirmed by Electrophoresis, HPLC and the demonstration of HbH inclusion bodies by supra vital staining. DNA analysis was performed using polymerase chain reaction, restriction enzyme digestion, followed by agarose gel electrophoresis and by reverse- hybridization assay to diagnose and confirm cases suspected α-thalassemia. RESULTS: Four hundred and thirty cases were found to be α-thalassemia trait and this was confirmed by Polymerase Chain Reaction, five different α- thalassemia determinants were observed. Thirty three cases were diagnosed as HbH disease. CONCLUSION: This study helps in the prediction of the phenotype severity by identifying the genotype of HbH patients .The results of the study can be also applied for the genetic counseling to prospective patients with HbH disease, since in severe cases the need may be arise for prenatal diagnosis in population. [TAF Prev Med Bull 2008; 7(5.000: 373-376

  6. Study of /sup 3/H+. cap alpha. and /sup 3/He+. cap alpha. elastic scattering in a state with zero orbital angular momentum

    Energy Technology Data Exchange (ETDEWEB)

    Chopovskii, L. L.

    1988-12-01

    An asymptotic wave function of the relative motion of clusters at zero interaction energy is derived in the oscillator representation. The set of equations of the algebraic version of the resonating-group method (RGM) is transformed to the zero-energy limit of the relative cluster motion. The /sup 3/H+..cap alpha.. and /sup 3/He+..cap alpha.. scattering lengths are calculated in the single-channel RGM variant on the basis of the derived equations. The possibility of experimentally observing large scattering lengths for light charged clusters is predicted, viz., /similar to/10--23 F in the /sup 3/H+..cap alpha.. channel and /similar to/30--82 F in the /sup 3/He+..cap alpha.. channel.

  7. Elevated Middle Cerebral Artery Peak Systolic Velocity in a Nonanemic Fetus with Alpha-Thalassemia Trait

    OpenAIRE

    Kent Heyborne

    2009-01-01

    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 pro...

  8. Deletional rearrangement in the human T-cell receptor. cap alpha. -chain locus

    Energy Technology Data Exchange (ETDEWEB)

    de Villartay, J.P.; Lewis, D.; Hockett, R.; Waldmann, T.A.; Korsmeyer, S.J.; Cohen, D.I.

    1987-12-01

    The antigen-specific receptor on the surface of mature T lymphocytes is a heterodimer consisting of polypeptides termed ..cap alpha.. and ..beta... In the course of characterizing human T-cell tumors with an immature (CD4/sup -/, CD8/sup -/) surface phenotype, the authors detected a 2-kilobase ..cap alpha..-related transcript. Analysis of cDNA clones corresponding to this transcript established that a genetic element (which they call TEA, for T early ..cap alpha..) located between the ..cap alpha..-chain variable- and joining-region genes had been spliced to the ..cap alpha.. constant region. The TEA transcript is present early in thymocyte ontogeny, and its expression declines during T-cell maturation. More important, the TEA area functions as an active site for rearrangement within the ..cap alpha.. gene locus. Blot hybridization of restriction enzyme-digested DNA with a TEA probe revealed a narrowly limited pattern of rearrangement in polyclonal thymic DNA, surprisingly different from the pattern expected for the mature ..cap alpha.. gene with its complex diversity. These DNA blots also showed that TEA is generally present in the germ-line configuration in cells expressing the ..gamma..delta heterodimeric receptor and is deleted from mature (..cap alpha beta..-expressing) T-lymphocyte tumors and lines. Moreover, the TEA transcript lacked a long open reading frame for protein but instead possessed multiple copies of a repetitive element resembling those utilized in the heavy-chain class switch of the immunoglobulin genes. The temporal nature of the rearrangements and expression detected by TEA suggests that this recombination could mediate a transition between immature (..gamma..delta-expressing) T cells and mature (..cap alpha beta..-expressing) T cells.

  9. Structure of. cap alpha. -phase in two-phase titanium alloys

    Energy Technology Data Exchange (ETDEWEB)

    Gridnev, V.N.; Ivasishin, O.M.; Svechnikov, V.L. (AN Ukrainskoj SSR, Kiev. Inst. Metallofiziki)

    1982-08-01

    The structure of ..cap alpha..-phase in ..beta..-annealed titanium alloys VT 6 and VT 23 and its changes on heating up to ..cap alpha..+..beta.. ..-->.. ..beta.. transformation temperatures with accelerated cooling is studied. An assumption is made that the observed peculiarities of the residual ..cap alpha..-phase structure in alloys after such treatment are the consequence of the relaxation of interphase stresses resulting from a partial polymorphic transformation while the relaxation mechanism is determined by the alloying degree and initial alloy morphology.

  10. Regulation of the synthesis of barley aleurone. cap alpha. -amylase by gibberellic acid and calcium ions

    Energy Technology Data Exchange (ETDEWEB)

    Jones, R.L.; Carbonell, J.

    1984-09-01

    The effects of gibberellic acid (GA/sub 3/) and calcium ions on the production of ..cap alpha..-amylase and acid phosphatase by isolated aleurone layers of barley (Hordeum vulgare L. cv Himalaya) were studied. Aleurone layers not previously exposed to GA/sub 3/ or CA/sup 2 +/ show qualitative and quantitative changes in hydrolase production following incubation in either GA/sub 3/ or CA/sup 2 +/ or both. In cubation in H/sub 2/O or CA/sup 2 +/ results in the production of low levels of ..cap alpha..-amylase or acid phosphatase. The addition of GA/sub 3/ to the incubation medium causes 10- to 20-fold increase in the amounts of these enzymes released from the tissue, and addition of CA/sup 2 +/ at 10 millimolar causes a further 8- to 9-fold increase in ..cap alpha..-amylase release and a 75% increase in phosphatase release. Production of ..cap alpha..-amylase isoenzymes is also modified by the levels of GA/sub 3/ and CA/sup 2 +/ in the incubation medium. ..cap alpha..-amylase 2 is produced under all conditions of incubation, while ..cap alpha..-amylase 1 appears only when layers are incubated in GA/sub 3/ or GA/sub 3/ plus CA/sup 2 +/. The synthesis of ..cap alpha..-amylases 3 and 4 requires the presence of both GA/sub 3/ and CA/sup 2 +/ in the incubation medium. Laurell rocket immunoelectrophoresis shows that two distinct groups of ..cap alpha..-amylase antigens are present in incubation media of aleurone layers incubated with both GA/sub 3/ and CA/sup 2 +/, while only one group of antigens is found in media of layers incubated in GA/sub 3/ alone. Strontium ions can be substituted for CA/sup 2 +/ in increasing hydrolase production, although higher concentrations of Sr/sup 2 +/ are requried for maximal response. We conclude that GA/sub 3/ is required for the production of ..cap alpha..-amylase 1 and that both GA/sub 3/ and either CA/sup 2 +/ or Sr/sup 2 +/ are required for the production of isoenzymes 3 and 4 of barley aleurone ..cap alpha..-amylase. 22 references, 8

  11. Interaction of radiation damage with strain field around. cap alpha. -precipitates in electron-irradiated. beta. -Nb-Zr alloys

    Energy Technology Data Exchange (ETDEWEB)

    Nakai, K.; Kinoshita, C.; Kitajima, S.; Muroo, Y. (Kyushu Univ., Fukuoka (Japan). Dept. of Nuclear Engineering)

    1985-05-01

    The strain field around ..cap alpha..-precipitates (hcp) in the ..beta..-Nb-Zr phase has been evaluated to study its relaxation mechanism during electron irradiation in a high voltage electron microscope. The crystallography of the ..cap alpha..-precipitates is determined to be of Burgers' orientation relationship with the ..beta..-phase. The compressive strain field around the ..cap alpha..-precipitates is detected and determined by use of the strain contrast of electron microscopy and the elastic continuum theory. The relaxation process of the strain field around the ..cap alpha..-precipitates is observed during electron irradiation, and is analyzed in terms of accumulation of vacancies.

  12. Pressure phase lines and enthalpies for the. cap alpha. -. beta. and. beta. -liquid transitions in beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Abey, A.

    1984-10-31

    The effect of hydrostatic pressure on the ..cap alpha..-..beta.. and ..beta..-liquid transition temperatures in Be was measured in a gas pressure system. Differential thermal analysis was used in the pressure range from 0.1 MPa to 0.7 GPa. For the ..cap alpha..-..beta.. transition, dT/dP = 43 +- 7 K/GPa; for the ..beta..-liquid transition, dT/dP = 35 +- 7 K/GPa. Although it is possible that large systematic errors may arise from experimental procedures, our results are seriously at odds with those of other investigators. Transition enthalpies for the ..cap alpha..-..beta.. and ..beta..-liquid transitions were 1.9 +- 0.2 and 2.2 +- 0.2 kcal/g.m., respectively, at a pressure of 0.1 MPa.

  13. Biological activity of 1. cap alpha. -hydroxyvitamin D/sub 2/ in the rat

    Energy Technology Data Exchange (ETDEWEB)

    Reeve, L.E.; Schnoes, H.K.; DeLuca, H.F.

    1978-01-01

    The biological activity of 1..cap alpha..-hydroxyvitamin D/sub 2/ has been determined in vitamin D-deficient rats. In the calcification of the rachitic epiphyseal plate, 1..cap alpha..-hydroxyvitamin D/sub 2/ is more active than 25-hydroxyvitamin D/sub 3/, while it is equally active in stimulating intestinal calcium absorption. On the other hand, it is much less active (one-third to one-fifth) than 25-hydroxyvitamin D/sub 3/ in the mobilization of calcium from bone. In both the intestinal and bone responses, 1..cap alpha..-hydroxyvitamin D/sub 2/ (312 pmol) is active in nephrectomized rats while 15-hydroxyvitamin D/sub 3/ is not.

  14. Transport of. cap alpha. -aminoisobutyric acid into rat parotid after X-irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Bodner, Lipa

    1989-04-01

    Rat parotid gland exposed to 20 Gy X-irradiation exhibits functional alteration 3 days after exposure. The flow rate of saliva and the uptake of ..cap alpha..-aminoisobutyric acid by the gland was reduced to 50% of values for the control non-irradiated glands. When the same gland was studied in an in vitro system it functioned normally. K/sup +/ release and ..cap alpha..-aminoisobutyric acid uptake by the irradiated dispersed acinar cells was comparable to the control. Transport alteration from the circulatory system into the parotid gland may cause the initial radiation-induced damage.

  15. Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

    Science.gov (United States)

    Basehore, M J; Michaelson-Cohen, R; Levy-Lahad, E; Sismani, C; Bird, L M; Friez, M J; Walsh, T; Abidi, F; Holloway, L; Skinner, C; McGee, S; Alexandrou, A; Syrrou, M; Patsalis, P C; Raymond, G; Wang, T; Schwartz, C E; King, M-C; Stevenson, R E

    2015-05-01

    Alpha-thalassemia intellectual disability, one of the recognizable X-linked disability syndromes, is characterized by short stature, microcephaly, distinctive facies, hypotonic appearance, cardiac and genital anomalies, and marked skewing of X-inactivation in female carriers. With the advent of next generation sequencing, mutations have been identified that result in less severe phenotypes lacking one or more of these phenotypic manifestations. Here we report five unrelated kindreds in which a c.109C>T (p.R37X) mutation segregates with a variable but overall milder phenotype. The distinctive facial appearance of alpha-thalassemia intellectual disability was present in only one of the 18 affected males evaluated beyond the age of puberty, although suggestive facial appearance was present in several during infancy or early childhood. Although the responsible genetic alteration is a nonsense mutation in exon 2 of ATRX, the phenotype appears to be partially rescued by the production of alternative transcripts and/or other molecular mechanisms. PMID:24805811

  16. Effect of heating rate on temperature of titanium alloy (. cap alpha. +. beta. ). -->. beta. transformaton

    Energy Technology Data Exchange (ETDEWEB)

    Gridnev, V.N.; Ivasishin, O.M.; Markovskij, P.E. (AN Ukrainskoj SSR, Kiev. Inst. Metallofiziki)

    1985-01-01

    The effect of doping of two-phase titaniums alloys and morphology of initial structure on the Tsub(t) temperature shift value of (..cap alpha..+..beta..)..--> beta.. transformation depending on heating rate is investigated. It has been found that the Tsub(t) shift occurs in the strictly determined temperature range depending on chemical alloy composition. The Tsub(t) shift is directly proportional to the Ksub(..beta..) coefficient applied as a quantitative alloying characteristic as well as a dimensional factor equal either to the plate thickness or the ..cap alpha..-phase globule diameter depending on the type of initial structure. In the limits of this temperature range the (..cap alpha..+..beta..)..--> beta..-transformation occurs completely according to the diffusion mechanism. The critical heating rate at which maximum permissible Tsub(t) value is attained and above which its stabilization is observed is determined by the same parameters - the alloy doping degree characterized by the Ksub(..beta..) coefficient and the ..cap alpha..-phase crystal dimensions in the initial structure.

  17. Alpha thalassemia protects sickle cell anemia patients from macro-albuminuria through its effects on red blood cell rheological properties.

    Science.gov (United States)

    Lamarre, Yann; Romana, Marc; Lemonne, Nathalie; Hardy-Dessources, Marie-Dominique; Tarer, Vanessa; Mougenel, Danielle; Waltz, Xavier; Tressières, Benoît; Lalanne-Mistrih, Marie-Laure; Etienne-Julan, Maryse; Connes, Philippe

    2014-01-01

    While chronic hemolysis has been suspected to be involved in the development of glomerulopathy in patients with sickle cell anemia (SCA), no study focused on the implications of blood rheology. Ninety-six adults with SCA at steady state were included in the present cross-sectional study. Three categories were defined: normo-albuminuria (NORMO, n = 41), micro-albuminuria (MICRO, n = 23) and macro-albuminuria (MACRO, n = 32). Blood was sampled to measure hematological and hemorheological parameters, and genomic DNA extraction was performed to detect the presence of α-thalassemia. The prevalence of α-thalassemia was lower in the MACRO group compared with the two other groups. Anemia was more severe in the MACRO compared with the NORMO group leading the former group to exhibit decreased blood viscosity. Red blood cell deformability was lower and red blood cell aggregates strength was greater in the MACRO compared to the two other groups, and this was directly attributed to the lower frequency of α-thalassemia in the former group. Our results show the protective role of α-thalassemia against the development of sickle cell glomerulopathy, and strongly suggest that this protection is mediated through the decrease of anemia, the increase of RBC deformability and the lowering of the RBC aggregates strength.

  18. Agonist-promoted desensitization and phosphorylation of. cap alpha. /sub 1/-adrenergic receptors coupled to stimulation of phosphatidylinositol metabolism

    Energy Technology Data Exchange (ETDEWEB)

    Leeb-Lundberg, L.M.F.; Cotecchia, S.; Caron, M.G.; Lefkowitz, R.J.

    1986-03-05

    In the DDT/sub 1/ MF-2 hamster vas deferens smooth muscle cell line the ..cap alpha../sub 1/-adrenergic receptor (..cap alpha../sub 1/-AR) agonist norepinephrine (NE) promotes rapid attenuation of ..cap alpha../sub 1/-AR-mediated phosphatidylinositol (PI) metabolism which is paralleled by rapid phosphorylation of the ..cap alpha../sub 1/-AR. Cells were labeled by incubation with /sup 32/P/sub i/. Coincubation with NE (100 ..mu..M) significantly increases the rate of /sup 32/P-labeling of both PI and phosphatidic acid. Pretreatment of cells with 100 ..mu..M NE (in the presence of 1 ..mu..M propranolol to prevent ..beta..-AR interactions) results in a drastic attenuation of the NE response on PI metabolism. ..cap alpha../sub 1/-AR from labeled cells can be solubilized and purified by affinity chromatography on Affigel-A55414 and wheat germ agglutinin agarose chromatography. SDS-PAGE of purified ..cap alpha../sub 1/-AR shows a NE-promoted increase in phosphorylation of the M/sub r/ 80K ligand binding peptide. Stoichiometry of phosphorylation increases from approx. 1 mol phosphate/mol ..cap alpha../sub 1/-AR in the basal condition to approx. 2.5 after NE treatment. Both desensitization and phosphorylation are rapid being maximal within 10-20 min of agonist exposure. These results together with previous findings that phorbol esters promote rapid ..cap alpha../sub 1/-AR uncoupling and phosphorylation suggest that receptor phosphorylation is an important mechanism of regulation of ..cap alpha../sub 1/-AR receptor responsiveness.

  19. [A case of X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome with repeated apnea attacks due to laryngomalacia].

    Science.gov (United States)

    Ebishima, Yuko; Misaki, Takako; Owa, Kenji; Okuno, Takehiko; Wada, Takahito; Suehiro, Yutaka

    2013-01-01

    We report a case of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) with repeated apnea attacks dating from the patient's 12th year. We initially diagnosed them as obstructive apnea due to upper pharyngeal stenosis and laryngomalacia by polysomnography and laryngo-fiberscopy. However, reevaluation after one and a half years revealed that the boy had central and mixed apnea, as well as obstructive apnea. To date, few reports have been published on the causes of apnea attacks in ATR-X patients. We clinicians should therefore consider laryngomalacia as one cause of apnea attacks in ATR-X patients, and choose the appropriate therapy for a pattern of apnea that can change during its clinical course. PMID:23593745

  20. Radiation electromagnetic effect in germanium crystals under high-energy. cap alpha. -particle irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Kikoin, I.K.; Babichenko, V.S.; Kikoin, L.I.; Lazarev, S.D.; Rzhanov, A.E.; Filippov, V.I.

    1984-05-01

    Results of experimental investigation into radiation electromagnetic effect (REM) in samples of germanium crystals under approximately 40 MeV ..cap alpha..-particle irradiation in a cyclotron are presented. A high level of excitation, volumetric character of generation of non-equilibrium carriers and formation of defects as well as the form of their spatial distribution are shown to result in some peculiarities of the EMF of the REM effect on the particle flux, fluence and sample parameters. Agreement of theoretical calculations, conducted with account of specificity of ..cap alpha..-particle interaction with a crystal, and experimental data is obtained. It is revealed that the REM effect can be applied in obtaining data on spatial distribution of non-equilibrium carrier concentrations along the particle trajectory in the crystal.

  1. Radiation-electromagnetic effect in germanium crystals irradiated with high-energy. cap alpha. particles

    Energy Technology Data Exchange (ETDEWEB)

    Kikoin, I.K.; Babichenko, V.S.; Kikoin, L.I.; Lazarev, S.D.; Rzhanov, A.E.; Filippov, V.I.

    1984-05-01

    An experimental investigation was made of the radiation-electromagnetic effect in germanium crystals irradiated in a cyclotron with ..cap alpha.. particles of energies up to 40 MeV. The high excitation rate, the bulk nature of generation of nonequilibrium carriers and defects, and their spatial distributions gave rise to several special features in the dependence of the emf due to the radiation-electromagnetic effect on the particle flux, fluence, and parameters of samples. Theoretical calculations carried out allowing for the specific nature of the interaction of ..cap alpha.. particles with crystals agreed well with the experimental results. The radiation-electromagnetic effect could be used to obtain information on the nature of the spatial distribution of the density of nonequilibrium carriers along the trajectory of a particle in a crystal.

  2. Effect of temperature on interatomic distances in pyroelectric. cap alpha. -LiIO/sub 3/

    Energy Technology Data Exchange (ETDEWEB)

    Coquet, E.; Crettez, J.M. (Laboratoire d' Optique du Reseau Cristallin, Faculte des Sciences, Dijon, France); Pannetier, J.; Bouillot, J. (Institut Max von Laue - Paul Langevin, 38 - Grenoble (France)); Damien, J.C. (Lille-1 Univ., 59 - Villeneuve-d' Ascq (France))

    1983-08-01

    The crystal structure of ..cap alpha..-LiIO/sub 3/ (space group P6/sub 3/) has been refined from neutron and X-ray diffraction data at different temperatures between room temperature and 525 K. The Li atom is well located even at temperatures close to the ..cap alpha.. ..-->.. ..gamma.. phase transition and its thermal parameters do not exhibit any anomalous behaviour. The thermal expansion is analysed in terms of IO/sub 3/-group rotations and expansion of LiO/sub 6/ octahedra; the role of the iodine lone pair in the packing of iodate structures is discussed. The spontaneous polarization is calculated on the basis of a simple point-charge model and the calculated pyroelectric coefficient P/sub 3/ is found to be in fair agreement with the experimental value.

  3. Factorization of the fragmentation cross sections in relativistic pA and. cap alpha. A interactions

    Energy Technology Data Exchange (ETDEWEB)

    Abashidze, L.I.; Avdeichikov, V.V.; Beznogikh, G.G.; Bogatin, V.I.; Budilov, V.A.; Gorshkov, N.L.; Zlomanchuk, Y.; Zhidkov, N.K.; Lozhkin, O.V.; Mruvchinski, S.

    1985-08-01

    We have experimentally demonstrated the factorization of the cross sections for production of the isotopes /sup 3//sup ,//sup 4/He with kinetic energy T> or approx. =100 MeV emitted at an angle 90/sup 0/ in the lab from the nuclei C, Cu, and Au in bombardment by ..cap alpha.. particles with energy 3.33 GeV/nucleon and by protons with energy 6.6 GeV.

  4. Accumulation of glycation products in. cap alpha. -H pig lens crystallin and its bearing to diabetic cataract genesis

    Energy Technology Data Exchange (ETDEWEB)

    Vidal, P.; Cabezas-Cerrato, J.

    1988-01-01

    The incorporation of /sup 11/C-glucose in native pig crystalline by in vitro incubation was found, after subsequent dialysis, to affect all 5 classes of crystallin separated by Sepharose CL-6B column chromatography. Though the radioactivity of the ..cap alpha..-H fraction was three times greater than that of any of the others, autoradiographs of SDS-PAGE gels showed /sup 11/C-glucose adducts to be present in all soluble protein subunits, without there being any evidence of preferential glycation of the ..cap alpha..-H subunits. The concentration of stable glycation products in the ..cap alpha..-H chromatographic fraction of soluble crystallins is suggested to be due the addition of glycated material to this fraction as result of glycation-induced hyperaggregation, and not because the ..cap alpha..-H subunits were especially susceptible to glycation.

  5. Determination of the M-matrix in d-. cap alpha. elastic scattering from a complete set of experiments

    Energy Technology Data Exchange (ETDEWEB)

    Elsener, K.; Grueebler, W.; Sperisen, F.; Ghazi-Wakili, K.; Koenig, V.; Schmelzbach, P.A.; Vuaridel, B.; Bittcher, M.; Singy, D.; Ulbricht, J.

    1988-05-02

    Six polarization transfer coefficients of the d-..cap alpha.. elastic scattering have been measured at an incident deuteron energy of 11.9 MeV and a scattering angle theta/sub lab/ = 37.3/sup 0/. Together with earlier data on cross section and analyzing powers, a complete set of measurements allows to deduce the d-..cap alpha.. M-matrix directly from experiment.

  6. Control of. cap alpha. -amylase mRNA accumulation by gibberellic acid and calcium in barley aleurone layers

    Energy Technology Data Exchange (ETDEWEB)

    Deikman, J.; Jones, R.L.

    1985-01-01

    Pulse-labeling of barley (Hordeum vulgare L. cv Himalaya) aleurone layers incubated for 13 hours in 2.5 micromolar gibberellic acid (GA/sub 3/) with or without 5 millimolar CaCl/sub 2/ shows that ..cap alpha..-amylase isozymes 3 and 4 are not synthesized in vivo in the absence of Ca/sup 2 +/. No difference was observed in ..cap alpha..-amylase mRNA levels between layers incubated for 12 hours in 2.5 micromolar GA/sub 3/ with 5 millimolar CaCl/sub 2/ and layers incubated in GA/sub 3/ alone. RNA isolated from layers incubated for 12 hours in GA/sub 3/ with and without CA/sup 2 +/. A cDNA clone for ..cap alpha..-amylase was isolated and used to measure ..cap alpha..-amylase mRNA levels in aleurone layers incubated in the presence and absence of Ca/sup 2 +/ was translated in vitro and was found to produce the same complement of translation products regardless of the presence of Ca/sup 2 +/ in the incubation medium. Immunoprecipitation of translation products showed that the RNA for ..cap alpha..-amylase synthesized in Ca/sup 2 +/-deprived aleurone layers was translatable. Ca/sup 2 +/ is required for the synthesis of ..cap alpha..-amylase isozymes 3 and 4 at a step after mRNA accumulation and processing.

  7. Capillary electrophoretic study of thiolated alpha-cyclodextrin-capped gold nanoparticles with tetraalkylammonium ions.

    Science.gov (United States)

    Paau, Man Chin; Lo, Chung Keung; Yang, Xiupei; Choi, Martin M F

    2009-11-27

    Capillary zone electrophoresis (CZE) has been employed to characterize nanometer-sized thiolated alpha-cyclodextrin-capped gold nanoparticles (alpha-CD-S-AuNPs). The addition of tetrabutylammonium (Bu(4)N(+)) ions to the run buffer greatly narrows the migration peak of alpha-CD-S-AuNP. The optimal run buffer was determined to be 10mM Bu(4)N(+) in 30 mM phosphate buffer at pH 12 and an applied voltage of 15 kV. The effect of various tetraalkylammonium ions on the peak width and electrophoretic mobility (mu(e)) of alpha-CD-S-AuNP was studied in detail. Bu(4)N(+) ions assist in inter-linking the alpha-CD-S-AuNPs and narrowing the migration peak in CZE. This observation can be explained by the fact that each Bu(4)N(+) ion can simultaneously interact with several hydrophobic cavities of the surface-attached alpha-CDs on AuNPs. The TEM images show that alpha-CD-S-AuNPs with Bu(4)N(+) are linked together but in the absence of Bu(4)N(+), they are more dispersed. The migration mechanism in CZE is based on the formation of inclusion complexes between Bu(4)N(+) and alpha-CD-S-AuNPs which induces changes in the charge-to-size ratio of alpha-CD-S-AuNPs and mu(e). An inverse linear relationship (r(2)>0.998) exists between the mu(e) and size of alpha-CD-S-AuNPs in the core range 1.4-4.1 nm. The CZE analyses are rapid with migration time less than 4 min. A few nanoliters of each of the alpha-CD-S-AuNP samples were injected hydrodynamically at 0.5 psi for 5s. Our work confirms that CZE is an efficient tool for characterizing the sizes of alpha-CD-S-AuNPs using Bu(4)N(+) ions. PMID:19853853

  8. Involvement of prostaglandins F/sub 2. cap alpha. / and E/sub 1/ with rabbit endometrium

    Energy Technology Data Exchange (ETDEWEB)

    Orlicky, D.J.

    1985-01-01

    Several growth factors and hormones are thought to play a role in the growth control of endometrial cells. The authors have shown that prostaglandin F/sub 2..-->../ (PGF/sub 2..cap alpha../) is a growth factor for primary cultures of rabbit endometrium cultured in chemically-defined serum-free medium and that prostaglandin E/sub 1/ (PGE/sub 1/) antagonizes the PGF/sub 2..-->../ induction of growth. Both (/sup 3/H)PGF/sub 2..cap alpha../ and (/sup 3/H)PGE/sub 1/ bind in a time and temperature dependent, dissociable, saturable and specific manner. The binding of (/sup 3/H)PGF/sub 2..cap alpha../ and (/sup 3/H)PGE/sub 1/ can be both down and up regulated and is enzyme sensitive. PGE /sub 1/ stimulates intracellular cAMP synthesis and accumulation in a time and concentration dependent manner. PGF/sub 2..cap alpha../ probably exerts its effects through an amiloride-sensitive intermediate. Both PGF/sub 2..cap alpha../ and PGE/sub 1/ are constitutively synthesized by these primary cultures, and they have shown this synthesis to be both drug and hormone sensitive. They hypothesize that it is the ratio, rather than the absolute quantities, of PGF/sub 2..cap alpha../ and PGE/sub 1/ which is of more importance in the regulation of endometrial cell growth. Furthermore, they believe this regulation of endometrial growth plays a role in control of proliferation during the decidual response and that a derangement in the ratio of these prostaglandins may lead to either infertility or hyperplasia. The ability of these cultures to synthesize prostaglandins in a hormonally regulatable manner may be of importance in the study of dysmenorrhea and uterine cramping as caused by the myometrial contracting prostaglandin, PGF/sub 2..cap alpha../.

  9. Bronquite plástica em criança com talassemia alfa Plastic bronchitis in a child with thalassemia alpha

    Directory of Open Access Journals (Sweden)

    Tiago N. Veras

    2005-12-01

    casts and mucous plugging of the tracheobronchial tree. Given that this illness is part of the differential diagnosis of acute respiratory failure, early treatment is important for improved prognosis. The aim of this report is to describe a case of plastic bronchitis in a child with alpha-thalassemia that was treated successfully with endoscopy. DESCRIPTION: A three year old, black, male child, previously healthy, presented with acute respiratory failure and a chest x-ray showing pulmonary atelectasis. There was no evidence of respiratory symptoms or previous allergy state. The diagnosis of plastic bronchitis was made using flexible and rigid bronchoscopy, and confirmed by histopathologic findings. The child progressed well, treatment was based on supportive care and antibiotics were not used. Ten days after discharge, radiographic appearance was normal. Alpha thalassemia was diagnosed through hemoglobin electrophoresis. COMMENTS: Plastic bronchitis is clinically important because has similar presentation to other prevalent diseases, such as foreign body aspiration and asthma. When plastic bronchitis is suspected, endoscopy is indicated in order to confirm diagnosis and define treatment. Plastic bronchitis has been previously described in patients with cystic fibrosis, cardiac surgery and sickle cell disease. In this case, an association with alpha-thalassemia was observed.

  10. Secondary. cap alpha. -deuterium kinetic isotope effects in solvolyses of ferrocenylmethyl acetate and benzoate in ethanol

    Energy Technology Data Exchange (ETDEWEB)

    Sutic, D. (Univ. of Zagreb, Yugoslavia); Asperger, S.; Borcic, S.

    1982-12-17

    Secondary ..cap alpha..-deuterium kinetic isotope effects (KIE) in solvolyses of ferrocenyldideuteriomethyl acetate and benzoate were determined in 96% (v/v) ethanol, at 25/sup 0/C, as k/sub H//k/sub D/ = 1.24 and 1.26, respectively. The KIEs were also determined in the presence of 0.1 mol dm/sup -3/ lithium perchlorate: the k/sub H//k/ sub D/ values were 1.23 and 1.22 for acetate and benzoate complexes, respectively. The maximum KIE for the C-O bond cleavage of a primary substrate is as large as, or larger than, that of secondary derivatives, which is estimated to be 1.23 per deuterium. The measured KIE of about 12% per D therefore represents a strongly reduced effect relative to its maximum. The solvolyses exhibit ''a special salt effect''. This effect indicates the presence of solvent-separated ion pairs and the return to tight pairs. As the maximum KIE is expected in solvolyses involving transformation of one type of ion pair into another, the strongly reduced ..cap alpha..-D KIE supports the structure involving direct participation of electrons that in the ground state are localized at the iron atom. The alkyl-oxygen cleavage is accompanied by 10-15% acyl-oxygen cleavage.

  11. No effect of 5-fluorouracil on the properties of purified. cap alpha. -amylase from barley half-seeds

    Energy Technology Data Exchange (ETDEWEB)

    Rodaway, S.J.; Kende, H.

    1978-01-01

    Amylase has been purified from de-embryonated seeds of barley (Horedeum vulgare L. cv. Betzes) which have been incubated on 10/sup 6/M gibberellic acid (GA/sub 3/) following 3 days of imbibition in buffer. Incubation of the half-seeds in up to 10/sup -2/ M 5-fluorouracil (5-FU) during the entire incubation period, including imbibition, had no effect on any of the following characteristics of purified ..cap alpha..-amylase: thermal stability in the absence of calcium, molecular weight of the enzyme, isozyme composition, specific activity, or the amount of ..cap alpha..-amylase synthesized by the aleurone tissue. The synthesis of rRNA and tRNA was strongly inhibited by 5-FU, indicating that the analog had entered the aleurone cells. These results are not in agreement with those of Carlson (Nature New Biology 237: 39-41 (1972)) who found that treatment of barley aleurone with 10/sup -4/ M 5-FU to the addition of GA/sub 3/ resulted in decreased thermal stability of GA/sub 3/-induced ..cap alpha..-amylase and who interpreted this as evidence that the mRNA for ..cap alpha..-amylase was synthesized during the imbibition of the aleurone tissue and independently of gibberellin action. Results of the present experiments indicate that the thermal stability of highly purified ..cap alpha..-amylase is not altered by treatment of barley half-seeds with 5-FU, and that 5-FU cannot be used as a probe to examine the timing of ..cap alpha..-amylase mRNA synthesis.

  12. Types of thalassemia among patients attending a large university clinic in Kuala Lumpur, Malaysia.

    Science.gov (United States)

    George, E; Li, H J; Fei, Y J; Reese, A L; Baysal, E; Cepreganova, B; Wilson, J B; Gu, L H; Nechtman, J F; Stoming, T A

    1992-01-01

    We have identified the beta-thalassemia mutations in 59 patients with thalassemia major and 47 patients with Hb E-beta-thalassemia, and the deletional and nondeletional alpha-thalassemia determinants in 23 out of 24 patients with Hb H disease. All persons were attending the Haematology Clinic at the National University of Malaysia in Kuala Lumpur (Malaysia). Most patients (76) were of Malay descent, while 52 patients were Chinese, and two came from elsewhere. The most frequently occurring beta-thalassemia alleles among the Malay patients were IVS-I-5 (G----C) and G----A at codon 26 (Hb E), while a few others were present at lower frequencies. The Chinese patients carried the mutation characteristic for Chinese [mainly codons 41/42 (-TTCT) and IVS-II-654 (C----T)]; Malay mutations were not observed among Chinese and Chinese mutations were virtually absent in the Malay patients. The large group of patients with Hb E-beta-thalassemia and different beta-thalassemia alleles offered the opportunity of comparing hematological data; information obtained for patients with Hb E-beta-thalassemia living in other countries was included in this comparison. Twenty-three patients with Hb H disease carried the Southeast Asian (SEA) alpha-thalassemia-1 deletion; 13 had the alpha CS alpha (Constant Spring) nondeletional alpha-thalassemia-2 determinant, while the deletional alpha-thalassemia-2 (-3.7 or -4.2 kb) was present in 10 subjects. The --/alpha CS alpha condition appeared to be the most severe with higher Hb H values. Both deletional and nondeletional types of alpha-thalassemia-2 were seen among Malay and Chinese patients.

  13. Toxin a from Clostridium difficile binds to rabbit erythrocyte glycolipids with therminal Gal. cap alpha. 1-3Gal. beta. 1-4GlcNaC sequences

    Energy Technology Data Exchange (ETDEWEB)

    Clark, G.F.; Krivan, H.; Wilkins, T.; Smith, D.F.

    1987-05-01

    Toxin A is one of two clostridial toxins implicated as the causative agent of pseudomembranous colitis in patients undergoing postoperative antibiotic therapy. Evidence that the carbohydrate binding determinant for this toxin is a glycoconjugate(s) with non-reducing Gal..cap alpha..1-3Gal..beta..1-4GlcNAc has recently been reported. Specific agglutination of rabbit erythrocytes by Toxin A is inhibited by bovine thyroglobulin and prevented by pretreatment of cells with ..cap alpha..-galactosidase. Total lipid extracts from rabbit erythrocytes were subjected to thin layer chromatography and the chromatogram overlaid with purified /sup 125/I-labeled Toxin A. Two major and several minor toxin-binding glycolipids were detected following autoradiography. The major toxin-binding glycolipids were identified as pentasaccharide- and decasaccharide-ceramides expressing terminal Gal..cap alpha..1-3Gal..beta..1-4GlcNAc sequences. Treatment of the toxin-binding glycolipids with ..cap alpha..-galactosidase abolished binding. Forsmann glycolipid, globoside, Gal..cap alpha..1-4 Gal..beta..1-4Glc-cer, and Gal..cap alpha..1-3Gal..beta..1-4Glc-cer did not bind the toxin. These observations are consistent with the proposed carbohydrate specificity of the toxin for the non-reducing terminal sequence, Gal..cap alpha..1-3Gal..beta..1-4GlcNAc.

  14. H/sub. cap alpha. / monitors for the Advanced Limiter Test-II (ALT-II) on TEXTOR

    Energy Technology Data Exchange (ETDEWEB)

    Uckan, T.

    1988-05-01

    The H/sub ..cap alpha../ monitor system installed on TEXTOR in conjunction with the Advanced Limiter Test-II (ALT-II) toroidal belt pump limiter is introduced. The monitors are used to study edge particle fluxes and recycling, correlations to confinement properties of core and edge plasma with ALT-II, and also high-power auxiliary heating (/approximately/5 MW) during long-pulse (/approximately/4-s) operation of TEXTOR. A model of the edge particle flux based on the H/sub ..cap alpha../ measurements is presented. The ALT-II experiments are to be carried out in various phases. Here we discuss the results obtained from the monitor system during the initial phase of operations following the installation of the ALT-II limiter, with ohmic heating only. 15 refs., 21 figs.

  15. Determination of arsenic, antimony, and bismuth in silicon using 200 keV. cap alpha. -particle backscattering

    Energy Technology Data Exchange (ETDEWEB)

    Hnatowicz, V.; Kvitek, J. (Ceskoslovenska Akademie Ved, Rez. Ustav Jaderne Fyziky); Krejci, P.; Rybka, V. (Tesla, Prague (Czechoslovakia)); Pelikan, L. (Technical University of Prague (Czechoslovakia). Dept. of Microelectronics)

    1982-11-16

    Concentration profiles of As, Sb, and Bi implanted into Si are studied using backscattering of the 200 keV ..cap alpha..-particles. A conventional ion implanter serves as a source of analyzing beam and the scattered particles are detected using a silicon surface barrier detector. Measured projected ranges R/sub P/ of implanted atoms are found to be in satisfactory agreement with theoretical predictions.

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

    Directory of Open Access Journals (Sweden)

    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

  17. Continuous three-dimensional radiation dosimetry in tissue-equivalent phantoms using electron paramagnetic resonance in L-. cap alpha. -alanine

    Energy Technology Data Exchange (ETDEWEB)

    Wielopolski, L.; Maryanski, M.; Ciesielski, B.; Forman, A.; Reinstein, L.E.; Meek, A.G.

    1987-07-01

    A new tissue-equivalent phantom material has been developed which also acts as a dosimeter. The new phantom material has a similar elemental composition to that of soft tissue and has a density 1.1 g/cm/sup 3/. The phantom has an agar-gel base, and contains crystallized L-..cap alpha..-alanine which traps radiation-induced free radicals. Samples from the phantom were analyzed by an electron paramagnetic resonance (EPR) spectrometer and the intensity of the EPR signal was related to the absorbed dose. When calibrated, the phantom material acts as a dosimeter, with applications in radiation therapy.

  18. Amino acid sequence of phospholipase A/sub 2/-. cap alpha. from the venom of Crotalus adamanteus

    Energy Technology Data Exchange (ETDEWEB)

    Heinrikson, R.L.; Krueger, E.T.; Keim, P.S.

    1977-07-25

    The complete amino acid sequence of Crotalus adamanteus venom phospholipase A/sub 2/-..cap alpha.. has been determined by analysis of the five tryptic peptides from the citraconylated, reduced, and S-(/sup 14/C)carboxamidomethylated enzyme. Earlier studies provided the information necessary to align the tryptic fragments so that secondary cleavage procedures to establish overlaps were unnecessary. The subunit in the phospholipase A/sub 2/-..cap alpha.. dimer is a single polypeptide chain containing 122 amino acids and seven disulfide bonds. The histidine residue implicated in the active site of mammalian phospholipases is at position 47 in the C. adamanteus enzyme and is located in a domain of the molecule which is highly homologous in sequence with corresponding regions of phospholipases from a variety of venom and pancreatic sources. Comparative sequence analysis has revealed insights with regard to the function and evolution of phospholipases A/sub 2/. Primary structural relationships observed among the snake venom enzymes parallel the phylogenetic classification of the venomous reptiles from which they were derived. It is proposed that phospholipases A/sub 2/ of this general type be divided into two groups depending upon the presence or absence of distinctive structural features elucidated in this study.

  19. Electron double ionization cross section in sodium obtained from K. cap alpha. sup(h) hypersatellite spectra

    Energy Technology Data Exchange (ETDEWEB)

    Lahtinen, J.; Keski-Rahkonen, O. (Laboratory of Physics, Helsinki University of Technology, Espoo, Finland)

    1983-05-01

    The K..cap alpha..sup(h) hypersatellite spectrum of Na metal has been measured in electron excitation with voltages from 4 to 25 kV. The spectrum shows lines with initial K/sup -2/ (K..cap alpha../sub 2/sup(h)) and K/sup -2/L/sup -1/ holes. The energies of these lines as well as the K/sup 2/ binding energy have been determined and compared with theoretical calculations. The intensity of the line group with K/sup -2/L/sup -1/ initial configuration relative to the K/sup -2/ group has been measured and found to be in agreement with simple shake-off calculation. The electron double ionization cross section (EDC) of the K-shell has been determined from both thick and thin target measurements using the method developed by Saijonmaa and Keski-Rahkonen, and found to yield equivalent results. The EDC has also been calculated theoretically using classical and quantum mechanical binary encounter approximations as devised by Saijonmaa. Theory reproduces fairly well the magnitude and the atomic number dependence of the EDC whereas the shape of the EDC-curve as function of energy deviates clearly from observed values.

  20. Laboratory diagnosis of thalassemia.

    Science.gov (United States)

    Brancaleoni, V; Di Pierro, E; Motta, I; Cappellini, M D

    2016-05-01

    The thalassemias can be defined as α- or β-thalassemias depending on the defective globin chain and on the underlying molecular defects. The recognition of carriers is possible by hematological tests. Both α- and β-thalassemia carriers (heterozygotes) present with microcytic hypochromic parameters with or without mild anemia. Red cell indices and morphology followed by separation and measurement of Hb fractions are the basis for identification of carriers. In addition, iron status should be ascertained by ferritin or zinc protoporphyrin measurements and the iron/total iron-binding capacity/saturation index. Mean corpuscular volume and mean corpuscular hemoglobin are markedly reduced (mean corpuscular volume: 60-70 fl; MCH: 19-23 pg) in β-thalassemia carriers, whereas a slight to relevant reduction is usually observed in α-carriers. HbA2 determination is the most decisive test for β-carrier detection although it can be disturbed by the presence of δ-thalassemia defects. In α-thalassemia, HbA2 can be lower than normal and it assumes significant value when iron deficiency is excluded. Several algorithms have been introduced to discriminate from thalassemia carriers and subjects with iron-deficient anemia; because the only discriminating parameter is the red cell counts, these formulas must be used consciously. Molecular analysis is not required to confirm the diagnosis of β-carrier, but it is necessary to confirm the α-thalassemia carrier status. The molecular diagnosis is essential to predict severe transfusion-dependent and intermediate-to-mild non-transfusion-dependent cases. DNA analysis on chorionic villi is the approach for prenatal diagnosis and the methods are the same used for mutations detection, according to the laboratory facilities and expertise. PMID:27183541

  1. Genetics Home Reference: beta thalassemia

    Science.gov (United States)

    ... for Disease Control and Prevention Centre for Genetics Education (Australia) Cold Spring Harbor Laboratory: Your Genes Your Health Disease InfoSearch: Beta Thalassemia Genomics Education Programme (UK) MalaCards: dominant beta-thalassemia Merck Manual ...

  2. Special features of photoelectromagnetic effect and properties of recombination centers in germanium single crystals irradiated by. cap alpha. particles

    Energy Technology Data Exchange (ETDEWEB)

    Babichenko, V.S.; Kikoin, L.I.; Lazarev, S.D.; Rzhanov, A.E.; Filippov, V.I.

    1984-01-01

    Results of studies on a spatial distribution of defects arising in Ge crystals following ..cap alpha..-particle (40 MeV) irradiation are given. The distribution of defects playing the role of recombination centres is shown to produce the definite effect on diffusion-recombination processes in semiconductors. The carrier capture cross section on recombination centres is determined to be sigma approximately 10/sup -15/ cm/sup -2/. A representation of recombination wall appearing in the vicinity of radiation defect concentration peak is introduced. The experimental data are compared with the developed theoretical representations. It is shown that studies on the photoelectromagnetic effect can give information both on the pattern of radiation defect spatial distribution and recombination parameters of irradiated semiconductors.

  3. Characteristics of the photelectromagnetic effect and properties of recombination centers in germanium single crystals irradiated with. cap alpha. particles

    Energy Technology Data Exchange (ETDEWEB)

    Babichenko, V.S.; Kikoin, L.I.; Lazarev, S.D.; Rzhanov, A.E.; Filippov, V.I.

    1984-01-01

    The spatial distribution of defects created in Ge crystals by irradiation with 40-MeV ..cap alpha.. particles was investigated. The distribution of the defects acting as recombination centers had a decisive influence on the diffusion-recombination processes in this semiconductor. The carrier-capture cross section of the recombination centers (sigmaapprox.10/sup -15/ cm/sup 2/) was determined. A concept of a recombination wall, which appeared in the region of a maximum of the radiation defect concentration, was introduced. The experimental data were compared with theoretical representations. This comparison demonstrated that an investigation of the photoelectromagnetic effect could give information both on the nature of the spatial distribution of radiation defects and on the recombination parameters of an irradiated semiconductor.

  4. Study on genetic screening and diagnosis of alpha thalassemia by real-time fluorescent quantitative PCR%荧光定量PCR技术在α地中海贫血基因筛查与诊断中的研究

    Institute of Scientific and Technical Information of China (English)

    何平亚; 丁忠英; 张鑫丽; 沈国松

    2014-01-01

    目的 了解本地区孕妇α地中海贫血基因携带情况及其血液学特点,为预防地中海贫血出生缺陷提供科学数据.方法 采用荧光定量PCR技术,对1000例孕妇进行α地中海贫血基因筛查与诊断,阳性标本用传统地中海贫血基因诊断方法进行验证;并同时用血红蛋白电泳技术对该1000例孕妇样本进行α地中海贫血筛查.结果 1000例孕妇中α地中海贫血基因携带16例,携带率为1.6%,基因型分别是:缺失型16例,突变型0例;传统α地中海贫血基因诊断方法验证:基因型分别是:缺失型16例,突变型0例,结果全部吻合;血红蛋白毛细管电泳筛查提示有α地中海贫血者5例.结论 本地区α地中海贫血基因携带率为1.6%,采用合理的方法进行育龄孕妇普遍筛查对预防出生缺陷的发生有积极意义.%Objective To investigate the gene carried condition and hematological characteristics of α-thalassemia in pregnant women in HuZhou area,and provide scientific data for prevention of birth defects with thalassemia.Methods Real-time fluorescent quantitative PCR (Real-time PCR) was applied for genetic screening and diagnosis of alpha thalassemia on 1000 cases of pregnant women.Positive samples were verified by traditional gene diagnosis of α-thalassemia,meanwhile using hemoglobin electrophoresis technology to screen alpha thalassemia.Results 16 cases were detected α-thalassemia and the thus α-thalassemia carrier ratio was 1.6%.16 patients were diagnosed as deletion type of α-thalassemia,while mutantion type was not detected.These results were the same as checked by traditional gene diagnosis of α-thalassemia.All samples screening for hemoglobin by capillary zone electrophores,α-thalassaemia screening was positive in 5 cases.Conclusion The α-thalassemia gene carrying rate of pregnant women in Huzhou city was 1.6%.Using reasonable methods to screen pregnant women has positive significance on prevention of the

  5. 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

  6. Beta-thalassemia

    Directory of Open Access Journals (Sweden)

    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

  7. 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. PMID:25266642

  8. Angular and velocity distributions of secondary particles emitted in interaction of 3. 6-GeV/nucleon. cap alpha. particles and lead nuclei

    Energy Technology Data Exchange (ETDEWEB)

    Antonenko, V.G.; Vinogradov, A.A.; Galitskii, V.M.; Grigor' yan, Y.I.; Ippolitov, M.S.; Karadzhev, K.V.; Kuz' min, E.A.; Man' ko, V.I.; Ogloblin, A.A.; Paramonov, V.V.; Tsvetkov, A.A.

    1980-04-01

    The technique is described and results presented of measurements of the velocity and angular distributions of pions, protons, and deuterons, and tritons emitted in bombardment of lead nuclei by ..cap alpha.. particles with energy 3.6 GeV/nucleon.

  9. Effect of trihydroxyoctadecadienoic acids on blood levels of prostaglandins E/sub 2/ and F/sub 2. cap alpha. / and of 5-hydroxyeicosatetraenoic acid in rats with alloxan diabetes

    Energy Technology Data Exchange (ETDEWEB)

    Vartanyan, G.S.; Panosyan, A.G.; Karagezyan, K.G.; Gevorkyan, G.A.

    1986-09-01

    The effect of the trihydroxyoctadecadienoic acids (THODA) fraction on blood levels of some eicosanoids and, in particular, of prostaglandins E/sub 2/ and F/sub 2..cap alpha../(PGE/sub 2/ and PGF/sub 2..cap alpha../), and 5-hydroxyeicosatetraenoic acid (5-HETE) in rats with alloxan diabetes was studied. Concentrations of PGE/sub 2/, PGF/sub 2..cap alpha../, and 5-HETE in peripheral blood plasma were determined by radioimmunoassay. To assess the loss of substances during extraction and chromatography, /sup 3/H/sub 8/-PGE/sub 2/, /sup 3/H/sub 8/-PGF/sub 2..cap alpha.., and /sup 3/H/sub 8/-5-HETE were used. Plasma PGE/sub 2/, PGF/sub 2..cap alpha../, and 5-HETE levels in albino rats with alloxan diabetes and after injection of THODA are shown.

  10. Radioimmunological determination of 5. cap alpha. -pregnane-3,20-dione in the peripheral venous blood of pregnant women showing pathological estriol values and/or HPL values or gestosis, on the basis of the gestational age. Radioimmunologische Bestimmung des 5. cap alpha. -Pregnan-3,20-dion im peripheren Venenblut schwangerer Frauen einer Gruppe mit pathologischen Oestriol- bzw. HPL-Werten und einer Gestosegruppe in Abhaengigkeit vom Gestationsalter

    Energy Technology Data Exchange (ETDEWEB)

    Klemm-Wolfgramm, E.

    1984-01-01

    A modified method of extraction and radioimmunological determination (iodine-125) is described, designed to monitor the concentrations of 5..cap alpha..-pregnandione (5..cap alpha..-DHP) in patients showing a pathological course of pregnancy and to examine the role of 5..cap alpha..-DHP blood levels in the development of gestosis. In this study, a control group was compared with two patient groups showing either (a) gestosis or (b) reduced levels of estriol and/or HPL. (1) In gestosis, the levels of 5..cap alpha..-DHP showed significant reductions that were proportionate to the degree of the disease, whereas decreases in these hormone levels were only observed to a minor extent in connection with pathological values of estriol and/or HPL. (2) The age of the patient had no influence on the hormone concentrations. (3) The increases in 5..cap alpha..-DHP seen in multiparae were only slight and did not attain any statistical significance. (4) No links were established between the concentrations of HPL and 5..cap alpha..-DHP in the maternal plasma and the development of the fetus. (5) Significantly reduced values of 5..cap alpha..-DHP were determined in mothers showing disorders of fetoplacental function (birth weights between 2500 and 3500 g) or gestosis (birth weights above 3500 g). (6) There were no relationships between the maternal serum levels of estriol, HPL and 5..cap alpha..-DHP and the sex of the fetus. (TRV).

  11. Drosophila casein kinase I alpha regulates homolog pairing and genome organization by modulating condensin II subunit Cap-H2 levels.

    Directory of Open Access Journals (Sweden)

    Huy Q Nguyen

    Full Text Available The spatial organization of chromosomes within interphase nuclei is important for gene expression and epigenetic inheritance. Although the extent of physical interaction between chromosomes and their degree of compaction varies during development and between different cell-types, it is unclear how regulation of chromosome interactions and compaction relate to spatial organization of genomes. Drosophila is an excellent model system for studying chromosomal interactions including homolog pairing. Recent work has shown that condensin II governs both interphase chromosome compaction and homolog pairing and condensin II activity is controlled by the turnover of its regulatory subunit Cap-H2. Specifically, Cap-H2 is a target of the SCFSlimb E3 ubiquitin-ligase which down-regulates Cap-H2 in order to maintain homologous chromosome pairing, chromosome length and proper nuclear organization. Here, we identify Casein Kinase I alpha (CK1α as an additional negative-regulator of Cap-H2. CK1α-depletion stabilizes Cap-H2 protein and results in an accumulation of Cap-H2 on chromosomes. Similar to Slimb mutation, CK1α depletion in cultured cells, larval salivary gland, and nurse cells results in several condensin II-dependent phenotypes including dispersal of centromeres, interphase chromosome compaction, and chromosome unpairing. Moreover, CK1α loss-of-function mutations dominantly suppress condensin II mutant phenotypes in vivo. Thus, CK1α facilitates Cap-H2 destruction and modulates nuclear organization by attenuating chromatin localized Cap-H2 protein.

  12. α-地中海贫血基因型和红细胞参数关系的研究%Study on correlation between erythrocyte indices and genotype in cases with alpha-thalassemia

    Institute of Scientific and Technical Information of China (English)

    张永良; 汪伟山; 周玉球; 肖奇志; 谢建红

    2012-01-01

    Objective To investigate the correlation between the erythrocyte indices and the genotypes of alpha thalassemia.Methods 337 carriers with various genotypes of alpha-thalassaemia ( iron deficiency,alpha-thalassemia double heterozygote and homozygote,α-compounding β-thalassemia and abnormal hemoglobinopathy were excluded) were classified into three groups based on different genotypes of alpha-thalassaemia including silent thalassemia group (ST,83 cases),α-thalassemia trait group (TT,210cases) and intermediate thalassemia group( IT,44 cases),and 154 healthy adults were randomly choosed as normal control The erythrocyte indices involving in RBC,Hb,MCV,MCH,MCHC and RDW-CV were retrospectively analyzed and the difference of which was compared by analysis of variance and SNK test among aboved-mentioned groups.Results There were statistical significance among groups about erythrocyte indices except Hb F.The order of the level of MCV and MCH was NC [( 86.6 ± 5.2) fl,( 29.5 ± 2.1 ) pg] >ST[(80.1 ±3.3) fl,(26.7±1.3) pg] >TT[(68.5 ±3.4) fl,(22.0 ±1.2) pg] >IT[(66.6±7.1)fl,(20.0 ±2.2) pg,F =580.67,761.19,P <0.05].And the size of RDW-CV was IT(22.3 ±3.4)% >TT (14.9±1.2) % >ST(13.8±1.6)% >NC(13.2±1.4)%(F=347.25,P<0.05).In ST group,the value of MCHC of -α3.7/αα subgroup( 335.6 ± 8.0) g/L was higher than that of -α4.2/αα subgroup( 330 ±7.2) g/L and αTα/αα subgroup (328.4 ±9.5) g/L(F=6.07,P <0.05).Meanwhile,in IT group,the value of MCV of αTα/--SEA subgroup( 70.1 ± 7.2 ) fl was higher than that of -α3.7/--SEA subgroup ( 63.4 ±5.9) fl and -α4.2/--SEA subgroup ( 64.1 ± 4.0 ) fl ( F =5.55,P < 0.05 ).However,the value of MCHC of αTα/--SEA subgroup( 289.7 ± 21.2 ) g/L was lower than that of other two subgroups [( 306.3 ± 8.4 ),(306.1 ± 8.7) g/L,F =8.72,P <0.05].Except Hb A2 and Hb F,there was positive correlation between the number of deleted α-globin gene and that of RBC and RDW-CV ( r =0.318 and 0.580,P <0

  13. cap alpha. -L-iduronidase deficiency in mucopolysaccharidosis type I against a radio-labelled sulfated disaccharide substrate derived from dermatan sulfate

    Energy Technology Data Exchange (ETDEWEB)

    Muller, V.J.; Hopwood, J.J. (Department of Chemical Pathology, The Adelaide Children' s Hospital Inc., North Adelaide, South Australia)

    1984-01-01

    ..cap alpha..-L-Iduronidase activity was assayed by incubation of a radiolabelled disaccharide, O-(..cap alpha..-L-idopyranosyluronic acid)-(1 arrow 3)-2,5 anhydro-D-(1, /sup 3/H)-talitol 4-sulfate (IdoA-anT4S) derived from dermatan sulfate, with homogenates of leucocytes, cultured amniotic cells and skin fibroblasts from normal individuals and patients affected with an ..cap alpha..-L-iduronidase-deficiency disorder (mucopolysaccharidosis type I, MPS I), parents of such patients and patients affected with other mucopolysaccharidoses. The assay clearly distinguished affected homozygotes from normal controls, heterozygotes and other mucopolysaccharidosis types. Preliminary results show that fibroblast homogenates from patients with the MPS I Hurler phenotype were virtually unable to hydrolyse IdoA-anT4S, whereas fibroblast homogenates from a patient with a relatively mild (Scheie) phenotype exhibited a residual activity with Vsub(max) value of 2.5 pmol/min/mg protein and an apparent Ksub(m) of 21 ..mu..mol/l compared to a range of 1020-2105 pmol/min/mg for Vsub(max) and 12-35 ..mu..mol/l for Ksub(m) for fibroblasts from normal controls.

  14. Influence of prostaglandins E/sub 2/ and F/sub 2. cap alpha. / on the zinc transport across rat mid-intestine in vitro

    Energy Technology Data Exchange (ETDEWEB)

    Song, M.K.; Adham, N.F.; Lee, D.B.N.; Carmack, C.R.

    1986-03-05

    Effects of physiological (5.0 ..mu..M) and pharmacological (50 ..mu..M) doses of prostaglandins (PG) E/sub 2/ and F/sub 2..cap alpha../ on the zinc transport rate across rat jejunum mounted on a Ussing Chamber were determined. Zinc transport rate from mucosal to serosal direction was 4.82 +/- 0.81 n moles/hr/cm/sup 2/ whereas the opposite direction was 18.71 +/- 0.96 n moles/hr/cm/sup 2/. When 5.0 ..mu..M or 50 ..mu..M PGE/sub 2/ or PGF/sub 2..cap alpha../ were added into Ringers-Krebs bicarbonate solution containing 3 mM L-histidine and 0.5 mM /sup 65/Zn Cl/sub 2/ to the mucosal side of mucosa, no significant difference in /sup 65/Zn transport rate was observed compared to controls. However, 5.0 ..mu..M PGF/sub 2..cap alpha../ and 50 ..mu..M PGE/sub 2/ significantly inhibited zinc transport from mucosal to serosal direction. When PGs were added to the opposite side of mucosa, only 5.0 ..mu..M PGs significantly inhibited zinc transport from serosal to mucosal direction. Results suggest that PGs act on the inhibition of zinc transport across the basolateral membrane of columnar absorbing cells and that 50 ..mu..M PGE/sub 2/ was the most powerful inhibitor.

  15. Molecular Epidemiological Characterization and Health Burden of Thalassemias in the Chaoshan Region, People's Republic of China.

    Science.gov (United States)

    Zheng, Xiangbin; Lin, Min; Yang, Hui; Pan, Mei-Chen; Cai, Ying-Mu; Wu, Jiao-Ren; Lin, Fen; Zhan, Xiao-Fen; Luo, Zhao-Yun; Yang, Hui-Tian; Yang, Li-Ye

    2016-01-01

    Thalassemia is one of the most prevalent inherited disease in southern China. However, there have been only a few epidemiological studies of thalassemia in the Chaoshan region of Guangdong Province, People's Republic of China (PRC). A total of 6231 unrelated subjects in two main geographical cities of the Chaoshan region was analyzed for thalassemia. Seven hundred and thirty-six cases of suspected thalassemia carriers with microcytosis [mean corpuscular volume (MCV) T and HBB: c.126_129delCTTT, accounting for 69.81% of the β-thal defects in the studied individuals. In addition, a rare mutation, Cap +1 (A>C) (HBB: c.-50A>C) was described for the first time in the Chaoshan region. Our results gave a heterozygote frequency of 5.31% for common α- and β-thal in the Chaoshan region, and also indicated a higher prevalence of thalassemia with a heterozygote frequency of 6.29% in Chaozhou, followed by Shantou (3.37%). This study provided a detailed prevalence and molecular characterization of thalassemia in the Chaoshan region, and will be valuable for developing a strategy for prevention of thalassemia and reducing excessive health care costs in this area. PMID:26865073

  16. 胎儿脐带血检测在α-珠蛋白生成障碍贫血产前诊断中的价值%Analysis of fetal cord blood in prenatal diagnosis of alpha thalassemia

    Institute of Scientific and Technical Information of China (English)

    李东明; 韦媛; 玉晋武; 何升; 张强; 阙婷; 唐燕青

    2013-01-01

    Objective To evaluate the clinical application of cord blood hemocytometric indices in prenatal diagnosis for alpha thalassemia. Methods Hematology and alpha-globin gene analysis were carried out among 2099 cases of third trimester umbilical cord blood. Optima cutoff values of MCH, HBG, HCT,MCV and RBC were analyzed by ROC curve in screening of alpha-thalassae-mia major. Results The area under ROC curve of MCH, HBG, HCT, MCV and RBC in order was 1,0. 997,0. 895,0. 853 and 0.686,and the optimal cutoff values were 26. 9 pg,100. 5 g/L,34. 5%,111. 8 fL and 2. 83×1012/L respectively. The sensitivity of them were 100% ,100% ,71% ,85. 5% and 75. 4%,and the specificity of each were 100% ,96. 8% ,90% ,80. 6% and 53.2% respectively. Conclusion The optimal cutoff values of MCH and HBG might have value of diagnostic application for screening alpha-thalassaemia major,and MCH could be the best which has no misdiagnosis or missed diagnosis.%目的 探讨胎儿脐带血血液学指标在α-珠蛋白生成障碍贫血产前诊断中的价值.方法 对2 099例孕晚期脐血进行血液学和α-珠蛋白基因分析,用ROC曲线分析MCH、HBG、HCT、MCV和RBC的最佳诊断阈值(cut off值),评价其在重型α-珠蛋白生成障碍贫血诊断中的价值.结果 MCH、HBG、HCT、MCV和RBC的ROC曲线下面积依次为1、0.997、0.895、0.853和0.686,最佳cut off值分别为26.9 pg、100.5 g/L、34.5%、111.8 fL和2.83×1012/L,灵敏度分别为100%、100%、71%、85.5%、75.4%;特异性分别为100%、96.8%、90%、80.6%、53.2%.结论 以ROC曲线分析得到的MCH、HBG最佳cut off值对重型α-珠蛋白生成障碍贫血具有较好的诊断价值,MCH价值最大,无误诊及漏诊.

  17. 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.

  18. 1. cap alpha. ,25-Dihydroxyvitamin D/sub 3/ inhibits. gamma. -interferon synthesis by normal human peripheral blood lymphocytes

    Energy Technology Data Exchange (ETDEWEB)

    Reichel, H.; Koeffler, H.P.; Tobler, A.; Norman, A.W.

    1987-05-01

    1..cap alpha..,25-Dihydroxyvitamin D/sub 3/ (1,25-(OH)/sub 2/D/sub 3/), the biologically active metabolite of vitamin D/sub 3/, inhibited synthesis of ..gamma..-interferon (IFN-..gamma..) by phytohemagglutinin-activated peripheral blood lymphocytes (PBLs). A significant reduction of IFN-..gamma.. protein levels in PBL culture medium was achieved with a physiologic 1,25-(OH)/sub 2/D/sub 3/ concentration, 1,25-(OH)/sub 2/D/sub 3/ also inhibited accumulation of IFN-..gamma.. mRNA in activated PBLs in a dose-dependent fashion. The ability of 1,25-(OH)/sub 2/D/sub 3/ to modulate IFN-..gamma.. protein synthesis was unaltered in the presence of high concentrations of recombinant human interleukin 2. The suppression of IFN-..gamma.. synthesis by PBLs was specific for 1,25-(OH)/sub 2/D/sub 3/; the potencies of other vitamin D/sub 3/ metabolites were correlated with their affinities for the cellular 1,25-(OH)/sub 2/D/sub 3/ receptor. The time course of 1,25-(OH)/sub 2/D/sub 3/ receptor expression in phytohemagglutinin-activated PBLs was correlated with the time course of 1,25-(OH)/sub 2/D/sub 3/-mediated inhibition of IFN-..gamma.. synthesis. Finally, the authors examined the effects of 1,25-(OH)/sub 2/D/sub 3/ on the constitutive IFN-..gamma.. production by two human T-lymphocyte lines transformed by human T-lymphotropic virus type I. The cell lines were established from a normal donor (cell line S-LB1) and from a patient with vitamin D-dependent rickets type 2 (cell line Ab-VDR). IFN-..gamma.. synthesis by S-LB1 cells was inhibited in a dose-dependent fashion by 1,25-(OH)/sub 2/D/sub 3/, whereas IFN-..gamma.. synthesis by Ab-VDR cells was not altered by 1,25-(OH)/sub 2/D/sub 3/. The data presented in this study provide evidence for a role of 1,25-(OH)/sub 2/D/sub 3/ in immunoregulation.

  19. Biochemical studies of mouse brain tubulin: colchicine binding (DEAE-cellulose filter) assay and subunits (. cap alpha. and. beta. ) biosynthesis and degradation (in newborn brain)

    Energy Technology Data Exchange (ETDEWEB)

    Tse, Cek-Fyne

    1978-01-01

    A DEAE-cellulose filter assay, measuring (/sup 3/H)colchicine bound to colchicine binding protein (CBP) absorbed on filter discs, has been modified to include lM sucrose in the incubation medium for complexing colchicine to CBP in samples before applying the samples to filter discs (single point assay). Due to the much greater stability of colchicine binding capacity in the presence of lM sucrose, multiple time-point assays and least squares linear regression analysis were not necessary for accurate determination of CBP in hybrid mouse brain at different stages of development. The highest concentrations of CBP were observed in the 160,000g supernatant and pellet of newborn brain homogenate. Further studies of the modified filter assay documented that the assay has an overall counting efficiency of 27.3%, that DEAE-cellulose filters bind and retain all tubulin in the assay samples, and that one molecule of colchicine binds approximately one molecule of tubulin dimer. Therefore, millimoles of colchicine bound per milligram total protein can be used to calculate tubulin content. With this technique tubulin content of brain supernatant was found to be 11.9% for newborn, and 7.15% for 11 month old mice. Quantitative densitometry was also used to measure mouse brain supernatant actin content for these two stages. In vivo synthesis and degradation rates of tubulin ..cap alpha.. and ..beta.. subunits of two day mouse brain 100,000g supernatant were studied after intracerebral injection of (/sup 3/H)leucine. Quantitative changes of the ratio of tritium specific activities of tubulin ..cap alpha.. and ..beta.. subunits with time were determined. The pattern of change was biphasic. During the first phase the ratio decreased; during the second phase the ratio increased continuously. An interpretation consistent with all the data in this study is that the ..cap alpha.. subunit is synthesized at a more rapid rate than the ..beta.. subunit. (ERB)

  20. Serum Ferritin in Thalassemia Intermedia

    OpenAIRE

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

    2013-01-01

    Serum ferritin is a useful monitoring tool for iron overload in thalassemia major. 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. This was a cross sectional observational study. Seventy seven TI patients attending the pediatric hematology clinic were included. Fasting blood sample was taken from each patient in iron fre...

  1. Hepcidin in β-thalassemia

    OpenAIRE

    Nemeth, Elizabeta

    2010-01-01

    Iron overload is the principal cause of morbidity and mortality in β-thalassemia with or without transfusion dependence. Iron homeostasis is regulated by the hepatic peptide hormone hepcidin. Hepcidin controls dietary iron absorption, plasma iron concentrations, and tissue iron distribution. Hepcidin deficiency is the main or contributing factor of iron overload in iron-loading anemias such as β-thalassemia. Hepcidin deficiency results from a strong suppressive effect of the high erythropoiet...

  2. 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.

    Directory of Open Access Journals (Sweden)

    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

  3. /sup 45/Ca efflux for myometrial cells: comparison of the effects of prostaglandin F/sub 2/. cap alpha. (PGF/sub 2/), oxytocin (OT) and arachidonate (A)

    Energy Technology Data Exchange (ETDEWEB)

    Katona, G.; Molnar, M.; Toth, M.; Hertelendy, F.

    1986-03-01

    The aim of this study was to measure PGF/sub 2..cap alpha../-induced Ca/sup 2 +/ release from uterine cells and to compare this to the actions of OT and A. Smooth muscle cells isolated from the uterus (shell gland) of laying hens were cultured for 7 days in M199 plus 10% fetal calf serum. The cells were treated with digitonin (20..mu..M) and preloaded with /sup 45/Ca for 40 min. Addition of PGF/sub 2..cap alpha../ caused a biphasic /sup 45/Ca-efflux. There was a small but significant /sup 45/Ca-release within 30 sec (rapid phase) followed by a larger one within 7 min (slow phase). In comparison, both OT and A stimulated /sup 45/Ca efflux during a single, slow phase. The maximal effect of A was observed at < 7 min, whereas that of OT was slower, peaking after 7 min. Mepacrin, an inhibitor of A release, attenuated the action of OT without having any effect on A promoted /sup 45/Ca-efflux. Indomethacin, an inhibitor of PG synthase, failed to suppress the Ca-releasing effect of A suggesting the A itself or a lipoxygenase product may have been responsible for the observed effects. Moreover, these results provide suggestive evidence that A release is an important step in the action of various uterotonic agents converging on the mobilization of intracellular Ca.

  4. Thalassemia intermedia as a result of heterozygosis for ß0-thalassemia and aaaanti-3.7/aa genotype in a Brazilian patient

    Directory of Open Access Journals (Sweden)

    E.M. Kimura

    2003-06-01

    Full Text Available We report a case in which the interaction of heterozygosis for both the ß0-IVS-II-1 (G->A mutation and the aaaanti-3.7 allele was the probable cause for the clinical occurrence of thalassemia intermedia. The propositus, a 6-year-old Caucasian Brazilian boy of Portuguese descent, showed a moderately severe chronic anemia in spite of having the ß-thalassemia trait. Investigation of the alpha-globin gene status revealed heterozygosis for alpha-gene triplication (aaa/aa. The patient's father, also presenting mild microcytic and hypochromic anemia, had the same alpha and ß genotypes as his son, while the mother, not related to the father and hematologically normal, was also a carrier of the aaaanti-3.7 allele. The present case emphasizes the need for considering the possibility of alpha-gene triplication in ß-thalassemia heterozygotes who display an unexpected severe phenotype. The ß-thalassemia mutation found here is being described for the first time in Brazil.

  5. Microcytic hypochromic anemia patients with thalassemia : Genotyping approach

    Directory of Open Access Journals (Sweden)

    Rahim Fakher

    2009-03-01

    Full Text Available Background: Microcytic hypochromic anemia is a common condition in clinical practice, and alpha-thalassemia has to be considered as a differential diagnosis. Aims: This study was conducted to evaluate the frequency of α-gene, β-gene and hemoglobin variant numbers in subjects with microcytic hypochromic anemia. Setting And Designs: Population-based case-control study in the Iranian population. Materials And Methods: A total of 340 subjects from southwest part of Iran were studied in the Research Center of Thalassemia and Hemoglobinopathies (RCTH, Iran. Genotyping for known a- and b-gene mutations was done with gap-PCR and ARMS. In cases of some rare mutations, the genotyping was done with the help of other techniques such as RFLP and ARMS-PCR. Statistical Analysis: Statistical analysis was carried out by SPSS 11.5 and an independent-sample t test. Results: Out of the total 340 individuals, 325 individuals were evaluated to have microcytic hypochromic anemia based on initial hematological parameters such as MCV< 80 fl; MCH < 27 pg; the remaining 15 patients were diagnosed with no definite etiology. The overall frequency of -α3.7 deletion in 325 individuals was 20.3%. The most frequent mutations were IVS II-I, CD 36/37 and IVS I-110 with frequencies of 6.31%, 5.27% and 1.64%, respectively. Only, there was a significant difference between beta-thalassemia trait and beta-thalassemia major with regard to MCV (P < 0.05 and MCH (P < 0.05 indices, and also MCH index between beta-thalassemia trait and Hb variants (P < 0.05. Conclusion: Molecular genotyping provides a rapid and reliable method for identification of common, rare and unknown a- and b-gene mutations, which help to diagnose unexplained microcytosis and thus prevent unnecessary iron supplementation.

  6. Approaches to management of beta-thalassemia intermedia

    Directory of Open Access Journals (Sweden)

    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.

  7. Extractive separation of micro amounts of rhenium from molybdenite by quinoline and a modified method of rhenium determination by. cap alpha. -furyl-dioxime

    Energy Technology Data Exchange (ETDEWEB)

    Dorz, D.; Dobrowolski, J. (Politechnika Gdanska (Poland))

    1979-01-01

    The extractive separation of rhenium(7) by quinoline in alkaline solution as well as a modification of the spectrophotometric method for the determination of micro amounts of rhenium in a molybdenite from copper-molybdenum ores from Mongolia, using ..cap alpha..-furyldioxime has been developed. On the basis of the extractive separation method of perrhenate ion by quinoline from alkaline solution, rhenium has been determined in molybdenite. The molybdenite was decomposed by four different methods. Two of these decomposition methods, the fusion of Na/sub 2/O/sub 2/ with NaOH and the sintering of CaO with KMnO/sub 4/ were found as the best ones.

  8. Hemoglobin profiles of siblings of thalassemia patients

    Directory of Open Access Journals (Sweden)

    Muhammad Riza

    2015-03-01

    Full Text Available Background Thalassemia and hemoglobinopathies are the most common inherited disorders in many areas of the world, including South East Asia. The siblings of thalassemia major is a group of high risk to carry the gene of thalassemia. Determining the carrier is useful for early treatment planning and prevention to the next child. Objective To determine carrier status among siblings of thalassemia patients using a capillary electrophoresis system. Methods A cross-sectional study on the siblings of thalassemia major patients was performed from January 2011 to February 2012 at Dr. Moewardi Hospital. Complete blood counts were performed in the siblings. Subjects with mean corpuscular volume (MCV <80 fl and mean corpuscular hemoglobin (MCH <27 pg were subjected to analize hemoglobin fraction by capillary electrophoresis. Results Of the 26 subjects, there were 12 males and 14 females. The mean age was 9.38 (SD 6.8 years (range 1 to 29 years. From the siblings, 10 were identified as normal, 5 were identified as ß thalassemia carriers and 5 were hemoglobin E (HbE carriers. Six siblings were diagnosed with ß thalassemia/ HbE. Conclusion There are high occurrence of the two common types of thalassemia carriers (ß and HbE in our small group of subjects who had a family history of thalassemia. Most of the siblings of thalassemia had low MCV and MCH. [Paediatr Indones. 2015;55:70-3.].

  9. Low Bone Mass in Thalassemia

    Science.gov (United States)

    4 Low Bone Mass in Thalassemia • In addition to a diet rich in calcium and vitamin D, your doctor may recommend taking calcium ... What can be done to treat low bone mass? Following all of the above prevention measures is ...

  10. 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. PMID:26935201

  11. Thalassemia and Hemoglobin E in Southern Thai Blood Donors

    Directory of Open Access Journals (Sweden)

    Manit Nuinoon

    2014-01-01

    Full Text Available Thalassemia and hemoglobin E (Hb E are common in Thailand. Individuals with thalassemia trait usually have a normal hemoglobin concentration or mild anemia. Therefore, thalassemic individuals who have minimum acceptable Hb level may be accepted as blood donors. This study was aimed at determining the frequency of α-thalassemia 1 trait, β-thalassemia trait, and Hb E-related syndromes in Southern Thai blood donors. One hundred and sixteen voluntary blood donors, Southern Thailand origin, were recruited for thalassemia and Hb E screening by red blood cell indices/dichlorophenolindophenol precipitation test. β-Thalassemia and Hb E were then identified by high performance liquid chromatography and 4 common α-thalassemia deletions were characterized by a single tube-multiplex gap-polymerase chain reaction. Overall frequency of hemoglobinopathies was 12.9%, classified as follows: homozygous α-thalassemia 2 (1.7%, heterozygous α-thalassemia 1 (1.7%, heterozygous β-thalassemia without α-thalassemia (0.9%, heterozygous Hb E without α-thalassemia (5.2%, double heterozygotes for Hb E/α-thalassemia 1 (1.7%, homozygous Hb E without α-thalassemia (0.9%, and homozygous Hb E with heterozygous α-thalassemia 2 (0.9%. The usefulness of thalassemia screening is not only for receiving highly effective red blood cells in the recipients but also for encouraging the control and prevention program of thalassemia in blood donors.

  12. 一个伴α地中海贫血X连锁智力低下综合征家系的基因突变研究%Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome

    Institute of Scientific and Technical Information of China (English)

    林少宾; 孙宏钰; 宋新明; 陈路明; 杜敏联; 陈争

    2013-01-01

    目的 对1个X连锁智力低下伴α地中海贫血综合征(alpha thalassaemia/mental retardation syndrome,X-linked,ATR-X)的家系进行致病基因突变研究.方法 根据患者的临床表型和家系的遗传特点,应用X染色体短串联重复序列位点的连锁分析,定位智力低下的基因位点,初步锁定目的基因后,应用聚合酶链反应技术扩增致病基因外显子及剪切位点,应用DNA序列测定技术分析患者及其父母的致病性突变.地中海贫血基因检测确定患者基因型.结果 连锁分析提示ATRX基因可能是家系智力低下的致病基因.全部3例患者ATRX基因第9外显子均存在c.736C>T (p.R246C)突变.3例患者的母亲及祖母均为该突变携带者.其余8名家系成员均未检测到该基因突变.α地中海贫血检测证实先证者及另1例患者均携带α珠蛋白基因的缺失,基因型分别为-α3.7/αα和--sea/αα.结论 该家系ATRX基因的错义突变c.736C>T位于该基因突变热点区域,p.R246C可能影响ATRX蛋白锌指蛋白结构域的功能,可能是该家系ATR-X综合征的发病原因.%Objective To identify potential mutation in a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome (ATR-X).Methods Based on clinical symptoms and inheritance pattern,linkage analysis of X chromosome short tandem repeats (X-STR) loci was carried out to locate the candidate gene.Subsequently,sequences of exons and exon-intron boundaries of the candidate gene were amplified with polymerase chain reaction (PCR).Potential mutations were detected by direct DNA sequencing.All patients were also analyzed for the trait of thalassemia.Results Linkage analysis indicated the candidate gene to be ATRX.Subsequently,a homozygous missense mutation c.736C>T (p.R246C) was found in exon 9 of ATRX in all of the 3 patients.And a heterozygous mutation c.736C>T (p.R246C) was also identified in the patient's mother and grandmother.Similar mutations were not

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

    Directory of Open Access Journals (Sweden)

    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

  14. AWARENESS ABOUT THALASSEMIA: A SURVEY REPORT

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    Safila Naveed

    2014-02-01

    Full Text Available To determine the awareness among student of Pharm D, MBBS and general population with thalassemia major (TM regarding the disease. Methods: This (cross sectional study was conducted among students of MBBS, Pharm. D in different private and government sector universities in Karachi having close ended questions related to their knowledge about thalassemia from Sep 2013 to October 2013. Different Parents were interviewed using a pre designed questionnaire. Questions regarding duration of illness, screening of blood awareness regarding, mode of transmission of disease, prevention and treatment were asked. Results: We’ve determined the awareness ratio and found out that the awareness rate of thalassemia was not up to the mark as we thought. Among 200 populations only 22% of the people had good knowledge about thalassemia and rest 78% of people were not well aware of the disease as well as its consequences. Conclusion: From this survey we conclude that the awareness of people on thalassemia is negligible.

  15. AWARENESS ABOUT THALASSEMIA: A SURVEY REPORT

    Directory of Open Access Journals (Sweden)

    Safila Naveed

    2014-02-01

    Full Text Available Objective: To determine the awareness among student of Pharm D, MBBS and general population with thalassemia major (TM regarding the disease. Methods: This (cross sectional study was conducted among students of MBBS, Pharm. D in different private and government sector universities in Karachi having close ended questions related to their knowledge about thalassemia from Sep 2013 to October 2013. Different Parents were interviewed using a pre designed questionnaire. Questions regarding duration of illness, screening of blood awareness regarding, mode of transmission of disease, prevention and treatment were asked. Results: We’ve determined the awareness ratio and found out that the awareness rate of thalassemia was not up to the mark as we thought. Among 200 populations only 22% of the people had good knowledge about thalassemia and rest 78% of people were not well aware of the disease as well as its consequences. Conclusion: From this survey we conclude that the awareness of people on thalassemia is negligible.

  16. 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.

  17. Synthesis of biological markers in fossil fuels. 4. C/sub 27/, C/sub 28/, and C/sub 29/ 13. beta. ,17. cap alpha. (H)-diasteranes

    Energy Technology Data Exchange (ETDEWEB)

    Bauer, P.E.; Nelson, D.A.; Watt, D.S.; Reibenspies, J.H.; Anderson, O.P.; Seifert, W.K.; Moldowan, J.M.

    1985-12-27

    The rearrangement of 5-cholestene to (20epsilon)-13(17)-diacholestenes, separation of C-20 epimers, and further reduction provided an unambiguous synthesis of the biomarkers (20R)- and (20S)-13..beta..,17..cap alpha..(H)-diacholestanes. Repetition of this sequence using (24R)-5-campestene or (24R)-5-stigmastene provided the analogous C/sub 28/ and C/sub 29/ diasteranes. 15 references, 1 figure.

  18. Cap +1 mutation; an unsuspected cause of beta thalassaemia transmission in Pakistan

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    Sadia Usman Babar

    2009-12-01

    Full Text Available Objective: Thalassemia is one of the most common genetic disorders worldwide. Cap +1 mutation which causes ‘silent beta thalassemia’ is present around all ethnic groups of Pakistan. This study was designed to detect the frequency of Cap+1 mutation in Pakistani Population.Materials and Methods: Molecular genetic for Cap+1 beta thalassemic mutation was done by extracting DNA from whole blood by using Genomic DNA Purification Kit (Gentra system USA. Amplification Refractory Mutation System (ARMS primers were designed for detection of normal and mutant DNA.Basic hematological parameters were performed by using automated analyzer (Sysmex KX-21. Cellulose acetate hemoglobin electrophoresis was done by using semi-automated technique (INTERLAB Roma Microtech Series Electrophoresis system 4.23. Results: The frequency of Cap+1 mutation was observed 5% (10/200 in targeted thalassemic families (having patients with beta-thalassemia intermedia while its frequency was observed 2% (12/600 in total thalassemic genes in Pakistani population. Conclusion: Cap+1 (A-C is a silent mutation and it has very minimum effect on beta globin synthesis because of which it produces very less clinical severity and certain important laboratory diagnostic tests like basic hematological parameters and Hb A2 levels are also remain in normal range. Therefore individuals with Cap+1 mutation may produce children with beta-thalassemia intermedia if they marry an individual with beta-thalassemia minor. Cap+1 (A-C mutation is an unsuspected cause of beta thalassemia transmission in Pakistani population. This mutation can identify at molecular level. As this molecular defect is difficult to diagnose in Laboratory with routine laboratory tests because of that it has become a serious hindrance for thalassemia prevention program in Pakistan.

  19. 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.

  20. Effect of. cap alpha. -tocopherol, butylated-hydroxytoluene and hydroxy-anisole on the activation and binding of aflatoxin B/sub 1/ to macromolecules

    Energy Technology Data Exchange (ETDEWEB)

    Ch' ih, J.J.; Biedrzycka, D.; Devlin, T.M.

    1987-05-01

    The anti-oxidants, ..cap alpha..-tocopherol(TPA), butylated-hydroxy-toluene(BHT) and hydroxyanisole(BHA) inhibit the carcinogenic and toxic effects of a variety of chemical compounds, their effect on aflatoxin B/sub 1/ (AFB/sub 1/) activation and binding was examined utilizing rat liver microsomes and cells. With a NADPH generating system, oxygen, microsomes, (/sup 3/H)-AFB/sub 1/, 2.2 pmoles/h/mg protein was activated and bound to macromolecules. In hepatocytes, 3.4 and 1.4 pmoles of AFB/sub 1/ per 10/sup 6/ cells were taken up and bound to macromolecules, whereas the nucleic acid fraction contained 0.19 pmoles of bound AFB/sub 1/. Moderate decreases of AFB/sub 1/ activation and binding were observed when TPA was present in both cell-free and hepatocytes systems. Only in hepatocytes, BHT inhibited the AFB/sub 1/ uptake and binding to nucleic acids. BHA, however, inhibited microsomal activation of AFB/sub 1/ by 73%; maximum inhibition was reached at 1 mM. AFB/sub 1/ uptake, and binding to nucleic acids were inhibited by 65% and 79% by BHA. GSH-transferase activity of cells treated with these agents was not altered. The effect of BHA at various concentrations on AFB activation was compared with cytochrome P-450 inhibitors; the ED/sub 50/ of SKF 525A, BHA and metyrapone was 9 uM, 80 uM and 380 uM respectively. The data suggest that TPA, BHA and BHT exert their effect by different mechanisms.

  1. 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

  2. Associations between a+-thalassemia and Plasmodium falciparum malarial infection in northeastern Tanzania

    DEFF Research Database (Denmark)

    Enevold, Anders; Alifrangis, Michael; Sanchez, Juan J;

    2007-01-01

    (>1200 m) to 45%-55% in low-altitude villages (<600 m). The carriage rate of alpha (+)-thalassemia decreased by approximately 12% per 100-m increase in altitude (P<.001) and was approximately 50% lower among those with patent parasitemia than among uninfected individuals (P=.014). The prevalence of the...

  3. Application of full automated capillary electrophoresis system in the analysis of neonatal alpha thalassemia%全自动毛细管电泳仪在新生儿α珠蛋白生成障碍性贫血筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    万志丹; 黄湘; 吴学威; 李冬秀; 郑国兵; 姚英姿; 梁睿

    2012-01-01

    目的 探讨全自动毛细管电泳仪在新生儿α珠蛋白生成障碍性贫血筛查中的应用价值.方法使用全自动毛细管电泳仪对45 863例新生儿脐血标本进行血红蛋白(Hb)电泳分析,检测HbA、HbF、HbA2和异常Hb的含量,对筛查表型阳性的病例召回进行基因分析.结果 45 863例新生儿脐血标本中检测出巴特血红蛋白(Hb Bart′s)阳性者2 964例,筛查阳性率6.46%(2 964/45 863);召回其中1 278例行基因分析,1 173例确诊为α珠蛋白基因缺失,符合率91.8%.确诊病例以标准型为主,占64.4%;基因分型以--SEA/αα最为常见.静止型的Hb Bart′s含量95%置信区间为0.13%~0.97%,标准型Hb Bart′s含量95%置信区间为1.28%~5.92%,HbH病Hb Bart′s含量95%置信区间为8.32%~30.28%,Hb Bart′s水肿胎Hb Bart′s含量高于80%.结论 全自动毛细管电泳分析技术与基因分析有良好的一致性,根据Hb Bart′s含量的多少可初步进行α珠蛋白生成障碍性贫血的临床分型.%Objective To assess capillary electrophoresis system in the analysis of neonatal alpha thalassemia. Methods Using automatic capillary electrophoresis instrument to analyze 45 863 cases of neonatal cord hemoglobin(Hb) electrophoresis to detect HbA,HbF,HbA2 and abnormal Hb content,and the positive phenotypes cases were recalled for genetic analysis. Results Amongall 45 863 cases of neonatal cord specimens,6. 46%(2 964/45 863) were with Hb Bart s. 1 278 positive cases were recalled for gene detection, among which 1 173 patients were alpha globin gene deletion, with coincidence rate 91. 8%. Most confirmed cases werestandard type,about 64. 5 % ,and genotyping of-SEA/aawas the most common. The 95% range of Hb Bart s content in statictype was 0. 13% - 0.97%,in standard type was 1.28% -5. 92% and in HbH disease was 8. 32% -30. 28%. In Hb Bart's fetal e dema,the content of Hb Bart s was more than 80%. Conclusion Automatic capillary electrophoresis might be with great consis tence with

  4. AWARENESS ABOUT THALASSEMIA: A SURVEY REPORT

    OpenAIRE

    Safila Naveed; Huma Dilshad; Fajal Hashmi; Ayesha Khan; Nabila Salahuddin

    2014-01-01

    Objective: To determine the awareness among student of Pharm D, MBBS and general population with thalassemia major (TM) regarding the disease. Methods: This (cross sectional) study was conducted among students of MBBS, Pharm. D in different private and government sector universities in Karachi having close ended questions related to their knowledge about thalassemia from Sep 2013 to October 2013. Different Parents were interviewed using a pre designed questionnaire. Questions regarding durati...

  5. Alloimmunization among transfusion-dependent thalassemia patients

    OpenAIRE

    Sadeghian Mohammad; Keramati Mohammad; Badiei Zahra; Ravarian Mehrangiz; Ayatollahi Hossein; Rafatpanah Houshang; Daluei Mohammad

    2009-01-01

    Background: Thalassemia is a common hemoglobin disorder in Iran and one of the major public health problems. Although blood transfusions are lifesavers for thalassemia patients, they may be associated with some complications especially erythrocyte alloimmunization. The purpose of this study was to investigate the prevalence of red blood cell alloantibodies and to determine types of these antibodies among multiple-transfused thalassemic patients. Materials and Methods: A total of 313 thalas...

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

    Directory of Open Access Journals (Sweden)

    Mrinal Kumar Baruah

    2014-01-01

    Full Text Available Background: 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. Aims: 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. Materials and Methods: This study was performed by high performance liquid chromatography (HPLC using BIORAD variant Hb typing system. Results: 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. Conclusion: A high incidence of hemoglobinopathies and thalassemias and their combinations is unique for this part of the country.

  7. Thalassemia

    Science.gov (United States)

    ... Collaboratives Launch Prematurity research centers What is team science? More than 75 years of solving problems March ... for your patients Medical resources Professional education Awards, scholarships & grants For policy makers Policies & positions State advocacy ...

  8. Prevention of thalassemia: experiences from Samui Island.

    Science.gov (United States)

    Sangkitporn, Somchai; Chongkitivitya, Narumol; Pathompanichratana, Sermsri; Sangkitporn, Siripakorn K; Songkharm, Boonnipa; Watanapocha, Urai; Pathtong, Wantanee

    2004-02-01

    Thalassemia is one of the most important genetic disorders in Thailand. A model for prevention of thalassemia by combining 4 strategies including education, carrier screening, counseling and prenatal diagnosis was developed by a thalassemia task force. A thalassemia work group was formed in order to develop a mechanism to integrate the model for real use on Samui Island where thalassemia is common and a specific disease oriented program is required. 200 health professionals working on Samui Island participated in the thalassemia educational courses. The specific training courses were also provided for obstreticians, medical technologists and counselors. A team of well-trained health professionals was established to manage public education. Information booklets, posters, brochures and mass media including spot radio and newspapers were used as educational materials. For carrier screening, blood samples of pregnant women from all health care organizations on Samui Island were collected and screened for thalassemia carriers by using the osmotic fragility (OF) test/the dichlorophenol indophenol precipitation (DCIP) tests at Samui Hospital. Samples with positive results were sent to the Regional Medical Sciences Center in Surat Thani for thalassemia diagnosis. When a carrier was identified, her spouse was offered testing. For at-risk couples, details of the disorder were included in counseling to help them reach a decision that was right to them, in the context of their unique medical, moral and social situations. Amniotic fluid samples were collected for prenatal diagnosis. All patient information was registered by using computer software. After 1 year of integration by using facilities of the Ministry of Public Health service system, a wide range of problems were identified. They underlined the need for effective health service structure co-operation, adequate education of responsible health professionals, explicit policies and a clear line of responsibility at local

  9. A Randomized Multicentre Phase II Trial Comparing Adjuvant Therapy in Patients with Interferon Alpha-2b and 5-FU Alone or in Combination with Either External Radiation Treatment and Cisplatin (CapRI) or Radiation alone regarding Event-Free Survival – CapRI-2

    International Nuclear Information System (INIS)

    The 5-year survival of patients with resected pancreatic adenocarcinoma is still unsatisfying. The ESPAC-1 and the CONKO 001 trial proofed that adjuvant chemotherapy improves 5-year survival significantly from approximately 14% to 21%. In parallel, investigators from the Virginia Mason Clinic reported a 5-year survival rate of 55% in a phase II trial evaluating a combination of adjuvant chemotherapy, immunotherapy and external beam radiation (CapRI-scheme). Two other groups confirmed in phase II trials these results to a certain extent. However, these groups reported severe gastrointestinal toxicity (up to 93% grade 3 or 4 toxicity). In a randomized controlled phase III trial, called CapRI, 110 patients were enrolled from 2004 to 2007 in Germany and Italy to check for reproducibility. Interestingly, much less gastrointestinal toxicity was observed. However, dose-reduction due to haematological side effects had to be performed in nearly all patients. First clinical results are expected for the end of 2009. CapRI-2 is an open, controlled, prospective, randomized, multicentre phase II trial with three parallel arms. A de-escalation of the CapRI-scheme will be tested in two different modifications. Patients in study arm A will be treated as outpatients with the complete CapRI-scheme consisting of cisplatin, Interferon alpha-2b and external beam radiation and three cycles of 5-fluorouracil continuous infusion. In study arm B the first de-escalation will be realised by omitting cisplatin. Next, patients in study arm C will additionally not receive external beam radiation. A total of 135 patients with pathologically confirmed R0 or R1 resected pancreatic adenocarcinoma are planned to be enrolled. Primary endpoint is the comparison of the treatment groups with respect to six-month event-free-survival. An event is defined as grade 3 or grade 4 toxicity, objective tumour recurrence, or death. The aim of this clinical trial is to evaluate de-escalation of the CapRI-scheme. It

  10. SERUM TOTAL BILIRUBIN, NOT CHOLELITHIASIS, IS INFLUENCED BY UGT1A1 POLYMORPHISM, ALPHA THALASSEMIA AND S GENOTYPE: FIRST REPORT ON COMPARISON BETWEEN ARAB-INDIAN AND AFRICAN S GENES

    Directory of Open Access Journals (Sweden)

    Said Y ALkindi

    2015-10-01

    Full Text Available Background: We explored the potential relationship between steady state serum bilirubin levels and the incidence of cholelithiasis in the context of UGT1A1 gene A(TAnTAA promoter polymorphism in Omani sickle cell anemia (SCA patients, homozygotes for African (Benin and Bantu and Arab-Indian bS haplotypes, but sharing the same microgeographical environment and comparable life style factors.   Methods: 136 SCA patients were retrospectively studied in whom imaging data including abdominal CT scan, MRI or Ultrasonography was routinely available. Available data on the mean steady state hematological/biochemical parameters (n=136,  bs haplotypes(n=136, a globin gene status (n=105 and UGT1A1 genotypes(n=133 were reviewed from the respective medical records.   Results: The mean serum total bilirubin level was significantly higher in the homozygous UGT1A1(AT7 group as compared to  UGT1A1(AT6 group. Strikingly, cholelithiasis was not influenced by age, gender, alpha globin genotype or bS haplotypes in this SCA cohort.   Conclusion: As observed in other population groups, the UGT1A1 (AT7 homozygosity was significantly associated with raised serum total bilirubin level, but the prevalence of gallstones in the Omani SCA patients was not associated with a thalassaemia, UGT1A1 polymorphism, or bs haplotypes.

  11. 基于社区水平的珠海市大人群地中海贫血的遗传筛查和产前诊断%A community-based genetic screening of large-scale population and prenatal diagnosis for alpha and beta thalassemia in Zhuhai city of Guangdong province

    Institute of Scientific and Technical Information of China (English)

    周玉球; 徐湘民; 莫秋华; 卢金汉; 李莉艳; 梁雄; 贾世奇; 肖鸽飞; 周万军; 肖奇志

    2008-01-01

    Objective To describe a community-based model for prevention and control of severe α and β thalassemias in Zhuhai city of Guangdong province.Methods Couples for premarital medical examination or regular heahhcare examination in pregnancy were enrolled in this prospective screening program,which was supported by the two-level network composed of 6 local hospitals for testing thalassemias and follow-up for genetic counseling.A conventional heterozygote screening strategy Was used to determine α and β thalasemia traits in women and their partners according to the standard procedures of hematological phenotype analysis.Then confirmative diagnosis of α and β thalassemia was performed On those couples suspected at-risk for seven thalassemia by using the PCR-based molecular diagnostic assays. The couples at risk for severe thalassemia Were counseled and offered prenatal diagnosis and termination of pregnancy in ease of an affected fetus. Results During the period between January 1998 and December 2005, the screened records included 85522 young females and their partners for premarital screening and 10439 pregnant women for prenatal screening,with 71.38% coverage of total population recorded in this city for premarital screening.Six thousands five hundreds and sixty-three individuals in total were found to be the carriers of thalassemias,with 4312 for α thalassemia (4.5%) and 2251 for β thalassemia (2.3%),respectively.One hundred and forty-eisht couples Were diagnosed to be at-risk for thalassemias,including 103 for a thalassemia and 45 for β thalassemia, respectively.Successful prenatal diagnosis was made for 142(98 for a thalasemia and 44 for β thalassemia) out of 148 (95.9%) pregnancies at-risk for severe thalassemias.Twenty-three cases of hydrops fetalis,4 of Hb H diseases and 14 of β thal assemia were identified.All 41 pregnancies with affected fetuses were voluntarily terminated.Thus, this has led to a marked decrease of scvcrc thalassemia syndrome since

  12. 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.

  13. Cytochrome P450c17 (steroid 17. cap alpha. -hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues

    Energy Technology Data Exchange (ETDEWEB)

    Chung, B.; Picado-Leonard, J.; Haniu, M.; Bienkowski, M.; Hall, P.F.; Shively, J.E.; Miller, W.L.

    1987-01-01

    P450c17 is the single enzyme mediating both 17..cap alpha..-hydroxylase (steroid 17..cap alpha..-monooxygenase, EC 1.14.99.9) and 17,20 lyase activities in the synthesis of steroid hormones. It has been suggested that different P450c17 isozymes mediate these activities in the adrenal gland and testis. The authors sequenced 423 of the 509 amino acids (83%) of the porcine adrenal enzyme; based on this partial sequence, a 128-fold degenerate 17-mer was synthesized and used to screen a porcine adrenal cDNA library. This yielded a 380-base cloned cDNA, which in turn was used to isolate several human adrenal cDNAs. The longest of these, lambda hac 17-2, is 1754 base pairs long and includes the full-length coding region, the complete 3'-untranslated region, and 41 bases of the 5'-untranslated region. This cDNA encodes a protein of 508 amino acids having a predicted molecular weight of 57,379.82. High-stringency screening of a human testicular cDNA library yielded a partial clone containing 1303 identical bases. RNA gel blots and nuclease S1-protection experiments confirm that the adrenal and testicular P450c17 mRNAs are indistinguishable. These data indicate that the testis possesses a P450c17 identical to that in the adrenal. The human amino acid sequence is 66.7% homologous to the corresponding regions of the porcine sequence, and the human cDNA and amino acid sequences are 80.1 and 70.3% homologous, respectively, to bovine adrenal P450c17 cDNA. Both comparisons indicate that a central region comprising amino acid residues 160-268 is hypervariable among these species of P450c17.

  14. 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.

  15. Palmar Dermatoglyphics in Patients of Thalassemia Major

    Directory of Open Access Journals (Sweden)

    Rashida H Andani

    2012-06-01

    Full Text Available Introduction: Dermatoglyphics have proven to be a helpful tool in identifying specific syndromes of genetic origins. Any epidermal ridge alterations in individuals may have a distinctive dermatoglyphic feature. An attempt has been made to find out any significant variation in-patient of Thalassemia major, so it can be highlighted with a view to assess its value as a diagnostic marker. Methodology: Palm prints of 100 diagnosed patients of Thalassemia were studied and study matched with 100 healthy subjects. Results: The preset study shows autosomal recessive inheritance caused by a single mutant gene. The chain is coded by gene on chromosome no-16 &gene on chromosome No-11; unusual dermatoglyphics are reported in-patient with single gene disorders. Thalassemia is also a single gene disorder so it too can be added to this list. Parameters studied were ‘atd’ angle, ‘a-b’ ridge count and main line index. It was observed that the ‘atd’ angle wider in patients in comparison to control group, which indicates distal displacement of axial tri-radius. It was also found that more number of patients fell under the group of high ridge count. The difference was significant statistically for right hand. Low main line index was observed in patients which indicates vertical alignment of ridges. Conclusion: The deviation of the different dermatoglyphic features in patients of Thalassemia major provides a single, inexpensive method of clinical observation and adds another new diagnostic tool to the clinicians. [National J of Med Res 2012; 2(3.000: 287-290

  16. Pain in thalassemia - an emerging complication

    Directory of Open Access Journals (Sweden)

    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. Phase III trial of postoperative cisplatin, interferon alpha-2b, and 5-FU combined with external radiation treatment versus 5-FU alone for patients with resected pancreatic adenocarcinoma – CapRI: study protocol [ISRCTN62866759

    Directory of Open Access Journals (Sweden)

    Schmitz-Winnenthal H

    2005-04-01

    Full Text Available Abstract After surgical intervention with curative intention in specialised centres the five-year survival of patients with carcinoma of the exocrine pancreas is only 15%. The ESPAC-1 trial showed an increased five-year survival of 21% achieved with adjuvant chemotherapy. Investigators from the Virginia Mason Clinic have reported a 5-year survival rate of 55% in a phase II trial evaluating adjuvant chemotherapy, immunotherapy and external-beam radiation. Design The CapRI study is an open, controlled, prospective, randomised multi-centre phase III trial. Patients in study arm A will be treated as outpatients with 5-Fluorouracil; Cisplatin and 3 million units Interferon alpha-2b for 5 1/2 weeks combined with external beam radiation. After chemo-radiation the patients receive continuous 5-FU infusions for two more cycles. Patients in study arm B will be treated as outpatients with intravenous bolus injections of folinic acid, followed by intravenous bolus injections of 5-FU given on 5 consecutive days every 28 days for 6 cycles. A total of 110 patients with specimen-proven R0 or R1 resected pancreatic adenocarcinoma will be enrolled. An interim analysis for patient safety reasons will be done one year after start of recruitment. Evaluation of the primary endpoint will be performed two years after the last patients' enrolment. Discussion The aim of this study is to evaluate the overall survival period attained by chemo-radiotherapy including interferon alpha 2b administration with adjuvant chemotherapy. The influence of interferon alpha on the effectiveness of the patients' chemoradiation regimen, the toxicity, the disease-free interval and the quality of life are analysed. Different factors are tested in terms of their potential role as predictive markers.

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

    NARCIS (Netherlands)

    Crielaard, Bart J; Rivella, Stefano

    2014-01-01

    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 erythrocyte

  19. Some endocrinal aspects of pancreas in beta thalassemia

    International Nuclear Information System (INIS)

    The study was carried out to evaluate endocrinal aspects of the pancreas in thalassemia children, ages 5 - 10 years maintained under either regular or irregular iron chelation therapy. A matched control on healthy children, was included for comparison. As regards laboratory findings, fasting and post prandial blood sugar was significantly elevated in thalassemia children than the control and serum insulin was significantly lower in the irregular iron chelation group than both in the regular one and in the control group. Most cases of diabetic thalassemia children clinically and biochemically were of irregular iron chelation and with older age. They were frequently higher transfused. There is significant rise of serum ferritin in diabetic group than in diabetic thalassemia children. In conclusion, pancreatic dysfunction can be detected in thalassemia children, but regular iron chelation can reduce its occurrence. 10 tabs

  20. Death cap

    DEFF Research Database (Denmark)

    Rudbæk, Torsten R; Kofoed, Pernille Bouteloup; Bove, Jeppe;

    2014-01-01

    Death cap (Amanita phalloides) is commonly found and is one of the five most toxic fungi in Denmark. Toxicity is due to amatoxin, and poisoning is a serious medical condition, causing organ failure with potential fatal outcome. Acknowledgement and clarification of exposure, symptomatic and focused...... treatment is of primary importance. No data from randomised, controlled trials on management exists, and there is not international consensus on treatment regime. We present amatoxin-case contacts to the Danish Poison Centre from 2006-2012 and summarize current knowledge and Danish recommendations...

  1. Reactor neutron activation analysis for aluminium in the presence of phosphorus and silicon. Contributions of /sup 28/Al activities from /sup 31/P (n,. cap alpha. ) /sup 28/Al and /sup 28/Si (n,p) /sup 28/Al reactions

    Energy Technology Data Exchange (ETDEWEB)

    Mizumoto, Yoshihiko (Kinki Univ., Higashi-Osaka, Osaka (Japan). Faculty of Science and Technology); Iwata, Shiro; Sasajima, Kazuhisa; Yoshimasu, Fumio; Yase, Yoshiro

    1984-01-01

    Reactor neutron activation analysis for aluminium in samples containing phosphorus and silicon was studied. The experiments were performed by using pneumatic tube of the Kyoto University Reactor (KUR). At first, the ratios of the /sup 28/Al activity produced from /sup 27/Al(n, ..gamma..) /sup 28/Al reaction by thermal neutrons to that from /sup 31/P(n, ..cap alpha..)/sup 28/Al reaction by fast neutrons, and to that from /sup 28/Si(n, p)/sup 28/Al reaction were measured by ..gamma..-ray spectrometry. With a ratio of about 5 for the thermal to fast neutron flux of KUR, the ratio of the /sup 28/Al activity from aluminium to that from phosphorus was to be 812 +- 7, and to that from silicon 282 +- 3. Secondly, the contributions of /sup 28/Al activities from phosphorus and silicon and the determination limit of aluminium were calculated for various parameters, such as fast neutron flux, thermal to fast neutron flux ratio, amounts of phosphorus and silicon, etc. Thirdly, on the basis of these results, aluminium contents in spinal cords and brains of amyotrophic lateral sclerosis, Parkinsonism-dementia complex and control cases were determined.

  2. Hubungan Tipe Thalassemia β serta Polimorfisme c.-582 A>G Promotor Gen HAMP dan Status Besi thalassemia β Berat Baru

    Directory of Open Access Journals (Sweden)

    Susi Susanah

    2015-09-01

    Full Text Available Iron overload is the common cause of morbidity and mortality in severe β-thalassemia patients. Many factors influence the iron status in severe β-thalassemia. This study aimed to analyze the association of β-thalassemia type, polymorphism c.-582 A>G promotor hepcidine antimicrobacterial peptide (HAMP gene, and iron status in newly diagnosed severe β-thalassemia. A cross-sectional study was performed at Dr. Hasan Sadikin General Hospital/Faculty of Medicine, Universitas Padjadjaran Bandung from November to December 2012. Subjects were newly diagnosed severe β-thalassemia patients who were diagnosed based on clinical manifestation and laboratory examination. Subjects had not received any blood transfusion before and had normal CRP level. Transferrin saturation (TS and serum ferritin (SF levels indicate iron status. The statistical analysis was performed using t test, Mann-Whitney, and Chi square test. Twenty nine subjects were diagnosed as newly severe β-thalassemia, 24 β-thalassemia mayor and 5 with severe β-thalassemia/HbE. There was no difference in the iron status between the two types of severe β-thalassemia and between those with and without polymorphism of c.-582 A>G promotor HAMP gene in newly diagnosed severe β-thalassemia (p>0.05. In conclusiosn, the β-thalassemia type and polymorphism of c.-582 A>G promotor HAMP gene do not associate with the iron status in newly diagnosed severe β-thalassemia patients.

  3. Infusion of Autologous Retrodifferentiated Stem Cells into Patients with Beta-Thalassemia

    Directory of Open Access Journals (Sweden)

    Ilham Saleh Abuljadayel

    2006-01-01

    Full Text Available Beta-thalassemia is a genetic, red blood cell disorder affecting the beta-globin chain of the adult hemoglobin gene. This results in excess accumulation of unpaired alpha-chain gene products leading to reduced red blood cell life span and the development of severe anemia. Current treatment of this disease involves regular blood transfusion and adjunct chelation therapy to lower blood transfusion–induced iron overload. Fetal hemoglobin switching agents have been proposed to treat genetic blood disorders, such as sickle cell anemia and beta-thalassemia, in an effort to compensate for the dysfunctional form of the beta-globin chain in adult hemoglobin. The rationale behind this approach is to pair the excess normal alpha-globin chain with the alternative fetal gamma-chain to promote red blood cell survival and ameliorate the anemia. Reprogramming of differentiation in intact, mature, adult white blood cells in response to inclusion of monoclonal antibody CR3/43 has been described. This form of retrograde development has been termed “retrodifferentiation”, with the ability to re-express a variety of stem cell markers in a heterogeneous population of white blood cells. This form of reprogramming, or reontogeny, to a more pluripotent stem cell state ought to recapitulate early hematopoiesis and facilitate expression of a fetal and/or adult program of hemoglobin synthesis or regeneration on infusion and subsequent redifferentiation. Herein, the outcome of infusion of autologous retrodifferentiated stem cells (RSC into 21 patients with beta-thalassemia is described. Over 6 months, Infusion of 3-h autologous RSC subjected to hematopoietic-conducive conditions into patients with beta-thalassemia reduced mean blood transfusion requirement, increased mean fetal hemoglobin synthesis, and significantly lowered mean serum ferritin. This was always accompanied by an increase in mean corpuscular volume (MCV, mean corpuscular hemoglobin (MCH, and mean

  4. IRON CHELATION THERAPY IN THALASSEMIA SYNDROMES

    Directory of Open Access Journals (Sweden)

    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

  5. Bone marrow transplantation in patients with Thalassemia

    Directory of Open Access Journals (Sweden)

    Ghavamzadeh A

    1993-05-01

    Full Text Available During April, 1991 and September, 1993, eighteen patients with major thalassemia admitted to Shariati BMT center. Seventeen patients were transplanted were from HLA identical siblings and one from. his HLA identical father. Eleven of the donors were the known cases of minor thalassemia. The range of patients' age was within 3-10 years (with the average of 5 years and 11 months. Among them, seven patients were male and eleven were female. As the other international BMT centers, we classified our patients into three classes. Our criteria for this classification were hepatomegaly, ferretin, and liver fibrous; 60% of our patients were put in class I and 40% in class II. All of our patients revealed a GVHD (severe graft vs. host disease three weeks post-BMT as pruritus, diarrhea, and skin erythema especially in hands and feet. Two of the patients showed severe GVHD. One of the patients had chimerism after BMT. Although one year after BMT has passed, the patients is still depended on blood transfusion. One patient, despite graft rejection, died nine months post-BMT; another one died after +70 due to GVHD. During 2.5 years, the overall graft survival rate was 88% in our center

  6. Role of thalassemia screening in prevention and control of thalassemia - a 5 year experience

    Directory of Open Access Journals (Sweden)

    Suman Lata Mendiratta

    2016-09-01

    Conclusions: Lack of awareness, late registration, husbands not coming/turning up for their test and and ldquo;at risk couples and rdquo; opting out of prenatal diagnosis are the cause of thalassemia major births which can be prevented if awareness is generated amongst masses, screening and prenatal genetic diagnosis services are made widely available. [Int J Reprod Contracept Obstet Gynecol 2016; 5(9.000: 3107-3111

  7. β-Thalassemia and Polycythemia vera: targeting chronic stress erythropoiesis

    OpenAIRE

    Crielaard, Bart J.; Rivella, Stefano

    2014-01-01

    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 erythrocytes and anemia, while patients with Polycythemia vera present with high hemoglobin levels because of excessive red blood cell synthesis – both pathologies may characterized by lasting high erythropoi...

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  9. Diabetes mellitus in β-thalassemia major patients

    Directory of Open Access Journals (Sweden)

    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

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

    International Nuclear Information System (INIS)

    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 mm3, 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

  11. New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia.

    Science.gov (United States)

    D'Alcamo, Elena; Agrigento, V; Pitrolo, L; Sclafani, S; Barone, R; Calvaruso, G; Buffa, V; Maggio, A

    2016-06-01

    Congenital dyserythropoietic anemia type I is an autosomal recessive disorder associated with macrocytic anemia, ineffective erythropoiesis, iron overloading and characterized by abnormal chromatin ultrastructure in erythroblasts such as internuclear chromatin bridges, spongy heterochromatin and invagination of the nuclear membrane. A 58-year-old Causasian man with chronic hemolytic anemia, heterozygous for β (+) -globin IVS1, nt110 G>A mutation (causing abnormal alpha:beta globin chain ratio) showed clinical, laboratory and hematological features suggesting diagnosis of CDA1. Sequence analysis of CDA-related genes revealed compound heterozygosity for two novel mutations in the CDAN1 gene: a frameshift mutation 3367 del 4 (TTAG) in exon 25 and a missense mutation c.1811 G>T in exon 11 causing an aminoacid change from glycine to valine at codon 565 (G565V). One of the propositus' brothers showed the same gene mutations. As the CDA1 can mimic thalassemia, a frequent misdiagnosis is possible especially in countries where the prevalence of thalassemia is high. A strong clinical suspicion in patients who do not reveal a clear genetic basis for presumed thalassemia may help clinch the correct diagnosis. PMID:27408412

  12. Synthesis of tritiated 1-alpha-methadol and 1-alpha-acetylmethadol

    Energy Technology Data Exchange (ETDEWEB)

    Thang, D.C.; Nam, N.H.; Pontikis, R. (Institut National de la Sante et de la Recherche Medicale (INSERM), Hopital Fernand Widal, 75 - Paris (France)); Pichat, L. (CEA Centre d' Etudes Nucleaires de Saclay, 91 - Gif-sur-Yvette (France). Service des Molecules Marquees)

    1982-04-01

    dl-Methadone was resolved by crystallization of its ammonium d- ..cap alpha.. -bromocamphor-..pi..-sulfonate salt to give d-methadone. The latter in ethyl acetate solution was reduced with tritium gas to 1-..cap alpha..-methadol /sup 3/H in presence of Adams platinum oxide at normal temperature and pressure. Acetylation of 1-..cap alpha..-carbinol hydrochloride by means of acetyl chloride afforded 1-..cap alpha..-acetylmethadol /sup 3/H, specific activity: 20 Ci/mMole. The positions and extent of tritium labelling were determined by /sup 3/H NMR spectroscopy.

  13. Prevalence and specificities of red cell alloantibodies in transfusion-dependent beta thalassemia patients in Yazd

    OpenAIRE

    Vaziri, M.; JavadzadehShahshahani, H; Moghaddam, M.; Taghvaee, N

    2015-01-01

    Background Multiple transfusions in thalassemia patients may lead to antibody production against blood group antigens and hemolytic transfusion reaction might occur. In this study, antibody screening test was performed by tube and gel methods to determine the prevalence and specificity of alloantibodies in thalassemia patients. Materials and Methods In this cross-sectional study, overall of 100 thalassemia patients from Yazd thalassemia clinic were recruited from July to September 2013. Two b...

  14. Helium precipitation in. cap alpha. -Fe

    Energy Technology Data Exchange (ETDEWEB)

    Caspers, L.M.; van Veen, A.; Ypma, M.R.; van der Kolk, G.J. (Interuniversitair Reactor Inst., Delft (Netherlands))

    1982-03-16

    The filling of a vacancy with helium atoms is studied with a programme simulating the relaxation of lattice atoms around the complex. Three filling modes are described. Helium filled V/sub 2/, V/sub 3/, and V/sub 4/ complexes are also considered and the energetics of the mutation reactions of He/sub n/V ..-->.. He/sub m>n/V/sub 2/ ..-->.. He/sub p>m/V/sub 3/ ..-->.. He/sub q>p/V/sub 4/ is studied. It is shown that these mutation reactions are more probable when the emitted interstitials remain bound to the mutation products. The He/sub n/V/sub m/I/sub p/ complexes thus formed are stable against reduction, in agreement with experiments. Also the formation of these complexes could explain why helium precipitation proceeds in a two-dimensional way as observed by TEM. The general trend found in helium desorption measurements viz. a decrease in helium binding energy until some 6 to 10 He atoms are trapped and thereafter an increase in binding energy is also found in this computer simulation study.

  15. GENETIC FACTORS INFLUENCING HEMOGLOBIN F LEVEL IN β-THALASSEMIA/HB E DISEASE.

    Science.gov (United States)

    Ruangrai, Waraporn; Jindadamrongwech, Sumalee

    2016-01-01

    Genetic factors influencing Hb F content in adult red blood cells include β-thalassemia genotypes, co-inheritance of α-thalassemia traits and single nucleotide polymorphisms (SNPs). Genotyping of α- and β-thalassemia and five SNPs in β-globin gene cluster previously identified in genome-wide association studies as being markers of elevated Hb F in β-thalassemia were performed in 81 subjects diagnosed with β-thalassemia/Hb E. Hb F levels are higher (0.9-7.1 g/dl) in subjects (n = 57) with the severe compared to mild β-thalassemia (0.8-2.5 g/ dl) (n = 4) genotypes, and are similarly low (0.7-3.5 g/dl) in those (n = 15) with α-thalassemia co-inheritance. Hb F levels in non-thalassemia controls (n = 150) range from 0 to 0.15 g/dl. The presence of homozygous minor alleles of the 5 SNPs are significant indicators of β-thalassemia/Hb E individuals with high Hb F (> 4 g/dl), independent of their thalassemia genotypes. Given that re-activation of γ-globin genes leads to amelioration of β-thalassemia severity, understanding how genetic factors up-regulate Hb F production may lead to possible therapeutic interventions, genetically or pharmacologically, of this debilitating disease in the not too distant future. PMID:27086429

  16. Thalassemia 2016: Modern medicine battles an ancient disease.

    Science.gov (United States)

    Rund, Deborah

    2016-01-01

    Thalassemia was first clinically described nearly a century ago and treatment of this widespread genetic disease has greatly advanced during this period. DNA-based diagnosis elucidated the molecular basis of the disease and clarified the variable clinical picture. It also paved the way for modern methods of carrier identification and prevention via DNA-based prenatal diagnosis. Every aspect of supportive care, including safer blood supply, more regular transfusions, specific monitoring of iron overload, parenteral and oral chelation, and other therapies, has prolonged life and improved the quality of life of these patients. Significant advances have also been made in allogenic bone marrow transplantation, the only curative therapy. Recently, there has been a rejuvenated interest in studying thalassemia at the basic science level, leading to the discovery of previously unknown mechanisms leading to anemia and enabling the development of novel therapies. These will potentially improve the treatment of, and possibly cure the disease. Pathways involving activin receptors, heat shock proteins, JAK2 inhibitors and macrophage targeted therapy, among others, are being studied or are currently in clinical trials for treating thalassemia. Novel types of genetic therapies are in use or under investigation. In addition to the challenges of treating each individual patient, the longer survival of thalassemia patients has raised considerations regarding worldwide control of thalassemia, since prevention is not universally implemented. This review will trace a number of the original medical milestones of thalassemia diagnosis and treatment, as well as some of the most recent developments which may lead to innovative therapeutic modalities. PMID:26537527

  17. Variable Clinical Phenotypes of α-Thalassemia Syndromes

    Directory of Open Access Journals (Sweden)

    Sylvia Titi Singer

    2009-01-01

    Full Text Available Genetic mutations of the α genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of α-thalassemia, namely hemoglobin (Hb H disease and Hb Bart's hydrops fetalis. The latter is generally a fatal intrauterine condition, while Hb H disease results in clinical complications that are frequently overlooked. The high prevalence of the carrier state and the burden of these diseases (and other α-thalassemia variants call for more attention for improved screening methods and better care.

  18. Xmni polymorphism and disease severity in patients with beta thalassemia from northern Pakistan

    International Nuclear Information System (INIS)

    Thalassemia is a heterogeneous disorder and several genetic factors influence the severity of thalassemia. An accurate and early diagnosis of a mild thalassemia genotype helps to avoid unnecessary transfusion and its complications. The aim of this study is to identify the association between XmnI polymorphism and disease severity in patients with ?-thalassemia from northern Pakistan. Methods: The cross sectional study was conducted at the Department of Haematology, Armed Forces Institute of Pathology (AFIP) Rawalpindi, from September 2006 to June 2009. A total of 90 subjects including 30 with thalassemia major, 30 with thalassemia intermedia and 30 normal individuals were studied. DNA from each subject was tested for 15 ?-thalassemia mutations and the presence of XmnI polymorphism using Amplification Refractory Mutation System and Restriction Fragment Length Polymorphism respectively. Results: One normal and one thalassemia major subject were found to be positive for homozygous and heterozygous XmnI polymorphism respectively. Among the thalassemia intermedia group, XmnI polymorphism was found in 12/30 patients, of whom 10 were homozygous and 2 were heterozygous for it. Conclusion: XmnI polymorphism is an important genotypic factor in Pakistani population for making a prospective diagnosis of thalassemia intermedia and predicting the severity of the disease. (author)

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

    Directory of Open Access Journals (Sweden)

    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.

  20. Laboratory on thalassemia which is a public health problem

    Directory of Open Access Journals (Sweden)

    Çiğdem Sönmez

    2014-12-01

    a technique which has critical importance, it assists to make families have healthy children. In this review it is evaluated that in thalassemia what are the old and new laboratory parameters that are used in discrimination of iron deficiency anemia and other anemias; besides how they are used.

  1. Study of glycolytic intermediates in hereditary elliptocytosis with thalassemia

    Directory of Open Access Journals (Sweden)

    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.

  2. The Thalassemia International Federation: a global public health paradigm

    Directory of Open Access Journals (Sweden)

    Elpidoforos S. Soteriades

    2014-09-01

    Full Text Available Many international organizations are struggling today to coordinate limited economic and human resources in support of governments’ efforts to advance public health around the world. The United Nations and the World Health Organization, along with others play a pivotal role in this global effort. Furthermore, during the past few decades an increasingly higher percentage of global efforts on public health are carried out by specific health initiatives, international projects and non-governmental patient-oriented organizations. The Thalassemia International Federation (TIF is one such organization focusing on the control of thalassemia around the world. The current paper aims at presenting a comprehensive overview of the mission, goals, objectives and activities of this organization. Our ultimate goal is to highlight TIF’s public health paradigm and diffuse its success at an international levels for others to follow. TIF is devoted to disseminating information, knowledge, experience and best practices around the world to empower patients with thalassemia and their relatives, support health professionals providing care to such patients and promote national and international policies, which secure equal access to quality care for all patients with thalassemia.

  3. 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

  4. Factors associated with psychiatric disorders that experience individuals with thalassemia

    Directory of Open Access Journals (Sweden)

    Ioannis Koutelekos

    2013-04-01

    Full Text Available Thalassemia is an inherited blood disorder characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable health problems. The chronicity and the nature of the disease impose significant limitations on individuals' life and as a result they frequently experience anxiety and depression. Aim: The aim of the present study was to review the literature about factors associated with psychiatric disorders that experience patients with thalassemia. Method: The method of this study included bibliographic research of the literature from reviews and researches, mainly in the PubMed data base, which referred to the factors associated with psychiatric disorders in patients with thalassaemia. PubMed was searched using the following key search terms: "anxiety", "depression", "thalassaemia" while the research covered the period 1996-2011. Results: Though the developments in the treatment and prognosis of thalassemia have dramatically altered the approach to the care of patients, however the psychological aspects of the disease have received little attention since the number of relevant studies are generally limited. According to the literature, patients with thalassemia frequently experience psychiatric disorders (anxiety and depression due to various reasons, out of which the main are the chronicity of disease, the disease complications, the financial, social and personal problems, the lack of family and social support, the change in body image and the reduction of self-esteem level. Symptoms of anxiety and depression may influence negatively the outcome of the disease including low adherence to treatment, increased morbidity and poor quality of life. Conclusions: A regular screening for anxiety and depression symptoms and identification of individuals at high risk should be an integral part of medical therapy. Early screening implies early treatment and provides valuable information for the planning of intervention programs

  5. Vitamin E effect on osmotic fragility in β thalassemia major

    Directory of Open Access Journals (Sweden)

    Agus Fitrianto

    2014-09-01

    Full Text Available Background Blood transfusion remains the main therapy for anemia in β thalassemia major patients. However, frequent transfusions can cause oxidative stress in response to iron overload. Vitamin E is considered to be the best lipid-soluble exogenous antioxidant in humans. It can protect phospholipid membrane from peroxidation. Erythrocyte osmotic fragility is a useful test to assess for the improvement of red blood cells in thalassemia patients after vitamin E supplementation. Objective To investigate the effect of vitamin E for improving erythrocyte osmotic fragility in β- thalassemia major and for decreasing the need for frequent transfusions. Methods This was a double blind placebo controlled randomized clinical trial on children aged 2-14 years with thalassemia major who received frequent blood transfusions. Fifty subjects were divided into 2 groups: group I with vitamin E supplementation and group II with placebo, as a control group, for a period of 1 month. Pre- and post-treatment data on erythrocyte osmotic fragility and hemoglobin level were analyzed with non-paired T-test. Results Improved erythrocyte osmotic fragility was found: in group I, pre-treatment 31.59 (SD 6.342% to post-treatment 38.08 (SD 7.165%, compared to the control group pre-treatment 34.40 (SD 6.985% to post-treatment 29.26 (SD 9.011% (P=0.0001. Comparison of the mean delta Hb level in group I was 0.94 (SD 0.605 gr% and that of group II was - 0.23 (SD 1.199 gr% (P= 0.0001. Conclusion Vitamin E supplementation improves erythrocyte fragility and Hb level in β-thalassemia major pediatric patients. [Paediatr Indones. 2014;54:280-3.].

  6. Production and characterization of monoclonal antibodies against α-globin chain-containing human hemoglobins for detecting α-thalassemia disease.

    Science.gov (United States)

    Pakdeepak, Kanet; Pata, Supansa; Chiampanichayakul, Sawitree; Kasinrerk, Watchara; Tatu, Thanusak

    2016-01-01

    Monoclonal antibodies against α-globin containing human Hbs, named AMS-Alpha1 and AMS-Alpha 2, were produced by the hybridoma technique using spleen cells enriched by the newly developed B lymphocyte enrichment protocol. These two monoclonal antibodies were of IgM class, reacting to only intact form of human Hbs A, A2, E, and F, which contain α-globin chain. By the indirect ELISA, the AMS-Alpha1 and AMS-Alpha 2 quantified less amount of α-globin chain containing hemoglobins in HbH disease than the SEA-α thalassemia 1 carriers and normal individuals. It was thus anticipated that these monoclonal antibodies can be used for detecting Hb Bart's hydrops fetalis in which no α-globin chain is produced. PMID:27050832

  7. Study of Serum Haptoglobin Level and its Relation to Erythropoietic Activity in Beta Thalassemia Children

    OpenAIRE

    Seham M. Ragab; Safan, Manal A.; Badr, Eman A.

    2015-01-01

    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 transfe...

  8. A successful twin pregnancy in a patient with HbE-β-thalassemia in western India

    OpenAIRE

    R Merchant; K Italia; Ahmed, J.; Ghosh, K.; Colah, R.B.

    2015-01-01

    Improvements in medical facilities have helped a large number of clinically severe hemoglobin E (HbE)-β-thalassemia patients reach adulthood. Consequently, there is a new challenge, that of managing women with HbE-β-thalassemia during pregnancy. In particular, they have a high risk of abortion, preterm delivery, intrauterine growth restriction, and thromboembolism. A 27-year-old HbE-β-thalassemia patient on regular transfusion, who was splenectomized and heptatitis C (HCV)-positive, conceived...

  9. Coincidence of Niemann-Pick Disease and Beta-Thalassemia; a Case Report

    OpenAIRE

    Fatemeh Farahmand; Vajiheh Modaresi; Mina Izadyar; Fatemeh Mahjob

    2010-01-01

    Background: Niemann-Pick disease and β-thalassemia are distinct conditions with specific clinical and morphological manifestations. β-thalassemia is the most common inherited blood disorder in Iran whereas Niemann-Pick disease, a lysosomal storage disorder, is rarely found in this country.Case Presentation: This 5-month old girl, a known case of β-thalassemia major was hospitalized for failure to thrive and hepathosplenomegaly. Because of unusual splenomegaly and liver enzymes disturbance tha...

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

    Directory of Open Access Journals (Sweden)

    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.

  11. The "lively" cytokines network in beta-Thalassemia Major-related osteoporosis.

    Science.gov (United States)

    Morabito, Nunziata; Russo, Giuseppina T; Gaudio, Agostino; Lasco, Antonino; Catalano, Antonio; Morini, Elisa; Franchina, Fabio; Maisano, Domenica; La Rosa, Mariangela; Plota, Maria; Crifò, Adolfa; Meo, Anna; Frisina, Nicola

    2007-06-01

    Osteoporosis affects approximately 40-50% of adult patients with beta-Thalassemia Major (beta TM). Recent data have implicated an altered modulation of the osteoprotegerin (OPG)/receptor activator of NFkB ligand (RANKL) system in the pathogenesis of beta TM-osteoporosis. OPG/RANKL system acts downstream from IL-1 alpha, IL-6 and TNF-alpha and it may be the final actor mediating the effects of these cytokines on the regulation of both postmenopausal and metabolic bone resorption. However, to date, there are no data on circulating levels of these pro-resorptive cytokines in beta TM patients. We investigated the potential relationships among these cytokines, several markers of bone turnover and bone mineral density (BMD) in beta TM patients. IL-1 alpha, IL-6 and TNF-alpha, OPG and RANKL serum levels, hemato-urinary bone remodeling markers and bone mineral density (BMD) at L2L4 and femoral neck as well as erythropoietin (EPO), 17beta-estradiol, and free-testosterone levels were measured in 30 well treated beta TM patients and in 20 healthy subjects, matched for age, sex and BMI with the patients. beta TM patients showed an altered bone turnover, with increased deoxypyridinoline (D-PYR) levels (P<0.0001), decreased osteocalcin (BGP) concentrations (<0.0001) and significantly lower lumbar (P=0.001) and femoral (P<0.05) BMD values as compared to controls. Circulating levels of IL-1 alpha (P<0.0001), TNF-alpha (P<0.0001) and IL-6 (P<0.05) were all increased in beta TM patients as compared with controls. In beta TM patients, IL-1 alpha was significantly related with D-PYR (r=0.5; P<0.05), RANKL (r=0.7; P=0.03) and IL-6 (r=0.3; P=0.006); IL-6 was also significantly correlated with D-PYR (r=0.5; P<0.05) and EPO levels (r=0.3; P=0.03); TNF-alpha showed a negative correlation with L2L4 BMD (r=-0.4; P<0.05). Our data demonstrate, for the first time, an association between increased circulating levels of pro-resorptive cytokines and an altered bone turnover in beta TM

  12. Síndrome de Plummer-Vinson: uma rara associação na talassemia Plumer-Vinson syndrome: a rare association with thalassemia

    Directory of Open Access Journals (Sweden)

    Eduardo Crema

    2007-12-01

    Full Text Available A síndrome de Plummer-Vinson é caracterizada por disfagia cervical, deficiência de ferro e presença de membrana esofágica. Neste estudo, relatam-se dois casos dessa síndrome em irmãos adolescentes. Eles não obtiveram aumento dos níveis hematimétricos após reposição com ferro oral, o que, associado à eletroforese de hemoglobinas, sustentou o diagnóstico de talassemia concomitante. Devido ao quadro dos filhos, os pais foram também submetidos à eletroforese de hemoglobinas cujo diagnóstico do pai foi talassemia alfa/beta menor e da mãe, talassemia alfa menor. Os irmãos tiveram disfagia refratária e necessitaram de dilatação endoscópica. Ambos necessitaram de terapia com ferro venoso com melhora dos níveis hematimétricos.Plummer-Vinson syndrome is characterized by cervical dysphagia, iron deficiency and the presence of esophageal membranes. We report two cases of this syndrome present in adolescent brothers with associated thalassemia. After oral iron therapy, their hematimetric levels showed no increase, which associated with the results of hemoglobin electrophoresis, sustained the diagnosis of thalassemia. Due to the condition of the children, the parents were submitted to hemoglobin electrophoresis examinations; the father was diagnosed as having minor alpha/beta thalassemia and the mother as minor beta thalassemia. Both patients suffered from refractory dysphagia and required endoscopic dilatation. They both underwent venous iron therapy, which improved the hematimetric levels.

  13. Screening and genetic diagnosis of childhood thalassemia in Sanya city%三亚市儿童地中海贫血筛查及基因分析

    Institute of Scientific and Technical Information of China (English)

    陈爱华; 陈垂海; 陈求珠; 周祥敏; 陈垂婉; 陈垂任; 霍开明

    2015-01-01

    ObjectiveTo investigate the incidence and gene mutation spectrum of childhood thalassemia in Sanya city. MethodsThere were 938 children in our hospital screened by routine blood test, C-reactive protein test and hemoglobinelectro-phoresis. Based on the screening results in children with thalassemia and its subtypes, the alpha thalassaemia children were diag-nosed by gap - polymerase chain reaction, while the beta thalassaemia ones were diagnosed by polymerase chain reaction-reverse dot blot, and all the results were retrospectively analyzed.ResultsScreening positive rate of thalassemia anemia was 13.65% (128/938), genetic diagnosis positive rate was 11.41% (107/938). In 107 cases diagnosed with thalassemia by genetic test, 59 were alpha thalassaemia, and 46 were beta thalassaemia, and 2 cases were alpha thalassaemia combined with beta thalassaemia. In 59 cases of alpha thalassaemia, 31 had genotype of - SEA/alpha alpha , 13 cases with genotype alpha 4.2 / alpha alpha, and 6 were of HbH disease. In the 46 cases of beta thalassaemia children, six gene locus mutations were found : CD41-42 (CTTT) in 21 cases, TATAbox - 28 (A - G) in 13 cases, CDs14/15 (G) in 5 cases, IVS - Int 654 (C - > T) in 4 cases, CD17 (A - > T) in 2 cases, and 27-28 (C) in 1 case.ConclusionHigh prevalence of thalassemia in children from Sanya city warrants genetic counseling, premarital check-up and prenatal diagnosis.%目的:调查三亚市儿童地中海贫血的发病率和基因突变类型。方法对938例儿童进行血常规、CRP检测和血红蛋白电泳试验,筛查地中海贫血发生情况及其所属类型;对α-地中海贫血患儿用gap-PCR法、β-地中海贫血患儿用PCR-RDB法进行基因诊断。结果地中海贫血筛查阳性率为13.65%(128/938),基因诊断阳性率为11.41%(107/938)。在107例经基因诊断确诊为地中海贫血的患儿中,α-地中海贫血59例,β-地中海贫血46例,α合并β地中海贫血2例。59例α-地中海

  14. Microtubule's conformational cap

    DEFF Research Database (Denmark)

    Chretien, D.; Janosi, I.; Taveau, J.C.;

    1999-01-01

    The molecular mechanisms that allow elongation of the unstable microtubule lattice remain unclear. It is usually thought that the GDP-liganded tubulin lattice is capped by a small layer of GTP- or GDP-P(i)-liganded molecules, the so called "GTP-cap". Here, we point-out that the elastic properties...

  15. Secondary haemochromatosis in a patient with thalassemia intermedia.

    Science.gov (United States)

    Rotaru, Ionela; Gaman, Amelia; Gaman, G

    2014-01-01

    Haemochromatosis is due to excessive accumulation of iron in tissues and organs impairing their function. The most common haematologic disorders that are subject to an intensive transfusion regimen bringing excess iron in the body are: thalassemia and myelodysplastic syndrome. The value of serum ferritin in these patients (indicator of iron stores condition) reaches high values. Red cell substitution bringing additional iron intake must be accompanied by administration of chelation therapy in order to prevent haemochromatosis and related complications. We present the case of a patient with thalassemia intermedia, integumentary secondary haemochromatosis, cirrhosis with haemochromatosis, and secondary diabetes, who died at the age of 33 years because of upper gastrointestinal bleeding due to the rupture of oesophageal varices. PMID:24791210

  16. Thermogravimetric analysis coupled with chemometrics as a powerful predictive tool for ß-thalassemia screening.

    Science.gov (United States)

    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. PMID:27474327

  17. alpha-Globin genes: thalassemic and structural alterations in a Brazilian population

    Directory of Open Access Journals (Sweden)

    M.R.S.C. Wenning

    2000-09-01

    Full Text Available Seven unrelated patients with hemoglobin (Hb H disease and 27 individuals with alpha-chain structural alterations were studied to identify the alpha-globin gene mutations present in the population of Southeast Brazil. The -alpha3.7, --MED and -(alpha20.5 deletions were investigated by PCR, whereas non-deletional alpha-thalassemia (alphaHphalpha, alphaNcoIalpha, aaNcoI, alphaIcalpha and alphaTSaudialpha was screened with restriction enzymes and by nested PCR. Structural alterations were identified by direct DNA sequencing. Of the seven patients with Hb H disease, all of Italian descent, two had the -(alpha20.5/-alpha3.7 genotype, one had the --MED/-alpha3.7 genotype, one had the --MED/alphaHphalpha genotype and three showed interaction of the -alpha3.7 deletion with an unusual, unidentified form of non-deletional alpha-thalassemia [-alpha3.7/(aaT]. Among the 27 patients with structural alterations, 15 (of Italian descent had Hb Hasharon (alpha47Asp->His associated with the -alpha3.7 deletion, 4 (of Italian descent were heterozygous for Hb J-Rovigo (alpha53Ala->Asp, 4 (3 Blacks and 1 Caucasian were heterozygous for Hb Stanleyville-II (alpha78Asn->Lys associated with the alpha+-thalassemia, 1 (Black was heterozygous for Hb G-Pest (alpha74Asp->Asn, 1 (Caucasian was heterozygous for Hb Kurosaki (alpha7Lys->Glu, 1 (Caucasian was heterozygous for Hb Westmead (alpha122His->Gln, and 1 (Caucasian was the carrier of a novel silent variant (Hb Campinas, alpha26Ala->Val. Most of the mutations found reflected the Mediterranean and African origins of the population. Hbs G-Pest and Kurosaki, very rare, and Hb Westmead, common in southern China, were initially described in individuals of ethnic origin differing from those of the carriers reported in the present study and are the first cases to be reported in the Brazilian population.

  18. Molecular Aspects of Bone Resorption in β-Thalassemia Major

    OpenAIRE

    Najmaldin Saki; Saeid Abroun; Fatemeh Salari; Fakher Rahim; Mohammad Shahjahani; Javad Mohammadi-Asl

    2016-01-01

    β-thalassemia is the most common single gene disorder worldwide, in which hemoglobin β-chain production is decreased. Today, the life expectancy of thalassemic patients is increased because of a variety of treatment methods; however treatment related complications have also increased. The most common side effect is osteoporosis, which usually occurs in early adulthood as a consequence of increased bone resorption. Increased bone resorption mainly results from factors such as delayed puberty, ...

  19. Secondary Haemochromatosis in a Patient with Thalassemia Intermedia

    OpenAIRE

    Rotaru, Ionela; Gaman, Amelia; GAMAN, G.

    2013-01-01

    Haemochromatosis is due to excessive accumulation of iron in tissues and organs impairing their function. The most common haematologic disorders that are subject to an intensive transfusion regimen bringing excess iron in the body are: thalassemia and myelodysplastic syndrome. The value of serum ferritin in these patients (indicator of iron stores condition) reaches high values. Red cell substitution bringing additional iron intake must be accompanied by administration of chelation therapy in...

  20. VITAMIN D STATUS IN THALASSEMIA MAJOR: AN UPDATE

    Directory of Open Access Journals (Sweden)

    Ashraf Tawfik Soliman

    2013-09-01

    Full Text Available The survival of patients with thalassemia major has progressively improved with advances in therapy; however, osteoporosis and cardiac dysfunction remain frequent complications. Adequate circulating levels of vitamin D are essential for optimal skeletal health and reducing fracture risk. Vitamin D deficiency and insufficiency is reported to be high in thalassemic patients in many countries despite the presence of good sunshine and routine prescription of 400–1,000 IU vitamin D per day. The risk of vitamin D deficiency in thalassemia and its relation to bone disease; including osteoporosis, rickets, scoliosis, spinal deformities and fractures as well as to cardiac dysfunction is discussed in this mini-review. Monitoring and maintaining normal serum level of 25-OH vitamin D through oral intake of vitamin D and early correction of VDD by oral or parental use of vitamin D may significantly improve bone mineral accretion and ameliorate cardiac function. The survival of patients with thalassemia major has progressively improved with advances in therapy; however, osteoporosis and cardiac dysfunction remain frequent complications. Adequate circulating levels of vitamin D are essential for optimal skeletal health and reducing fracture risk. Vitamin D deficiency and insufficiency is reported to be high in thalassemic patients in many countries despite the presence of good sunshine and routine prescription of 400–1,000 IU vitamin D per day. The risk of vitamin D deficiency in thalassemia and its relation to bone disease; including osteoporosis, rickets, scoliosis, spinal deformities and fractures as well as to cardiac dysfunction is discussed in this mini-review. Monitoring and maintaining normal serum level of 25-OH vitamin D through oral intake of vitamin D and early correction of VDD by oral or parental use of vitamin D may significantly improve bone mineral accretion and ameliorate cardiac function.

  1. Hypertriglyceridemia Thalassemia Syndrome: A Report of 4 Cases

    OpenAIRE

    Khera, Rachna; Singh, Meeta; Goel, Garima; Gupta, Parul; Singh, Tejinder; A P Dubey

    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.

  2. Hyperhemolysis in a patient with β-thalassemia major

    Directory of Open Access Journals (Sweden)

    Morawakage R

    2009-01-01

    Full Text Available A case of hyperhemolysis in a 2-year-old boy with β thalassemia major was noted. After several transfusions, he developed hyperhemolysis with a positive (C3d only direct antiglobulin test (DAT and no clinically significant RBC allo- or auto-antibodies. (There was a weak cold antibody, showing a narrow thermal range. Because there was no significant improvement with steroid and immunoglobulin infusions, cyclophosphamide therapy was tried with notable success.

  3. X-ray scattering signatures of β-thalassemia

    International Nuclear Information System (INIS)

    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-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; β-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 β-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-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.

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

    Directory of Open Access Journals (Sweden)

    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.

  5. Direct correlation between a negative autoregulatory response element at the cap site of the herpes simplex virus type 1 IE175 (alpha 4) promoter and a specific binding site for the IE175 (ICP4) protein.

    OpenAIRE

    Roberts, M S; Boundy, A; O'Hare, P; Pizzorno, M C; Ciufo, D M; Hayward, G S

    1988-01-01

    In transient-expression assays, the IE175 (alpha 4) promoter region of herpes simple virus is down-regulated after cotransfection with DNA encoding its own protein product (IE175 or ICP4). The inhibition by IE175 proved to be highly specific for its own promoter region and did not act on either the herpes simplex virus type 1 IE110 (alpha 0) or human cytomegalovirus major immediate-early promoters. Furthermore, the inhibition was still exhibited by IE175 effector plasmids driven by strong het...

  6. 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

  7. Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia.

    Science.gov (United States)

    Tan, K L; Tan, J A; Wong, Y C; Wee, Y C; Thong, M K; Yap, S F

    2001-01-01

    Beta-thalassemia major patients have chronic anemia and are dependent on blood transfusions to sustain life. Molecular characterization and prenatal diagnosis of beta3-thalassemia is essential in Malaysia because about 4.5% of the population are heterozygous carriers for beta-thalassemia. The high percentage of compound heterozygosity (47.62%) found in beta-thalassemia major patients in the Thalassaemia Registry, University of Malaya Medical Centre (UMMC), Malaysia, also supports a need for rapid, economical, and sensitive protocols for the detection of beta-thalassemia mutations. Molecular characterization of beta-thalassemia mutations in Malaysia is currently carried out using ARMS, which detects a single beta-thalassemia mutation per PCR reaction. We developed and evaluated Combine amplification refractory mutation system (C-ARMS) techniques for efficient molecular detection of two to three beta-thalassemia mutations in a single PCR reaction. Three C-ARMS protocols were evaluated and established for molecular characterization of common beta-thalassemia mutations in the Malay and Chinese ethnic groups in Malaysia. Two C-ARMS protocols (cd 41-42/IVSII #654 and -29/cd 71-72) detected the beta-thalassemia mutations in 74.98% of the Chinese patients studied. The CARMS for cd 41-42/IVSII #654 detected beta-thalassemia mutations in 72% of the Chinese families. C-ARMS for cd 41-42/IVSI #5/cd 17 allowed detection of beta-thalassemia mutations in 36.53% of beta-thalassemia in the Malay patients. C-ARMS for cd 41-42/IVSI #5/cd 17 detected beta-thalassemia in 45.54% of the Chinese patients. We conclude that C-ARMS with the ability to detect two to three mutations in a single reaction provides more rapid and cost-effective protocols for beta-thalassemia prenatal diagnosis and molecular analysis programs in Malaysia. PMID:11336396

  8. Reduced risk of uncomplicated malaria episodes in children with a+-thalassemia in northeastern Tanzania

    DEFF Research Database (Denmark)

    Enevold, Anders; Lusingu, John P; Mmbando, Bruno;

    2008-01-01

    The prevalence of human red blood cell (RBC) polymorphisms is high in areas of intense Plasmodium falciparum transmission, and individuals carrying these genetic traits are believed to be partially protected against severe malaria. However, it remains uncertain how RBC polymorphisms affect the...... susceptibility to uncomplicated malaria. We compared the risk of suffering from febrile, uncomplicated malaria between individuals carrying three common RBC polymorphisms (sickle cell trait, alpha(+)-thalassemia, and glucose-6-phosphate-dehydrogenase deficiency) and controls. The study was performed in an area...... of intense malaria transmission where 202 individuals 0-19 years of age were monitored clinically for a period of 6 months. RBC polymorphisms were assessed with molecular methods, and plasma antibodies to P. falciparum variant surface antigens (anti-VSA IgG) and glutamate-rich protein (anti-GLURP Ig...

  9. Minihepcidin peptides as disease modifiers in mice affected by β-thalassemia and polycythemia vera.

    Science.gov (United States)

    Casu, Carla; Oikonomidou, Paraskevi Rea; Chen, Huiyong; Nandi, Vijay; Ginzburg, Yelena; Prasad, Princy; Fleming, Robert E; Shah, Yatrik M; Valore, Erika V; Nemeth, Elizabeta; Ganz, Tomas; MacDonald, Brian; Rivella, Stefano

    2016-07-14

    In β-thalassemia and polycythemia vera (PV), disordered erythropoiesis triggers severe pathophysiological manifestations. β-Thalassemia is characterized by ineffective erythropoiesis, reduced production of erythrocytes, anemia, and iron overload and PV by erythrocytosis and thrombosis. Minihepcidins are hepcidin agonists that have been previously shown to prevent iron overload in murine models of hemochromatosis and induce iron-restricted erythropoiesis at higher doses. Here, we show that in young Hbb(th3/+) mice, which serve as a model of untransfused β-thalassemia, minihepcidin ameliorates ineffective erythropoiesis, anemia, and iron overload. In older mice with untransfused β-thalassemia, minihepcidin improves erythropoiesis and does not alter the beneficial effect of the iron chelator deferiprone on iron overload. In PV mice that express the orthologous JAK2 mutation causing human PV, administration of minihepcidin significantly reduces splenomegaly and normalizes hematocrit levels. These studies indicate that drug-like minihepcidins have a potential as future therapeutics for untransfused β-thalassemia and PV.

  10. Risk factors and mortality associated with an elevated tricuspid regurgitant jet velocity measured by Doppler-echocardiography in thalassemia: a Thalassemia Clinical Research Network report

    OpenAIRE

    Morris, Claudia R.; Kim, Hae-Young; Trachtenberg, Felicia; Wood, John; Quinn, Charles T.; Sweeters, Nancy; Kwiatkowski, Janet L.; Thompson, Alexis A.; Giardina, Patricia J.; Boudreaux, Jeanne; Olivieri, Nancy F.; Porter, John B.; Neufeld, Ellis J.; Vichinsky, Elliott P.

    2011-01-01

    An elevated tricuspid regurgitant jet velocity (TRV) is associated with hemolysis and early mortality in sickle cell disease, yet risk factors, clinical parameters, and mortality associated with this biomarker in thalassemia are poorly defined. This report summarizes the prevalence of an elevated TRV in 325 patients screened by Doppler echocardiography in the Thalassemia Clinical Research Network. A documented TRV was reported in 148 of 325 (46%) of patients. Average age was 25.9 years (range...

  11. A Phrygian Cap

    Directory of Open Access Journals (Sweden)

    Marie-Janne S. van Kamp

    2013-08-01

    Full Text Available A Phrygian cap is a congenital anomaly of the gallbladder with an incidence of 4%. It can simulate a mass in the liver during hepatobiliary imaging and is sometimes mistaken for pathology. A Phrygian cap, however, has no pathological significance and normally causes no symptoms. A case will be presented where a Phrygian cap was found by coincidence during surgery. The patient was operated for colon cancer with liver metastasis in segment V. He underwent a simultaneous right hemicolectomy and wedge resection of the liver lesion. During perioperative inspection, a gallbladder with a folded fundus was seen. This deformity was, in retrospective, detected on the preoperative MRI scan. The patient underwent cholecystectomy to make the wedge resection easier to perform. Otherwise, cholecystectomy for a Phrygian cap is only indicated in case of symptoms. Radiographic imaging can be helpful in narrowing the differential diagnosis. To our knowledge, there is no recent literature about the Phrygian cap and its imaging aspects. Nowadays, multiphase MRI, or multiphase CT in case of MRI contraindication, are the first choices of hepatobiliary imaging.

  12. 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

  13. Thalassemia in Messina: a sociological approach to chronic disease

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    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

  14. Successful treatment of cap polyposis with infliximab.

    Science.gov (United States)

    Bookman, Ian D; Redston, Mark S; Greenberg, Gordon R

    2004-06-01

    Cap polyposis is a disorder characterized by bloody diarrhea with rectosigmoid polyps covered by a cap of fibropurulent exudate. The pathogenesis is unknown, but histological features suggest that mucosal prolapse may play a role. Drug therapies are usually unsuccessful, and treatment requires sigmoid resection or, if the disease recurs after initial surgical resection, panproctocolectomy. We report the case of a 36-year-old woman with characteristic clinical, endoscopic, and histological features of cap polyposis. Investigations included normal anorectal manometry and defecography, without evidence of prolapse. The patient's disease was unresponsive to treatment with mesalamine, antibiotics, lidocaine enemas, and corticosteroids. One infusion of infliximab 5 mg/kg provided dramatic symptomatic improvement but minimal endoscopic or histological change. After 4 infliximab infusions at 8-week intervals, endoscopy of the rectum and sigmoid colon was normal, and biopsies showed complete histological resolution of the inflammatory process. Well-being with normal endoscopy and histology has been maintained at 38 months, without further treatment. It was concluded that infliximab is effective therapy for cap polyposis and avoids the requirement for surgery. No clinical evidence was obtained to support mucosal prolapse as a causative factor, but the response to infliximab suggests a role for tumor necrosis factor-alpha in the pathogenesis of this disorder. PMID:15188181

  15. Physical growth in children with transfusion-dependent thalassemia

    Directory of Open Access Journals (Sweden)

    Harish K Pemde

    2011-02-01

    Full Text Available Harish K Pemde, Jagdish Chandra, Divya Gupta, Varinder Singh, Rajni Sharma, AK DuttaDepartment of Pediatrics, Lady Hardinge Medical College, Kalawati Saran Children's Hospital, New Delhi, IndiaObjective: To describe physical growth and related factors in transfusion-dependent thalassemia patients.Methods: This is a cross-sectional analysis of the records of the patients registered at and being followed up by the Thalassemia Day Care Center (TDCC at Kalawati Saran Children's Hospital, New Delhi, India. Clinical and laboratory parameters were recorded on a spreadsheet for analysis. Clinical parameters included weight, height, sexual maturity ratings, and general and systemic physical examination. Laboratory parameters included pretransfusion hemoglobin (Hb, periodic serum ferritin, and tests for viral markers of human immunodeficiency virus (HIV and hepatitis B and C. Z-scores for weight, height, and body mass index (BMI were calculated using World Health Organization reference data. Statistical analysis was carried out using Microsoft Excel® and Stata® software.Results: Out of 214 patients registered at the TDCC since 2001, 154 were included in this study. The mean age of patients was 9.19 years (range 0.5–20 years. Pretransfusion Hb was well maintained (mean 9.21 g/dL; 95% confidence interval [CI]: 9.06–9.36, but the mean serum ferritin levels were approximately three times (3112 ng/mL the desired value despite the patients being on deferiprone (72% or deferasirox (25%. One-third (33.11% of the patients had short stature, 13% were thin, and 10.82% were very thin (BMI z-score <-3. No patient was overweight or obese. Linear regression coefficient showed that for every 1-year increase in age, the mean ferritin value increased by 186.21 pg/mL (95% CI: 143.31–228.27. Height z-scores had significant correlation with mean ferritin levels, whereas correlation with mean pretransfusion Hb was not significant statistically. Mean ferritin levels

  16. Reactivation of fetal hemoglobin in thalassemia and sickle cell disease

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    Sandro Eridani

    2014-09-01

    Full Text Available Considerable attention has been recently devoted to mechanisms involved in the perinatal hemoglobin switch, as it was long ago established that the survival of fetal hemoglobin (HbF production in significant amount can reduce the severity of the clinical course in severe disorders like β-thalassemia and sickle cell disease (SCD. For instance, when β-thalassemia is associated with hereditary persistence of fetal hemoglobin (HPFH the disease takes a mild course, labeled as thalassemia intermedia. The same clinical amelioration occurs for the association between HPFH and SCD. As for the mechanism of this effect, some information has been obtained from the study of natural mutations at the human β-globin locus in patients with increased HbF, like the Corfu thalassemia mutations. Important evidence came from the discovery that drugs capable of improving the clinical picture of SCD, like decitabine ad hydroxycarbamide, are acting through the reactivation, to some extent, of HbF synthesis. The study of the mechanism of action of these compounds was followed by the identification of some genetic determinants, which promote this event. In particular, among a few genetic factors involved in this process, the most relevant appears the BCL11A gene, which is now credited to be able to silence γ-globin genes in the perinatal period by interaction with several erythroid-specific transcription factors and is actually considered as a barrier to HbF reactivation by known HbF inducing agents. Epigenetics is also a player in the process, mainly through DNA demethylation. This is certified by the recent demonstration that hypomethylating agents such as 5-azacytidine and decitabine, the first compounds used for HbF induction by pharmacology, act as irreversible inhibitors of demethyltransferase enzymes. Great interest has also been raised by the finding that several micro-RNAs, which act as negative regulators of gene expression, have been implicated in the

  17. Effect ALPHA Globalin Gene Deletion and GAMMA Globin Gene -158 (C/T) Polymorphism in BETA- Thalassaemic Patients

    International Nuclear Information System (INIS)

    The beta-thalassemias (β- thalassemias) are among the most common autosomal recessive disorders. They have a remarkably high frequency in the Mediterranean region and represent one of the most common genetic diseases in Egypt. In this study, the spectrum of P- thalassemia mutations and genotype-to-phenotype correlations were defined in 32 β- thalassaemic patients (β- thalassemias major and intermedia) with varying disease severity in two cities of the Suez Canal region. Ten different mutations were identified and the most frequent ones were: Isi-6 (T-C) (37.5%), IVSI-110 (G-A) (34.4%) and both IVSI-1 (G-A), IVSII-745 (C-G) and -102 (C-G) (12.5% each). There was a wide spectrum of phenotypic severity in all patients. We studied the Xmnl polymorphism (C/T) in γ- globin gene position -158 of P- thalassemia as a modulating factor of the disease severity. Presence of the polymorphism was found in two patients and this was not sufficient to explain the diversity of the phenotype encountered. Co-inheritance of alpha thalassaemia as a modulating factor was not evident in our patients. In conclusion, we have been unable to find a molecular basis for the benign clinical course in all our patients. Other genetic or acquired factors must be hypothesized which ameliorate the clinical condition.

  18. THE IMPACT OF IRON DEFICIENCY ON HBA2 LEVEL IN BETA THALASSEMIA MINOR IN SULAIMANI NORTHEASTERN IRAQ

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    Awaz Ahmed Kamal

    2015-11-01

    Full Text Available Background: HbA2 plays a key role in screening programs for beta thalassemia because a small increase in this fraction is the most important marker of beta thalassemia heterozygous carriers. The potential impact of coincident iron deficiency on HbA2 based identification of beta thalassemia minor is worrisome issue for screening laboratories, this is especially true for resource-constrained settings where iron deficiency is wide spread and molecular confirmatory tests for borderline HbA2 values may be unavailable. Objective: the aim of this study is to evaluate the effect of iron deficiency on HbA2 level in order to improve the detection of beta thalassemia trait with or without iron deficiency in our population. Materials and Method: In this study 145 individuals were enrolled including normal controls (50, beta thalassemia minor (50 and coincident beta thalassemia with iron deficiency cases (45. Complete blood count, serum iron, total iron binding capacity and HbA2 with HbF estimation were done for every individual. Result: The mean HbA2 level was (2.4± 0.4 in control, (5.2 ± 0.9 in beta thalassemia minor and 5.1± 0.9 in coincident iron deficiency with beta thalassemia minors. All hematological parameters were significantly lower in beta thalassemia minor and coincident iron deficiency with beta thalassemia minor in comparison to the control group .Mean HbA2 level did not show a significant difference in thalassemia minor (5.2±0.9 when compared with the mean HbA2 levels in coincidentiron deficiency with beta thalassemia minor. Conclusion: The presence of iron deficiency did not preclude the detection of beta thalassemia minor in our population

  19. [Hemoglobin C -- beta-thalassemia disease and homozygous beta-thalassemia in a black African family (author's transl)].

    Science.gov (United States)

    Basset, P; Fall, M; Oudart, J L

    1975-01-01

    The study of a Malian family has allowed to prove existence of two types of beta-thalassemia genes: the beta0 gene which suppresses the synthesis of the beta chain into cis position and the beta+ gene which slows down only partially this synthesis. The difference between this two genes has been possible owing to the hemoglobin C found in this family and induced by the betaC mutated gene. The segregation of the four genes betaA, betaC, beta0 thal, and beta+ thal. has allowed to compare all the possible phenotypes deriving from the combinations by two of these allelic genes. PMID:128735

  20. Genetic determinants of β-thalassemia intermedia in Pakistan.

    Science.gov (United States)

    Khan, Jabbar; Ahmad, Nafees; Siraj, Sami; Hoti, Naseruddin

    2015-01-01

    This study covers the molecular characterization of clinically diagnosed β-thalassemia intermedia (β-TI) patients in Pakistan. Blood samples of β-TI patients were collected from all four provinces of Pakistan throughout the period of 2011-2013. The study was carried out using allele-specific primers through polymerase chain reaction or sequencing to determine both α- and β-thalassemia (α- and β-thal) mutations, and restriction enzymes for the characterization of β-globin gene arrangements. In a total of 63 patients, the IVS-I-5 (G > C) was the most frequent mutation (33.88%). The codon 30 (G > A) and IVS-II-1 (T > C) mutations were found only in the Punjabi ethnic group, while the codon 30 (G > C) and Hb S (HBB: c.20A > T) mutations were found only in the Pashtoon and Sindhi ethnic groups, respectively. In case of α-globin genotypes, 44 patients were normal (αα/αα), six patients carried the αα/-α(3.7) genotype, 12 patients carried the -α(3.7)/-α(3.7) genotype, while one patient had the αα/ααα(anti 3.7) genotype. We found that haplotype I was the most frequent, mostly associated with the codons 8/9 (+G) mutation, while the Saudi haplotype was found only with Hb S. PMID:25707679

  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. Deferasirox in Indian children with thalassemia major: 3 years experience

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    Mayank Dhamija

    2013-01-01

    Full Text Available Objective: To evaluate the efficacy and safety of the oral iron chelator deferasirox in treating transfusional hemosiderosis in a cohort of Indian children with thalassemia major with high iron load. Materials and Methods: The first 50 children (age 2-18 yrs with thalassemia major to commence deferasirox at our center were enrolled and followed up for a period of 36 months between April 2008 and March 2011. The dose of deferasirox was determined by their baseline serum ferritin and was adjusted to a maximum of 40 mg/kg/day depending on response. Ferritin levels, SGOT, SGPT, serum creatinine and urine albumin were regularly monitored. Results: Of the 50 patients, 76% documented a significant decline in serum ferritin ( P<0.05. Seven (14% patients had a stable ferritin whilst 5 patients (10% documented an increase over the study period. The mean serum ferritin at baseline, 12, 24 and 36 months was 4354, 3260, 3290 and 3042, respectively ( P<0.05. The median serum ferritin at the same time points was 3555, 2810, 2079 and 2271, respectively ( P<0.05. No severe toxicity was seen. Conclusions: Deferasirox, when given in doses ≥30 mg/kg, was found to be an effective and safe drug in reducing transfusional hemosiderosis. Thirty five (70% needed dose escalation upto 40 mg/kg/day. Fifteen (30%, however did not achieve a negative iron balance despite maximally permissible doses.

  3. 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.

  4. molecular analysis of intron-1 mutation in β-Globin gene of β-Thalassemia

    International Nuclear Information System (INIS)

    β-thalassemia is considered the most common genetic disorder worldwide, it occurs in a particularly high frequency in abroad belt extending from the mediterranean basin through the middle east, and abundance in egypt. the thalassemias are a group of genetic (inherited) blood disorders that share in common one feature, the defective production of hemoglobin. there are many different disorders with defective hemoglobin synthesis and, hence, many types of thalassemia. about 3% of the world's population (180 million people) carry β-thalassemia genes.the present study was carried out in the biological application department of nuclear research center, atomic energy authority and microbiology department and hematology unit of pediatrics department, faculty of medicine, Zagazig University

  5. A newborn with diabetic ketoacidosis and thalassemia major: A rare case

    Directory of Open Access Journals (Sweden)

    Ünal Uluca

    2012-03-01

    Full Text Available Diabetic ketoacidosis is a systemic situation caused byabsolute insulin deficiency and characterized by hyperglycemia,ketonemia, acidemia, glycosuria and ketonuria.Thalassemia Major is a very serious hereditary blooddisorder due to low levels or absence of “beta globulin”chain, characterized by requiring a blood transfusion from3-4. month of life due to the relatively short life of red cells.We, herein presented a rare case of 20 day-old newbornwith anemia, hyperglycemia, vomiting, acidosis being diagnosedas thalassemia major that required blood transfusionin the early period of life and diabetic ketoacidosiswithout ketonuria who born from 24 year old father carrierof thalassemia and 23-year-old mother with carrier of thalassemiaand gestational diabetes.The case was presented in order to emphasize that diabeticketoacidosis can occur in newborns without ketonuriaand thalassemia major may cause anemia in the earlyperiod of life due to hyperglycemia and acidosis.

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

    Science.gov (United States)

    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. PMID:27324981

  7. The Comparison of Serum Vitamin D Level in Patients with Iron Deficiency Anemia and Minor Thalassemia

    OpenAIRE

    Royani, S. (MSc); Alijanpor, S. (BSc); Shirbaghaei, Z. (BSc); Khorasaninejad, R. (BSc); Roshandel, GH. (MSc); Ayatollahi, AA. (MD); Joshaghani, HR. (PhD)

    2013-01-01

    Background and Objective: Of the most common hypochromic microcytic anemia are iron deficiency anemia and minor thalassemia, which are common in Iran and their differential diagnosis is extremely important. The level of 25-hydroxy vitamin D is the indication of vitamin D blood status. The aim of this study was to compare serum levels of vitamin D in people with minor thalassemia and iron deficiency anemia with healthy subjects in order to investigate the relationship between vitamin D deficie...

  8. Association between serum ferritin level and diastolic cardiac function in patients with major β-thalassemia

    OpenAIRE

    Eghbali, A.; Taherahmadi, H; B. Bagheri; Nikanjam, S; L Ebrahimi

    2015-01-01

    Background Prevention of myocardial siderosis is a key step to reduce rate of mortality in thalassemic patients. Our objective was to study association between echocardiography parameters and serum ferritin level in patients with major thalassemia. Materials and Methods Sixty-six patients with major thalassemia were studied in Amir Kabir hospital, Arak, Iran. Serum ferritin levels were measured during 3 months in patients with no symptoms of infection. It was measured by enzyme-linked immunos...

  9. Iron and Ferritin Levels in Saliva of Patients with Thalassemia and Iron Deficiency Anemia

    OpenAIRE

    Canatan, Duran; Akdeniz, Sevgi Kosaci

    2012-01-01

    Most of the techniques for measuring iron stores such as serum iron concentration, iron binding capacity, serum ferritin level, liver biopsy can be troublesome or invasive for patients with thalassemia. The salivary iron measurement could be of potential advantage being an easy and non invasive approach for diagnosis of iron deficiency and iron overload . The aim of this study was to compare the levels of iron and ferritin in saliva and serum of patients affected by thalassemia or iron defici...

  10. Pyogenic liver abscess in beta-thalassemia major--report of two cases.

    Science.gov (United States)

    Hwang, C F; Lee, C Y; Lee, P I; Chen, J M; Lli, K H; Lin, D T; Chang, M H

    1994-01-01

    Pyogenic liver abscess, which may lead to devastating consequences, is an uncommon medical problem in pediatrics and has generally been reported in compromised hosts. This article describes two patients with beta-thalassemia major and hemochromatosis complicated by Klebsiella pneumoniae liver abscess. One of the patients had severe complications, including subphrenic abscess, pleural effusion and meningitis. To present knowledge, the occurrence of K. pneumoniae liver abscess in patients with beta-thalassemia major has never before been reported in the literature.

  11. Subclinical renal abnormalities in young thalassemia major and intermedia patients and its relation to chelation therapy

    OpenAIRE

    Adly, Amira A.M.; Dalia N. Toaima; Noha Refaat Mohamed; Karim Mahmoud Abu El Seoud

    2014-01-01

    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 tubular dysfunctions in children and adolescents with β-thalassemia major and intermedia, and to correlate these findings with the degree of iron overload and type of chela...

  12. Molecular Characterization of β-Thalassemia in Nineveh Province Illustrates the Relative Heterogeneity of Mutation Distributions in Northern Iraq

    OpenAIRE

    Adil A Eissa; Kashmoola, Muna A.; Atroshi, Sulav D.; Al-Allawi, Nasir A. S.

    2014-01-01

    Beta thalassemia is an important health problem in Nineveh province, a large province in Northwestern Iraq. No previous study of significance had focused on the spectrum of β-thalassemia mutations in this part of the country. A total of 94 unrelated β-thalassemia minor subjects from the latter province were recruited. Their carrier status was confirmed by full blood count, Hb A2 and F estimation. Thereafter their DNA was subjected to multiplex polymerase chain reaction and reverse hybridizati...

  13. Respiratory burst enzymes, pro-oxidants and antioxidants status in Bangladeshi population with β-thalassemia major

    OpenAIRE

    Md. Faruk Hossain; Md. Ismail; Arifur Rahman Tanu; Hossain Uddin Shekhar

    2015-01-01

    Background: Oxidative stress is intimately associated with many diseases, including β-thalassemia. Aim: The study was to estimate the status of respiratory burst enzymes, pro-oxidants, and antioxidants in β-thalassemia major patients in Bangladesh and to compare with apparently healthy individuals. Materials and Methods: A total of 49 subjects were recruited which included 25 patients (age range 5 to 40 years) with β-thalassemia major and 24 controls (age and sex matched). Superoxide dismutas...

  14. Hematopoietic Stem Cell Transplantation in Thalassemia and Sickle Cell Disease. Unicenter Experience in a Multi-Ethnic Population.

    OpenAIRE

    Marziali, Marco; Isgrò, Antonella; Gaziev, Javid; Lucarelli, Guido

    2009-01-01

    Hematopoietic stem cell transplantation (HSCT) still remains the only definitive cure currently available for patients with thalassemia and sickle cell anemia. Results of transplant in thalassemia and in sickle cell anemia have steadily improved over the last two decades due to improvements in preventive strategies, and effective control of transplant-related complications. From 2004 through 2009, 145 consecutive patients with thalassemia and sickle cell anemia, ethnically heterogeneous from ...

  15. Coefficient Alpha

    OpenAIRE

    Panayiotis Panayides

    2013-01-01

    Heavy reliance on Cronbach’s alpha has been standard practice in many validation studies. However, there seem to be two misconceptions about the interpretation of alpha. First, alpha is mistakenly considered as an indication of unidimensionality and second, that the higher the value of alpha the better. The aim of this study is to clarify these misconceptions with the use of real data from the educational setting. Results showed that high alpha values can be obtained in multidimensional scale...

  16. Frequency of thalassemia carrier and Hb variant and the quality of stored donor blood

    Directory of Open Access Journals (Sweden)

    Eva A. Maharani

    2015-01-01

    Full Text Available Background: This study was aimed to determine the frequency of thalassemia and Hb variant in blood donor. In addition, we also wanted to know the quality of blood from the donor up to seven days of storage, by calculating percentage of hemolysis in vitro.Methods: This cross-sectional study was conducted on 138 blood donor specimens at Red Cross Blood Centre Unit in Jakarta. All specimens were tested for thalassemia and Hb variant by complete blood count (CBC and Hb analysis with HPLC method and DNA analysis for the detection of α thalassemia carrier. To analyze the quality of stored blood, the calculation of hemolytic rate of red blood cells (RBCs on whole blood (WB was compared between the first and seventh days of storage.Results: Out of the 138 specimens, 5 samples (3.6% were diagnosed for α thalassemia carrier in which, one of them is co-inherited with ovalositosis hereditary (Southeast Asian Ovalositosis/SAO, 3 samples (2.2% for β thalassemia carrier, and 3 samples (2.2% for Hb E. Meanwhile, the hemolytic rates of RBCs on WB in first day and seven day of storage were below one percent.Conclusion: The frequency of thalassemia carrier and Hb variants in blood donors at Red Cross Blood Centre Unit in Jakarta was 8%. The quality of stored blood until seven day of storage was quite good.

  17. Thalassemia major and intermedia in jammu and kashmir, India: a regional transfusion centre experience.

    Science.gov (United States)

    Vasudev, Rahul; Sawhney, Vijay

    2014-12-01

    Data on status of thalassemia and hemoglobinopathies from the extreme northern part of India is scarce. We investigated socio-demographic characteristics and management issues related to β-thalassemia in Jammu and Kashmir, India. Data from 96 thalassemia major and intermedia patients visiting the department of transfusion medicine for their transfusion needs was collected. Parameters recorded included age group, age at diagnosis, gender, religion, districts of the state they belonged to, family history of thalassemia, blood group, type of thalassemia (major/intermedia), total number of transfusions received and chelation therapy status. Thalassemia major patients comprised 92 (95.8 %) and intermedia 4 (4.2 %) of the cohort. Most cases were diagnosed in infancy or early childhood. The districts of Jammu and Rajouri together contributed 53 % of the cases. Most patients were Hindu (76/96, 79.2 %). A positive family history was most often obtained from Muslim patients (8/18, 44.4 %). Only 50 % cases were on iron chelation therapy. There is a need to come up with a national/local policy to manage disease in endemic areas and a policy formulated to help families and patients. Data such as ours may help in health management planning for thalassemic patients in this region.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  19. Frequency of Sensory Neural Hearing Loss in Major Beta-Thalassemias in Southern Iran

    Directory of Open Access Journals (Sweden)

    Seyed-Taghi Heydari

    2010-09-01

    Full Text Available Objective:The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean region. The aim of this study was to determined frequency of sensory-neural hearing loss in major ß- thalassemias transfusion dependent patients in south of Iran. Methods:A cross sectional study on 308 cases of major beta-thalassemia patients referring to Thalassemia Center of Shiraz University of Medical Sciences between 2006-2007 years. The diagnosis of ß- thalassemia major was based on clinical history, complete blood count and hemoglobine electrophoresis. Clinical data such as serum ferritin level, deferoxamine (DFO dose, mean daily doses of DFO (mg/kg and audiometric variables was recorded. Findings:Out of 308 cases, 283 (96.5% had normal hearing and 10 (3.5% sensorineural hearing loss. There was no statically significant difference between two groups regarding mean age, weight, age at the first blood transfusion, age at the first DFO infusion. Conclusion:We found the lowest incidence of sensorineural hearing loss in a large population of patients suffered from major thalassemia who received DFO. We show that DFO is not ototoxic at a low dose. When considering all related literature, as a whole there has been much critical misrepresentation about DFO ototoxicity.

  20. Frequency of Sensory Neural Hearing Loss in Major Beta-Thalassemias in Southern Iran

    Science.gov (United States)

    Faramarzi, Abolhassan; Karimi, Mehran; Heydari, Seyed-Taghi; Shishegar, Mahmoud; Kaviani, Masoud

    2010-01-01

    Objective The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean region. The aim of this study was to determined frequency of sensory-neural hearing loss in major ß- thalassemias transfusion dependent patients in south of Iran. Methods A cross sectional study on 308 cases of major beta-thalassemia patients referring to Thalassemia Center of Shiraz University of Medical Sciences between 2006–2007 years. The diagnosis of ß- thalassemia major was based on clinical history, complete blood count and hemoglobine electrophoresis. Clinical data such as serum ferritin level, deferoxamine (DFO) dose, mean daily doses of DFO (mg/kg) and audiometric variables was recorded. Findings Out of 308 cases, 283 (96.5%) had normal hearing and 10 (3.5%) sensorineural hearing loss. There was no statically significant difference between two groups regarding mean age, weight, age at the first blood transfusion, age at the first DFO infusion. Conclusion We found the lowest incidence of sensorineural hearing loss in a large population of patients suffered from major thalassemia who received DFO. We show that DFO is not ototoxic at a low dose. When considering all related literature, as a whole there has been much critical misrepresentation about DFO ototoxicity. PMID:23056722

  1. Carrier Screening and Prenatal Gene Diagnosis of β-thalassemia by PCR-RDB Technique

    Institute of Scientific and Technical Information of China (English)

    张宏秀; 单可人; 惠春林; 何燕; 袁筑华; 窦友莲; 曾金琳; 谢渊; 修瑾

    2003-01-01

    In order to identify the distribution of gene types of β-thalassemia and reduce the birthrates of β-thalassemia major in Guiyang area, 1054 pregnant women and their spouses from Affiliated Hospital, Guiyang Medical College were screened. The positive samples were analyzed with polymerase chain reaction and reverse dot blot method (PCR-RDB). When both partners were heterozygous identified as carriers for β- thalassemia, the risk of having a fetus who was homozygous or compound heterozygous was 2.66 %; the ratio of male to female was 1/1.15. Seven types of mutation were identified. CD17 and CD41-42 were dominant among them. Among the 4 cases subject to prenatal gene diagnosis, one fetus was completely normal and 3 fetuses were diagnosed as having β-thalassemia major (1 homozygous and 2 compound heterozygous). The fetuses diagnosed as β-thalassemia major were selectively terminated within two weeks. It was concluded that the birthrate of β-thalassemia major in Guiyang area was reduced and the target of improving birth outcome and child development has been achieved.

  2. Etiopathological mechanisms and clinical characteristics of hyperhemolysis syndrome in Spanish patients with thalassemia.

    Science.gov (United States)

    Vagace, Jose Manuel; Cardesa, Rocío; Corbacho, Antonio; Vázquez, Teresa; de la Maya, Maria Dolores; Gonzalez, Fernando Ataulfo; Nieto, José Bartolomé; Urrutia, Emilia; Gómez, María Jesus; Pascual, Teresa; Aguinaco, Maria Reyes; Gervasini, Guillermo

    2016-09-01

    Hyperhemolysis syndrome (HHS) is characterized by severe intravascular hemolysis with a decrease in the reticulocyte count, which is triggered and aggravated by transfusion and cannot be explained by standard immunohematological studies. A nationwide study was conducted in order to retrospectively identify thalassemia patients with HHS in Spain in order to assess pre-disposing mechanisms for this syndrome. For this, the expression of adhesion (CD49, CD36) and complement-related molecules (C3a, CD59) and the levels of reticulocyte apoptosis and macrophage activation were measured in 4 thalassemia patients with HHS, 14 patients without HHS, and 10 healthy subjects. Five of the six thalassemia patients had δβ-thalassemia. The patients were not alloimmunized prior to the syndrome, which was developed after the first transfusion in all but one case. Patients with δβ-thalassemia did not respond to corticoids or immunoglobulins; only splenectomy was successful. The expression of CD49 (α4β1 integrin) was far higher in patients who had experienced HHS (85.07 ± 18.46 vs. 46.28 ± 24.31; p < 0.01), and the difference remained significant after correcting by the number of molecules analyzed (Bonferroni p < 0.05). In our population, δβ-thalassemia was the most common hemoglobinopathy in patients with HHS. Furthermore, the risk to develop this syndrome may be associated with an increased expression of α4β1 integrin. PMID:27392662

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

    International Nuclear Information System (INIS)

    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.

  4. Prevalence of β(S)-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil.

    Science.gov (United States)

    Shimauti, Eliana LitsukoTomimatsu; Silva, Danilo Grunig Humberto; de Souza, Eniuce Menezes; de Almeida, Eduardo Alves; Leal, Francismar Prestes; Bonini-Domingos, Claudia Regina

    2015-01-01

    The aim of this study was to determine the frequency of beta S-globin gene (β(S) globin) haplotypes and alpha thalassemia with 3.7 kb deletion (-α(3.7kb) thalassemia) in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of β(S) globin carriers in this population. Of the 77 samples analyzed, 17 were Hb SS, 30 were Hb AS and 30 were Hb AA. The β(S)globin haplotypes and -α(3.7kb) thalassemia were identified using polymerase chain reaction.Trolox equivalent antioxidant capacity (TEAC) and lipid peroxidation (LPO) were assessed spectophotometrically. Serum melatonin levels were determined using high-performance liquid chromatography coupled to coulometric electrochemical detection. The haplotype frequencies in the SS individuals were as follows: Bantu- 21 (62%), Benin - 11 (32%) and Atypical- 2 (6%). Bantu/Benin was the most frequent genotype. Of the 47 SS and AS individuals assessed, 17% (n = 8) had the -α(3.7kb) mutation. Clinical manifestations, as well as serum melatonin, TEAC and LPO levels did not differ between Bantu/Bantu and Bantu/Benin individuals (p > 0.05). Both genotypes were associated with high LPO and TEAC levels and decreased melatonin concentration. These data suggest that the level of oxidative stress in patients with Bantu/Bantu and Bantu/Benin genotypes may overload the antioxidant capacity. PMID:26500435

  5. Prevalence of βS-globin gene haplotypes, α-thalassemia (3.7 kb deletion and redox status in patients with sickle cell anemia in the state of Paraná, Brazil

    Directory of Open Access Journals (Sweden)

    Eliana LitsukoTomimatsu Shimauti

    2015-09-01

    Full Text Available The aim of this study was to determine the frequency of beta S-globin gene (βS globin haplotypes and alpha thalassemia with 3.7 kb deletion (−α3.7kb thalassemia in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of βS globin carriers in this population. Of the 77 samples analyzed, 17 were Hb SS, 30 were Hb AS and 30 were Hb AA. The βSglobin haplotypes and −α3.7kb thalassemia were identified using polymerase chain reaction.Trolox equivalent antioxidant capacity (TEAC and lipid peroxidation (LPO were assessed spectophotometrically. Serum melatonin levels were determined using high-performance liquid chromatography coupled to coulometric electrochemical detection. The haplotype frequencies in the SS individuals were as follows: Bantu- 21 (62%, Benin - 11 (32% and Atypical- 2 (6%. Bantu/Benin was the most frequent genotype. Of the 47 SS and AS individuals assessed, 17% (n = 8 had the −α3.7kb mutation. Clinical manifestations, as well as serum melatonin, TEAC and LPO levels did not differ between Bantu/Bantu and Bantu/Benin individuals (p > 0.05. Both genotypes were associated with high LPO and TEAC levels and decreased melatonin concentration. These data suggest that the level of oxidative stress in patients with Bantu/Bantu and Bantu/Benin genotypes may overload the antioxidant capacity.

  6. Performance of blasting caps

    Science.gov (United States)

    Bement, Laurence J. (Inventor); Schimmel, Morry L. (Inventor); Perry, Ronnie B. (Inventor)

    1993-01-01

    Common blasting caps are made from an aluminum shell in the form of a tube which is closed at both ends. One end, which is called the output end, terminates in a principal side or face, and contains a detonating agent which communicates with a means for igniting the detonating agent. The improvement of the present invention is a flat, steel foil bonded to the face in a position which is aligned perpendicularly to the longitudinal axis of the tube.

  7. Capping the Mortgage Interest Deduction

    OpenAIRE

    Anderson, John E.; Clemens, Jeffrey; Hanson, Andrew

    2007-01-01

    In this paper we examine the economic implications of several policy options for capping the mortgage interest deduction (MID). We extend the standard user–cost model of owner–occupied housing to include a cap on the mortgage size receiving tax–favored status. Our user–cost estimates for taxpayers with mortgages above the current–law cap are 4.41 percent higher than estimates from a model without the cap. We simulate the share of mortgage dollars that would be subject to three alternative cap...

  8. Saltstone Clean Cap Formulation

    Energy Technology Data Exchange (ETDEWEB)

    Langton, C

    2005-04-22

    The current operation strategy for using Saltstone Vault 4 to receive 0.2 Ci/gallon salt solution waste involves pouring a clean grout layer over the radioactive grout prior to initiating pour into another cell. This will minimize the radiating surface area and reduce the dose rate at the vault and surrounding area. The Clean Cap will be used to shield about four feet of Saltstone poured into a Z-Area vault cell prior to moving to another cell. The minimum thickness of the Clean Cap layer will be determined by the cesium concentration and resulting dose levels and it is expected to be about one foot thick based on current calculations for 0.1 Ci Saltstone that is produced in the Saltstone process by stabilization of 0.2 Ci salt solution. This report documents experiments performed to identify a formulation for the Clean Cap. Thermal transient calculations, adiabatic temperature rise measurements, pour height, time between pour calculations and shielding calculations were beyond the scope and time limitations of this study. However, data required for shielding calculations (composition and specific gravity) are provided for shielding calculations. The approach used to design a Clean Cap formulation was to produce a slurry from the reference premix (10/45/45 weight percent cement/slag/fly ash) and domestic water that resembled as closely as possible the properties of the Saltstone slurry. In addition, options were investigated that may offer advantages such as less bleed water and less heat generation. The options with less bleed water required addition of dispersants. The options with lower heat contained more fly ash and less slag. A mix containing 10/45/45 weight percent cement/slag/fly ash with a water to premix ratio of 0.60 is recommended for the Clean Cap. Although this mix may generate more than 3 volume percent standing water (bleed water), it has rheological, mixing and flow properties that are similar to previously processed Saltstone. The recommended

  9. Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies.

    Science.gov (United States)

    Fucharoen, S; Winichagoon, P; Thonglairoam, V; Siriboon, W; Siritanaratkul, N; Kanokpongsakdi, S; Vantanasiri, C

    1991-03-01

    In this review, we describe a simple strategy to detect the three severe thalassemic diseases commonly found in Thailand. Hb Bart's hydrops fetalis can be detected unambiguously by ultrasonography at 18-20 weeks of gestation or detected early in the first trimester by the gene amplification technique. Prenatal diagnosis for homozygous beta-thalassemia is better performed in the second trimester by in vitro protein synthesis. This is because the molecular defects of some beta-thalassemias are still unknown and homozygosity of the same mutation is low. In contrast, beta-thalassemia/Hb E is easily detected, in the first trimester, by direct visualization on electrophoresis or by dot blot analysis of enzymatically amplified DNA with a set of nonradioactively labeled oligonucleotide probes complementary to the most common mutations. We also found that the beta/gamma synthesis ratio in homozygous Hb E is similar to that of beta-thalassemia/Hb E and DNA analysis is the only method to distinguish these two conditions in the couple at risk of having either beta-thalassemia/Hb E or asymptomatic homozygous Hb E. In 100 pregnancies studied, the diagnoses were achieved in 96 pregnancies. Complications leading to fetal loss were found in 3 pregnancies: one woman developed amnionitis after fetal blood sampling; one had amniotic fluid leakage after the biopsy, and the third, carrying a normal fetus, aborted 10 days after fetal blood sampling with urinary tract infection and high fever. However, these figures are compatible with other reports and the risks are significantly lower than that of thalassemic disease the fetus is facing. One case of beta-thalassemia/Hb E was incorrectly diagnosed prenatally as being Hb E trait. In twenty-five pregnancies (25%) prenatally diagnosed to carry affected fetuses it was decided to have abortion. This study shows the feasibility of prenatal diagnosis for thalassemic diseases in Thailand which, in addition to screening and genetic counseling

  10. Evaluation of QT interval in β thalassemia major patients in comparison with control group

    Directory of Open Access Journals (Sweden)

    Behzad Farahani

    2012-01-01

    Full Text Available Background: Cardiac complications are the primary cause of death in patients with b thalassemia major. QTc interval is an indicator of variability of ventricular repolarization and is supposed to be prominent in high risk patients. The aim of this investigation was to evaluate the relationship between QTc interval in β thalassemia major in comparison with the control group. Patients and Methods: Sixty β thalassemia major and intermadia patients were enrolled in this analytical cross-sectional study. Thalassemia major and intermadia patients with no clinical symptoms of cardiac disease underwent echocardiographic and stress tests. QTc interval, blood pressure, heart rate, and average serum ferritin levels were measured. Statistical analysis was performed using version 15 SPSS. Results: Although there was no clinical or echocardiographic sign of cardiac disease and QTc intervals measured before the test were not significantly different between patients and control group (421.7 ± 29.6 vs. 412.4 ± 28.2, P = 0.06, we found that, during stress test, QTc intervals (452.7 ± 30.8 vs. 410.2 ± 26.2, P < 0.001 and heart rate (105 ± 15.1 vs. 89.7 ± 12.3, P < 0.001 were notably greater in β thalassemia major patients compared to the control group, respectively. Conclusion: We found augmented QTc intervals in this group of thalassemia major patients who have neither clinical nor electrocardiographic and gross echocardiographic signs of cardiac disease. QTc interval can be helpful in the cardiac assessment of thalassemia major patients.

  11. 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.

  12. Screening of β-thalassemia trait and other hemoglobinopathies among blood donors in Punjab

    Directory of Open Access Journals (Sweden)

    Rajesh Kumar

    2015-01-01

    Full Text Available Introduction: Hemoglobinopathies are common genetic disorders of hemoglobin, which can be prevented by population screening and offering genetic counseling. The cumulative gene frequency of hemoglobinopathies in India is 4.2%. The carrier state for β-thalassemia in India varies from 1% to 17% with an average of 3.2%. The present study was undertaken to find out the burden of hemoglobinopathies and spectrum of this disorders among the blood donors. Materials and Methods: The study includes 975 students between 18 and 25 years who donated blood, were screened for β-thalassemia trait and related hemoglobinopathies by high-performance liquid chromatography (HPLC using Bio-Rad variant. Samples were also run on a hemato analyzer for red cell indices and peripheral smear for red cell morphology. Results: A total of 41 donors showed abnormal hemoglobin fractions in HPLC. Out of these, 32 (3.3% were diagnosed with β-thalassemia trait, 8 (0.8% with Hb-D Punjab and 1 (0.1% with Hb-S trait. The frequency of β-thalassemia trait in the student from different geographical regions varied from 0.8% to 4.44%, being the highest in those from Punjab and frequency of β-thalassemia trait in different caste groups varied from 0 to 4.74%, being the highest in the student from Jatt Sikh community. Conclusions: A universal approach of screening for β-thalassemia trait should be included as a part of standard blood testing among the college students, premarital and of the extended family of thalassemics. Population group with high gene frequencies requires screening programs as well as increased awareness and education program to control the birth of thalassemia major.

  13. The proportion of hybrid heterodimers in homozygous or doubly heterozygous beta chain variant hemoglobinopathies associated with alpha chain hemoglobin variants.

    Science.gov (United States)

    Krauss, J S

    2000-10-01

    Four alpha genes exist on chromosome 16, but one or more of these genes can be deleted in association with Hemoglobin (Hb)G-Philadelphia in cis to alpha-thalassemia-2 in African-Americans. Therefore, the proportion of HbG-Philadelphia in HbG heterozygotes is trimodal at about 25% for alphaGalpha/alpha alpha, 33% for alphaG-/alpha alpha, and 50% for alphaG-/alpha alpha in patients with HbA. Those who are homozygous or doubly heterozygous for beta chain variants (betaX2 or betaXbetaY) have neither HbA nor the alpha chain variant (alphaX2 betaA2), but have hybrid heterodimers (alphaX2 betaX2). The proportion of hybrid heterodimers here should also be trimodal mirroring alpha gene status. Eleven patients were identified: 4 with Hb SSG, 3 with Hb SCG, and 1 each with Hb OCG, HbSSMontgomery, HbSSChicago, and HbSSBourmedes. Heterodimer proportions were: 43.3 +/- 1.5, 33.5 +/- 2.3, and 15.8 +/- 1.1% for 2, 3, and 4 respective alpha genes which had been studied in 8/11 of the patients (r = 0.98), implying that the prime determinant of the proportion of hybrid heterodimers in this patient group is the number of functional alpha genes. PMID:11045763

  14. Novel Multipin Electrode Cap System for Dry Electroencephalography.

    Science.gov (United States)

    Fiedler, P; Pedrosa, P; Griebel, S; Fonseca, C; Vaz, F; Supriyanto, E; Zanow, F; Haueisen, J

    2015-09-01

    Current usage of electroencephalography (EEG) is limited to laboratory environments. Self-application of a multichannel wet EEG caps is practically impossible, since the application of state-of-the-art wet EEG sensors requires trained laboratory staff. We propose a novel EEG cap system with multipin dry electrodes overcoming this problem. We describe the design of a novel 24-pin dry electrode made from polyurethane and coated with Ag/AgCl. A textile cap system holds 97 of these dry electrodes. An EEG study with 20 volunteers compares the 97-channel dry EEG cap with a conventional 128-channel wet EEG cap for resting state EEG, alpha activity, eye blink artifacts and checkerboard pattern reversal visual evoked potentials. All volunteers report a good cap fit and good wearing comfort. Average impedances are below 150 kΩ for 92 out of 97 dry electrodes, enabling recording with standard EEG amplifiers. No significant differences are observed between wet and dry power spectral densities for all EEG bands. No significant differences are observed between the wet and dry global field power time courses of visual evoked potentials. The 2D interpolated topographic maps show significant differences of 3.52 and 0.44% of the map areas for the N75 and N145 VEP components, respectively. For the P100 component, no significant differences are observed. Dry multipin electrodes integrated in a textile EEG cap overcome the principle limitations of wet electrodes, allow rapid application of EEG multichannel caps by non-trained persons, and thus enable new fields of application for multichannel EEG acquisition.

  15. Investigation of molecular heterogeneity of β-thalassemia disorder in District Charsadda of Pakistan

    Science.gov (United States)

    Shakeel, Muhammad; Arif, Muhammad; Rehman, Shoaib Ur; Yaseen, Tabassum

    2016-01-01

    Objective: Thalassemia is blood related disease which arises from the reduced level of hemoglobin in red blood cells (RBC), a protein responsible for carrying oxygen inside the body. Considering its widespread occurrence in developing countries like Pakistan, this study aims to investigate the common molecular anomalies of the beta thalassemia disease in district Charsadda, Khyber Pakhtunkhwa. Methods: This work was done at Abdul Wali Khan University (AWKU) Mardan, Khyber Pakhtunkhwa, Pakistan. The work was performed on the blood samples collected from the patients and their families with beta thalassemia major (n = 13 families) belonged to District Charsadda. The collected blood samples were analyzed for presence of six known mutations with the help of polymerase cha in reaction technique i.e. amplification of refractory mutation system. Results: Our Study reports six known mutations (IVS-1-5, FSC 8/9, CD 41/42, IVS-1-1, CD 15 and FSC-5) accounting for about 90% of total beta thalassemia genes in this country. Among the reported mutations, IVS 1-5 was the most prevalent beta thalassemia gene in patients belonging to District Charsadda. Conclusion: The results and findings of the current study may help in accessing the frequency of these common mutations and in initiating pre-natal diagnosis programme in Pakistan. PMID:27182268

  16. Minihepcidin peptides as disease modifiers in mice affected by β-thalassemia and polycythemia vera.

    Science.gov (United States)

    Casu, Carla; Oikonomidou, Paraskevi Rea; Chen, Huiyong; Nandi, Vijay; Ginzburg, Yelena; Prasad, Princy; Fleming, Robert E; Shah, Yatrik M; Valore, Erika V; Nemeth, Elizabeta; Ganz, Tomas; MacDonald, Brian; Rivella, Stefano

    2016-07-14

    In β-thalassemia and polycythemia vera (PV), disordered erythropoiesis triggers severe pathophysiological manifestations. β-Thalassemia is characterized by ineffective erythropoiesis, reduced production of erythrocytes, anemia, and iron overload and PV by erythrocytosis and thrombosis. Minihepcidins are hepcidin agonists that have been previously shown to prevent iron overload in murine models of hemochromatosis and induce iron-restricted erythropoiesis at higher doses. Here, we show that in young Hbb(th3/+) mice, which serve as a model of untransfused β-thalassemia, minihepcidin ameliorates ineffective erythropoiesis, anemia, and iron overload. In older mice with untransfused β-thalassemia, minihepcidin improves erythropoiesis and does not alter the beneficial effect of the iron chelator deferiprone on iron overload. In PV mice that express the orthologous JAK2 mutation causing human PV, administration of minihepcidin significantly reduces splenomegaly and normalizes hematocrit levels. These studies indicate that drug-like minihepcidins have a potential as future therapeutics for untransfused β-thalassemia and PV. PMID:27154187

  17. Rare association between two genetic conditions: turner syndrome and beta thalassemia minor

    Directory of Open Access Journals (Sweden)

    Dorina STOICANESCU

    2009-11-01

    Full Text Available Rare disorders are defined as diseases, including those of genetic origin, which are life-threatening or chronically debilitating, which are of such low prevalence that special combined efforts are needed to address them. We present a case with a rare association between two genetic conditions: Turner phenotype and beta thalassemia minor. Turner syndrome is a chromosomal disorder that is characterized by the absence of all or part of a second sex chromosome in some or all cells. This condition occurs in 1 in 2,500 to 3,000 girls. The physical features include webbing of the neck, short stature, delayed growth of the skeleton, broad chest, cardivascular abnormalities and gonadal dysgenesis. Women with this disorder are usually infertile due to ovarian failure. The clinical diagnosis was confirmed by the cytogenetic and by FISH analysis, which revealed the presence of only one X chromosome. Treatment may include human growth hormone and estrogen replacement therapy. On the other hand, thalassemias are genetic conditions that result from imbalance in the normal coordinated synthesis of the globin subunits that make up the hemoglobin tetramer, leading to decreased and defective production of hemoglobin. Beta thalassemia syndromes are hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. Beta thalassemia is inherited in an autosomal recessive manner. Thalassemia minor usually presents as an asymptomatic mild microcytic anemia, but our case also had splenomegaly and required splenectomy.

  18. Fourteen-year experience of prenatal diagnosis of thalassemia in Iran.

    Science.gov (United States)

    Najmabadi, Hossein; Ghamari, Alireza; Sahebjam, Farhad; Kariminejad, Roxana; Hadavi, Valeh; Khatibi, Talayeh; Samavat, Ashraf; Mehdipour, Elaheh; Modell, Bernadette; Kariminejad, Mohammand Hassan

    2006-01-01

    For 14 years, Iranian scientists have worked to develop a national thalassemia prevention program. Although historically abortion was considered unacceptable in Iran, intensive consultations led to the clerical approval of induced abortion in cases with beta-thalassemia major in 1997, and a nationwide prevention program with screening, counseling and prenatal diagnosis (PND) networks has been developed. This paper reports the experience from one of the two national PND reference laboratories. As one of the oldest reference laboratories, we performed a total of 906 PND in 360 couples at risk for thalassemia from 1990 to 2003. Direct and indirect mutation detection methods were applied for all cases. In total, 22 mutations were tested routinely, and an additional 30 rare mutations were identified. 208 fetuses were found to be normal, 215 fetuses had beta-thalassemia major, and 435 fetuses were carriers of the trait. In 40 cases, we only defined one allele. In 8 cases, we were unable to provide any diagnosis, corresponding to 0.9%. Our data support the functionality of the Iranian beta-thalassemia prevention program. The success of this system in Iran, a multiethnic and Islamic-based country, would mean that it might be applied as an adaptive system for neighboring and other Islamic countries. PMID:16612059

  19. Oxidative stress and age-related changes in T cells: is thalassemia a model of accelerated immune system aging?

    Science.gov (United States)

    Ghatreh-Samani, Mahdi; Esmaeili, Nafiseh; Soleimani, Masoud; Asadi-Samani, Majid; Ghatreh-Samani, Keihan; Shirzad, Hedayatolah

    2016-01-01

    Iron overload in β-thalassemia major occurs mainly due to blood transfusion, an essential treatment for β-thalassemia major patients, which results in oxidative stress. It has been thought that oxidative stress causes elevation of immune system senescent cells. Under this condition, cells normally enhance in aging, which is referred to as premature immunosenescence. Because there is no animal model for immunosenescence, most knowledge on the immunosenescence pattern is based on induction of immunosenescence. In this review, we describe iron overload and oxidative stress in β-thalassemia major patients and how they make these patients a suitable human model for immunosenescence. We also consider oxidative stress in some kinds of chronic virus infections, which induce changes in the immune system similar to β-thalassemia major. In conclusion, a therapeutic approach used to improve the immune system in such chronic virus diseases, may change the immunosenescence state and make life conditions better for β-thalassemia major patients.

  20. ATLAS end-cap detector

    CERN Multimedia

    Maximilien Brice

    2003-01-01

    Three scientists from the Institute of Nuclear Phyiscs at Novossibirsk with one of the end-caps of the ATLAS detector. The end-caps will be used to detect particles produced in the proton-proton collisions at the heart of the ATLAS experiment that are travelling close to the axis of the two beams.

  1. A Cross Sectional Study Of Thalassemia In Ahmedabad City, Gujarat. (Hospital based

    Directory of Open Access Journals (Sweden)

    Shrenik Talsania

    2011-01-01

    Full Text Available Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia (a hemoglobinopathy is a qualitative problem of synthesis of an incorrectly functioning globin. The present study was undertaken with objective to study the occurrence and socio-demographic profile of thalassemia cases. There were 223 patients (55 from Municipal Corporation Hospitals & 168 from New civil hospital, Ahmedabad admitted in the hospitals during January 2006 to March 2009.Majority of patients were males, from 1-5 year age group and from Hindu community. Majority of patients from corporation hospitals had more frequency of blood transfusion compared to government hospital. Thalassemia major cases were higher compared to minor.

  2. Coincidence of Niemann-Pick Disease and Beta-Thalassemia; a Case Report

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    Mina Izadyar

    2010-12-01

    Full Text Available Background: Niemann-Pick disease and β-thalassemia are distinct conditions with specific clinical and morphological manifestations. β-thalassemia is the most common inherited blood disorder in Iran whereas Niemann-Pick disease, a lysosomal storage disorder, is rarely found in this country.Case Presentation: This 5-month old girl, a known case of β-thalassemia major was hospitalized for failure to thrive and hepathosplenomegaly. Because of unusual splenomegaly and liver enzymes disturbance that was not compatible with the first diagnosis, further evaluation revealed cherry red spot and high lipid profile suggestive of lysosomal storage disease. Foamy cells in the bone marrow and low activity of the specific enzyme led to the diagnosis of Niemann-Pick disease.Conclusion: This unique case illustrates the importance of looking for a second pathological condition in a patient whose clinical profile does not support the first diagnosis in its entirety.

  3. Levels of Beta-2 Microglobulin and Cystatin C in Beta Thalassemia Major Patients

    Directory of Open Access Journals (Sweden)

    Ayse Kacar

    2014-03-01

    Full Text Available Aim: Thalassemia is accepted to be the most common genetic disease in the world. This study was performed to establish whether there was a glomerular renal damage, which was usually a less mentioned subject in patients with Beta Thalassemia Major, and to compare urea, creatinine and creatinine clearance with early indicators of kidney damage as Cystatin-C and %u03B2-2 microglobulin as on determining the glomerular damage. Material and Method: This study was prospectively performed in patients, who were regularly followed in the children hematology outpatient clinic with a diagnosis of Beta Thalassemia Major. Results: There was no statistically significant difference between urea and levels of creatinine clearance and Cystatin-C. There was a statistically negative relationship between creatinine and creatinine clearance at an advanced level as 53.7% (p: 0.002, p

  4. The organization of the gamma-delta-beta gene complex in normal and thalassemia cells.

    Science.gov (United States)

    Bank, A; Mears, J G; Ramirez, F; Burns, A L; Spence, S; Feldenzer, J; Baird, M

    1980-01-01

    Restriction enzyme digestion analysis and direct human globin gene cloning have permitted analysis of the physical arrangement of nucleotide sequences within and surrounding the human globin genes. With these methods it has been shown that the linear arrangement 5' to 3' of the globin genes is G gamma-A gamma-delta-beta. The G gamma and A gamma genes are separated by about 3.5 kilobases (kb), while the A gamma and delta genes are 15 kb apart, and the delta and beta 6.5 kb apart. Each of these genes contains a large intervening sequence (IVS) of approximately 1 kb in precisely the same position between condons 104 and 105. In addition, each of these genes has a small IVS between codons 30 and 31. In homozygous delta beta thalassemia DNA, there is deletion of all of the normal delta and beta gene fragments. However, a new fragment 4.2 kb in size containing the 5' end of the delta globin gene is retained. Retention of this fragment in delta beta thalassemia, but not in HPFH is consistent with a role for sequences in this region for limiting gamma globin gene expression. Studies to date suggest that the beta + and beta 0 thalassemias will be due to a heterogeneous group of DNA defects affecting either beta globin gene transcription or beta mRNA processing. In most cases of beta + and beta 0 thalassemia DNA analyzed, there is no detectable deletion of beta or delta genes. In three India beta 0 patients, deletion of the 3' end of the beta gene has been found. Analysis of cloned beta globin genes from a patient with beta + thalasseia shows differences from normal in the fragments generated by restriction enzymes which cut frequently. Whether these differences are responsible for the defect in thalassemia or are polymorphisms unrelated to thalassemia remains to be determined.

  5. Phosphoproteomic analysis of apoptotic hematopoietic stem cells from hemoglobin E/β-thalassemia

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    Roytrakul Sittiruk

    2011-06-01

    Full Text Available Abstract Background Hemoglobin E/β-thalassemia is particularly common in Southeast Asia and has variable symptoms ranging from mild to severe anemia. Previous investigations demonstrated the remarkable symptoms of β-thalassemia in terms of the acceleration of apoptotic cell death. Ineffective erythropoiesis has been studied in human hematopoietic stem cells, however the distinct apoptotic mechanism was unclear. Methods The phosphoproteome of bone marrow HSCs/CD34+ cells from HbE/β-thalassemic patients was analyzed using IMAC phosphoprotein isolation followed by LC-MS/MS detection. Decyder MS software was used to quantitate differentially expressed proteins in 3 patients and 2 normal donors. The differentially expressed proteins from HSCs/CD34+ cells were compared with HbE/β-thalassemia and normal HSCs. Results A significant change in abundance of 229 phosphoproteins was demonstrated. Importantly, the analysis of the candidate proteins revealed a high abundance of proteins that are commonly found in apoptotic cells including cytochrome C, caspase 6 and apoptosis inducing factors. Moreover, in the HSCs patients a significant increase was observed in a specific type of phosphoserine/threonine binding protein, which is known to act as an important signal mediator for the regulation of cell survival and apoptosis in HbE/β-thalassemia. Conclusions Our study used a novel method to investigate proteins that influence a particular pathway in a given disease or physiological condition. Ultimately, phosphoproteome profiling in HbE/β-thalassemic stem cells is an effective method to further investigate the cell death mechanism of ineffective erythropoiesis in β-thalassemia. Our report provides a comprehensive phosphoproteome, an important resource for the study of ineffective erythropoiesis and developing therapies for HbE/β-thalassemia.

  6. Human T cell lymphotropic virus type 1 infection among U.S. thalassemia patients.

    Science.gov (United States)

    Switzer, William M; Shankar, Anupama; Trimble, Sean R; Thompson, Alexis A; Giardina, Patricia J; Cohen, Alan R; Coates, Thomas D; Vichinsky, Elliott; Neufeld, Ellis J; Boudreaux, Jeanne M; Heneine, Walid

    2013-07-01

    Thalassemia is an inherited genetic disorder requiring multiple transfusions to treat anemia caused by low hemoglobin levels. Thus, thalassemia patients are at risk for infection with blood-borne pathogens, including human T cell lymphotropic viruses (HTLV) that are transmitted by transfusion of cellular blood products. Here, we examined the prevalence of HTLV among 234 U.S. thalassemia patients using sera collected in 2008. Sera were tested for antibodies to HTLV-1/2 using enzyme immunoassay (EIA) and a confirmatory western blot (WB) that differentiates between HTLV-1 and HTLV-2. Demographic information and clinical information were collected at study enrollment, including HIV and hepatitis C virus (HCV) status. Three patients (1.3%) were WB positive; two were HTLV-1 and one could not be serotyped as HTLV-1/2. All three HTLV-positive persons were HIV-1 negative and one was HCV seropositive. The HTLV seroprevalence was higher than that of HIV-1 (0.85%) and lower than HCV (18.8%) in this population. All three patients (ages 26-46 years) were diagnosed with β-thalassemia shortly after birth and have since been receiving multiple transfusions annually. Two of the HTLV-positive patients confirmed receiving transfusions before HTLV blood screening was implemented in 1988. We identified a substantial HTLV-1 seroprevalence in U.S. thalassemia patients that is much greater than that seen in blood donors. Our findings highlight the importance of HTLV testing of patients with thalassemia and other diseases requiring multiple transfusions, especially in recipients of unscreened transfusions. In addition, appropriate counseling and follow-up of HTLV-infected patients are warranted. PMID:23409829

  7. Birth of healthy children after preimplantation diagnosis of β-thalassemia

    Institute of Scientific and Technical Information of China (English)

    焦泽旭; 庄广伦; 周灿权; 舒益民; 李洁; 梁晓燕

    2004-01-01

    Background Clinical programs for preventing β-thalassemia are presently based on prospective carrier screening and prenatal diagnosis. This paper report an achievement of a pregnancy with unaffected embryos using in vitro fertilization and embryo transfer (IVF-ET), in combination with preimplantation genetic diagnosis (PGD), for a couple at risk of having children with β-thalassemia.Methods A couple carrying different thalassemia mutations, both a codon 41-42 mutation and the IVS Ⅱ 654 mutation, received standard IVF treatment, with intracytoplasmic sperm injection, embryo biopsiy, single cell polymerase chain reaction (PCR) and DNA analysis. Only unaffected or carrier embryos were transferred to the uterine cavity. After confirmation of pregnancy, a prenatal diagnosis was performed.Results Of a total of 13 embryos analyzed for β-globin mutations, PGD indicated that 2 were normal,3 were affected, and 6 were carriers. Diagnosis could not be made in the other 2 embryos. Three embryos were transferred to the uterus on the third day after oocyte retrieval. Ultrasonography revealed a twin pregnancy with one blighted ovum. The prenatal genetic diagnosis revealed that both fetuses were unaffected, and two healthy boys were born, confirming the results of PGD.Conclusions We developed a single-cell based primer extension preamplification (PEP)-PCR assay for the detection of β-thalassemia mutations. The assays were efficient and accurate at all stages of the procedure, and resulted in the birth of PGD-confirmed β-thalassemia free children in China. PEP was used here in PGD for β-thalassemia.

  8. Frequency of thalassemia carrier and Hb variant and the quality of stored donor blood

    OpenAIRE

    Eva A. Maharani; Yuyun S.M. Soedarmono; Nainggolan, Ita M.

    2015-01-01

    Background: This study was aimed to determine the frequency of thalassemia and Hb variant in blood donor. In addition, we also wanted to know the quality of blood from the donor up to seven days of storage, by calculating percentage of hemolysis in vitro.Methods: This cross-sectional study was conducted on 138 blood donor specimens at Red Cross Blood Centre Unit in Jakarta. All specimens were tested for thalassemia and Hb variant by complete blood count (CBC) and Hb analysis with HPLC method ...

  9. Improving Outcome of Thalassemia with Hematopoetic Stem Cell Transplantation: An Experience of Gujarat Cancer Research Institute.

    Science.gov (United States)

    Raut, Shreeniwas; Shah, Sandip; Shah, Kamalesh; Patel, Kinnari; Talati, Shailesh; Parikh, Sonia; Anand, Asha; Panchal, Harsha; Patel, Apurva

    2016-09-01

    Total 26 children of thalassemia underwent hematopoetic stem cell transplantation from September 2006 to December 2014. Out of these 17 were matched sibling transplantation (MST) and 9 were unrelated umbilical cord blood transplantation (UCT). Median age was 4 years. At a median follow up of 46.5 months, 12 of 17 (70 %) MST and 3 out of 9 (33.33 %) UCT were cured of thalassemia. Three (11.53 %) patients died due to transplant related mortality. Average cost of MST was 6 lakhs and that of UCT was 20 lakhs. PMID:27429520

  10. 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)

  11. Molecular Mechanism of AHSP-Mediated Stabilization of Alpha-Hemoglobin

    Energy Technology Data Exchange (ETDEWEB)

    Feng,L.; Gell, D.; Zhou, S.; Gu, L.; Kong, Y.; Li, J.; Hu, M.; Yan, N.; Lee, C.; et al.

    2005-01-01

    Hemoglobin A (HbA), the oxygen delivery system in humans, comprises two alpha and two beta subunits. Free alpha-hemoglobin (alphaHb) is unstable, and its precipitation contributes to the pathophysiology of beta thalassemia. In erythrocytes, the alpha-hemoglobin stabilizing protein (AHSP) binds alphaHb and inhibits its precipitation. The crystal structure of AHSP bound to Fe(II)-alphaHb reveals that AHSP specifically recognizes the G and H helices of alphaHb through a hydrophobic interface that largely recapitulates the alpha1-beta1 interface of hemoglobin. The AHSP-alphaHb interactions are extensive but suboptimal, explaining why beta-hemoglobin can competitively displace AHSP to form HbA. Remarkably, the Fe(II)-heme group in AHSP bound alphaHb is coordinated by the distal but not the proximal histidine. Importantly, binding to AHSP facilitates the conversion of oxy-alphaHb to a deoxygenated, oxidized [Fe(III)], nonreactive form in which all six coordinate positions are occupied. These observations reveal the molecular mechanisms by which AHSP stabilizes free alphaHb.

  12. Buffett's Alpha

    DEFF Research Database (Denmark)

    Frazzini, Andrea; Kabiller, David; Heje Pedersen, Lasse

    Berkshire Hathaway has realized a Sharpe ratio of 0.76, higher than any other stock or mutual fund with a history of more than 30 years, and Berkshire has a significant alpha to traditional risk factors. However, we find that the alpha becomes insignificant when controlling for exposures to Betting...

  13. Causes of New Cases of Major Thalassemia in Sistan and Balouchistan Province in South-East of Iran

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    S Izadi

    2012-11-01

    Full Text Available Background: Thalassemia is the most common monogenic disease in South-East of Iran. Despite the 70% reduction in Iranian thalassemia cases after thalassemia control comprehensive program, 601 affected babies were born in Sistan and Balouchistan Province, Iran from 2002 to 2010, so this study aims at investigating the causes of new thalassemia cases.Methods: Data from this retrospective cross-sectional study was collected through interviews and information in the patients’ hospital records.Results: Data revealed that 52.4% of fathers and 78.4% of mothers of thalassemic children had elementary education or less. In addition, 78.6% of the couples did not undergo premarital screening for thalassemia and 71.2% of the couples were not notified of their own minor thalassemia until a child was born with major thalassemia. Of the diagnosed minor couples, about 25% did PND and the others did not carry out because mothers were unaware of proper gestational age and of the importance of this issue, financial problems, and the husbands’ disagreement to take the tests. Moreover, 16 mothers, in spite of being diagnosed of having a major fetus, refused to terminate the pregnancy.Conclusion: The most preventable causes for affected births include couples’ unawareness of being minor and unawares of the PND importance and process.

  14. ATLAS - End-Cap calorimeter

    CERN Multimedia

    2006-01-01

    The End-cap calorimeter was moved with the help of the rails and this calorimeter will measure the energy of particles close to the beam axis when protons collide. Cooling is important for maximum detector efficiency.

  15. Researchers dodge UK migration cap

    Science.gov (United States)

    Dacey, James

    2011-03-01

    Research scientists are among those to be prioritized under the UK government's new immigration rules that will impose an annual cap on the number of work visas issued to those from outside the European Union (EU).

  16. Genetics Home Reference: cap myopathy

    Science.gov (United States)

    ... or a spine that curves to the side ( scoliosis ). The name cap myopathy comes from characteristic abnormal ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

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

    Directory of Open Access Journals (Sweden)

    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

  18. Molecular epidemiology of β-thalassemia in Pakistan: Far reaching implications

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    Saqib H Ansari

    2012-01-01

    Full Text Available Background: β -Thalassaemia, an autosomal recessive hemoglobinopathy, is one of the commonest genetically transmitted disorders throughout the world. Collective measures including carrier identification, genetic counseling and prenatal diagnosis are required for preventing β-thalassemia. Aim: To achieve this objective, Identification of the spectrum of genetic mutations, especially for various ethnic backgrounds in Pakistan. Therefore, we designed a cross sectional prospective study to identify the frequency of various gene mutations in different ethnic groups of Pakistan. Materials and Methods: Over a 5-year period, DNA from 648 blood samples {including specimens of chorionic villus sampling (CVS} were analyzed for the twelve most common β-thalassemia mutations found in the Pakistani population by a Multiplex amplification refractory mutation system (ARMS. Each sample was analyzed for the mutation as well as the normal gene, appropriate with negative and positive controls, and reagent blanks. Results: Out of 648 samples mutations were identified in 640 (98.75% samples by multiplex ARMS. 8 common β-thalassemia mutations were identified in 8 different ethnic groups accounting for 93.9% of the β-thalasemia alleles. Conclusions: Based on the outcome of this study a cost effective proposal is formulated for detection of β-thalassemia mutations.

  19. Evolution of a genetic disease in an ethnic isolate:. beta. -Thalassemia in the Jews of Kurdistan

    Energy Technology Data Exchange (ETDEWEB)

    Rund, D.; Cohen, T.; Filon, D.; Rachmilewitz, E.; Oppenheim, A. (Hadassah Univ. Hospital, Jerusalem (Israel)); Dowling, C.E.; Warren T.C.; Kazazian, H.H. Jr. (Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)); Barak, I. (Kaplan Hospital, Rehovot (Israel))

    1991-01-01

    {beta}-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the {beta}-globin gene. Specific populations generally carry a small number of mutations, the most common of which are those that are widely distributed regionally. The present study constitutes an extensive molecular characterization of this disease in a small, highly inbred ethnic group with a high incidence of {beta}-thalassemia-the Jews of Kurdistan. An unusual mutational diversity was observed. In 42 sibships 13 different mutations were identified, of which 3 are newly discovered. Four of the mutations are unique to Kurdish Jews and have not been discovered in any other population. A fifth was found outside Kurdish Jews only in an Iranian from Khuzistan, a region bordering Kurdistan. Two-thirds of the mutant chromosomes carry the mutations unique to Kurdish Jews. The authors traced the origin of the mutations to specific geographic regions within Kurdistan. This information, supported by haplotype analysis, suggests that thalassemia in central Kurdistan (northern Iraq) has evolved primarily from multiple mutational events. They conclude that several evolutionary mechanisms contributed to the evolution of {beta}-thalassemia in this small ethnic isolate.

  20. Fe-52 imaging of intrathoracic extramedullary hematopoiesis in a patient with beta-thalassemia.

    Science.gov (United States)

    Adams, B K; Jacobs, P; Byrne, M J; Bird, A R; Boniaczszuk, J

    1995-07-01

    Fe-52 scintigraphy was used to confirm extramedullary hematopoiesis in a patient with beta-thalassemia and intrathoracic masses. Imaging was performed on a standard gamma camera with a high-energy collimator. Tc-99m labeled tin colloid and In-111 chloride scintigraphy failed to reveal uptake by the masses. The exclusion of malignancy obviated the need for invasive diagnostic measures. PMID:7554666

  1. Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome

    DEFF Research Database (Denmark)

    Refaat, Marwan M; El Hage, Lea; Steffensen, Annette Buur;

    2016-01-01

    The authors present a unique case of torsades de pointes in a β-thalassemia patient with early iron overload in the absence of any structural abnormalities as seen in hemochromatosis. Genetic testing showed a novel KCNQ1 gene mutation 1591C>T [Gln531Ter(X)]. Testing of the gene mutation in Xenopus...

  2. Mixed chimerism following hematopoietic stem cell transplantation in pediatric thalassemia major patients: a single center experience

    Directory of Open Access Journals (Sweden)

    Elif Ünal İnce

    2010-03-01

    Full Text Available Objective: Stable mixed chimerism (MC may result in cure for thalassemia major patients following hematopoietic stem cell transplantation (HSCT, but rejection can occur. Twenty-eight HSCTs for thalassemia major were reviewed retrospectively to evaluate the clinical course of MC with possible risk factors and predictors of outcome, with a median follow-up of 1669 days (811-3576 days. Materials and Methods: Chimerism was detected by fluorescence in situ hybridization (FISH or multiplex polymerase chain reaction depending on the sex match between the donor and the recipient. Results: Primary rejection, stable MC and full donor chimerism was detected in 3.6%, 17.8% and 78.6% of patients, respectively. Clinically, 4/5 patients with stable MC had thalassemia trait with donor chimerism as low as 14%. One patient was started on pRBC transfusions at 2.5 years postHSCT. Conclusion: Stable MC can result in cure for thalassemia major patients. The clinical picture remains as the best guide for intervention until a more reliable predictor is available.

  3. A new β⁰-thalassemia frameshift mutation [β 48 (-T)] in a Uruguayan family.

    Science.gov (United States)

    Da Luz, J; López, P; Kimura, E M; Albuquerque, D M; Costa, F F; Sans, M; Sonati, M F

    2013-02-01

    We describe here a new frameshift mutation of β-thalassemia in a Uruguayan family with Italian ancestry [β48 (-T); HBB:c.146delT]. This frameshift results in formation of premature stop codon (TGA) 40 bp downstream and in a short unstable product that is degraded in the cell.

  4. Evidence for a novel mechanism independent of myocardial iron in β-thalassemia cardiac pathogenesis.

    Directory of Open Access Journals (Sweden)

    Ekatherina Stoyanova

    Full Text Available Human β-thalassemia major is one of the most prevalent genetic diseases characterized by decrease/absence of β-globin chain production with reduction of erythrocyte number. The main cause of death of treated β-thalassemia major patients with chronic blood transfusion is early cardiac complications that have been attributed to secondary iron overload despite optimal chelation. Herein, we investigated pathophysiological mechanisms of cardiovascular dysfunction in a severe murine model of β-thalassemia from 6 to 15-months of age in the absence of confounding effects related to transfusion. Our longitudinal echocardiography analysis showed that β-thalassemic mice first display a significant increase of cardiac output in response to limited oxygen-carrying erythrocytes that progressed rapidly to left ventricular hypertrophy and structural remodeling. Following this compensated hypertrophy, β-thalassemic mice developed age-dependent deterioration of left ventricular contractility and dysfunction that led toward decompensated heart failure. Consistently, murine β-thalassemic hearts histopathology revealed cardiac remodeling with increased interstitial fibrosis but virtual absence of myocardial iron deposits. Importantly, development of thalassemic cardiac hypertrophy and dysfunction independently of iron overload has uncoupled these cardiopathogenic processes. Altogether our study on β-thalassemia major hemoglobinopathy points to two successive phases resulting from severe chronic anemia and from secondarily induced mechanisms as pathophysiologic contributors to thalassemic cardiopathy.

  5. Alpha fetoprotein

    Science.gov (United States)

    Fetal alpha globulin; AFP ... Greater than normal levels of AFP may be due to: Cancer in testes , ovaries, biliary (liver secretion) tract, stomach, or pancreas Cirrhosis of the liver Liver cancer ...

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

    Directory of Open Access Journals (Sweden)

    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

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

    Directory of Open Access Journals (Sweden)

    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

  8. EARLY PREDICTORS OF RENAL DYSFUNCTION IN Β-THALASSEMIA MAJOR AND INTERMEDIA PATIENTS

    Directory of Open Access Journals (Sweden)

    Azza A.G. Tantawy

    2004-09-01

    Full Text Available Background: Better survival of thalassemia patients allowed previously unrecognized renal complications to emerge. Objectives: Assess prevalence and early predictors of renal dysfunction in young β-thalassemia major (β-TM and intermedia (β-TI patients. Subjects: 66 β-TM (group I, 26 β-TI (group II Egyptian patients and 40 healthy controls. Methods: History, examination and investigations that included kidney function tests, serum ferritin, serum bicarbonate, plasma osmolality and urinary total proteins, microalbuminuria (MAU, N-acetyl-β-D-glucosaminidase (NAG, retinol binding protein (RBP, α-1 microglobulin, bicarbonate, osmolality, Creatinine clearance (CrCl, % fractional excretion of bicarbonate (% FE-HCO3. Results: The most common renal abnormality was proteinuria (71%, followed by increased urinary level of RBP (69.4%, NAG (58.1%, α-1 microglobulin (54.8% and microalbumin (29% and also decreased urinary osmolality (58.1%. Although serum creatinine and BUN were not statistically different between thalassemia patients and control, CrCl were significantly lowered in thalassemia patients. Total serum protein and albumin was significant lower in splenectomized β-TM, whereas urinary total protein and MAU were significantly increased in all thalassemia patients. NAG, RBP and α-1 microglobulin were negatively correlated with CrCl and positively correlated with serum ferritin and urinary total protein. Z-score analysis for discrimination of patients with renal dysfunction proved superiority of urine total protein and RBP. Comparative statistics of different frequencies revealed significant difference between the urinary total protein and both MAU and % FE-HCO3. Conclusion: Asymptomatic renal dysfunctions are prevalent in young β-TM and β-TI patients that necessitate regular screening and urinary total protein and RBP may be cost-effective for early detection.

  9. Evaluation of liver fibrosis in patients with thalassemia: the important role of hyaluronic acid.

    Science.gov (United States)

    Papastamataki, Maria; Delaporta, Polyxeni; Premetis, Evangelos; Kattamis, Antonios; Ladis, Vassilios; Papassotiriou, Ioannis

    2010-10-15

    Patients with transfusion-dependent thalassemia major often develop liver fibrosis due to liver iron overload and/or hepatitis virus C (HCV) infection. Hyaluronic acid (HA) plays a prominent role in the pathogenesis of liver fibrosis and the elevation of serum HA concentration is due to either increased synthesis by inflammatory cells and hepatic stellate cells or impaired degradation by sinusoidal endothelial cells (SECs) and thus is proposed as a non-invasive biomarker of liver fibrosis either by itself and/or included in the Hepascore formula. In this study we evaluated prospectively a screening of liver fibrosis in 201 adult patients aged 19-54 years with transfusion-dependent thalassemia major, based on HA measurements. 41/201 patients were HCV-RNA (+). HA was measured with a turbidimetric assay applied on a clinical chemistry analyzer. The Hepascore was computed from the results by using the model previously published. The main results of the study showed that: a) HA levels were increased in 110/201 (55%) thalassemia patients 85.0 ± 10.3 ng/ml, ranged from 15.0 to 1495.0 μg/l, compared to 20.8 ± 7.4 μg/l reference laboratory values, p0.324 and p>0.270, respectively). Our findings indicate that hyaluronic acid measurements contribute to the assessment of liver fibrosis in patients with thalassemia and might be helpful for further evaluation of patients with liver biopsy if this is truly needed. Furthermore, liver fibrosis in thalassemia seems to be independent from liver siderosis.

  10. Prevalence of Beta-Thalassemia in premarital screening in Al-Hassa, Saudi Arabia

    International Nuclear Information System (INIS)

    The Al-Hassa area is one of the regions in Saudi Arabia where hemoglobinopathies are prevalent. The Saudi Ministry of Health designed a protocol for premarital testing after the royal decree in December 2003. The protocol was implemented in a February 2004 order. The aim of this study was to determine the prevalence of beta-thalassemia trait among subjects coming for premarital screening in the Al-Hassa area. From February 2004 to November 2004, healthy subjects coming to six marriages consultation centers in the Al-Hassa area underwent routine mandatory tests. Subjects were considered to have beta-thalassemia trait if they had a mean corpuscular volume (MCV), 80 fL and/or a mean corpuscular hemoglobin (MCH) 3.2%. Venous blood was taken into ETDA tube and the complete blood count and red blood cell indices were measured by a Coulter automated cell counter on the same day of hemoglobin collection. Electrophoresis was done on cellulose acetate. All Saudi participants (n=8918), including 4218 (47.3%) males and 4700 (52.7%) females were screened. The prevalence of beta-thalassemia trait with high hemoglobin A2 and microcytic hypochromic anemia was 3.4% (307/8918). In countries with a high prelevance of hemoglobinopathies, a premarital screening program is helpful for identification and prevention of high-risk marriages. With a 3.4% prevalence of beta-thalassemia trait in premarital couples, future comprehensive programs are needed to know the actual prevalence of beta-thalassemia in Al-Hassa. (author)

  11. Prevalence of occult hepatitis C virus infection in Iranian patients with beta thalassemia major.

    Science.gov (United States)

    Bastani, Mohammad-Navid; Bokharaei-Salim, Farah; Keyvani, Hossein; Esghaei, Maryam; Monavari, Seyed Hamidreza; Ebrahimi, Mojtaba; Garshasebi, Saba; Fakhim, Shahin

    2016-07-01

    Occult hepatitis C virus infection (OCI) is a new pathological form of chronic hepatitis virus (HCV) infection characterized by the presence of HCV RNA in liver biopsy and/or peripheral blood mononuclear cell (PBMC) specimens and the absence of HCV RNA and anti-HCV antibodies (Abs) in plasma samples. β-thalassemia major is a hereditary recessive blood disease with deficiency in the hemoglobin beta chain. Thalassemic patients need blood transfusion therapy; repeated blood transfusion increases the risk of viral blood-borne infection. The aim of this study was to determine the prevalence of OCI in Iranian patients with β-thalassemia major. From February 2015 to November 2015, a total of 147 Iranian patients with β-thalassemia major were enrolled in this cross-sectional study. After extraction of viral RNA from the plasma and PBMC samples, HCV genomic RNA in the specimens was amplified by RT-nested PCR using primers from the 5'-UTR. The HCV genotypes of the positive specimens were tested using the RFLP assay. To confirm the HCV genotypes, the 5'-UTR fragment was amplified and cloned into the pJET1.2/blunt cloning vector and then sequenced. Out of 147 patients, 106 (72.1 %) were negative for anti-HCV Abs and HCV RNA. HCV RNA was found in PBMC specimens of six (5.7 %) patients, from a total of 106 patients with undetectable plasma HCV RNA and anti-HCV Abs. Therefore, six out of 106 patients had OCI. HCV genotyping revealed that three patients were infected with HCV subtype 1b, two patients were infected with HCV subtype 3a, and one patient was infected with HCV subtype 1a. These results revealed that Iranian patients with beta-thalassemia major might have OCI. Therefore, it seems that the design of a study to identify this infection in patients with β-thalassemia major would provide valuable information. PMID:27132015

  12. A 1-year randomized controlled trial of deferasirox vs deferoxamine for myocardial iron removal in β-thalassemia major (CORDELIA)

    OpenAIRE

    Pennell, Dudley J; Porter, John B.; Piga, Antonio; Lai, Yongrong; El-Beshlawy, Amal; Belhoul, Khawla M.; Elalfy, Mohsen; Yesilipek, Akif; Kilinç, Yurdanur; Lawniczek, Tomasz; Habr, Dany; Weisskopf, Marianne; Zhang, Yiyun; Aydinok, Yesim

    2014-01-01

    In β-thalassemia major patients with severe iron burden, deferasirox was noninferior to deferoxamine for myocardial iron removal.The ejection fraction was stable during treatment for both deferasirox and deferoxamine.

  13. Creation of polar cap patches

    Science.gov (United States)

    Hosokawa, K.; Taguchi, S.; Ogawa, Y.

    2014-12-01

    Polar cap patches, which are islands of enhanced plasma density drifting anti-sunward, are one of the outstanding phenomena in the polar cap F region ionosphere. In the last decade, data from all-sky airglow imagers have been extensively used for better understanding the propagation of patches in the central polar cap region. But still, it has been rather difficult to capture the birth of patches in their generation region near the dayside cusp, because, in most places, the dayside part of the polar cap ionosphere is sunlit even in winter. In Longyearbyen (78.1N, 15.5E), Norway, however, optical observations are possible near the dayside cusp region in a limited period around the winter solstice. This enables us to directly image how polar cap patches are born in the cusp. In this paper, we present a few intervals of daytime optical observations, during which polar cap patches were generated within the field-of-view of an all-sky imager in Longyearbyen. During all the intervals studied here, we identified several signatures of poleward moving auroral forms (PMAF) in the equatorward half of the field-of-view, which are known as ionospheric manifestations of dayside reconnection. Interestingly, patches were directly produced from such poleward moving auroral signatures and propagated poleward along the anti-sunward convection near the cusp. In the literature, Lorentzen et al. (2012) first reported such a direct production of patches from PMAFs. During the current observations, however, we succeeded in tracking the propagation of patches until they reached the poleward edge of the field-of-view of the imager. This confirms that the faint airglow structures produced from PMAFs were actually transported for a long distance towards the central polar cap area; thus, polar cap patches were produced. From this set of observations, we suggest that polar cap patches during moderately disturbed conditions (i.e, non-storm time conditions) can be directly produced by the

  14. On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.

    OpenAIRE

    Wong, C.; Antonarakis, S E; Goff, S C; Orkin, S H; Boehm, C. D.; Kazazian, H H

    1986-01-01

    Seven beta-thalassemia genes were characterized after they were identified as candidates for previously undescribed mutations based upon the close association of DNA polymorphism haplotypes in the beta-globin gene cluster with specific ethnic mutations. The molecular defect in four of these genes was identical, a frameshift deletion of four nucleotides (-CTTT) within codons 41 and 42. This gene represents a common Southeast Asian mutation shared by a Laotian beta-thalassemia gene, [framework ...

  15. Screening and genetic counseling for beta-thalassemia trait in a population unselected for interest: comparison of three counseling methods.

    OpenAIRE

    Rowley, P T; Lipkin, M; Fisher, L

    1984-01-01

    We have assessed the effects of screening and genetic counseling for beta-thalassemia trait on knowledge, attitudes, and behavior in a prospective, controlled study of randomly selected adult members of a health maintenance organization. We report here that knowledge of manifestations and of inheritance of thalassemia, previously reported to be high immediately after counseling, were well maintained at 2 and 10 months following counseling. There was no detectable impairment of self-concept. M...

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

    OpenAIRE

    Soliman, Ashraf T.; Fawzia Al Yafei; Lolwa Al-Naimi; Noora Almarri; Aml Sabt; Mohamed Yassin; Vincenzo De Sanctis

    2013-01-01

    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 (l...

  17. Evaluation of pulmonary function in beta-thalassemia major patients

    International Nuclear Information System (INIS)

    Objective: To describe and quantify the functional change of the lung in patients with beta-thalassemia major (TM) and determine the correlation between pulmonary function test (PFT) results with hemoglobin, ferritin and age changes. Methodology: Pulmonary function tests were performed on 60 transfusion-dependent patients with TM, ranging in age from 10 to 45 years. Percent-predicted values for forced expiratory volume in one second (FEV1), and forced expiratory flows (FEF) 25-75% were significantly reduced, whereas forced expiratory vital capacity (FVC) and FEV1/FVC were closed to normal limits, indicating a restrictive disease. All factors including; FVC, FEV1, and FEV1/FVC, FEF 25-75% were negatively correlated with age and ferritin levels. In contrast, all factors including; FVC, FEV1, and FEV1/FVC, FEF 25-75% were positively correlated with hemoglobin (Hb). We performed linear regression analysis to study the simultaneous influence of the presence of age, ferritin, and Hb on obstructive PFT indexes. Results: Pulmonary function test results were normal in only 32 (53.3%) of 60 patients and the rest 28 cases (46.7%) showed abnormal pulmonary function. FEV1 and FEF 25% - 75% have significant negative correlation with age (r = - 0.64 p(r) = 0.003 and r = - 0.58 p(r) = 0.02 respectively), also have significant positive correlation with Hb (r = 0.31 p(r) = 0.015 and r = 0.33 p(r) = 0.01 respectively), and only FEF 25% - 75% has significant negative correlation with ferritin (r -0.26 p(r) = 0.04). Conclusion: The present study has shown that restrictive disease and reduced lung diffusing capacity are the predominant abnormalities of pulmonary function patients with TM. The low hemoglobin concentration and a fall in the diffusing capacity of the alveola - capillary membrane, together with the dependence of the reduced pulmonary diffusing capacity on age and serum ferritin levels, as well as of the entity of restrictive disease on age, suggests that pulmonary

  18. Efficacy of Carvedilol in Patients with Dilated Cardiomyopathy due to Beta-Thalassemia Major; a Double-Blind Randomized Controlled Trial

    OpenAIRE

    Gholam-Hossein Ajami; Hamid Amoozgar; Mohammad Borzouee; Mehran Karimi; Farah Piravian; Afsaneh Ashrafi; Zahra Kheirandish

    2010-01-01

    Objective: Dilated cardiomyopathy is the end result of chronic iron overload in patients with beta thalassemia major. The objective of the present study was to evaluate the safety and efficacy of Carvedilol in patients with beta thalassemia major and dilated cardiomyopathy.Methods: During a six-month period, fourteen patients with beta-thalassemia major and heart failure without diabetes mellitus referred to pediatric cardiology clinic enrolled in this double blind, randomly assigned study. A...

  19. HEMATOPOIETIC STEM CELL TRANSPLANTATION IN THALASSEMIA AND SICKLE CELL DISEASE: EXPERIENCE OF MEDITERRANEAN INSTITUTE OF HEMATOLOGY IN A MULTI-ETHNIC POPULATION.

    OpenAIRE

    Marco Marziali; Antonella Isgrò; Javid Gaziev; Guido Lucarelli

    2009-01-01

    Hematopoietic stem cell transplantation (HSCT) still remains the only definitive cure currently available for patients with thalassemia and sickle cell anemia.  Results of transplant in thalassemia  and in sickle cell anemia  have steadily improved over the last two decades due to improvements in preventive strategies, and effective control of transplant-related complications. From 2004 through  2009,  145 consecutive patients with thalassemia and sickle cell anemia, ethnically heterogeneous ...

  20. Crystal structure of Bacillus anthracis transpeptidase enzyme CapD.

    Energy Technology Data Exchange (ETDEWEB)

    Wu, R.; Richter, S.; Zhang, R.; Anderson, V. J.; Missiakas, D.; Joachimiak, A.; Biosciences Division; Univ. of Chicago

    2009-09-04

    Bacillus anthracis elaborates a poly-{gamma}-d-glutamic acid capsule that protects bacilli from phagocytic killing during infection. The enzyme CapD generates amide bonds with peptidoglycan cross-bridges to anchor capsular material within the cell wall envelope of B. anthracis. The capsular biosynthetic pathway is essential for virulence during anthrax infections and can be targeted for anti-infective inhibition with small molecules. Here, we present the crystal structures of the {gamma}-glutamyltranspeptidase CapD with and without {alpha}-l-Glu-l-Glu dipeptide, a non-hydrolyzable analog of poly-{gamma}-d-glutamic acid, in the active site. Purified CapD displays transpeptidation activity in vitro, and its structure reveals an active site broadly accessible for poly-{gamma}-glutamate binding and processing. Using structural and biochemical information, we derive a mechanistic model for CapD catalysis whereby Pro{sup 427}, Gly{sup 428}, and Gly{sup 429} activate the catalytic residue of the enzyme, Thr{sup 352}, and stabilize an oxyanion hole via main chain amide hydrogen bonds.

  1. The North Zealand CAP Monitor

    DEFF Research Database (Denmark)

    Nielsen, Minna; Ravn, Pernille; Notander Clausen, Lise;

    2016-01-01

    nurses and two senior doctors. Direct observations of the clinical processes revealed problems of coordination, complex disease trajectories that did not fit with the pneumonia pathway, unclear guidelines and variation in their interpretation. Intervention We designed a measurement system to monitor...... patients with CAP and effects of interventions to improve the quality of their care. Based on current literature we defined and tested a set of indicators and designed an audit form, a database and a dashboard for presenting the results. Two nurses monthly audited randomly selected files of patients...... steps of the pneumonia pathway. Lessons learnt Quality of care for CAP was worse than expected. Defining and agreeing upon a set of indicators was difficult and time consuming but useful to improve our understanding of how care for CAP was in routine clinical practice. Several indicators we initially...

  2. $\\alpha_s$ review (2016)

    CERN Document Server

    d'Enterria, David

    2016-01-01

    The current world-average of the strong coupling at the Z pole mass, $\\alpha_s(m^2_{Z}) = 0.1181 \\pm 0.0013$, is obtained from a comparison of perturbative QCD calculations computed, at least, at next-to-next-to-leading-order accuracy, to a set of 6 groups of experimental observables: (i) lattice QCD "data", (ii) $\\tau$ hadronic decays, (iii) proton structure functions, (iv) event shapes and jet rates in $e^+e^-$ collisions, (v) Z boson hadronic decays, and (vi) top-quark cross sections in p-p collisions. In addition, at least 8 other $\\alpha_s$ extractions, usually with a lower level of theoretical and/or experimental precision today, have been proposed: pion, $\\Upsilon$, W hadronic decays; soft and hard fragmentation functions; jets cross sections in pp, e-p and $\\gamma$-p collisions; and photon F$_2$ structure function in $\\gamma\\,\\gamma$ collisions. These 14 $\\alpha_s$ determinations are reviewed, and the perspectives of reduction of their present uncertainties are discussed.

  3. Risk factors and mortality associated with an elevated tricuspid regurgitant jet velocity measured by Doppler-echocardiography in thalassemia: a Thalassemia Clinical Research Network report.

    Science.gov (United States)

    Morris, Claudia R; Kim, Hae-Young; Trachtenberg, Felicia; Wood, John; Quinn, Charles T; Sweeters, Nancy; Kwiatkowski, Janet L; Thompson, Alexis A; Giardina, Patricia J; Boudreaux, Jeanne; Olivieri, Nancy F; Porter, John B; Neufeld, Ellis J; Vichinsky, Elliott P

    2011-10-01

    An elevated tricuspid regurgitant jet velocity (TRV) is associated with hemolysis and early mortality in sickle cell disease, yet risk factors, clinical parameters, and mortality associated with this biomarker in thalassemia are poorly defined. This report summarizes the prevalence of an elevated TRV in 325 patients screened by Doppler echocardiography in the Thalassemia Clinical Research Network. A documented TRV was reported in 148 of 325 (46%) of patients. Average age was 25.9 years (range, 5-56 years) and 97% were transfusion-dependent. Mean TRV was 2.3 ± 0.4 m/s (range, 0.2-3.5 m/s). An abnormal TRV ≥ 2.5 m/s was identified in 49 of 148 (33%) of patients with a documented TRV, 5% (8/148), with a TRV ≥ 3.0 m/s, suggesting significant PH risk. Older age was strongly associated with a high TRV; however, 16% of children had a TRV ≥ 2.5 m/s. A history of splenectomy, hepatitis C, smoking, or high white blood cell count was associated with TRV elevation. In summary, an elevated TRV is noted in one-third of transfusion-dependent thalassemia patients with a documented value and develops in both children and adults. Age, splenectomy, hepatitis C, and smoking are significant univariate risk factors, with splenectomy surfacing as the dominant risk factor over time. Mortality was low in this cohort. Prospective longitudinal studies are needed. This study is registered at http://www.clinicaltrials.gov as NCT00661804. PMID:21772051

  4. From Blogs to Bottle Caps

    Science.gov (United States)

    Edinger, Ted

    2012-01-01

    There is a wonderful community of art educators connecting a once-isolated profession through blogging. Art educators around the world are sharing ideas and communicating with their peers through this amazing resource. In this article, the author describes the bottle cap mural at Tulip Grove Elementary School which was inspired by this exchange of…

  5. Platelet Aggregation Study in Patients With Hemoglobin Eβ Thalassemia in India.

    Science.gov (United States)

    Ghosal, Tanushree; Dolai, Tuphan Kanti; Mandal, Prakas Kumar; Karthik, S; Bandyopadhyay, Anjali

    2016-09-01

    Hemoglobin Eβ thalassemia is a major public health problem in India, especially in the state of West Bengal. Various thromboembolic events are common, especially in splenectomized patients. Platelet hyperactivity most likely plays a pathogenetic role. To investigate the role of platelets in hypercoagulability, platelet aggregation tests were undertaken in the present study. Platelet-rich plasma from 30 patients with Eβ thalassemia (15 splenectomized and 15 nonsplenectomized) were studied and compared with 15 healthy participants. The 4 agonists used were adenosine 5-diphosphate, adrenaline (epinephrine), collagen, and ristocetin. The current study shows both splenectomized and nonsplenectomized patients had abnormal aggregation compared to normal healthy controls. Splenectomized patients had higher platelet aggregation than nonsplenectomized patients for all 4 agonists; but statistically significant difference among 2 groups was found only for collagen. The present study confirms a role of splenic absence in platelet hyperaggregation. PMID:25701765

  6. Amelogenesis Imperfecta with Taurodontism, Microdontia, and Minor Thalassemia: A Case Report

    Directory of Open Access Journals (Sweden)

    Fatemeh Mazhari

    2013-12-01

    Full Text Available Amelogenesis imperfecta is a group of genetic disorders that affects both the morphology and quality of tooth structure. Although the disease entity is primarily associated with abnormalities of dental and oral structures, it has been reported to be associated with a few syndromes. A 9-year-old girl with minor thalassemia referred to the Department of Pediatric Dentistry of the Mashhad Faculty of Dentistry with a complaint of sensitivity of first permanent molars. Dental findings consisted of amelogenesis imperfecta, microdontia, posterior cross bite and taurodontism. This is the first report of thalassemia accompanied with amelogenesis imperfecta. Although the patients often are non-symptomatic, the trait can be passed on to a child and if both parents carry the trait, the child could develop a more severe form of the disease; therefore, early diagnosis is important.

  7. Cord Compression due to Extramedullary Hematopoiesis in an Adolescent with Known Beta Thalassemia Major

    Directory of Open Access Journals (Sweden)

    Alan COHLER

    2009-01-01

    Full Text Available We describe a 16 year-old male with ß thalassemia major and gait disturbances that had not been given blood transfusions due to a severe childhood transfusion reaction. Thoracic spine MRI demonstrated hematopoietic marrow throughout the spine and epidural masses causing cord compression consistent with extramedullary hematopoiesis (EMH. After treatment with steroids, radiotherapy and monitored blood transfusions, the patient demonstrated significant improvement of his paraspinal lesions and near complete resolution of his neurological symptoms. While EMH causing cord compression in adolescents is rare in the current era of bone marrow transplantation or chronic transfusions, it should be considered when thalassemia major patients present with neurological deficits. The well defined imaging features of EMH can play a central role in its diagnosis and management, especially because surgical and / or radiotherapeutic intervention are often considered in cases of failed medical treatment.

  8. HAEMOGLOBIN E/ BETA - THALASSEMIA: A CASE REPORT FROM UPPER ASSAM, INDIA

    Directory of Open Access Journals (Sweden)

    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

  9. Life Satisfaction in children and adolescents with beta thalassemia major in southwest Iran

    OpenAIRE

    Hatami, Gissou; Motamed, Niloofar

    2014-01-01

    Background: Beta thalassemia major has a considerable impact on quality of life. The purpose of this study was to determine the life satisfaction of beta-thalassemic children and adolescents compared to healthy controls. Methods: This research, conducted in 2009, was a controlled, cross-sectional study in which beta-thalassemic patients, who were being followed-up by the Thalassemic Center in Bushehr, a city in southern Iran, were compared with a healthy control group. The Multi-dimensional S...

  10. A Study of Leptin Serum Concentrations in Patients with Major Beta-Thalassemia

    OpenAIRE

    I Shahramian; Akhlaghi, E; A. Ramezani; A. Rezaee; Noori, N; Sharafi, E

    2013-01-01

    Background The aim of this study was to evaluate leptin serum levels in patients with major beta thalassemia which was also associated with their ferritin serum levels. Materials and Methods This case-control study was performed on 90 children -6 months to 16 years old, in Zabol, Amir- al- Momenin Hospital. Patients were divided in two groups and were matched in age and sex. All Children were examined and those eligible children who had not known heart disease, iron deficiency anemia, kidney ...

  11. Macrophages support pathological erythropoiesis in Polycythemia Vera and Beta-Thalassemia

    OpenAIRE

    Ramos, Pedro; Casu, Carla; Gardenghi, Sara; Breda, Laura; Crielaard, Bart J.; Guy, Ella; Marongiu, Maria Franca; Gupta, Ritama; Levine, Ross L; Abdel-Wahab, Omar; Benjamin L Ebert; van Rooijen, Nico; Ghaffari, Saghi; Grady, Robert W.; Giardina, Patricia J.

    2013-01-01

    Regulation of erythropoiesis is achieved by integration of distinct signals. Among these, macrophages are emerging as erythropoietin-complementary regulators of erythroid development, particularly under stress conditions. We investigated the contribution of macrophages for physiological and pathological conditions of enhanced erythropoiesis. We utilized mouse models of induced anemia, Polycythemia vera and β-thalassemia in which macrophages were chemically depleted. Our data indicate that mac...

  12. Is there an association of giardiasis with beta-thalassemia minor?

    OpenAIRE

    Yakoob, Javed; Jafri, Wasim; Shaikh, Hizbullah

    2013-01-01

    Abstract. Beta–thalassemia minor  is a symptomless carrier state of a hemoglobinopathy which predisposes to bacterial infections. We report three cases presenting with giardiasis, a parasitic infection of gastrointestinal tract caused by Giardia lamblia. Patients presented with recurrent diarrhea and abdominal pain for over a year. An esophagogastroduodenoscopy finding varied from normal to acute duodenitis. Duodenal biopsy demonstrated changes consistent with mild chronic non-specific inflam...

  13. What regulates hepcidin in poly-transfused β-Thalassemia Major: Erythroid drive or store drive?

    OpenAIRE

    Richa Chauhan; Sunita Sharma; Jagdish Chandra

    2014-01-01

    Background: Hepcidin, a key regulator of iron homeostasis, is increased by iron overload and inflammation while suppressed by hypoxia. In spite of iron overload in β-Thalassemia Major (β-TM), a paradoxical decrease in hepcidin is observed. Aim: To assess the opposing effects of enhanced erythropoiesis due to anemia and iron overloading on hepcidin in β-TM patients. Setting and Design: This prospective observational study was done at our tertiary care hospital. Materials and Methods: Eighty-th...

  14. Apolipoprotein E4 allele and the risk of left ventricular dysfunction in thalassemia major

    Directory of Open Access Journals (Sweden)

    M Bazrgar

    2007-07-01

    Full Text Available Background: Left ventricular (LV failure is the main cause of death in thalassemia. Iron overload in thesepatients leads to formation of oxygen free radicals. Apolipoprotein (ApoE E4 allele is the least efficient inoxidative stress condition compared with apoE2 and apoE3 alleles. This study was performed to determinethe association of three different ApoE alleles with LV dysfunction in thalassemia major patients in southernIran.Methods: The present study comprised 202 patients with thalassemia major divided into three groups accordingto echocardiographic findings: Group 1 (n=135 had no cardiac impairment; Group 2 (n=38 exhibitedLV dilatation but normal LV systolic function and Group 3 (n=29 showed LV systolic dysfunction.DNA was obtained from all patients and 198 healthy control subjects for ApoE genotyping.Results: Frequency of both apoE3/E4 genotype and apoE4 allele in Group 3 were higher than the controlgroup with corresponding values of P<0.05, Odds Ratio=2.97, 1.06<8.32 and P<0.01, OR=3.01,1.15<7.69, respectively and confidence Interval of 95%. There were no differences observed betweencontrols and patient groups in relation to other genotype and allele frequencies. Interventricular septumthickness and LV end diastolic diameter in apoE4/- patients were more than those of apoE3/E3 patients.Conclusion: ApoE4 allele increases the risk of LV impairment in thalassemia major.

  15. Effect of pregnancy on differentiation of minor Beta-Thalassemia from iron deficiency

    OpenAIRE

    Ghanei M

    1997-01-01

    Differential diagnosis of Iron-deficiency anemia and Beta-Thalassemia, two common causes of anemia, affects the treatment in pregnant women. To help the diagnosis, we have tried to asses the pure effect of gestation on diagnostic criteria, eliminating iron and folate deficiency. In a prospective study, 46 thalassemic women were given Ferrous Sulphate tablets and Folate. Some indices, CBC and HbA2 were measured before and after treatment during pregnancy. The haemoglobin and HbA2 decreased and...

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

    OpenAIRE

    Ashraf Tawfik Soliman; Mohamed Yassin; Fawzia AlYafei; Lolwa Al-Naimi; Noora Almarri; Aml Sabt; Vincenzo De Sanctis

    2014-01-01

    With regular blood transfusion and iron chelation therapy, most patients with thalassemia major (BTM) now survive beyond the third decade of life . Liver disease is becoming an important cause of morbidity and mortality in these patients. Chronic hepatitis and/or severe iron overload are important causes of liver pathology. Iron chelation with desferrioxamine (Desferal)  reduces excessive body iron, but its efficacy is limited by poor compliance and dose related toxicity. The recent use of De...

  17. Longitudinal Study on Liver Functions in Patients with Thalassemia Major before and after Deferasirox (DFX) Therapy

    OpenAIRE

    SOLIMAN, Ashraf; Yassin, Mohamed; Al Yafei, Fawzia; Al-Naimi, Lolwa; Almarri, Noora; Sabt, Aml; De Sanctis, Vincenzo

    2014-01-01

    By performing regular blood transfusion and iron chelation therapy, most patients with beta thalassemia major (BTM) now survive beyond the third decade of life. Liver disease is becoming an important cause of morbidity and mortality in these patients. Chronic hepatitis and/or severe iron overload are both important causes of liver pathology. Iron chelation with desferrioxamine (DFO) reduces excessive body iron, but its efficacy is limited by poor compliance and dose related toxicity. The rece...

  18. Afterglow-reabsorbed H/sub alpha/ line delay effect in an expanding laser plasma

    Energy Technology Data Exchange (ETDEWEB)

    Derzhiev, V.I.; Zhidkov, A.G.; Maiorov, S.A.; Yakovlenko, S.I.

    1987-11-28

    The absorption of H/sub ..cap alpha../ line radiation is shown to lead to delay and even to non-monotonic afterglowing if observed along the 'line' of the expanding laser plasma. This makes it possible to explain the emission character of the H/sub ..cap alpha../ line of the O VIII ion (lambda = 10.2 nm) in experiments with 'Novette' set-ups.

  19. Molecular Characterization of β-Thalassemia in Nineveh Province Illustrates the Relative Heterogeneity of Mutation Distributions in Northern Iraq.

    Science.gov (United States)

    Eissa, Adil A; Kashmoola, Muna A; Atroshi, Sulav D; Al-Allawi, Nasir A S

    2015-06-01

    Beta thalassemia is an important health problem in Nineveh province, a large province in Northwestern Iraq. No previous study of significance had focused on the spectrum of β-thalassemia mutations in this part of the country. A total of 94 unrelated β-thalassemia minor subjects from the latter province were recruited. Their carrier status was confirmed by full blood count, Hb A2 and F estimation. Thereafter their DNA was subjected to multiplex polymerase chain reaction and reverse hybridization to detect 20 β-thalassemia mutations. A total of eleven different β-thalassemia mutations were documented. The most frequent mutation was IVS-I-110 (G>A) documented in 34 %, followed by IVS-I-6 (T>C) in 9.6 %, IVS-I-5(G>C) in 8.5 %, codon 39 (C>T) and codon 44 (-C) in 7.4 % each, while IVS-I-1(G>A) and IVS-II-1(G>A) were encountered in 6.4 % each. Other mutations were less frequent including codon 8 (-AA), IVS-I-130 (G>C), codon 5 (-CT) and IVS-II-745(C>G). The current study revealed notable differences in the relative frequencies of several β-thalassemia mutations in Nineveh province as compared to other parts of Northern Iraq. Such an observation may be reflective of different ethnic backgrounds and varying historical population interactions. It is believed that these findings complement those of earlier studies on β-thalassemia mutations from the country, and are quite essential in the setting of a proposed national preventive program. PMID:25825560

  20. A successful twin pregnancy in a patient with HbE-β-thalassemia in western India.

    Science.gov (United States)

    Merchant, R; Italia, K; Ahmed, J; Ghosh, K; Colah, R B

    2015-01-01

    Improvements in medical facilities have helped a large number of clinically severe hemoglobin E (HbE)-β-thalassemia patients reach adulthood. Consequently, there is a new challenge, that of managing women with HbE-β-thalassemia during pregnancy. In particular, they have a high risk of abortion, preterm delivery, intrauterine growth restriction, and thromboembolism. A 27-year-old HbE-β-thalassemia patient on regular transfusion, who was splenectomized and heptatitis C (HCV)-positive, conceived for the first time without any infertility treatment. However, there was incomplete abortion with heavy bleeding at 3 months of gestation, which required bilateral uterine artery angiography. The angiogram showed the left uterine artery to be moderately hypertrophied. This was embolized with 300-500 micron polyvinyl alcohol (PVA) to stop the bleeding. Soon after, she conceived again with a twin pregnancy, and at 33.3 weeks of gestation, there was a normal delivery of twin girls without any postpartum hemorrhage or perineal tear. Both babies were given prematurity care. The mother and children were both normal up till the last follow-up 18 months after delivery, and both the girls are HbE heterozygous. Thorough monitoring of endocrine functions along with proper management of transfusions and iron overload can help in reducing the complications related to pregnancy in these patients. PMID:26119442

  1. A successful twin pregnancy in a patient with HbE-β-thalassemia in western India

    Directory of Open Access Journals (Sweden)

    R Merchant

    2015-01-01

    Full Text Available Improvements in medical facilities have helped a large number of clinically severe hemoglobin E (HbE-β-thalassemia patients reach adulthood. Consequently, there is a new challenge, that of managing women with HbE-β-thalassemia during pregnancy. In particular, they have a high risk of abortion, preterm delivery, intrauterine growth restriction, and thromboembolism. A 27-year-old HbE-β-thalassemia patient on regular transfusion, who was splenectomized and heptatitis C (HCV-positive, conceived for the first time without any infertility treatment. However, there was incomplete abortion with heavy bleeding at 3 months of gestation, which required bilateral uterine artery angiography. The angiogram showed the left uterine artery to be moderately hypertrophied. This was embolized with 300-500 micron polyvinyl alcohol (PVA to stop the bleeding. Soon after, she conceived again with a twin pregnancy, and at 33.3 weeks of gestation, there was a normal delivery of twin girls without any postpartum hemorrhage or perineal tear. Both babies were given prematurity care. The mother and children were both normal up till the last follow-up 18 months after delivery, and both the girls are HbE heterozygous. Thorough monitoring of endocrine functions along with proper management of transfusions and iron overload can help in reducing the complications related to pregnancy in these patients.

  2. Hemoglobinopathies and thalassemia screening among Senoi Orang Asli in Peninsular Malaysia

    Science.gov (United States)

    Rong, Danny Koh Xuan; Ismail, Endom; Sabudin, Raja Zahratul Azma Raja; Hussin, Noor Hamidah; Othman, Ainoon

    2015-09-01

    Orang Asli are the minority indigenous people in Peninsular Malaysia and can be divided into 3 main groups (Negrito, Senoi and Proto Malay) with different six sub-ethnics under each group. Within the Senoi group, the six sub-ethnics are sub-ethnic Mah Meri, Semoq Beri, Che Wong, Jah Hut, Semai and Temiar. This study was aimed to investigate the current prevalence of α- and β-thalassemia and hemoglobinopathies and their mutation types among all six sub-ethnics of Senoi Orang Asli. Blood samples from 685 Senoi participants were collected and sent immediately for routine full blood count analysis and hemoglobin sub-typing. Of 378 subjects screened, 7 subjects were found to be Hemoglobin E (HbE) beta thalassemia carriers, 13 beta thalassaemic, 35 Hemoglobin Constant Spring (HbCS) carriers, 6 compound HbE and HbCS carriers, 32 with HbE disease and 163 HbE heterozygote carriers. The findings of high HbE among Temiars and Jah Huts and high HbCS exclusively in Jah Huts in this study suggest distinct differences across sub-ethnics under Senoi group. Understanding of prevalence and wide spectrum of thalassemia and hemoglobinopathies among Senoi and Orang Asli is essential for national thalassaemia awareness and prevention program, especially in Orang Asli communities.

  3. Talassemia β intermediária em gestante Intermediate β thalassemia in a pregnant woman

    Directory of Open Access Journals (Sweden)

    Tatiana M. Sakamoto

    2008-12-01

    Full Text Available A talassemia β é a forma considerada clinicamente a mais importante dentre as talassemias, em virtude do grau de morbidade e mortalidade, em consequência da anemia hemolítica. O presente relato de caso refere-se a uma gestante portadora da talassemia β intermediária, identificada em programa de rastreamento de anemia hemolítica e tem como objetivo demonstrar a importância do diagnóstico precoce e adequado de uma anemia hereditária, durante o pré-natal. Ressalta também a necessidade de orientação aos portadores em relação aos seus descendentes e a eficiência do acompanhamento por uma equipe multidisciplinar especializada.β-thalassemia is clinically the most important form of thalassemia due to its high level of morbidity and mortality as a result of intense hemolytic anemia. The present case report describes the case a pregnant woman who is an intermediate β-thalassemia carrier identified in a screening program for hemolytic anemia. This work aims at showing the importance of correct and early diagnosis of inherited anemia during pregnancy. It also stresses the need of guidance for carriers in respect to their progeny and discusses the efficiency of follow ups by a multidisciplinary team during pregnancy.

  4. Prognostic factors in bone marrow transplantation for beta thalassemia major: experiences from Iran.

    Science.gov (United States)

    Ghavamzadeh, A; Nasseri, P; Eshraghian, M R; Jahani, M; Baybordi, I; Nateghi, J; Khodabandeh, A; Sadjadi, A R; Mohyeddin, M; Khademi, Y

    1998-12-01

    This study concerns the effects of several pre-transplant features on outcome for patients with beta thalassemia major who underwent bone marrow transplantation (BMT). Seventy patients with beta thalassemia major underwent bone marrow transplantation during the period 1991-1997 in Shariati Hospital in Tehran, Iran. The survival and rejection curves levelled off at 8 and 18 months after transplantation at 82.6% and 11.4%, respectively. Pre-transplant clinical features (age, serum ferritin, portal fibrosis, hepatomegaly and quality of chelation therapy) were examined for their effects on survival and recurrence of thalassemia in this group of patients who were less than 16 years old. Increasing age, presence of portal fibrosis and increasing serum ferritin were significantly associated with reduced probability of survival (P = 0.0047, P = 0.016 and P = 0.024, respectively). Hepatomegaly and inadequate pre-transplant chelation therapy which were documented as poor prognostic factors in previous studies, were not evaluable in this study. We also showed the benefits of transplanting more than 5.5 x 10(8)/kg cells in this group of patients with no increase in complications.

  5. Vascular dysfunction in patients with young β-thalassemia: relation to cardiovascular complications and subclinical atherosclerosis.

    Science.gov (United States)

    Adly, Amira Abdel Moneam; El-Sherif, Nayera Hazaa; Ismail, Eman Abdel Rahman; El-Zaher, Yosra Abd; Farouk, Amal; El-Refaey, Asmaa Mohamed; Wahba, Mohammed Samy

    2015-11-01

    We aimed to study the endothelial dysfunction among children and adolescents with transfusion-dependent β-thalassemia using von Willebrand factor antigen (VWF:Ag) and flow cytometric analysis of circulating CD144(+) endothelial microparticles (EMPs) and endothelial progenitor cells (CD34(+)VEGFR2(+)) and assess their relation to iron overload, erythropoietin and chelation therapy as well as echocardiographic parameters and carotid intima-media thickness. The VWF:Ag, EMPs, and CD34(+)VEGFR2(+) cells were significantly higher among patients with β-thalassemia than controls (P < .001). The type of chelation and patients' compliance did not influence the results. No significant correlations were found between the studied vascular markers. Patients with evident heart disease had higher VWF: Ag, EMPs, and CD34(+)VEGFR2(+) cells than those without. Carotid intima-media thickness was increased among patients but not correlated with vascular markers. We suggest that procoagulant EMPs and VWF: Ag are involved in cardiovascular complications in patients with young β-thalassemia. CD34(+)VEGFR2(+) cells were further increased in response to tissue injury contributing to reendothelialization and neovascularization.

  6. STUDY OF PALMAR DERMATOGLYPHICS PATTERN CHANGES IN β-THALASSEMIA MAJOR PATIENTS

    Directory of Open Access Journals (Sweden)

    Debjyoti

    2016-04-01

    Full Text Available Palmar dermatoglyphics pattern in β-Thalassemia major patients and in normal subjects were studied to find out any statistically significant changes if present. SETTING AND DESIGN Qualitative and quantitative changes in the pattern may be present, as these patterns are genetically determined. BACKGROUND β-Thalassemia major is a serious and prevalent form of haemoglobin disorder in these regions with autosomal recessive pattern of inheritance. Study of population by applying different tools is an important aspect of prevention. Dermatoglyphics study may be helpful to know the phenotypic trait of the individual. METHODS AND MATERIALS 50 diagnosed cases of β-thalassemia major and the equal number of matched control group of either sex were included in the investigation. Palmar imprints were taken by traditional paper and ink method. STATISTICAL ANALYSIS Chi square test and t- test were used. RESULTS AND CONCLUSION Arch, loop and whorl’s character, a-b ridge counts and ‘atd’ angles were studied. Significant rise in number of whorls and changes in ‘atd’ angles were detected in the cases. This information may be useful in population genetics study, though more detail research is needed.

  7. Analysis of Fetal Blood: Is There Still a Role for Prenatal Diagnosis of Thalassemia?

    Science.gov (United States)

    Yang, Yu; He, Ping; Li, Dong-Zhi

    2016-01-01

    The aim of the present study was to report the use of analysis of fetal blood in prenatal diagnosis (PND) of β- and α-thalassemia (β- and α-thal), at a Chinese tertiary, maternity center. All cases undergoing invasive testing for PND of thalassemias from 1 January 2010 to 31 December 2014 were included. The main clinical characteristics of these invasive procedures were retrieved from the database software used for analysis. One thousand, nine hundred and six invasive PNDs were carried out for thalassemia, including 904 cases for β-thal and 1002 for α-thal. In the 904 PNDs for β-thal, chorionic villus sampling (CVS) was done in 321 cases and amniocentesis in 583 cases. No fetal blood analysis was used for cases at-risk for β-thal. In the 1002 PNDs for α-thal, CVS was done in 724 cases, amniocentesis in 137 cases and fetal blood analysis in 141 cases. All the 278 cases sampled by amniocentesis or fetal blood analysis were found to be affected by Hb Bart's (γ4) disease. Currently, fetal blood analysis is considered only in relatively late gestation when Hb Bart's disease has already been identified by ultrasound in a fetus at-risk for α-thal.

  8. Abdominal Ultrasonographic Findings in Beta Thalassemia Major Patients in North of Iran

    Directory of Open Access Journals (Sweden)

    R. Abdi

    2007-05-01

    Full Text Available Background and Objective: High prevalence of tha-lassemia in the North of Iran is a major challenge of medical practitioners in this area. To investigate the prevalence of abdominal ultrasound findings in these patients, the present study was conducted. Materials and Methods: Two hundred patients (92 girls and 108 boys, all suffering from Beta thalas-semia major with a mean age of 14.5 years (ranging from 5 to 34 years were included in the study. Ab-dominal ultrasound examination was performed by two radiologists between 2001 and 2005 to detect sonographic findings in these patients. Results: Hepatomegaly was presented in 75% of these patients and splenomegaly was detected in 46% of them while 45% of cases had undergone splenec-tomy. Total incidence of gall bladder stone formation was 14% (15.5% in females and 11.9% in males and it had a direct correlation with the patients’ age. Lymphadenopathy of portohepatic and celiac area was detected in 138 (68% patients. In 4 patients ul-trasound revealed portal vein thrombosis whereas in the other 4 cases, splenic extramedullary hematopoi-esis was detected. Conclusion: This study revealed that a remarkable portion of patients had developed these complica-tions. Authors suggest ultrasound to be a part of rou-tine examinations in beta thalassemia major patients who receive multiple transfusions.

  9. Genetic diversity of HCV among various high risk populations (IDAs, thalassemia, hemophilia, HD patients) in Iran

    Institute of Scientific and Technical Information of China (English)

    Rafiei A; Darzyani Azizi M; Taheri S; Haghshenas MR; Hosseinian A; Makhlough A

    2013-01-01

    Objective: To determine the patterns of distribution of HCV genotypes among high risk population in north of Iran. Methods: A cross-sectional study was conducted on 135 HCV RNA-positive high risk individuals including thalassemia, hemophilia, patients under hemodialysis and intravenous drug addicts. HCV genotypes were determined based on amplification with type-specific primers methods. Results: Among the 187 anti-HCV positive samples, only 135 (72.2%) gave HCV-RNA positvity. Over all, the most identified HCV type was genotype 3a (51.1%) followed by 1a (27.4%), 1b (8.2%). Sixteen (11.9%) out of 135 HCV RNA-positive participants have infected with more than one genotype or subtypes as follow; 1a/1b in 11 (8.2%), 2/3a in 3 (2.2%), and 1a/1b/3a in 2 (1.5%). Stratification of participants revealed that HCV subtype 3a was more prominent in thalassemia, hemophilia and HD patients but 1a and 1b were frequent in intravenous drug addicts. Conclusions: This study is the first report on HCV genotypes among Iranian subjects with different exposure categories resided in Mazandaran, where genotype 3a was found to be the most frequent genotype in thalassemia, hemophilia, and hemodialysis patients but not in IDAs. Since the addiction age is decreasing in Iran and a lot of addicts are IDAs, it might change the subtype pattern of HCV in general population.

  10. Prenatal diagnosis for beta-thalassemia major in the Iranian Province of Hormozgan.

    Science.gov (United States)

    Nikuei, Pooneh; Hadavi, Valeh; Rajaei, Minoo; Saberi, Mozhgan; Hajizade, Fozieh; Najmabadi, Hossein

    2008-01-01

    beta-Thalassemias are a group of heterogenous recessive disorders common in many parts of the world. Despite the great advances in the treatment of thalassemia, there is so far no cure, but perhaps bone marrow transplantation (BMT) is a possibility. Prevention, using prenatal diagnosis and selective abortion in the cases where the fetus is found to be affected, should be considered as a sensible alternative. During the past 5 years, 112 couples have been referred to our Center for detection of their beta-thalassemia (beta-thal) carrier status. In this group, common and rare mutations were detected. Of these, 106 couples (94.6%) came for counseling during pregnancy and six (5.4%) came before becoming pregnant. Prenatal diagnosis was performed for the 106 couples at risk. Fetal DNA was obtained from both chorionic villus sampling (CVS) (99) and amniotic fluid (7). Using reverse hybridization, 64 (60.4%) were found to be heterozygous for a beta-thal mutation and 24 (22.6%) were normal. Eighteen (17.0%) were found to carry an affected fetus and these pregnancies were terminated. PMID:19065331

  11. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme

    Directory of Open Access Journals (Sweden)

    Ravindra Kumar

    2015-01-01

    Full Text Available Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness programme. Clinically diagnosed 516 cases of beta thalassemia were screened at molecular level. A detailed clinical Proforma was recorded with the information of origin of the family, ethnicity, and consanguinity. The present study reports that subjects originating from Uttar Pradesh, Uttarakhand, Bihar, and Jharkhand have c.92+5G>C and c.124_127delTTCT mutation as the commonest mutation compared to the subjects hailing from Madhya Pradesh and Chhattisgarh and Nepal where sickle mutation was found more common. In 40 consanguineous unions more common and specific beta mutations with higher rate of homozygosity have been reported. This consanguinity-based data helps not only in deciding target oriented prenatal diagnostic strategies but also in objective based awareness programmes in prevention of thalassemia major birth.

  12. The $\\alpha-\\alpha$ fishbone potential revisited

    CERN Document Server

    Day, J P; Elhanafy, M; Smith, E; Woodhouse, R; Papp, Z

    2011-01-01

    The fishbone potential of composite particles simulates the Pauli effect by nonlocal terms. We determine the $\\alpha-\\alpha$ fishbone potential by simultaneously fitting to two-$\\alpha$ resonance energies, experimental phase shifts and three-$\\alpha$ binding energies. We found that essentially a simple gaussian can provide a good description of two-$\\alpha$ and three-$\\alpha$ experimental data without invoking three-body potentials.

  13. ATLAS End Cap toroid in upstanding position

    CERN Multimedia

    2005-01-01

    End Cap toroid The ATLAS End Cap toroid weights 240-ton and is 12-m diameter high. The parts of this vacuum vessel had to be integrated and tested so that End Cap Toroid has no leaks. After that it could be cooled down to 80 K.

  14. Analyses of hydraulic performance of velocity caps

    DEFF Research Database (Denmark)

    Christensen, Erik Damgaard; Degn Eskesen, Mark Chr.; Buhrkall, Jeppe;

    2014-01-01

    The hydraulic performance of a velocity cap has been investigated. Velocity caps are often used in connection with offshore intakes. CFD (computational fluid dynamics) examined the flow through the cap openings and further down into the intake pipes. This was combined with dimension analyses...

  15. 21 CFR 888.3000 - Bone cap.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Bone cap. 888.3000 Section 888.3000 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES ORTHOPEDIC DEVICES Prosthetic Devices § 888.3000 Bone cap. (a) Identification. A bone cap is a...

  16. Dynamic Modeling of an Evapotranspiration Cap

    Energy Technology Data Exchange (ETDEWEB)

    Jacob J. Jacobson; Steven Piet; Rafael Soto; Gerald Sehlke; Harold Heydt; John Visser

    2005-10-01

    The U.S. Department of Energy is scheduled to design and install hundreds of landfill caps/barriers over the next several decades and these caps will have a design life expectancy of up to 1,000 years. Other landfill caps with 30 year design lifetimes are reaching the end of their original design life; the changes to these caps need to be understood to provide a basis for lifetime extension. Defining the attributes that make a successful cap (one that isolates the waste from the environment) is crucial to these efforts. Because cap systems such as landfill caps are dynamic in nature, it is impossible to understand, monitor, and update lifetime predictions without understanding the dynamics of cap degradation, which is most often due to multiple interdependent factors rather than isolated independent events. In an attempt to understand the dynamics of cap degradation, a computer model using system dynamics is being developed to capture the complex behavior of an evapotranspiration cap. The specific objectives of this project are to capture the dynamic, nonlinear feedback loop structures underlying an evapotranspiration cap and, through computer simulation, gain a better understanding of long-term behavior, influencing factors, and, ultimately, long-term cap performance.

  17. Alpha One Foundation

    Science.gov (United States)

    ... Tested Find Support Find Doctor What Is Alpha-1? Alpha-1 Antitrypsin Deficiency (Alpha-1) is a ... results for inhaled augmentation More News Our Number One Goal: Find a cure for Alpha-1. Website ...

  18. Molecular Scanning of β-Thalassemia in the Southern Region of Central Java, Indonesia; a Step Towards a Local Prevention Program.

    Science.gov (United States)

    Rujito, Lantip; Basalamah, Muhammad; Mulatsih, Sri; Sofro, Abdul Salam M

    2015-01-01

    Thalassemia is the most prevalent genetic blood disorder worldwide, and particularly prevalent in Indonesia. The purpose of this study was to determine the spectrum of β-thalassemia (β-thal) mutations found in the southern region of Central Java, Indonesia. The subjects of the study included 209 β-thal Javanese patients from Banyumas Residency, a southwest region of Central Java Province. DNA analysis was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), amplification refractory mutation system (ARMS), and the direct sequencing method. The results showed that 14 alleles were found in the following order: IVS-I-5 (G > C) (HBB: c.92 + 5G > C) 43.5%, codon 26 (Hb E; HBB: c.79G > A) 28.2%, IVS-I-1 (G > A) (HBB: c.92 + 1G > A) 5.0%, codon 15 (TGG > TAG) (HBB: c.47G > A) 3.8%, IVS-I-1 (G > T) (HBB: c.92 + 1G > T) 3.1%, codon 35 (-C) (HBB: c.110delC) 2.4%. The rest, including codons 41/42 (-TTCT) (HBB: c.126_129delCTTT), codons 8/9 (+G) (HBB: c.27_28insG), codon 19 (AAC > AGC) (HBB: c.59A > G), codon 17 (AAG > TAG) (HBB: c.52A > T), IVS-I-2 (T > C) (HBB: c.92 + 2T > C), codons 123/124/125 (-ACCCCACC) (HBB: c.370_378delACCCCACCA), codon 40 (-G) (HBB: c.123delG) and Cap +1 (A > C) (HBB: c.-50A > C), accounted for up to 1.0% each. The most prevalent alleles would be recommended to be used as part of β-thal screening for the Javanese, one of the major ethnic groups in the country.

  19. STUDY OF SERUM HAPTOGLOBIN LEVEL AND ITS RELATION TO ERYTHROPOIETIC ACTIVITY IN BETA THALASSEMIA CHILDREN .

    Directory of Open Access Journals (Sweden)

    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.

  20. Glucose homeostasis in Egyptian children and adolescents with β-Thalassemia major: Relationship to oxidative stress

    Directory of Open Access Journals (Sweden)

    Kotb Abbass Metwalley

    2014-01-01

    Full Text Available Background: Oxidative stress in children with β-thalassemia may contribute to shortened life span of erythrocytes and endocrinal abnormalities. Aim: This study was aimed to evaluate glucose homeostasis in Egyptian children and adolescents with β-thalassemia major and its relation to oxidative stress. Materials and Methods: Sixty children and adolescents with β-thalassemia major were studied in comparison to 30 healthy age and sex-matched subjects. Detailed medical history, thorough clinical examination, and laboratory assessment of oral glucose tolerance test (OGTT, serum ferritin, alanine transferase (ALT, fasting insulin levels, plasma malondialdehyde (MDA as oxidant marker and serum total antioxidants capacity (TAC were performed. Patients were divided into two groups according to the presence of abnormal OGTT. Results: The prevalence of diabetes was 5% (3 of 60 and impaired glucose tolerance test (IGT was 8% (5 of 60. Fasting blood glucose, 2-hour post-load plasma glucose, serum ferritin, ALT, fasting insulin level, homeostatic model assessment for insulin resistance index (HOMA-IR and MDA levels were significantly elevated while TAC level was significantly decreased in thalassemic patients compared with healthy controls (P < 0.001 for each. The difference was more evident in patients with abnormal OGTT than those with normal oral glucose tolerance (P < 0.001 for each. We also observed that thalassemic patients not receiving or on irregular chelation therapy had significantly higher fasting, 2-h post-load plasma glucose, serum ferritin, ALT, fasting insulin, HOMA-IR, oxidative stress markers OSI and MDA levels and significantly lower TAC compared with either those on regular chelation or controls. HOMA-IR was positively correlated with age, serum ferritin, ALT, MDA, and negatively correlated with TAC. Conclusions: The development of abnormal glucose tolerance in Egyptian children and adolescents with β--thalassemia is associated with

  1. Traceability and the new CAP

    OpenAIRE

    Maraveyas, Napoleon N.; Doukas, Yannis El.

    2009-01-01

    The Common Agricultural Policy (CAP) was strongly criticized for the food safety crises of the 1990s which included Bovine Spongiform Encephalopathy (BSE), dioxin, foot and mouth disease and swine fever to name a few. Even though the first rules on food safety date from the very early days of the EU, a need was recognized to replace a number of these rules accumulated through the years, whose implementation was difficult to monitor, with a simpler and more comprehensive approach. The result w...

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

    Directory of Open Access Journals (Sweden)

    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.

  3. Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program

    Directory of Open Access Journals (Sweden)

    Marcilene Rezende Silva

    2013-01-01

    Full Text Available OBJECTIVE: To characterize alpha-chain variant hemoglobins with electric mobility similar to that of hemoglobin S in a newborn screening program. METHODS: βS allele and alpha-thalassemia deletions were investigated in 14 children who had undefined hemoglobin at birth and an electrophoretic profile similar to that of hemoglobin S when they were six months old. Gene sequencing and restriction enzymes (DdeI, BsaJI, NlaIV, Bsu36I and TaqI were used to identify hemoglobins. Clinical and hematological data were obtained from children who attended scheduled medical visits. RESULTS: The following alpha chain variants were found: seven children with hemoglobin Hasharon [alpha2 47(CE5 Asp>His, HbA2:c.142G>C], all associated with alpha-thalassemia, five with hemoglobin Ottawa [alpha1 15(A13 Gly>Arg, HBA1:c.46G>C], one with hemoglobin St Luke's [alpha1 95(G2 Pro>Arg, HBA1:c.287C>G] and another one with hemoglobin Etobicoke [alpha212 84(F5 Ser>Arg, HBA212:c.255C>G]. Two associations with hemoglobin S were found: one with hemoglobin Ottawa and one with hemoglobin St Luke's. The mutation underlying hemoglobin Etobicoke was located in a hybrid α212 allele in one child. There was no evidence of clinically relevant hemoglobins detected in this study. CONCLUSION: Apparently these are the first cases of hemoglobin Ottawa, St Luke's, Etobicoke and the α212 gene described in Brazil. The hemoglobins detected in this study may lead to false diagnosis of sickle cell trait or sickle cell disease when only isoelectric focusing is used in neonatal screening. Additional tests are necessary for the correct identification of hemoglobin variants.

  4. Regional and ethnic distribution of beta thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis

    International Nuclear Information System (INIS)

    To determine the regional and ethnic distribution of beta thalassemia mutation and the effect of consanguinity in patients referred for prenatal diagnosis of beta b-thalassemia and to target the high risk population for screening. A total of 499 couples were referred to Gentec Lab., Lahore, from all over Pakistan for prenatal diagnosis of b-thalassemia. After counseling, chorionic villus sampling was done between 10-16 weeks of gestation. DNA analysis was done by Amplification Refractory Mutation System (ARMS) for type of mutation in the Armed Forces Institute of Pathology, Rawalpindi. Ethnicity, race and consanguineous relationship of parents was determined.b-thalassemia was prevalent in Punjabis (60.7%) followed by Saraikees (25.5%). Castewise it was most frequent in Rajputs followed by Jatts, Arain, Sheikhs and Pathans. 56.7% of the couples were first cousins and 19.8% were relatives. The commonest mutations were Frameshift 8-9 (Fr8-9) 33.5%, Intervening Sequence 1-5 (IVS 1-5) 17.2%, Fr4142 - 8%, IVS 1-1 - 5.2%, Deletion 619 (Del 619) 4.2% and Codon 5 (Cd 5) - 4.2%. In samples sent for analysis, 53.1% turned out to be carriers (trait), 25.3% were diseased (thalassemia major) and 21.6% were normal. P-value of all results was less than 0.001. In this series, the highest frequency was found in Punjabi Rajputs. The commonest mutation was Fr 8-9. Most parents were first cousins. Premarital thalassemia carrier testing can effectively reduce the disease. (author)

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

    Directory of Open Access Journals (Sweden)

    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.

  6. Heart Rate Variability as an Alternative Indicator for Identifying Cardiac Iron Status in Non-Transfusion Dependent Thalassemia Patients.

    Directory of Open Access Journals (Sweden)

    Karn Wijarnpreecha

    Full Text Available Iron-overload cardiomyopathy is a major cause of death in thalassemia patients due to the lack of an early detection strategy. Although cardiac magnetic resonance (CMR T2* is used for early detection of cardiac iron accumulation, its availability is limited. Heart rate variability (HRV has been used to evaluate cardiac autonomic function and found to be depressed in thalassemia. However, its direct correlation with cardiac iron accumulation has never been investigated. We investigated whether HRV can be used as an alternative indicator for early identification of cardiac iron deposition in thalassemia patients.Ninety-nine non-transfusion dependent thalassemia patients (23.00 (17.00, 32.75 years, 35 male were enrolled. The correlation between HRV recorded using 24-hour Holter monitoring and non-transferrin bound iron (NTBI, hemoglobin (Hb, serum ferritin, LV ejection fraction (LVEF, and CMR-T2* were determined.The median NTBI value was 3.15 (1.11, 6.59 μM. Both time and frequency domains of HRV showed a significant correlation with the NTBI level, supporting HRV as a marker of iron overload. Moreover, the LF/HF ratio showed a significant correlation with CMR-T2* with the receiver operating characteristic (ROC curve of 0.684±0.063, suggesting that it could represent the cardiac iron deposit in thalassemia patients. HRV was also significantly correlated with serum ferritin and Hb.This novel finding regarding the correlation between HRV and CMR-T2* indicates that HRV could be a potential marker in identifying early cardiac iron deposition prior to the development of LV dysfunction, and may be used as an alternative to CMR-T2* for screening cardiac iron status in thalassemia patients.

  7. The Prevalence of Impaired Glucose Tolerance in Patients with Thalassemia Major in Iran: A systematic Review and Meta-analysis

    Directory of Open Access Journals (Sweden)

    M Azami

    2016-01-01

    Full Text Available Introduction: Impaired glucose tolerance (IGT is one of the most common endocrine complications in major thalassemia patients. IGT prevalence in patients with thalassemia major has been differently in different studies in Iran, about which no total estimate can be proposed. Hence, this meta analysis study aimed to investigate IGT prevalence in major thalassemia patients in Iran. Methods: This study was a systematic review based on electronic databases including Magiran, Iranmedex, SID, Medlib, IranDoc, Scopus, PubMed, Sciencedirect, Cochrane, Embase, Web of Science, Springer, Online Library Wiley as well as Google Scholar search engine without any time limitations up to 2015. All the potentially relevant papers were reviewed independently by two investigators using the standard key words. Then, all the reviewed studies that had inclusion criterion were evaluated. In order to statistically analyze the study data, random effect model was used via Stata software (Ver.11.1. Results: 1346 subjects were examined in 13 studies. IGT prevalence in patients with thalassemia major was estimated 9.6 %( CI: 95%, 6.6-12.5 in Iran. The IGT prevalence in male and female major thalassemia patients were 6.5 %( CI: 95%, 1.6-11.3 and 10.2 %( CI: 95% , 6.1-14.3, respectively. Conclusion: IGT Prevalence was demonstrated to be really high in patients with thalassemia major. As a result, implementing screening programs seems to be necessary in regard with early diagnosis of endocrine disorders especially IGT in these patients. Furthermore, it is recommended that annual glucose tolerance test be taken within such patients.

  8. Effectiveness of Eye Movement Desensitization and Reprocessing on Anxiety in Children with Thalassemia in a 12-month follow up

    Directory of Open Access Journals (Sweden)

    A Shahnavazi

    2016-02-01

    Full Text Available Background and  Objective: Thalassemia is the most common genetic diseases in the world and especially in our country. For many reasons, including chronic disease, health care costs, the expected mortality Ray disease states such as anxiety, psychological and social problems in thalassemia. The aim of the present study was to assess the efficacy of Eye Movement Desensitization and Reprocessing (EMDR on anxiety of children with thalassemia in a 12-month follow up..  Methods: It was a clinical trial study, which was performed on 60 patients with Thalassemia in 2013-2014. A total of 60 thalassemic patients based on Beck anxiety inventory, selected using sampling and were randomly divided into experimental and Control groups. in experimental group, eye movement desensitization and reprocessing therapy was perfomed in five sessions and The control group received no intervention. In order to collect information on demographic questionnaire and Beck Anxiety Inventory were used. data were gathered on anxiety symptoms at pretreatment, posttreatment and 12 month follow up and were analyzed using descriptive statistics, repeated measures and chi square. Results: The average age of the participants was 15.22±1.93  years old. This study shows that the mean or average level of anxiety children with thalassemia in the experimental group before and after intervention and in a 12-month follow up group 34.73 ± 5.62, 19.90 ± 2.48 and 19.23 ± 2.48 respectively; repeated measures ANOVA showed significant statistical difference (p.05 Conclusion: This study shows that Method of eye movement desensitization and reprocessing as an alternative method to treat or reduce anxiety, aggressive children with thalassemia .Trained Nurses can use this new method is effective in the treatment of anxiety.

  9. Secular trends in the national and provincial births of new thalassemia cases in Iran from 2001 to 2006.

    Science.gov (United States)

    Dehshal, Mahmoud Hadipour; Ahmadvand, Alireza; Darestani, Sakineh Yousefi; Manshadi, Mohsen; Abolghasemi, Hassan

    2013-01-01

    Thalassemia is one of the genetic diseases for which there are only a few successful prevention protocols. In this study, we aimed to analyze data for thalassemia newborns in a period of 6 years to find out the geographical distribution of cases, the "high-risk" provinces in Iran, the causes of thalassemia newborn cases, the coverage rate of the prevention programs and the limitations of the thalassemia registration system. To further our aim, an analytic cross-sectional study was designed at the Iranian Blood Transfusion Organization (IBTO), Tehran, Iran. A questionnaire was then prepared to gather data from each of the 30 provincial centers to find out the number and causes of thalassemia births. Furthermore, another questionnaire, to be completed by the physicians in charge, was aimed at gathering data from all 207 thalassemia care centers. We then performed a stratified analysis of the frequency of distributions; the associations among the existing variables were evaluated using the χ(2) or Fisher's exact tests at a 5.0% significance level. According to the findings, from 2001-2006, a total of 2091 thalassemia patients were born. The main causes were: the at-risk couples not using prenatal diagnosis (PND), marriages before the commencement of Iranian prevention plans, unregistered marriages based on religious conventions, among foreign citizens and the existence of some test errors. The causes of birth for 284 (13.6%) of new cases were not documented. There was a statistically significant difference between the five high-risk provinces regarding the proportional causes of thalassemia newborns [Pearson χ(2) = 4.549; degree of freedom (df) = 8, p value = 0.0001]. Although the plan succeeded in avoiding the annual birth of 826 new cases on average, there is continuing concern that more than 300 new cases were born every year during 2001-2006 and new prevention strategies need to be put into practice. It is highly recommended that focus be put on factors

  10. Analysis of thalassemia gene of 269 couples%某地区269对夫妇珠蛋白生成障碍性贫血基因检测结果

    Institute of Scientific and Technical Information of China (English)

    张艳霞; 韩泽平

    2014-01-01

    Objective The pregnant population in Guangzhou area were detected in mediterranean anemia gene to guide and standardize the premarital examination ,prenatal diagnosis ,genetic counseling ,high-risk prenatal diagno-sis and prevent the birth of children with severe thalassemia .Methods 269 couples during the period from 2013 March to September ,for examination before pregnancy and blood MCV (mean corpuscular volume) and/or hemoglo-bin electrophoresis screening positive(538 cases) were detected in mediterranean anemia gene by agarose gel electro-phoresis and gap-PCR methods .Results 269 couples accepted detection ,detection of alpha thalassemia was 28 .4% , detection of beta thalassemia rate was 19 .5% ,among them ,the couple for alpha thalassemiawith detection rate was 5 .9% ,the same as the betathalassemia detection rate was 2 .2% ,one for the alpha thalassemia ,the other party or party for beta thalassemiaalpha beta composite to poverty ,the other normaldetection rate was 4 .5% .Conclusion Mediterranean anemia examination of reproductive population ,has an important significance to eugenics and reduce the social andeconomic burden of the family .%目的:对广州地区孕前人群进行珠蛋白生成障碍性贫血基因检测,以指导规范的婚前检查、产前检查,预防重症珠蛋白生成障碍性贫血患儿的出生。方法采用琼脂糖凝胶电泳及gap-PCR方法对2013年3~9月来院进行孕前检查并且血常规平均红细胞体积(MCV)和(或)血红蛋白电泳初筛阳性的269对夫妇(共538例)进行珠蛋白生成障碍性贫血基因检测。结果接受检测的269对夫妇中,α-珠蛋白生成障碍性贫血的检出率为28.4%,β-珠蛋白生成障碍性贫血的检出率为19.5%,其中,双方夫妇同为α-珠蛋白生成障碍性贫血的检出率为5.9%,同为β-珠蛋白生成障碍性贫血的检出率为2.2%,一方为α-珠蛋白生成障碍性贫血,另一方为β-珠蛋白

  11. Molecular Basis and prenatal diagnosis of B- Thalassemia in Southeast if Iran

    Directory of Open Access Journals (Sweden)

    E. Miri Moghadam

    2005-01-01

    Full Text Available Background and purpose : bata thlassemia is the most common monogenic disorders in Iran. The gene frequency varies the country. Sistan and Baluchistan province, located in the southeast of iran with more than 1200 affected individuals, represents one of the regions where thalassemia id not only an important public health problem but also a socioeconomic problem. As a matter of fact high frequency of ß- thalassemia gene inter- family marriages, evasion of couples to carry out pre- marriage blood test, avoidance of counseling before wedding and eagerness for more children in spite of having ß - thalassemia kids collectively prompted us to eatablish prenatal diagnostic center in khordad 1381(May 2002 in this province.Materials and methods : 140 minor thalassemia couples were referred to our center from May 2002 to Feb. 2004. After admission of the couples to the center their demographic data were collected. 10 ml of blood sample was then collected from couples added with anti- coaqulant(0.5 M EDTA. DNA was subsequently extracted before being amplified by Refractory Mutation System(ARMS techniques vs the common primers of B- gene mutations in Iran. Within the 10 to 12th weeks of pregnancy, chorionic villi samples were taken and subjected onto two techniques namely direct and indirect. We afterwards evaluated the inheritance of mutation in the fetus from any of his/ her parents.Results : We carried out preliminary diagnosis for 56 couples, as well as first round and further step of prenatal diagnostic procedures for another 84 couples(n= 140. 79. 3% of the total number resided in cities, whereas 87.9% were born in Sistan and Baluchistan province. Out of which 30% and 70% had sistany and Baluchi ethnicity respectively. Furthermore, 60.7% had at least one affected child, while 85.7% had consanguineous marriages. Out of the totalnumber, 57.9% were from Sunni minority. 88.05% of the couples demonstrated one of the common mutations identified in Iran

  12. The analysis on morbidity and genotypes distribution of thalassemia in married couples of child - bearing age in Dongyuan county of Guangdong province%广东省东源县已婚育龄夫妇地中海贫血发病率及基因型分布现况分析

    Institute of Scientific and Technical Information of China (English)

    杨心琼; 黄桥海; 黄碧兰; 洪玉珍; 徐嘉; 刘晃; 王瑾; 赵文忠; 韦相才

    2014-01-01

    Objective Screening thalassemia in married couples of child-bearing age in Dongyuan county of Guangdong province through the national pre -pregnancy eugenics inspection technology platform. To analyze the situation of morbidity and genotypes distribution of thalassemia in married couples of child-bearing age, to provide references for prevention of thalassemia. Methods The thalassemia screening were conducted in married couples of child-bearing age during the 2011 to 2013 in Dongyuan county. Data of mean corpuscular volume ( MCV) , mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC),et al were collected. The positive patients were identified for the genotype of thalassemia. Patients with positive gene mutations were given genetic counseling and reproductive guidance. Results 14 334 cases were conducted the screening, of which 1 662 cases were considered as thalassemia in the preliminary screening with the morbidity of 11. 59%, 916 male patients with MCHC of (258. 08 ± 21. 02)g/L, MCV of (69. 19 ± 6. 44)fl, MCH of(19. 16 ± 4. 70)pg and 746 female patients with MCHC of ( 255. 46 ± 34. 62 ) g/L, MCV of ( 69. 79 ± 4. 33 ) fl, MCH of ( 19. 73 ± 4. 27 ) pg, no significant difference in morbidity of thalassemia were found between the two groups (P>0. 05). 1 163cases were confirmed by gene diagnosis, of which 674 cases(57. 95%) got the alpha thalassemia and 378 cases(32. 50%) got the β thalassemia. Conclusion Morbidity of thalassemia is quite high in Dongyuan county of Guangdong province, and the characteristics ofαthalassemin genothpe andβ-thalassemia genotype were consistent with that in Guangdong province. It is important for improving quality of newborn population though thalassemia screening and genetic diagnosis in child-bearing age population.%目的:利用国家孕前优生检查技术平台,对广东省东源县已婚育龄夫妇进行地中海贫血(简称地贫)筛查,了解其发病率及基因型分布情况,为地

  13. 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.

  14. Immunological Evaluation of -Thalassemia Major Patients Receiving Oral Iron Chelator Deferasirox

    International Nuclear Information System (INIS)

    Objective: To determine the immune abnormalities and occurrence of infections in transfusion-dependent -thalassemia major patients receiving oral iron chelator deferasirox (DFX). Study Design: An observational study. Place and Duration of Study: Hematology Clinics, King Khalid University Hospital, Riyadh, Saudi Arabia, from July to December 2010. Methodology: Seventeen patients with -thalassemia major (12 females, median age 26 years) receiving deferasirox (DFX) for a median duration of 27 months were observed for any infections and had their immune status determined. Immune parameters studied included serum immunoglobulins and IgG subclasses, serum complement (C3 and C4) and anti-nuclear antibody (ANA) level, total B and T-lymphocytes, CD4+ and CD8+ counts, CD4+/CD8+ ratio, and natural killer (NK) cells. Immunological parameters of the patients were compared with age, gender, serum ferritin level and splenectomy status. Lymphocyte subsets were also compared with age and gender matched normal controls. Results: A considerable reduction in serum ferritin was achieved by DFX from a median level of 2528 to 1875 mol/l. Serum IgG levels were increased in 7 patients. Low C4 levels were found in 9 patients. Total B and T-lymphocytes were increased in 14 patients each, while CD4+, CD8+ and NK cells were increased in 13, 12 and 11 patients respectively. Absolute counts for all lymphocyte subsets were significantly higher compared to the normal controls (p=0.05 for all parameters). Raised levels of IgG were associated with older age, female gender, splenectomized status and higher serum ferritin levels but this did not reach statistical significance except for the higher ferritin levels (p=0.044). Increased tendency to infections was not observed. Conclusion: Patients with -thalassemia major receiving DFX exhibited significant immune abnormalities. Changes observed have been described previously, but could be related to DFX. The immune abnormalities were not associated with

  15. Plasma lipid pattern and red cell membrane structure in β-thalassemia patients in Jakarta

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    Seruni K.U. Freisleben

    2011-08-01

    Full Text Available Background: Over the last 10 years, we have investigated thalassemia patients in Jakarta to obtain a comprehensive picture of iron overload, oxidative stress, and cell damage.Methods: In blood samples from 15 transfusion-dependent patients (group T, 5 non-transfused patients (group N and 10 controls (group C, plasma lipids and lipoproteins, lipid-soluble vitamin E, malondialdehyde (MDA and thiol status were measured. Isolated eryhtrocyte membranes were investigated with electron paramagnetic resonance (EPR spectroscopy using doxyl-stearic acid and maleimido-proxyl spin lables. Data were analyzed statistically with ANOVA.Results: Plasma triglycerides were higher and cholesterol levels were lower in thalassemic patients compared to controls. Vitamin E, group C: 21.8 vs T: 6.2 μmol/L and reactive thiols (C: 144 vs. T: 61 μmol/L were considerably lower in transfused patients, who exert clear signs of oxidative stress (MDA, C: 1.96 vs T: 9.2 μmol/L and of tissue cell damage, i.e., high transaminases plasma levels. Non-transfused thalassemia patients have slight signs of oxidative stress, but no significant indication of cell damage. Erythrocyte membrane parameters from EPR spectroscopy differ considerably between all groups. In transfusion-dependent patients the structure of the erythrocyte membrane and the gradients of polarity and fluidity are destroyed in lipid domains; binding capacity of protein thiols in the membrane is lower and immobilized.Conclusion: In tranfusion-dependent thalassemic patients, plasma lipid pattern and oxidative stress are associated with structural damage of isolated erythrocyte membranes as measured by EPR spectroscopy with lipid and proteinthiol spin labels. (Med J Indones 2011; 20:178-84Keywords: electron paramagnetic resonance spectroscopy, erythrocyte membrane, lipoproteins, oxidative stress, thalassemia, plasma lipids.

  16. Survey on relation between Major Thalassemia and Desferiexamine with renal tubular damage.

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    H.M. Jafari, M.D.

    2007-01-01

    Full Text Available AbstractBackground and Purpose: Thalassemia is a hereditary quantitative hemoglubinopathy which is common in mediteranian area including IRAN. Homos zygotic thalassemia patients suffer from severe anemia and complication of the disease in many organs. Studies have shown different results about renal complication and disease. Thus, in this study we investigated renal function of thalassemia Major (TM patients in comparison with control group.Materials and Methods: This was a historical cohort Study. The population who TM patients was were admitted to Boalisina hospital, Sari, and control group were brothers and sisters of the patients who were matched in gender and age. Serum and urine markers of renal function were measured and demographic and therapeutic data were gathered from medical records. Analysis of the data was performed using SPSS 11 with statistical test (t, chi square.Results: the Total of 84 (42 patients and, 42 controls patients were studied. The Mean age of the patients was years. Dose of Deferral was 70±19 mg/kg. The results showed no significant statistical differences in levels of microglobulin, 24 urine protein, Excretion Fraction of Na and K between case and control group. There was significant differences in levels of serum BUN, creatinin, Potassium and urine potassium and creatinin between case and control group. Gender, level of Hb and serum Ferritin significantly affected the differences between two groups.Conclusion: In this study, evidences of renal tubular damage were not detected in TM patients. There was increase in levels of Bun, serum potassium, uric Acid, specially with sever anemia, high dose desferal and Iron over load.

  17. Impact of Burden of Thalassemia Major on Health-related Quality of Life in Omani Children.

    Science.gov (United States)

    Mevada, Surekha T; Al Saadoon, Muna; Zachariah, Mathew; Al Rawas, Abdul H; Wali, Yasser

    2016-07-01

    To improve treatment outcome in young patients with homozygous β-thalassemia, evaluation of factors associated with health-related quality of life (HRQoL) is essential to develop clinical, counseling, social, and school support programs. This study was performed to evaluate HRQoL in Omani children with thalassemia who have not been previously evaluated. All patients with thalassemia (5 to 18 y) on regular hypertransfusion from August 2013 to February 2014 were included. Demographic-clinical information was obtained from electronic patient records. The 23-item Pediatric Quality of Life Inventory (PedsQL) 4.0 with 4 multidimensional scales and 3 summary scores was used to assess HRQoL by both patients and caregivers. Statistical analysis was performed using SPSS version 19. Delayed age at diagnosis and delayed initiation of chelation were independently associated with a negative impact on total PedsQL scores; children with higher pretransfusion hemoglobin and lower serum ferritin levels scored better overall. Patients self-rated their HRQoL scores lower as compared with caregivers. Although physical health was more affected than psychosocial health function from both patients' (72.26±22.34 vs. 74.55±18.25) and caregivers' (69.91±19.86 vs. 78.83±18.45) perspective, school functioning domain (68.05±21.30 and 69.71±18.96) scored the lowest. Low ratings for physical health and school functioning highlight the importance of adequate transfusion together with the need for a multidisciplinary teamwork by health care providers, social workers, counselors, family members, and school authorities to provide psychosocial support to prevent mental issues and improve academic performance in these young patients. PMID:27164523

  18. 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.

  19. 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.

  20. Therapeutic hemoglobin levels after gene transfer in β-thalassemia mice and in hematopoietic cells of β-thalassemia and sickle cells disease patients.

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    Laura Breda

    Full Text Available 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 vitro and in thalassemic mice. We found that insertion of an ankyrin insulator leads to higher, potentially therapeutic levels of human β-globin through a novel mechanism that links the rate of transcription of the transgenic β-globin mRNA during erythroid differentiation with polysomal binding and efficient translation, as reported here for the first time. We also established a preclinical assay to test the ability of this novel vector to synthesize adult hemoglobin in erythroid precursors and in CD34(+ cells isolated from patients affected by β-thalassemia and SCD. Among the thalassemic patients, we identified a subset of specimens in which hemoglobin production can be achieved using fewer copies of the vector integrated than in others. In SCD specimens the treatment with AnkT9W ameliorates erythropoiesis by increasing adult hemoglobin (Hb A and concurrently reducing the sickling tetramer (Hb S.Our results suggest two major findings. First, we discovered that for the purpose of expressing the β-globin gene the ankyrin element is particularly suitable. Second, our analysis of a large group of specimens from β-thalassemic and SCD patients indicates that clinical trials could benefit from a simple test to predict the relationship between the number of vector copies integrated and the total amount of hemoglobin produced in the erythroid cells of prospective patients. This approach would provide vital information to select the best candidates for these

  1. Detection and analysis of thalassemia gene of the fetal amniotic fluid in baise city%广西百色市胎儿羊水地中海贫血基因检测分析

    Institute of Scientific and Technical Information of China (English)

    罗宏成; 王春芳; 向阳; 雷茗; 邓鹰; 韦叶生

    2015-01-01

    目的:运用分子杂交和基因芯片技术对百色市地中海贫血(简称“地贫”)孕妇进行羊水地贫基因检测,了解地贫胎儿的发病率及基因突变类型.方法:采用跨跃断裂点聚合酶链反应(gap-PCR)及膜-反向点杂交技术检测中国人常见的缺失型α-地中海贫血、突变型α-地中海贫血及β-地中海贫血.结果:检出单纯性α-地中海贫血145例(47.3%),中、重型α-地中海贫血52(36.2%),重型 Bart's 水肿胎儿16例(11.3%),中型血红蛋白 H 病(HbH)病36例(24.8%);单纯性β-地中海贫血103例(33.6%),β-地中海贫血中重型28例(27.2%);复合型αβ地中海贫血21例(6.8%);壮族人群α-地中海贫血发生率为56.6%,瑶族人群α-地中海贫血发生率为27.6%,汉族人群检出α-地中海贫血发生率为15.8%;壮族人群β-地中海贫血发生率为66.0%,瑶族人群β-地中海贫血发生率为21.4%,汉族人群β-地中海贫血发生率为12.6%.结论:百色地区胎儿羊水地贫基因检测阳性率较高,特别是中重型地中海贫血类型胎儿阳性率也很高;壮、瑶、汉各民族α-地中海贫血的发病率具有显著性差异(P <0.05),壮、瑶、汉各民族β-地中海贫血的发病率无统计学差异(P >0.05).对该地区孕育胎儿的夫妇应该进行产前地中海贫血基因筛查及孕育知识的长期指导.%Aim:Using the molecular hybridization and gene chip technology to detect the thalassemia gene of pregnant women with thalassemia in Baise city,to learn the incidence and mutation types of the Fetal with thalassemia.Methods:Using the gap Polymerase Chain Reaction(gap-PCR)and membrane-reverse dot hybridization technique to detect the lack of Chinese common type of alpha thalassaemia,the mutant of alpha thalassaemia and beta thalassaemia.Results:One hundred and forty-five cases were di-agnosed with

  2. 广西百色市胎儿羊水地中海贫血基因检测分析%Detection and analysis of thalassemia gene of the fetal amniotic fluid in baise city

    Institute of Scientific and Technical Information of China (English)

    罗宏成; 王春芳; 向阳; 雷茗; 邓鹰; 韦叶生

    2015-01-01

    目的:运用分子杂交和基因芯片技术对百色市地中海贫血(简称“地贫”)孕妇进行羊水地贫基因检测,了解地贫胎儿的发病率及基因突变类型.方法:采用跨跃断裂点聚合酶链反应(gap-PCR)及膜-反向点杂交技术检测中国人常见的缺失型α-地中海贫血、突变型α-地中海贫血及β-地中海贫血.结果:检出单纯性α-地中海贫血145例(47.3%),中、重型α-地中海贫血52(36.2%),重型 Bart's 水肿胎儿16例(11.3%),中型血红蛋白 H 病(HbH)病36例(24.8%);单纯性β-地中海贫血103例(33.6%),β-地中海贫血中重型28例(27.2%);复合型αβ地中海贫血21例(6.8%);壮族人群α-地中海贫血发生率为56.6%,瑶族人群α-地中海贫血发生率为27.6%,汉族人群检出α-地中海贫血发生率为15.8%;壮族人群β-地中海贫血发生率为66.0%,瑶族人群β-地中海贫血发生率为21.4%,汉族人群β-地中海贫血发生率为12.6%.结论:百色地区胎儿羊水地贫基因检测阳性率较高,特别是中重型地中海贫血类型胎儿阳性率也很高;壮、瑶、汉各民族α-地中海贫血的发病率具有显著性差异(P <0.05),壮、瑶、汉各民族β-地中海贫血的发病率无统计学差异(P >0.05).对该地区孕育胎儿的夫妇应该进行产前地中海贫血基因筛查及孕育知识的长期指导.%Aim:Using the molecular hybridization and gene chip technology to detect the thalassemia gene of pregnant women with thalassemia in Baise city,to learn the incidence and mutation types of the Fetal with thalassemia.Methods:Using the gap Polymerase Chain Reaction(gap-PCR)and membrane-reverse dot hybridization technique to detect the lack of Chinese common type of alpha thalassaemia,the mutant of alpha thalassaemia and beta thalassaemia.Results:One hundred and forty-five cases were di-agnosed with

  3. Satellite altimeter remote sensing of ice caps

    OpenAIRE

    Rinne, Eero Juhani

    2011-01-01

    This thesis investigates the use of satellite altimetry techniques for measuring surface elevation changes of ice caps. Two satellite altimeters, Radar Altimeter 2 (RA-2) and Geoscience Laser Altimeter System (GLAS) are used to assess the surface elevation changes of three Arctic ice caps. This is the first time the RA-2 has been used to assess the elevation changes of ice caps - targets much smaller than the ice sheets which are the instrument’s primary land ice targets. Algor...

  4. Study on Efficacy of Hepatitis B Immunization in Vaccinated Beta-Thalassemia Children in Tehran

    OpenAIRE

    Mahmood Mahmoodian Shooshtari; Saeideh Milani; Zohreh Sharifi

    2010-01-01

    Objective:In thalassemic children, HBV infection is common, thus immunization against HBV will reduce and prevent the rate of infection. The aim of this study was to evaluate the efficacy of HBV immunization and the prevalence of HBV infection in beta-thalassemic children in Tehran. Methods:To assess the efficacy of immunization and determine the immune response of children with beta-thalassemia, sera of 99 children who had received three doses (10/20 μg) of recombinant HBV vaccine in mont...

  5. Clinical monitoring and management of complications related to chelation therapy in patients with β-thalassemia.

    Science.gov (United States)

    Saliba, Antoine N; El Rassi, Fuad; Taher, Ali T

    2016-01-01

    Iron chelating agents - deferoxamine (DFO), deferiprone (DFP), and deferasirox (DFX) - are used to treat chronic iron overload in patients with β-thalassemia in an attempt to reduce morbidity and mortality related to siderosis. Each of the approved iron chelating agents has its own advantages over the others and also has its own risks, whether related to over-chelation or not. In this review, we briefly discuss the methods to monitor the efficacy of iron chelation therapy (ICT) and the evidence behind the use of each iron chelating agent. We also portray the risks and complications associated with each iron chelating agent and recommend strategies to manage adverse events. PMID:26613264

  6. PET CT imaging in extramedullary hematopoiesis and lung cancer surprise in a case with thalassemia intermedia

    Directory of Open Access Journals (Sweden)

    Semra Paydaş

    2011-03-01

    Full Text Available Extramedullary hematopoiesis (EMH is the production of hematopoietic precursors outside the bone marrow cavity, and it causes mass effects according to its localization. Magnetic resonance imaging (MRI and/or computed tomography (CT scans are used most commonly to detect EMH foci. We report herein a case with thalassemia intermedia causing paravertebral mass associated with EMH detected by CT scan. We further evaluated the case with positron emission tomography (PET CT, and lung cancer, which was not revealed in the CT scan, was detected coincidentally.

  7. Effect of pregnancy on differentiation of minor Beta-Thalassemia from iron deficiency

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    Ghanei M

    1997-07-01

    Full Text Available Differential diagnosis of Iron-deficiency anemia and Beta-Thalassemia, two common causes of anemia, affects the treatment in pregnant women. To help the diagnosis, we have tried to asses the pure effect of gestation on diagnostic criteria, eliminating iron and folate deficiency. In a prospective study, 46 thalassemic women were given Ferrous Sulphate tablets and Folate. Some indices, CBC and HbA2 were measured before and after treatment during pregnancy. The haemoglobin and HbA2 decreased and MCV increased, all with significant P value. We concluded that HbA2, independent of iron, will decrease during pregnancy and MCV will increase

  8. Genetic Correction of Sickle Cell Anemia and β-Thalassemia: Progress and New Perspective

    OpenAIRE

    Ajay Perumbeti; Punam Malik

    2010-01-01

    Gene therapy for β-globinopathies, particularly β-thalassemia and sickle cell anemia, holds promise for the future as a definitive corrective approach for these common and debilitating disorders. Correction of the β-globinopathies using lentivirus vectors carrying the β- or γ-globin genes and elements of the locus control region has now been well established in murine models, and an understanding of "what is required to cure these diseases" has been developed in the first decade of the 21st c...

  9. A novel δ-globin gene mutation (HBD: c.323G>A) masking the diagnosis of β-thalassemia: a first report from India.

    Science.gov (United States)

    Jain, Sachin; Edison, Eunice S; Mathews, Vikram; Shaji, R V

    2012-05-01

    An elevated HbA(2) (α2δ2) level (>3.5%) is a well-established diagnostic test for heterozygous β-thalassemia. Mutations in the δ-globin gene can cause decreased expression of HbA(2), resulting in heterozygous β-thalassemia with normal levels of HbA(2). In this report, we describe a novel missense mutation in δ-globin (HBD: c.323G>A, Gly > Asp) in an Indian family with heterozygous β-thalassemia with normal HbA(2) levels. PMID:22477537

  10. Synthesis, Characterization, and Tribological Behavior of Oleic Acid Capped Graphene Oxide

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    Tiedan Chen

    2014-01-01

    Full Text Available Graphene oxide (GO nanosheets were prepared by modified Hummers and Offeman methods. Furthermore, oleic acid (OA capped graphene oxide (OACGO nanosheets were prepared and characterized by means of Fourier transform-infrared spectroscopy (FT-IR, transmission electron microscopy (TEM, and X-ray diffraction (XRD. At the same time, the friction and wear properties of OA capped graphite powder (OACG, OACGO, and oleic acid capped precipitate of graphite (OACPG as additives in poly-alpha-olefin (PAO were compared using four-ball tester and SRV-1 reciprocating ball-on-disc friction and wear tester. By the addition of OACGO to PAO, the antiwear ability was improved and the friction coefficient was decreased. Also, the tribological mechanism of the GO was investigated.

  11. Evolution of a genetic disease in an ethnic isolate: β-Thalassemia in the Jews of Kurdistan

    International Nuclear Information System (INIS)

    β-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the β-globin gene. Specific populations generally carry a small number of mutations, the most common of which are those that are widely distributed regionally. The present study constitutes an extensive molecular characterization of this disease in a small, highly inbred ethnic group with a high incidence of β-thalassemia-the Jews of Kurdistan. An unusual mutational diversity was observed. In 42 sibships 13 different mutations were identified, of which 3 are newly discovered. Four of the mutations are unique to Kurdish Jews and have not been discovered in any other population. A fifth was found outside Kurdish Jews only in an Iranian from Khuzistan, a region bordering Kurdistan. Two-thirds of the mutant chromosomes carry the mutations unique to Kurdish Jews. The authors traced the origin of the mutations to specific geographic regions within Kurdistan. This information, supported by haplotype analysis, suggests that thalassemia in central Kurdistan (northern Iraq) has evolved primarily from multiple mutational events. They conclude that several evolutionary mechanisms contributed to the evolution of β-thalassemia in this small ethnic isolate

  12. Study of the effect of iron overload on the function of endocrine glands in male thalassemia patients

    Directory of Open Access Journals (Sweden)

    Abdulzahra Mohammed

    2011-01-01

    Full Text Available Background: Iron overload is an important issue in the state of thalassemic patients due to the harmful effect of high concentration of iron deposited in different tissues in human body including endocrine glands. In the present work, an attempt is carried out to estimate the effect of iron overload in thalassemic patients on the function of endocrine glands through the estimation of their ability to secrete adequate amounts of certain hormones. Materials and Methods: Seventy eight male children with beta-thalassemia, in the age-group of 4-11 years, were enrolled for this research. These children were being treated with frequent transfusions and long-term iron chelation therapy. Thirty age and sex matched children without thalassemia constituted the control group. Ferritin and different hormones were estimated by ELISA technique. Results: The results showed a mild reduction in the function of endocrine glands through the decrease in the level of some hormones. These changes due mainly to the hypoxia and precipitation of iron in certain glands and overlapping with the synthesis or secretion of the hormones. Conclusion: There is a different hormonal disturbances in beta thalassemia patients. Reduction of total body iron store is an important goal of the treatment of thalassemia and measuring the hormones concentration is necessary for the follow up of the thalassemic patients especially during puberty.

  13. Relation between Children's Well-Being and Family Function in Children with Thalassemia Major in Isfahan in 2013.

    Science.gov (United States)

    Keshvari, Mahrokh; Ebrahimi, Ahmad; Abedi, Heidarali

    2016-01-01

    The function of every family has a significant impact on the health of its members. Thalassemia is a chronic disease and, as the most common genetic disorder in the world, affects different aspects of life, including emotional well-being. The purpose of this study was to determine the relationship between well-being in children with a Thalassemia major and the function of their families, in Isfahan, Iran, in 2013. This was a cross sectional study and census sampling was used to collect the data. The study sample consisted of 97 children with thalassemia at the age of 10-16 years who referred to the clinic of Imam Reza, Seyed-al-Shohada Hospital in Isfahan. The subjects were evaluated using the Adolescent Psychological Wellbeing Scale and Family Functioning Questionnaire. Data were analyzed using SPSS software. The Pearson correlation coefficient showed that there was a reverse relationship between the overall score of family functioning and illness score of children with thalassemia (r=-0.377, Pstrengthening of family planning and implementation of projects in this regard is also necessary. PMID:27357888

  14. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies.

    NARCIS (Netherlands)

    G.P. Patrinos (George); B. Giardine (Belinda); C. Riemer (Cathy); W. Miller (Webb); D.H. Chui (David); N.P. Anagnou (Nicholas); H. Wajcman (Henri); R.C. Hardison (Ross)

    2004-01-01

    textabstractHbVar (http://globin.cse.psu.edu/globin/hbvar/) is a relational database developed by a multi-center academic effort to provide up-to-date and high quality information on the genomic sequence changes leading to hemoglobin variants and all types of thalassemia and hemogl

  15. Resveratrol: Antioxidant activity and induction of fetal hemoglobin in erythroid cells from normal donors and β-thalassemia patients.

    Science.gov (United States)

    Fibach, Eitan; Prus, Eugenia; Bianchi, Nicoletta; Zuccato, Cristina; Breveglieri, Giulia; Salvatori, Francesca; Finotti, Alessia; Lipucci di Paola, Michele; Brognara, Eleonora; Lampronti, Ilaria; Borgatti, Monica; Gambari, Roberto

    2012-06-01

    Thalassemia and sickle-cell anemia (SCA) present a major public health problem in countries where the number of carriers and affected individuals is high. As a result of the abnormalities in hemoglobin production, cells of thalassemia and SCA patients exhibit oxidative stress, which ultimately is responsible for the chronic anemia observed. Therefore, identification of compounds exhibiting both antioxidant and hemoglobin-inducing activities is highly needed. Our results demonstrate resveratrol to be such a compound. This was shown both in the human K562 cell line, as well as in erythroid precursors derived from normal donors and β-thalassemia patients. Resveratrol was shown to exhibit antioxidant activity and to stimulate the expression of the γ-globin genes and the accumulation of fetal hemoglobin (HbF). To the best of our knowledge, this is the first report pointing to such a double effect of resveratrol. Since this natural product is already marketed as an antioxidant, future investigations should concentrate on demonstrating its potential to augment HbF production in experimental animal models (e.g., thalassemia and SCA mice) as well as in patients. We believe that the potential of clinical use of resveratrol as an antioxidant and HbF stimulator may offer a simple and inexpensive treatment to patients.

  16. Quantification of Myocardial Extracellular Volume Fraction with Cardiac MR Imaging in Thalassemia Major.

    Science.gov (United States)

    Hanneman, Kate; Nguyen, Elsie T; Thavendiranathan, Paaladinesh; Ward, Richard; Greiser, Andreas; Jolly, Marie-Pierre; Butany, Jagdish; Yang, Issac Y; Sussman, Marshall S; Wintersperger, Bernd J

    2016-06-01

    Purpose To quantify myocardial extracellular volume (ECV) by using cardiac magnetic resonance (MR) imaging in thalassemia major and to investigate the relationship between ECV and myocardial iron overload. Materials and Methods With institutional review board approval and informed consent, 30 patients with thalassemia major (mean age ± standard deviation, 34.6 years ± 9.5) and 10 healthy control subjects (mean age, 31.5 years ± 4.4) were prospectively recruited (clinicaltrials.gov identification number NCT02090699). Nineteen patients (63.3%) had prior myocardial iron overload (defined as midseptal T2* tracking was assessed with same-day transthoracic echocardiography. Statistical analysis included use of the two-sample t test, Fisher exact test, and Spearman correlation. Results Unenhanced T1 values were significantly lower in patients with prior myocardial iron overload than in control subjects (850.3 ± 115.1 vs 1006.3 ± 35.4, P Online supplemental material is available for this article. PMID:26653680

  17. 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.

  18. Iron overload in non-transfusion-dependent thalassemia: association with genotype and clinical risk factors.

    Science.gov (United States)

    Tantiworawit, Adisak; Charoenkwan, Pimlak; Hantrakool, Sasinee; Choeyprasert, Worawut; Sivasomboon, Chate; Sanguansermsri, Torpong

    2016-06-01

    In the present study, we sought to determine the prevalence of iron overload in patients with non-transfusion-dependent thalassemia (NTDT) and its association with genotype and other clinical risk factors, and to evaluate the correlation between serum ferritin (SF) and liver iron concentration (LIC). Myocardial and liver iron concentration was measured by MRI using a T2* gradient multi-echo sequence in NTDT patients, aged 10-50 years. Of 91 patients, 54 (59 %) had hepatic iron overload. None had cardiac iron overload. The clinical risk factors for hepatic iron overload were age >20 years (adjusted OR 30.2, 95 % CI 4.5-203, p 10 units (adjusted OR 53.6, 95 % CI 3.2-884, p = 0.005). Beta-thalassemia genotype was associated with higher risk of iron overload by univariate analysis, but the association was not significant when adjusted for other clinical factors. The correlation coefficient between SF and LIC was 0.60 (p < 0.001). In conclusion, the prevalence of hepatic iron overload is high in NTDT. Older age, lower hemoglobin level, and higher cumulative RBC transfusion are significant risk factors. SF and LIC show a significant positive correlation. PMID:27052211

  19. Insulin-like growth factor- I and factors affecting it in thalassemia major

    Directory of Open Access Journals (Sweden)

    Ashraf T Soliman

    2015-01-01

    Full Text Available Despite improvement of blood transfusion regimens and iron chelation therapy growth and maturational delay, cardiomyopathy, endocrinopathies and osteoporosis still occur in good number of thalassemic patients. Decreased IGF-1 secretion occurs in the majority of the thalassemic patients particularly those with growth and pubertal delay. Many factors contribute to this decreased synthesis of IGF-I including disturbed growth hormone (GH - insulin-like growth factor - I (IGF-I axis. The possible factors contributing to low IGF-I synthesis in thalassemia and the possible interaction between low IGF-I secretion and the occurrence of these complications is discussed in this mini-review. Improvement of IGF-I secretion in thalassemic patients should be intended to improve linear growth and bone mineral accretion in thalassemic patients. This can be attained through adequate correction of anemia and proper chelation, nutritional supplementation (increasing caloric intake, correction of vitamin D and zinc deficiencies, induction of puberty and correction of hypogonadism at the proper time and treating GH deficiency. This review paper provides a summary of the current state of knowledge regarding IGF-I and factors affecting it in patients with thalassaemia major (TM. Search on PubMed and reference lists of articles with the term ′IGF-I, GH, growth, thalassemia, thyroxine, anemia, vitamin D, and zinc′ was carried out. A hundred and forty-eight articles were found and used in the write up and the data analyzed was included in this report.

  20. Serum bleomycin-detectable iron in patients with thalassemia major with normal range of serum iron.

    Directory of Open Access Journals (Sweden)

    Han,Khin Ei

    1995-06-01

    Full Text Available "Free" iron, a potentially radical-generating low mass iron, and not found in normal human blood, was increased in the serum of blood-transfused thalassemia major patients seen in the Yangon General Hospital, Yangon, Myanmar (Burma. The low mass iron was detected by the bleomycin assay. Fifty-one blood samples were analyzed (from 28 males and 23 females. High "free" iron was detected in 47 sera samples from thalassemia patients. Serum ferritin, which reflects the body store iron, was higher than the normal range (10-200 ng/ml in 49 patients. On the other hand, serum iron of 39 sera samples fell within the normal range (50-150 micrograms/dl. Four were less than 50 micrograms/dl and eight were more than 150 micrograms/dl. Almost all the patients' sera of normal or higher serum iron level contained "free" iron. Thus, almost all the sera from thalassemic patients from Myanmar contain bleomycin-detectable iron, even when serum iron is within the normal range. In developing countries where undernutrition is prevalent (serum albumin in these patients was 3.6 +/- 0.4 g/dl, P < 0.0001 vs. control value of 4.0 - 4.8 g/dl, normal serum iron does not preclude the presence of free iron in the serum.

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

    Directory of Open Access Journals (Sweden)

    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.

  2. Mutation Spectrum of β-Thalassemia and Other Hemoglobinopathies in Chittagong, Southeast Bangladesh.

    Science.gov (United States)

    Chatterjee, Tridip; Chakravarty, Amit; Chakravarty, Sudipa; Chowdhury, Mahmood Ahmed; Sultana, Razia

    2015-01-01

    Thalassemia is one of the most common autosomal recessive blood disorders in the world. It shows a variety of clinical expression, starting from asymptomatic to severe blood transfusion dependence. More than 500 alleles have been characterized in or around the β-globin region. Moreover, most geographical regions have their own characteristics, frequency and availability of these alleles, predominantly circulating within the communities present in that particular region. In this study, we explored the spectrum of β-thalassemia (β-thal) alleles present in Chittagong, Southeast Bangladesh. This study comprises β-thal and Hb E (HBB: c.79 G > A) patients from in and around the area of Chittagong. Not only exploring the complete β-globin mutation spectrum of the area, but we also tried to look at the origin of the mutated alleles. The β-thal mutations of Bangladesh show a relatively wide spectrum of alleles, which further demonstrates the heterogeneity of the disease in this country. Although our study showed that the majority of the mutations have their origin in neighboring countries such as India, countries of Southeast Asia, Pakistan, etc., some unusual alleles do not originate in neighboring countries and put a little more diversity in the overall spectrum of β-thal-specific alleles. Overall, this study demonstrates the mutation spectrum related to β-thal in Chittagong, Southeast Bangladesh.

  3. The therapeutic potential of genome editing for β-thalassemia [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Astrid Glaser

    2015-12-01

    Full Text Available The rapid advances in the field of genome editing using targeted endonucleases have called considerable attention to the potential of this technology for human gene therapy. Targeted correction of disease-causing mutations could ensure lifelong, tissue-specific expression of the relevant gene, thereby alleviating or resolving a specific disease phenotype. In this review, we aim to explore the potential of this technology for the therapy of β-thalassemia. This blood disorder is caused by mutations in the gene encoding the β-globin chain of hemoglobin, leading to severe anemia in affected patients. Curative allogeneic bone marrow transplantation is available only to a small subset of patients, leaving the majority of patients dependent on regular blood transfusions and iron chelation therapy. The transfer of gene-corrected autologous hematopoietic stem cells could provide a therapeutic alternative, as recent results from gene therapy trials using a lentiviral gene addition approach have demonstrated. Genome editing has the potential to further advance this approach as it eliminates the need for semi-randomly integrating viral vectors and their associated risk of insertional mutagenesis. In the following pages we will highlight the advantages and risks of genome editing compared to standard therapy for β-thalassemia and elaborate on lessons learned from recent gene therapy trials.

  4. Oral Health and Dentofacial Anomalies among β-THALASSEMIA Major in Erbil City, Iraq

    Science.gov (United States)

    Saeed, Lamya M.; Majeed, Vian O.

    2010-04-01

    Thalassemias are a heterogeneous group of genetic disorders characterized by hypochromic microcytic anemia that caused by deficient synthesis of one or more of globin subunits of human hemoglobin. This study has been conducted in the Northern part of Iraq among 238 subjects having β-thalassemia major (BTM). To evaluate their oral health status, dentofacial anomalies of patients who attended the Thalassemic center in Erbil city, were compared to 258 subjects of a control group according to the criteria suggested by the WHO in 1997, which is used to assess permanent teeth. Only 8.51% of the total study group demonstrated crowding of anterior teeth in one or both segments compared to the control group. Spacing in the incisal segments was higher, namely 19.23% in BTM compared to13.6% in the control group with a statistically significant difference (pindices were recorded to be higher among the study group (plaque index = 1.570, ∓0.321 and gingival index = 1.205, ∓0.308). Differences were statistically highly significant for all indices (pindicate that there is a negative attitude and poor dental knowledge of thalassemic subjects and their parents toward proper oral hygiene and dental health.

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

    Directory of Open Access Journals (Sweden)

    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.

  6. A monozygotic twin pair with β-thalassemia carrier status in a Dudh Kharia tribal family of Orissa

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    Balgir R

    2007-01-01

    Full Text Available Background: The β -thalassemia syndrome is a genetically inherited commonly encountered hematological disorder in the state of Orissa. It causes high degree of morbidity, mortality and fetal wastage in the poor vulnerable people. Aims and Objectives: There is an equal probability (50% chance in every singleton pregnancy that a carrier parent of β -thalassemia major would either bear normal or carrier offspring, but not two offspring with carrier of β -thalassemia major genotype together. For the first time, a carrier parent of β -thalassemia major gene has born progeny (three daughters and a twin male offspring with a carrier status of β -thalassemia major in Dudh Kharia tribal family studied from Sundargarh district of Orissa. Materials and Methods: We screened randomly selected population of Dudh Kharia tribe from Sundargarh district of Orissa for hemoglobinopathies to assess the extent of the problem, design possible interventions and provide genetic counseling to them. A family with twin children was identified during screening in Lata Gaon in Bargaon block of Sundargarh district of Orissa for the above-mentioned study. Background information for this family such as name, age, sex, tribe, native place, reproductive history, family pedigree and clinical signs and symptoms were also recorded. Standardized genetic and hematological procedures and techniques were followed for analysis. Results: Laboratory investigations for alkaline electrophoresis of blood lysate on cellulose acetate membrane showed raised hemoglobin A 2 level in mother (Hb A 2 = 5.3%, in three daughters (Hb A 2 =6.5, 5.9, 5.5% in chronological and birth order, in two twin sons (Hb A 2 =5.9% and 6.0% and normal (Hb A 2 = 3.3% for father. Hence, all the children i.e., three daughters and two twin sons, including the mother were β -thalassemia carriers. Since all the hematological parameters i.e., red cell indices, G-6-PD enzyme activity, ABO and Rhesus blood groups and

  7. Nature mangement, landscape and the CAP

    NARCIS (Netherlands)

    Brouwer, F.M.; Godeschalk, F.E.

    2004-01-01

    The integration of nature management, landscape and environmental concerns into the Common Agricultural Policy (CAP) has gained momentum with the CAP reforms adopted in June 2003. The report explores instruments and approaches that contribute to the inte-gration of nature conservation and landscape

  8. Microtubule dynamics: Caps, catastrophes, and coupled hydrolysis

    DEFF Research Database (Denmark)

    Flyvbjerg, H.; Holy, T.E.; Leibler, S.

    1996-01-01

    An effective theory is formulated for the dynamics of the guanosine triphosphate (GTP) cap believed to stabilize growing microtubules. The theory provides a ''coarse-grained'' description of the cap's dynamics. ''Microscopic'' details, such as the microtubule lattice structure and the fate of its...... data. A constant nonzero catastrophe rare, identical for both microtubule ends, is predicted at large growth rates. The delay time for dilution-induced catastrophes is stochastic with a simple distribution that fits the experimental one and, like the experimental one, does not depend on the rate of....... A recent experimental result for the size of the minimal cap that can stabilize a microtubule is shown to agree with the result predicted by the cap model, after its parameters have been extracted from previous experimental results. Thus the effective theory and cap model presented here provide a...

  9. Respiratory burst enzymes, pro-oxidants and antioxidants status in Bangladeshi population with β-thalassemia major

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    Md. Faruk Hossain

    2015-01-01

    Full Text Available Background: Oxidative stress is intimately associated with many diseases, including β-thalassemia. Aim: The study was to estimate the status of respiratory burst enzymes, pro-oxidants, and antioxidants in β-thalassemia major patients in Bangladesh and to compare with apparently healthy individuals. Materials and Methods: A total of 49 subjects were recruited which included 25 patients (age range 5 to 40 years with β-thalassemia major and 24 controls (age and sex matched. Superoxide dismutase (SOD and catalase (CAT represented respiratory burst enzymes; malondialdehyde (MDA, lipid hydroperoxide (LHP, and xanthine oxidase (XO were measured as pro-oxidants; and glutathione S transferase (GST, vitamin C (Vit.C, and glutathione (GSH were the measured antioxidants. Results: The activity of SOD was significantly (P < 0.001 increased by about 79% and the activity of CAT was significantly (P < 0.001 decreased by more than 34% in the blood of β-thalassemia major patients compared to the control group. The content of pro-oxidants such as MDA, LHP, and XO was significantly (P < 0.001 higher in patients by about 228%, 241.3% and 148.1% respectively compared to control group. The level of GSH and Vit.C were significantly (P = 0.000 decreased in patients by about 59% and 81% versus the healthy group, respectively; and GST activity was significantly (P < 0.001 declined by 44.25% in patients group. Conclusion: β-thalassemia major patients demonstrate raised oxidative stress compared to healthy subjects.

  10. Low Dose Ribavirin for Treatment of Hepatitis C Virus Infected Thalassemia Major Patients; New Indications for Combination Therapy

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    Farhad Zamani

    2012-06-01

    Full Text Available Background: Treatment guidelines contraindicate ribavirin for treatment of hepatitis C virus (HCV infection in thalassemia major patients. Nevertheless, the current evidence suggests that ribavirin might be tolerated by these patients.Objectives: Despite this evidence, low dose ribavirin combination therapy has not been compared with peg interferon monotherapy in these patients so far.Patients and Methods: Two hundred eighty thalassemia patients with detectable HCV-RNA PCR (≥ 50 IU/mL and liver histology consistent with chronic HCV infection were self-assigned to receive peg interferon alfa-2a (n = 81 monotherapy or its combination therapy with ribavirin, 600-800 mg QD, according to hemoglobin levels (n = 199. Treatment experienced patients were eligible for this study.Results: Sustained virological response (SVR was significantly higher in patients who received ribavirin (51 % vs. 38 % P = 0.02. In multivariate regression, OR of ribavirin for prediction of SVR was 2.2 (95 % CI 1.24-3.91. The SVR was significantly higher in the ribavirin group in subgroups of patients with more than 24 years of age, elevated ALT, ferritin < 2006 ng/mL, previous treatment failure, genotype 1, positive history of splenectomy, fibrosis score of 0-4 HAI and viral load < 600,000 IU/mL. Treatment discontinuations due to the safety concerns were comparable between the treatment groups (6.5 and 8 %. Furthermore, transfusion intervals were almost halved in patients who received low dose ribavirin.Conclusions: According to the present study, adult thalassemia patients with HCV infection can be treated successfully with low dose ribavirin. Hence, we strongly advise combination therapy in thalassemia patients with aforementioned clinical characteristics. Moreover, ribavirin does not seem to be beneficial in thalassemia patients below 18 years of age.

  11. 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.

  12. Hematological and Immunological Studies on the Effect of Hepatitis B Virus Vaccination in Hepatitis and Non-Hepatitis, Iron Chelating Dependent or Independent Egyptian Thalassemia Patients

    OpenAIRE

    Eman G. Helal*, Ali F.M. El-Sayed**, Noran Abu- Ouf* , Nahla G. Mohamed** and Mona A.M. Ahmed

    2013-01-01

    Background: Regular transfusion in thalassemia major patients increases life expectancy and improves quality of life. Blood transfusion is the main sources for viral transmission to Thalassemia patients. So, detection of viral antigens using more than one technique must be adopted. Iron and its binding proteins have immune regulatory properties and shifting of immune regulatory balance by iron excess or deficiency may produce severe deleterious physiological effects. Thus, the aim of this stu...

  13. A holistic approach to education programs in thalassemia for a multi-ethnic population: consideration of perspectives, attitudes, and perceived needs.

    Science.gov (United States)

    Wong, Li Ping; George, Elizabeth; Tan, Jin-Ai Mary Anne

    2011-06-01

    Hemoglobin disorders which include thalassemias are the most common heritable disorders. Effective treatment is available, and these disorders can be avoided as identification of carriers is achievable using simple hematological tests. An in-depth understanding of the awareness, attitudes, perceptions, and screening reservations towards thalassemia is necessary, as Malaysia has a multi-ethnic population with different religious beliefs. A total of 13 focus group discussions (70 participants) with members of the general lay public were conducted between November 2008 and January 2009. Lack of knowledge and understanding about thalassemia leads to general confusions over differences between thalassemia carriers and thalassemia major, inheritance patterns, and the physical and psychologically impact of the disorder in affected individuals and their families. Although most of the participants have not been tested for thalassemia, a large majority expressed willingness to be screened. Views on prenatal diagnosis and termination of fetuses with thalassemia major received mixed opinions from participants with different religions and practices. Perceived stigma and discrimination attached to being a carrier emerged as a vital topic in some group discussions where disparity in the answers exhibited differences in levels of participants' literacy and ethnic origins. The two most common needs identified from the discussion were information and screening facilities. Participants' interest in knowing the severity of the disease and assessing their risk of getting the disorder may imply the health belief model as a possible means of predicting thalassemia public screening services. Findings provide valuable insights for the development of more effective educational, screening, and prenatal diagnostic services in the multi-ethnic Asian society.

  14. Genetic ablation of root cap cells in Arabidopsis

    OpenAIRE

    Tsugeki, Ryuji; Fedoroff, Nina V.

    1999-01-01

    The root cap is increasingly appreciated as a complex and dynamic plant organ. Root caps sense and transmit environmental signals, synthesize and secrete small molecules and macromolecules, and in some species shed metabolically active cells. However, it is not known whether root caps are essential for normal shoot and root development. We report the identification of a root cap-specific promoter and describe its use to genetically ablate root caps by directing root cap-specific expression of...

  15. CAPS and INMS Major Accomplishments

    Science.gov (United States)

    Waite, J. Hunter

    2014-05-01

    The Cassini-Huygens Ion Neutral Mass Spectrometer (Cassini INMS) and the Cassini Plasma Spectrometer (CAPS) have provided "discovery" science at Titan, Enceladus, Rhea/Dione, and throughout the magnetosphere of Saturn during the course of the mission. In this talk we will review some of the major scientific achievements: 1) the discovery of an extremely complex ion neutral organic chemistry in Titan's upper atmosphere that forms the building blocks for aerosol processes below, 2) the discovery of gases and grains emanating from Enceladus' cryo-geysers that tell us about chemical processes in an interior sea, 3) the first direct compositional measurements of sputtered icy moon surfaces, 4) the clearest example to date of the complex plasma interchange processes that occur in rapidly rotating magnetospheres of gas giants, initiating global dynamic processes that enable Saturn to shed the plasma from Enceladus' plume, and complete with a myriad of longitudinal and solar local-time variations, and 5) the dominance of Enceladus water outgassing as a source of magnetospheric plasma that stretches out to Titan and provides oxygen that can convert Titan's rich nitrile populations into amino acids.

  16. Molecular characterization of β-thalassemia in four communities in South Gujarat--codon 30 (G → A) a predominant mutation in the Kachhiya Patel community.

    Science.gov (United States)

    Bhukhanvala, Dipal S; Italia, Khushnooma; Sawant, Pratibha; Colah, Roshan; Ghosh, Kanjaksha; Gupte, Snehalata C

    2013-11-01

    Different thalassemia mutations have been reported in various ethnic groups and geographical regions in India. In this study, we have investigated Kachhiya Patel, Dhodia Patel, Modh Bania, and Muslim communities of Surat, Gujarat to identify molecular defects causing β-thalassemia in them. Covalent reverse dot blot hybridization technique was used to detect six common Indian β-thalassemia mutations while the seventh mutation (619-bp deletion) was identified by PCR. The less common mutations were detected by amplification refractory mutation and the uncharacterized samples were directly sequenced. Characterization of β-thalassemia mutations was carried out in a total of 175 unrelated β-thalassemia trait cases. We identified IVS 1 nt 5 (G → C) in 31 out of 65 Muslims, codon (Cd) 41/42 (-CTTT) in 14 out of 16 in Modh Banias, Cd 15 (G → A) in 19 out of 24 Dhodia Patels. The most significant observation was an uncommon mutation; Cd 30 (G → A) detected in 61 out of 70 Kachhiya Patels. The 619-bp deletion was detected in 6 out of 10 Muslim-Memons. Many other rare mutations like Cd 15 (-T), Cd 8 (-AA), -88 (C → A), Capsite +1 (A → C), Cd 16(-C), and Cd 5 (-CT) were detected. To our knowledge, our study is the first to characterize β-thalassemia mutations in the Kachhiya Patel community. This study will facilitate molecular analysis and prenatal diagnosis in these four communities.

  17. Ab initio alpha-alpha scattering

    CERN Document Server

    Elhatisari, Serdar; Rupak, Gautam; Epelbaum, Evgeny; Krebs, Hermann; Lähde, Timo A; Luu, Thomas; Meißner, Ulf-G

    2015-01-01

    Processes involving alpha particles and alpha-like nuclei comprise a major part of stellar nucleosynthesis and hypothesized mechanisms for thermonuclear supernovae. In an effort towards understanding alpha processes from first principles, we describe in this letter the first ab initio calculation of alpha-alpha scattering. We use lattice effective field theory to describe the low-energy interactions of nucleons and apply a technique called the adiabatic projection method to reduce the eight-body system to an effective two-cluster system. We find good agreement between lattice results and experimental phase shifts for S-wave and D-wave scattering. The computational scaling with particle number suggests that alpha processes involving heavier nuclei are also within reach in the near future.

  18. Psychological Aspects in Young Adults with Beta-Thalassemia Major, control group

    Directory of Open Access Journals (Sweden)

    S. H. Hosseini, M.D.

    2007-09-01

    Full Text Available Background and purpose: Beta-thalassemia major (TM, a chronic, genetically determined hematological disorder, has received little investigation on the psychological aspects of the disease and the psychosocial adjustment of patients with this anemia. In the present study, the aim was to explore the nature of psychopathology according to age, sex, school performance, severity and complications of the disease in TM patients compared with demographically matched healthy persons.Materials and Methods: A controlled anterograde cohort study was conducted at the Thalassemia Unit of Boo-Ali Hospital from June 2003 to November 2005 in Sari, Iran. Psychological aspects were evaluated by the Persian version of symptoms checklist-90-revised questionnaire. Information on relevant demographic characteristics, school performance, severity and complications of the disease was collected by one of the investigators who had created the questionnaire.Results: 125 persons with TM completed the questionnaires and were compared with 125 controls and 250 totally. The mean age of the participants was 18.51± 2.0 years and with a range of 15-25 years. 132 (52.8% were female with equal family status, social and economic status. Patients group reported a significantly lower level of marital status (P<0.01, education level (P<0.0001, school performance (P<0.0001. TM patients were found to have significantly more psychiatric disorders than the control subjects with GSI: 1.16 ± 0.47 vs. 1.01 ± 0.6; (P<0.03, PSD: 54.99 ± 12.59 vs. 46.42 ± 18.76 (P<0.0001, and PSDI 2.02±1.02 vs 2.45 ± 2.22 (P<0.05. We recorded significant changes in the mean scores of somatization (P<0.0001, interpersonal sensitivity (P<0.0001, depression (P<0.003, anxiety (P<0.05 and psychoticism (P<0.03 in the TM patients as compared to the control subjects.Conclusion: These findings show that beta-thalassemia major patients are at risk for psychiatric symptomatology and need appropriate psychiatric

  19. Treating thalassemia major-related iron overload: the role of deferiprone

    Directory of Open Access Journals (Sweden)

    Berdoukas V

    2012-10-01

    Full Text Available Vasilios Berdoukas,1 Kallistheni Farmaki,2 Susan Carson,1 John Wood,3 Thomas Coates11Division of Hematology/Oncology, Children's Hospital Los Angeles, Los Angeles, CA, USA; 2Thalassemia Unit, General Hospital of Corinth, Corinth, Greece; 3Division of Cardiology, Children's Hospital Los Angeles, Los Angeles, CA, USAAbstract: Over the last 20 years, management for thalassemia major has improved to the point where we predict that patients' life expectancy will approach that of the normal population. These outcomes result from safer blood transfusions, the availability of three iron chelators, new imaging techniques that allow specific organ assessment of the degree of iron overload, and improvement in the treatment of hepatitis. In October 2011, the Food and Drug Administration licensed deferiprone, further increasing the available choices for iron chelation in the US. The ability to prescribe any of the three chelators as well as their combinations has led to more effective reduction of total body iron. The ability to determine the amount of iron in the liver and heart by magnetic resonance imaging allows the prescription of the most appropriate chelation regime for patients and to reconsider what our aims with respect to total body iron should be. Recent evidence from Europe has shown that by normalizing iron stores not only are new morbidities prevented but also reversal of many complications such as cardiac failure, hypothyroidism, hypogonadism, impaired glucose tolerance, and type 2 diabetes can occur, improving survival and patients' quality of life. The most effective way to achieve normal iron stores seems to be with the combination of deferoxamine and deferiprone. Furthermore, outcomes should continue to improve in the future. Starting relative intensive chelation in younger children may prevent short stature and abnormal pubertal maturation as well as other iron-related morbidities. Also, further information should become available on the

  20. Clinical And Radiological Assessment Of Deferiprone Related Knee Arthropathy In Children With P-Thalassemia Major

    International Nuclear Information System (INIS)

    Objectives: To evaluate deferiprone related knee arthropathy in patients with fi-thalassemia major undergoing chelation therapy with deferiprone (LI). Materials and Methods. This study included 40 patients with β- thalassemia major on deferiprone; their ages ranged from 8 to 18 years with a mean age of 12.6 ± 3 years. Forty age and sex matched patients on desferal served as controls. Patients were subjected to clinical knee joint examination using the modified hemophilia joint health score (JHS), bilateral knee joint X-ray and bilateral knee joint ultrasound. Twenty patients of the deferiprone group with positive knee joint ultrasound findings were subjected to knee MRI. Data collected included age, sex, transfusion index, chelation history (dose, duration, and adverse effects), history of splenectomy and symptoms of knee or other joints arthropathy. Weight, height, BMI and Tanner staging of the patients were recorded. Laboratory investigations included CBC, ALT, serum ferritin, viral hepatitis markers (B,C) and echocardiography. Results: Among deferiprone group; 25 patients (62.5%) had knee symptoms while; 93.3% of the asymptomatic patients had evidence of knee joint affection by JHS compared to 17 symptomatic patients (42.5%) among desferal group (ρ> 0.05). Among deferiprone group 7 patients (17.5%) had symptoms of other joints arthropathy. Knee symptoms were more prevalent with longer duration of deferiprone therapy (ρ<0.05), knee joint effusion in US (ρ< 0.05) and Higher platelet count (ρ<0.05), while in desferal group it was related to poor compliance (ρ< 0.01) and higher serum ferritin levels (ρ=<0.01). JHS ranged from 0-33 with 39 (97.5%) affected patients. JHS was positively correlated to age, weight, height, BMI, Tanner staging and platelet count (ρ<0.01), and negatively correlated to transfusion index (ρ<0.01) with no significant correlation to ultrasound or MRI findings. JHS was higher among splenectomized patients in both groups (ρ<0.01). No

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

    Directory of Open Access Journals (Sweden)

    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.

  2. The pharmaceutical vial capping process: Container closure systems, capping equipment, regulatory framework, and seal quality tests.

    Science.gov (United States)

    Mathaes, Roman; Mahler, Hanns-Christian; Buettiker, Jean-Pierre; Roehl, Holger; Lam, Philippe; Brown, Helen; Luemkemann, Joerg; Adler, Michael; Huwyler, Joerg; Streubel, Alexander; Mohl, Silke

    2016-02-01

    Parenteral drug products are protected by appropriate primary packaging to protect against environmental factors, including potential microbial contamination during shelf life duration. The most commonly used CCS configuration for parenteral drug products is the glass vial, sealed with a rubber stopper and an aluminum crimp cap. In combination with an adequately designed and controlled aseptic fill/finish processes, a well-designed and characterized capping process is indispensable to ensure product quality and integrity and to minimize rejections during the manufacturing process. In this review, the health authority requirements and expectations related to container closure system quality and container closure integrity are summarized. The pharmaceutical vial, the rubber stopper, and the crimp cap are described. Different capping techniques are critically compared: The most common capping equipment with a rotating capping plate produces the lowest amount of particle. The strength and challenges of methods to control the capping process are discussed. The residual seal force method can characterize the capping process independent of the used capping equipment or CCS. We analyze the root causes of several cosmetic defects associated with the vial capping process.

  3. Capping stack: An industry in the making

    Institute of Scientific and Technical Information of China (English)

    Jack Chen; Li Xunke; Xie Wenhui; Kang Yongtian

    2013-01-01

    This paper gives an overview of recent development of the marine well containment system (MWCS)after BP Macondo subsea well blowout occurred on April 20,2010 in the Gulf of Mexico.Capping stack,a hardware utilized to contain blowout well at or near the wellhead is the center piece of MWCS.Accessibility to the dedicated capping stacks is gradually becoming a pre-requirement to obtain the permit for offshore drilling/workover,and the industry for manufacturing,maintenance,transportation and operation of the capping stack is in the making.

  4. Application of Full Automated Capillary Electrophoresis System in the Analysis of Thalassemia%全自动毛细管电泳仪在成人珠蛋白生成障碍性贫血筛查中的应用评价

    Institute of Scientific and Technical Information of China (English)

    万志丹; 黄湘; 吴学威; 李冬秀; 郑国兵; 姚英姿; 梁睿

    2012-01-01

    目的 探讨全自动毛细管电泳仪在成人珠蛋白生成障碍性贫血筛查中的应用价值.方法 使用法国Sebia公司的Capillarys2全自动毛细管电泳仪对18 003例成人血标本进行血红蛋白电泳分析,检测HbA,HbF,HbA2和异常血红蛋白含量,对筛查表型阳性的病例召回进行基因分析.结果 18 003例成人标本筛查出α珠蛋白生成障碍性贫血表型阳性者2 226例,筛查阳性率12.36%,其中召回1 070例行基因分析,626例为α珠蛋白基因缺失,符合率58.50%;β珠蛋白生成障碍性贫血表型阳性者1 329例,筛查阳性率7.38%,其中召回733例行基因分析,710例为β珠蛋白基因突变,符合率96.86%.结论 全自动毛细管电泳作为一种新型液相分离技术,具有快速、灵敏度高、分辨率高等优点,能对HbA2进行准确的定位及定量,可初步区分α,β珠蛋白生成障碍性贫血,有效筛出高危患者,全自动毛细管电泳分析技术与基因分析有良好的符合性,为珠蛋白生成障碍性贫血的诊断提供重要依据.%Objective To assess capillary electrophoresis system in the analysis of Thalassemia. Methods Using France Sebia company Capillary 2 automatic capillary electrophoresis instrument analysis 18 003 cases of adult hemoglobin electrophoresis, detection of HbA,HbF,HbA2 and abnormal hemoglobin content,the positive phenotypes cases were recalled for genetic analysis. Results 18 003 cases of adult specimens for alpha thalassemia phenotype was positive in 2 226 cases, screening positive rate 12. 36%. Recalled of 1 070 for gene detection,626 patients for alpha globin gene deletion,with coincidence rate 58. 50%. Beta thalassemia phenotype was positive in 1 329 cases,screening positive rate 7. 38%. Recalled of 733 for gene detection, 710 patients for beta globin gene mutation, with coincidence rate 96. 86%. Conclusion Automatic capillary electrophoresis as a new type of liquid phase separation technology,has the advantages

  5. Circumpolar Active-Layer Permafrost System (CAPS)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Circumpolar Active-Layer Permafrost System (CAPS) contains over 100 data sets pertaining to permafrost and frozen ground topics. It also contains detailed...

  6. C-CAP Land Cover, Niihau, Hawaii

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set consists of land derived from high resolution imagery and was analyzed according to the Coastal Change Analysis Program (C-CAP) protocol to determine...

  7. C-CAP Land Cover, Molokai, Hawaii

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set consists of land derived from high resolution imagery and was analyzed according to the Coastal Change Analysis Program (C-CAP) protocol to determine...

  8. C-CAP Land Cover, Lanai, Hawaii

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set consists of land derived from high resolution imagery and was analyzed according to the Coastal Change Analysis Program (C-CAP) protocol to determine...

  9. Mapping of p140Cap phosphorylation sites

    DEFF Research Database (Denmark)

    Repetto, Daniele; Aramu, Simona; Boeri Erba, Elisabetta;

    2013-01-01

    protein, in which both EPLYA/EGLYA tyrosines were converted to phenylalanine, was no longer tyrosine phosphorylated, despite the presence of other tyrosine residues in p140Cap sequence. Moreover, this mutant lost its ability to bind the C-terminal Src kinase (Csk), previously shown to interact with p140...... phosphorylation and tunes its interactions with other regulatory molecules via post-translation modification. In this work, using mass spectrometry, we found that p140Cap is in vivo phosphorylated on tyrosine (Y) within the peptide GEGLpYADPYGLLHEGR (from now on referred to as EGLYA) as well as on three serine...... residues. Consistently, EGLYA has the highest score of in silico prediction of p140Cap phosphorylation. To further investigate the p140Cap function, we performed site specific mutagenesis on tyrosines inserted in EGLYA and EPLYA, a second sequence with the same highest score of phosphorylation. The mutant...

  10. C-CAP Hawaii 2005 Land Cover

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set consists of land derived from high resolution imagery and was analyzed according to the Coastal Change Analysis Program (C-CAP) protocol to determine...

  11. C-CAP Land Cover, Maui, Hawaii

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set consists of land derived from high resolution imagery and was analyzed according to the Coastal Change Analysis Program (C-CAP) protocol to determine...

  12. Ab initio alpha-alpha scattering

    Science.gov (United States)

    Elhatisari, Serdar; Lee, Dean; Rupak, Gautam; Epelbaum, Evgeny; Krebs, Hermann; Lähde, Timo A.; Luu, Thomas; Meißner, Ulf-G.

    2015-12-01

    Processes such as the scattering of alpha particles (4He), the triple-alpha reaction, and alpha capture play a major role in stellar nucleosynthesis. In particular, alpha capture on carbon determines the ratio of carbon to oxygen during helium burning, and affects subsequent carbon, neon, oxygen, and silicon burning stages. It also substantially affects models of thermonuclear type Ia supernovae, owing to carbon detonation in accreting carbon-oxygen white-dwarf stars. In these reactions, the accurate calculation of the elastic scattering of alpha particles and alpha-like nuclei—nuclei with even and equal numbers of protons and neutrons—is important for understanding background and resonant scattering contributions. First-principles calculations of processes involving alpha particles and alpha-like nuclei have so far been impractical, owing to the exponential growth of the number of computational operations with the number of particles. Here we describe an ab initio calculation of alpha-alpha scattering that uses lattice Monte Carlo simulations. We use lattice effective field theory to describe the low-energy interactions of protons and neutrons, and apply a technique called the ‘adiabatic projection method’ to reduce the eight-body system to a two-cluster system. We take advantage of the computational efficiency and the more favourable scaling with system size of auxiliary-field Monte Carlo simulations to compute an ab initio effective Hamiltonian for the two clusters. We find promising agreement between lattice results and experimental phase shifts for s-wave and d-wave scattering. The approximately quadratic scaling of computational operations with particle number suggests that it should be possible to compute alpha scattering and capture on carbon and oxygen in the near future. The methods described here can be applied to ultracold atomic few-body systems as well as to hadronic systems using lattice quantum chromodynamics to describe the interactions of

  13. Ab initio alpha-alpha scattering.

    Science.gov (United States)

    Elhatisari, Serdar; Lee, Dean; Rupak, Gautam; Epelbaum, Evgeny; Krebs, Hermann; Lähde, Timo A; Luu, Thomas; Meißner, Ulf-G

    2015-12-01

    Processes such as the scattering of alpha particles ((4)He), the triple-alpha reaction, and alpha capture play a major role in stellar nucleosynthesis. In particular, alpha capture on carbon determines the ratio of carbon to oxygen during helium burning, and affects subsequent carbon, neon, oxygen, and silicon burning stages. It also substantially affects models of thermonuclear type Ia supernovae, owing to carbon detonation in accreting carbon-oxygen white-dwarf stars. In these reactions, the accurate calculation of the elastic scattering of alpha particles and alpha-like nuclei--nuclei with even and equal numbers of protons and neutrons--is important for understanding background and resonant scattering contributions. First-principles calculations of processes involving alpha particles and alpha-like nuclei have so far been impractical, owing to the exponential growth of the number of computational operations with the number of particles. Here we describe an ab initio calculation of alpha-alpha scattering that uses lattice Monte Carlo simulations. We use lattice effective field theory to describe the low-energy interactions of protons and neutrons, and apply a technique called the 'adiabatic projection method' to reduce the eight-body system to a two-cluster system. We take advantage of the computational efficiency and the more favourable scaling with system size of auxiliary-field Monte Carlo simulations to compute an ab initio effective Hamiltonian for the two clusters. We find promising agreement between lattice results and experimental phase shifts for s-wave and d-wave scattering. The approximately quadratic scaling of computational operations with particle number suggests that it should be possible to compute alpha scattering and capture on carbon and oxygen in the near future. The methods described here can be applied to ultracold atomic few-body systems as well as to hadronic systems using lattice quantum chromodynamics to describe the interactions of

  14. CAREST--Multilingual Regional Integration for Health Promotion and Research on Sickle Cell Disease and Thalassemia.

    Science.gov (United States)

    Knight-Madden, Jennifer; Romana, Marc; Villaescusa, Rinaldo; Reid, Marvin; Etienne-Julan, Maryse; Boutin, Laurence; Elana, Gisèle; Elenga, Narcisse; Wheeler, Gillian; Lee, Ketty; Nieves, Rosa; Jones Lecointe, Althea; Lalanne-Mistrih, Marie-Laure; Loko, Gylna; Keclard-Christophe, Lisiane; Hardy-Dessources, Marie-Dominique

    2016-05-01

    Sickle cell disease (SCD) is a significant problem in the Caribbean, where many individuals have African and Asian forebears. However, reliable prevalence data and specific health care programs for SCD are often missing in this region. Closer collaboration between Caribbean territories initiated in 2006 to set up strategies to promote better equity in the health care system for SCD patients led to the formation of CAREST: the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia. We present the effectiveness of collaborations established by CAREST to promote SCD newborn screening programs and early childhood care, to facilitate health worker training and approaches for prevention and treatment of SCD complications, and to carry out inter-Caribbean research studies. PMID:26999505

  15. Successful Outcome of Chronic Intrahepatic Cholestasis in an Adult Patient with Sickle Cell/β+ Thalassemia

    Directory of Open Access Journals (Sweden)

    Efthymia Vlachaki

    2014-01-01

    Full Text Available Sickle cell/β+ thalassemia (Hb S/β+thal is considered as a variant form of sickle cell disease. Acute episodes of vasoocclusive pain crisis are characteristic for sickle cell disorders and may be complicated by an acute or chronic life-threatening organ dysfunction. Chronic intrahepatic cholestasis is a rare and severe complication in sickle cell disease, characterized by marked hyperbilirubinemia and acute hepatic failure with an often fatal course. Despite the fact that patients with Hb S/β+thal usually have a mild type of disease, herein we describe an interesting case of chronic intrahepatic cholestasis with successful outcome in an adult patient with Hb S/β+thal.

  16. The relationship between heart and liver iron in thalassemia: a quantitative analysis using MRI

    International Nuclear Information System (INIS)

    Objective: To quantify the heart and liver iron overload in thalassemia patients and discuss the relationship of iron deposition between them, and to evaluate the accuracy of using hepatic iron concentration > 15 mg/g dry tissue as an index to predict heart iron deposition as used in clinical practice. Methods: One hundred and three transfusion-dependent patients with thalassemia, who were older than 5 years, underwent MRI heart and liver measurement to obtain T2* values. The Spearman rank correlation was employed to analyze the relationship between cardiac T2* and liver T2* values. By using liver T2* =0.96 ms as standard setting, patients were divided into two groups, and the differences of cardiac T2* values between the two groups were compared by Wilcoxon rank sum test. Then by using cardiac T2* =10, 20 ms as standard setting, patients were divided into 3 groups, and the differences of liver T2* values among the 3 groups were compared by Wilcoxon rank sum test. The ROC curves were drawn to predict the possibility of using hepatic iron concentration > 15 mg/g dry tissue as an index of cardiac iron deposition. Results: The cardiac and liver T2* values of the 103 thalassemia patients showed low correlation (r=0.453, P=0.000). With the liver T2* value reduced, the cardiac T2* value did not decline proportionally. The cardiac T2* value range and median of 25 patients' group whose liver T2* < 0.96 ms were 4.70 to 41.70 ms and 12.10 ms, respectively. The cardiac T2* value range and the median of 78 patients' group whose liver T2* > 0.96 ms were 4.80 to 51.10 ms and 26.10 ms, respectively. There was statistically significant difference between those of the two groups (Z=-3.566, P=0.000). The liver T2* value range and the median of 20 patients' group whose cardiac T2* < 10 ms was 0.68 to 3.83 ms and 1.06 ms, respectively. The liver T2* value range and the median of 58 patients' group whose cardiac T2* ≥20 ms were 0.74 to 14.80 ms and 1.76 ms

  17. Design and implementation of the CAPS receiver

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    In this paper, based on analyses of the Chinese Area Positioning System (CAPS) satellite (GEO satellite) resources and signal properties, the signal power at the port of the receiver antenna is estimated, and the implementation projects are presented for a switching band C to band L CAPS C/A code receiver integrated with GPS receiver suite and for a CAPS dual frequency P code receiver. A microstrip receiving antenna is designed with high sensitivity and wide beam orientation, the RF front end of the C/A code and P code receivers, and a processor is designed for the navigation baseband. A single frequency CAPS C/A code receiver and a CAPS dual frequency P code receiver are built at the same time. A software process flow is provided, and research on relatively key techniques is also conducted, such as signal searching, code loop and carrier loop algorithms, a height assistant algorithm, a dual frequency difference speed measurement technique, a speed measurement technique using a single frequency source with frequency assistance, and a CAPS time correcting algorithm, according to the design frame of the receiver hardware. Research results show that the static plane positioning accuracy of the CAPS C/A code receiver is 20.5-24.6 m, height accuracy is 1.2-12.8 m, speed measurement accuracy is 0.13-0.3 m/s, dynamic plane positioning accuracy is 24.4 m, height accuracy is 3.0 m, and speed measurement accuracy is 0.24 m/s. In the case of C/A code, the timing accuracy is 200 ns, and it is also shown that the positioning accuracy of the CAPS precise code receiver (1σ ) is 5 m from south to north, and 0.8 m from east to west. Finally, research on positioning accuracy is also conducted.

  18. UNDERSTANDING FARMERS’ RESPONSES TO CAP REFORM

    OpenAIRE

    Menozzi, Davide; Fioravanzi, Martina; Donati, Michele

    2014-01-01

    The 2014-2020 Common Agricultural Policy (CAP) reform defines new rules for farmers including regionalization, crop diversification and ecological focus area (EFA). This paper aims to evaluate farmers’ intention to modify their behaviour because of the CAP reform, using the Theory of Planned Behaviour (TPB). A questionnaire was submitted to 71 Italian durum wheat producers assessing their intention to change durum wheat surface and to maintain as EFA part of the arable land. Subjective norms ...

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    Daniela Benedetto

    Full Text Available 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 (p<0.001, peak VO2 from 1408 to 1546mL/min (p<0.05, and VO2 at anaerobic threshold from 965 to 1024mL/min (p<0.05. No major changes were observed as regards heart and respiratory rates either at peak exercise 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.

  1. Prevalence of β-thalassemia trait and abnormal hemoglobins in Sanliurfa Province in southeast Turkey.

    Science.gov (United States)

    Incebiyik, Adnan; Genc, Ahmet; Hilali, Nese Gul; Camuzcuoglu, Aysun; Camuzcuoglu, Hakan; Kilic, Avni; Vural, Mehmet

    2014-01-01

    Thalassemia is one of the most common hereditary disorders in Turkey, especially in the Mediterranean region of the country. The purpose of this study was to determine the frequency of the β-thalassemia (β-thal) trait and abnormal hemoglobins (Hbs) in couples who applied for premarital screening in Sanliurfa Province, in the southeastern region of Turkey, a province with the first reported incidence of β-thal and abnormal Hbs. In the present study, in order to detect the prevalence of the β-thal trait and abnormal Hbs in Sanliurfa Province, Turkey, a total of 37,962 couples who applied for premarital screening were analyzed. From January 2011 through March 2014, red blood cell (RBC) counts and Hb fractionation were carried out by a cell counter and high performance liquid chromatography (HPLC), respectively. The prevalence of β-thal with high Hb A2 (>3.5%) values was found at rates of 2.44% (n = 1853) in Sanliurfa Province. Additionally, the abnormal Hb rate was 1.57% (1193/75,924), and Hb S (HBB: c.20T > A), Hb C (HBB: c.19G > A) and Hb D-Punjab (HBB: c.364G > C) were reported as 0.50, 0.38 and 0.69, respectively. This study is the first to establish the frequency of β-thal and abnormal Hbs in Sanliurfa Province, which has the highest birth frequency. We report that the frequency of the β-thal trait is at a high-risk level compared to other cities in Turkey. Due to the high risk of β-thal in Sanliurfa Province, a premarital screening program would be of great value in informing parents about offspring with β-thal.

  2. MRI guided iron assessment and oral chelator use improve iron status in thalassemia major patients.

    Science.gov (United States)

    Nichols-Vinueza, Diana X; White, Matthew T; Powell, Andrew J; Banka, Puja; Neufeld, Ellis J

    2014-07-01

    Oral iron chelators and magnetic resonance imaging (MRI) assessment of heart and liver iron burden have become widely available since the mid 2000s, allowing for improved patient compliance with chelation and noninvasive monitoring of iron levels for titration of therapy. We evaluated the impact of these changes in our center for patients with thalassemia major and transfusional iron overload. This single center, retrospective observational study covered the period from 2005 through 2012. Liver iron content (LIC) was estimated both by a T2* method and by R2 (Ferriscan® ) technique. Cardiac iron was assessed as cT2*. Forty-two patients (55% male) with transfused thalassemia and at least two MRIs were included (median age at first MRI, 17.5 y). Over a mean follow-up period of 5.2 ± 1.9 y, 190 MRIs were performed (median 4.5 per patient). Comparing baseline to last MRI, 63% of patients remained within target ranges for cT2* and LIC, and 13% improved from high values to the target range. Both the median LIC and cT2* (cR2* = 1000/cT2*) status improved over time: LIC 7.3 to 4.5 mg/g dry weight, P = 0.0004; cR2* 33.4 to 28.3 Hz, P = 0.01. Individual responses varied widely. Two patients died of heart failure during the study period. Annual MRI iron assessments and availability of oral chelators both facilitate changes in chelation dose and strategies to optimize care. PMID:24652616

  3. Faddeev calculation of 3 alpha and alpha alpha Lambda systems using alpha alpha resonating-group method kernel

    CERN Document Server

    Fujiwara, Y; Kohno, M; Suzuki, Y; Baye, D; Sparenberg, J M

    2004-01-01

    We carry out Faddeev calculations of three-alpha (3 alpha) and two-alpha plus Lambda (alpha alpha Lambda) systems, using two-cluster resonating-group method kernels. The input includes an effective two-nucleon force for the alpha alpha resonating-group method and a new effective Lambda N force for the Lambda alpha interaction. The latter force is a simple two-range Gaussian potential for each spin-singlet and triplet state, generated from the phase-shift behavior of the quark-model hyperon-nucleon interaction, fss2, by using an inversion method based on supersymmetric quantum mechanics. Owing to the exact treatment of the Pauli-forbidden states between the clusters, the present three-cluster Faddeev formalism can describe the mutually related, alpha alpha, 3 alpha and alpha alpha Lambda systems, in terms of a unique set of the baryon-baryon interactions. For the three-range Minnesota force which describes the alpha alpha phase shifts quite accurately, the ground-state and excitation energies of 9Be Lambda are...

  4. Iron overload causes osteoporosis in thalassemia major patients through interaction with transient receptor potential vanilloid type 1 (TRPV1) channels

    Science.gov (United States)

    Rossi, Francesca; Perrotta, Silverio; Bellini, Giulia; Luongo, Livio; Tortora, Chiara; Siniscalco, Dario; Francese, Matteo; Torella, Marco; Nobili, Bruno; Di Marzo, Vincenzo; Maione, Sabatino

    2014-01-01

    The pathogenesis of bone resorption in β-thalassemia major is multifactorial and our understanding of the underlying molecular and cellular mechanisms remains incomplete. Considering the emerging importance of the endocannabinoid/endovanilloid system in bone metabolism, it may be instructive to examine a potential role for this system in the development of osteoporosis in patients with β-thalassemia major and its relationship with iron overload and iron chelation therapy. This study demonstrates that, in thalassemic-derived osteoclasts, tartrate-resistant acid phosphatase expression inversely correlates with femoral and lumbar bone mineral density, and directly correlates with ferritin levels and liver iron concentration. The vanilloid agonist resiniferatoxin dramatically reduces cathepsin K levels and osteoclast numbers in vitro, without affecting tartrate-resistant acid phosphatase expression. The iron chelators deferoxamine, deferiprone and deferasirox decrease both tartrate-resistant acid phosphatase and cathepsin K expression, as well as osteoclast activity. Taken together, these data show that transient receptor potential vanilloid type 1 activation/desensitization influences tartrate-resistant acid phosphatase expression and activity, and this effect is dependent on iron, suggesting a pivotal role for iron overload in the dysregulation of bone metabolism in patients with thalassemia major. Our applied pharmacology provides evidence for the potential of iron chelators to abrogate these effects by reducing osteoclast activity. Whether iron chelation therapy is capable of restoring bone health in humans requires further study, but the potential to provide dual benefits for patients with β-thalassemia major –preventing iron-overload and alleviating associated osteoporotic changes – is exciting. PMID:25216685

  5. Evaluation of Myocardial Performance Index(Mpi in Beta Thalassemia Major Patients at the Ali Asghar Hospital , Zahedan , Iran

    Directory of Open Access Journals (Sweden)

    R Sohrevardi

    2004-04-01

    Full Text Available Introduction : Patients with major thalassemia need recurrent transfusions and if not treated are at risk of heart dysfunction. Heart tissue could be abnormal in patients who use desferral continously due to iron deposits , fibrosis , hypertrophy and side effects of chronic anemia. Cardiac involvement is the main cause of morbidity and mortality in major thalassemics, so we decided to improve early diagnosis of cardiac involvement by measuring myocardial performance index( MPI . Method & Materials : This case-control study was performed from April 2003 to December 2003 at the Ali-Asghar pediatrics hospital, Zahedan, Iran. MPI of both ventricles was measured by Doppler echocardiography in 48 patients with major thalassemia aged between 10-18 years and compared with 48 age , sex-matched controls. Patients had no abnormality in physical examination , chest x-ray and ECG and echocardiography did not show heart failure. Hemoglobin and serum ferritin levels was measured in all patients before echocardiography. Results: Mean age of patients was 12.3±2.4 years and that in the control group was 12.7±2years . Right ventricle isovolumetric relaxation time (RVIRT (107 ± 14 vs 94 ±14 , p0.05 and LVICT (31 ± 13 vs 21 ± 15 , p0.05 in the two groups. Finally, RVMPI (0.59 ± 0.12 Vs 0.46 ± 0.12 , p<0.001 was increased in 87% of patients and LVMPI (0.49 ± 0.12 Vs 0.41± 0.09 , p0.05. Conclusion: This study showed that RVMPI and LVMPI increase in major thalassemia patients that indicates systolic and diastolic dysfunction and RVMPI increases more than LVMPI. On the other hand, MPI has a direct correlation with serum ferritin . On the basis of this study ,we suggest MPI measurement in serial echocardiography in asymptomatic major thalassemia patients.

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

    OpenAIRE

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

    2015-01-01

    Background: 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...

  7. Epidural anesthesia for laparoscopic cholecystectomy in a patient with sickle cell anemia, beta thalassemia, and Crohn's disease -A case report-

    OpenAIRE

    Baş, Sema Şanal; Özlü, Onur

    2012-01-01

    A 37-year-old woman diagnosed with sickle cell anemia (SCA), beta (+) thalassemia, Crohn's disease, and liver dysfunction was scheduled for laparoscopic cholecystectomy (LC) due to acute cholecystitis with gall bladder. Regional anesthesia was performed. An epidural catheter was inserted into the 9-10 thoracal epidural space and then 15 ml of 0.5% bupivacaine was injected through the catheter. The level of sensorial analgesia tested with pinprick test reached up to T4. Here we describe the fi...

  8. Carrier Screening for β Thalassemia in Pregnant Indian Women: Experience at a Single Center in Madhya Pradesh.

    Science.gov (United States)

    Baxi, Asha; Manila, Kaushal; Kadhi, Pooja; Heena, Baxi

    2013-06-01

    To study the prevalence of β thalassemia trait in pregnancy in urban population screening for β thalassemia in pregnant women at a single center in Indore (MP) has been conducted for a period of 2 year. Blood samples were tested for complete blood count and hemoglobin electrophoresis. During the 2 year period a total of 1,006 women were screened; 28 women who carried abnormal pattern were detected. The mean gestational age for screening was 13 ± 4 weeks. The prevalence of carriers was 2.78 %. As much as 99 % of pregnant women undergoing screening were willing for prenatal diagnosis if required. The economic burden to the society for treating thalassemic patients is huge. The institution of prevention programs like carrier screening has proven costeffective in populations with a high frequency of carriers. Screening of pregnant women early in pregnancy followed by prenatal diagnosis is acceptable and effective strategy for control of thalassemia in developing countries like India. PMID:24426339

  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. Hepatic iron overload and fibrosis in patients with beta thalassemia major after hematopoietic stem cell transplantation: A pilot study.

    Science.gov (United States)

    Ghavamzadeh, Ardeshir; Mirzania, Mehrzad; Kamalian, Naser; Sedighi, Nahid; Azimi, Parisima

    2015-04-01

    Currently, hematopoietic stem cell transplantation (HSCT) is the only curative option for patients with beta-thalassemia major, but liver iron overload in these patients will not decrease and hepatic fibrosis may still progress despite successful HSCT. Liver biopsy samples were taken from 14 patients (Out of 25 patients) who underwent HSCT. All patients met three criteria: negative HCV antibody, liver fibrosis in samples before HSCT and lack of regular treatment for iron overload after HSCT (Because patients did not consent to phlebotomy or they had not regular follow-up). We evaluated liver fibrosis and liver iron overload by a semi quantitative method, Perls' Prussian blue staining, before and after HSCT. HSCT was successful in all the patients. Liver iron overload did not change after transplant (P=0.61), but hepatic fibrosis progressed after transplant (P=0.01). In patients with beta thalassemia major who previously had some degree of liver fibrosis, HSCT alone cannot reduce liver iron overload and liver fibrosis will increase. We recommend that regardless of the amount of iron overload in patients with beta thalassemia major that have shown some degree of fibrosis in their liver biopsy before transplantation, appropriate steps should be taken to reduce iron overload as soon as possible after successful transplantation.

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

    Directory of Open Access Journals (Sweden)

    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.

  12. D-dimer and portal vein status in splenectomized Egyptian β-thalassemia major patients: a prospective single-thalassemia center experience.

    Science.gov (United States)

    Elalfy, Mohsen Saleh; Andrawes, Nevine Gamal; Sadek, Azza Mohamad; Hussein, Omar; Abdou, Abeer

    2012-04-01

    Splenectomy is a recognized cause of portal vein thrombosis. Thirty-six β-thalassemia major (β-TM) patients were followed up for 36 months to evaluate changes in D-dimer levels (as a possible marker for thrombosis development) and portal vein status (by portal duplex ultrasound) at both early and late postlaparoscopic splenectomy periods. They were classified into group I if they were splenectomized in the study period (n = 12), or group II if they were splenectomized during the 5 years preceding the period (n = 24). In group I, D-dimer was measured 5 times: 1 day presplenectomy, the 1st week, 6th week, and 6th month postsplenectomy, and at the study end, whereas in group II, D-dimer was measured twice: at the study entry and end. Portal duplex was done 1 week postsplenectomy (group I) and at study end in both groups. Presplenectomy D-dimer levels in group I were significantly higher compared with the 6th month (P = .042) and study end (P = .03), whereas 1st week (postsplenectomy) D-dimer levels had a high mean of 3497.3 ng/mL, lowered at the 6th week (P = .017), at the 6th month (P = .008), and at study end (P = .005). D-dimer levels in group II showed no difference between study entry and end (P = .104). Portal vein "diameter and flow" were within normal findings in both groups. In this 3-year prospective study, a subclinical hypercoagulable state was detected 1 day prior to splenectomy and in the early postsplenectomy period, as evidenced by high D-dimer levels. Laparoscopic splenectomy was not associated with portal venous thrombosis either clinically or by duplex sonography. PMID:22475301

  13. 75 FR 49527 - Caps Visual Communications, LLC; Black Dot Group; Formerly Known as Caps Group Acquisition, LLC...

    Science.gov (United States)

    2010-08-13

    ... Employment and Training Administration Caps Visual Communications, LLC; Black Dot Group; Formerly Known as... Adjustment Assistance on June 24, 2010, applicable to workers of Caps Visual Communications, LLC, Black Dot..., Caps Visual Communications, LLC, Black Dot Group, formerly known as Caps Group Acquisition,...

  14. Review of alpha_s determinations

    CERN Document Server

    Pich, Antonio

    2013-01-01

    The present knowledge on the strong coupling is briefly summarized. The most precise determinations of alpha_s, at different energies, are reviewed and compared at the Z mass scale, using the predicted QCD running. The impressive agreement achieved between experimental measurements and theoretical predictions constitutes a beautiful and very significant test of Asymptotic Freedom, establishing QCD as the fundamental theory of the strong interaction. The world average value of the strong coupling is found to be alpha_s(M_Z^2)= 0.1186 \\pm 0.0007.

  15. Scenarios for a cap beyond 2013; Implications for EU27 agriculture and the cap budget

    NARCIS (Netherlands)

    Helming, J.F.M.; Terluin, I.J.

    2011-01-01

    An ex ante analysis of a set of five policy components (proposed post 2013 CAP measures) has been carried out for the 2014-2020 period, based on the EC Communication The CAP towards 2020 of 18 November 2010. The policy components are defined in such a way that they focus on the contribution of farme

  16. About Thalassemia

    Science.gov (United States)

    ... people of Mediterranean descent, such as Italians and Greeks, and is also found in the Arabian Peninsula, ... in people of Mediterranean ancestry, such as Italians, Greeks and Turks. The condition varies according to the ...

  17. Decay properties of /sup 186/Pb and the lead alpha-decay rate anomaly

    Energy Technology Data Exchange (ETDEWEB)

    Toth, K.S.; Ellis-Akovali, Y.A.; Bingham, C.R.; Moltz, D.M.; Carter, H.K.; Mlekodaj, R.L.; Spejewski, E.H.; Sousa, D.C.

    1984-01-01

    Alpha-decay transitions between ground states of doubly-even nuclei are taken to represent unhindered decays. Reduced widths for these s-wave transitions behave in a regular fashion as a function of both neutron and atomic number. They are largest for nuclei two or four particles beyond a closed shell (with sharp minima at the shell) and they then decrease as the next closure is approached. The s-wave widths for /sup 186/ /sup 188/ /sup 190/ /sup 192/Pb, however, have been reported to behave anomalously, i.e., they purportedly increase by a factor of 30 between /sup 186/Pb (N = 104) and /sup 192/Ob (N = 110) instead of decreasing as one nears N = 126. Theoretical calculations have not reproduced this unusual behavior. The (electron-capture (EC) + ..beta../sup +/) strengths were deduced from K x-ray intensities. A number of corrections are involved in such determinations. We undertook the investigation of the (EC + ..beta../sup +/) decay schemes of these neutron-deficient lead isotopes, in conjunction with studies of their ..cap alpha..-decay properties, to obtain more reliable ..cap alpha..-branching ratios. Herein we present new information on /sup 186/Pb and discuss the partial ..cap alpha.. half-lives for /sup 192/Pb, /sup 190/Pb, /sup 188/Pb, and /sup 186/Pb together with ..cap alpha..-decay rates for even-even nuclei with Z greater than or equal to 78.

  18. Analysis on the positioning precision of CAPS

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    As a newly developed satellite positioning system, the Chinese Area Positioning System (CAPS) is a typical direct sequence spread spectrum ranging system like GPS. The positioning precision of such navigation signals depends on many factors, including the pseudo-code rate, the signal to noise ratio, the processing methods for tracking loops and so on. This paper describes the CAPS link budget, the solution approach for CAPS positioning, focusing on the autocorrelation function feature of C/A code signals. The CAPS signal measurement precision is studied by the software approach together with theoretical analysis of the range resolution. Because the conventional Delay Lock Loop (DLL) is vul- nerable to the impact of noise, a narrow correlator and multiple correlators as well as the corresponding discrimination methods of phases are proposed, which improves the robustness of DLL and the code-phase resolution of the measurement. The results show that the improvement of the DLL structure and the discrimination method are the most important way to improve the ranging resolution. Theoretical analysis and experimental results show that a CAPS receiver could reach a 20-m positioning precision by using three satellites with a supported height from an altimeter.

  19. Martian north polar cap summer water cycle

    CERN Document Server

    Brown, Adrian J; Becerra, Patricio; Byrne, Shane

    2016-01-01

    A key outstanding question in Martian science is 'are the polar caps gaining or losing mass and what are the implications for past, current and future climate?' To address this question, we use observations from the Compact Reconnaissance Imaging Spectrometer for Mars (CRISM) of the north polar cap during late summer for multiple Martian years, to monitor the summertime water cycle in order to place quantitative limits on the amount of water ice deposited and sublimed in late summer. We establish here for the first time the summer cycle of water ice absorption band signatures on the north polar cap. We show that in a key region in the interior of the north polar cap, the absorption band depths grow until Ls=120, when they begin to shrink, until they are obscured at the end of summer by the north polar hood. This behavior is transferable over the entire north polar cap, where in late summer regions 'flip' from being net sublimating into net condensation mode. This transition or 'mode flip' happens earlier for ...

  20. Analysis on the positioning precision of CAPS

    Institute of Scientific and Technical Information of China (English)

    JI YuanFa; SUN XiYan

    2009-01-01

    As a newly developed satellite positioning system,the Chinese Area Positioning System (CAPS) Is a typical direct sequence spread spectrum ranging system like GPS.The positioning precision of such navigation signals depends on many factors,including the pseudo-code rate,the signal to noise ratio,the processing methods for tracking loops and so on.This paper describes the CAPS link budget,the solution approach for CAPS positioning,focusing on the autocorrelation function feature of C/A code signals.The CAPS signal measurement precision is studied by the software approach together with theoretical analysis of the range resolution.Because the conventional Delay Lock Loop (DLL) is vulnerable to the impact of noise,a narrow correlator and multiple correlatore as well as the corresponding discrimination methods of phases are proposed,which improves the robustness of DLL and the code-phase resolution of the measurement.The results show that the Improvement of the DLL structure and the discrimination method are the most important way to improve the ranging resolution.Theoretical analysis and experimental results show that a CAPS receiver could reach a 20-m positioning precision by using three satellites with a supported height from an altimeter.

  1. Nasute termite soldier frontal gland secretions. 1. Structure of Trinervi-2. beta. ,3. cap alpha. ,9. cap alpha. -triol 9-O acetate, a novel diterpene from Trinervitermes soldiers

    Energy Technology Data Exchange (ETDEWEB)

    Prestwich, G.D. (International Center of Insect Physiology and Ecology, Nairobi, Kenya); Tanis, S.P.; Springer, J.P.; Clardy, J.

    1976-09-15

    One of the major constituents, ''TG-2,'' of the soldier secretions of Trinervitermes gratiosus Sjostedt were studied by x-ray diffraction. The structure was determined to be a novel diterpene skeleton with a bridgehead double bond in an 11-membered ring. Bond angles and lengths were discussed, and a computer generated perspective drawing of the compound was presented. (DDA)

  2. Palmar a-b ridge count in E-β thalassemia patients: A study on the Bengalee Hindu Caste Populations of West Bengal, India

    Directory of Open Access Journals (Sweden)

    P. Das

    2014-10-01

    Full Text Available Apart from the unique value of finger prints for personal identification, dermatoglyphics has been utilized as valuable marker trait and its diagnostic value for different genetic disorders is well documented. Several studies have reported the importance of dermatoglyphics as markers of a prenatal disturbance due to the fact that finger and palmar dermatoglyphics characteristics are formed by the end of the second trimester, they may provide evidence of disturbances in early development. To best of the knowledge, the present study is the first attempt to understand the association of palmar a-b ridge count among the E-β thalassemia patients. To achieve the purpose finger and palm prints of 70 (Male-35, Female-35 diagnosed E-β thalassemia patients were obtained from Hindu caste Bengalee population of Howrah district, West Bengal. Apart from thalassemia patients, 70 (Male-35, Female-35 apparently healthy individuals without any family history of thalassemia as controls have also been collected from Bengalee Hindu caste population of the same area. Bilateral palm prints of all the participants were collected by using standard ink and roller method. For the present purpose a-b ridge count (ABRC of each palm and total a-b ridge count (TABRC of the E-β thalassemia patients and the controls have been evaluated using standard method. The results revealed significantly (p<0.05 higher ABRC and TABRC among E-β thalassemia patients than the controls, and consequently indicated greater distance between palmar a and b interdigital triradii among the E-β thalassemia patients. Furthermore, significant (p<0.05 increase of ABRC was found among the male patients than that of female patients along with significant (p<0.05 bilateral asymmetry for ABRC among the female E-β thalassemia patients. However, no such sexual dimorphism and bilateral asymmetry for ABRC was revealed among the controls. Therefore, the present study envisaged that palmar a-b ridge count

  3. THE PROTECTIVE ROLE OF VITAMIN E AGAINST OXYGEN FREE RADICAL AND DNA DAMAGE IN CHILDREN WITH β-THALASSEMIA MAJOR

    International Nuclear Information System (INIS)

    The present study aimed to determine the benefits of vitamin E as antioxidant supplement in β thalassemia children who are at risk of iron overload due to multiple blood transfusion and oxidative stress. Antioxidant markers, oxidative products, hematological parameters and biomarkers of cell damage were studied in 24 transfusion-dependent β -thalassemia children before and after treatment with vitamin E at a dose of 10 mg/kg /day for a period of four weeks. Plasma thiobarbituric acid reactive species (TBARS) and urinary 8-hydroxy-2'-deoxyguanosine (8-OHdG) were analyzed as oxidative markers, whereas the plasma vitamin E and the activities of the antioxidant enzymes glutathione peroxidase (GSH-Px), superoxide dismutase(SOD) and catalase were measured to show the antioxidant status of thalassemic children. All these parameters were also studied in 15 non-anemic healthy controls .The results showed that all the patients had increased signs of iron overload and cell damage that were obvious from the increase in serum iron, ferritin, alanine transaminases (ALT), aspartate transaminases (AST) and both total and direct bilirubin .The level of plasma vitamin E in the thalassemia patients were found to be significantly lower as compared to normal subjects (1.3 ± 0.7 and 3.14 ± 1.5 mg % , respectively). The activities of antioxidants enzymes, glutathione peroxidase and catalase in untreated β-thalassemic patients were found to be significantly (P<0.001) less than that of the normal subjects. However, SOD level was significantly increased. Markers of free radical injury such as TBARS , urinary 8-OHdG levels in thalassemic children were significantly higher than control levels . All these changes in the antioxidant status as well as the hematological parameters, iron overload and cell damage markers in β-thalassemia patients showed significant improvement after vitamin E supplementation. Vitamin E levels showed significant positive correlations with each of Hb, GSH

  4. Capping complex formation at the slow-growing end of the actin filament.

    Science.gov (United States)

    Kostyukova, A S

    2008-12-01

    Actin filaments are polar; their barbed (fast-growing) and pointed (slow-growing) ends differ in structure and dynamic properties. The slow-growing end is regulated by tropomodulins, a family of capping proteins that require tropomyosins for optimal function. There are four tropomodulin isoforms; their distributions vary depending on tissue type and change during development. The C-terminal half of tropomodulin contains one compact domain represented by alternating alpha-helices and beta-structures. The tropomyosin-independent actin-capping site is located at the C-terminus. The N-terminal half has no regular structure; however, it contains a tropomyosin-dependent actin-capping site and two tropomyosin-binding sites. One tropomodulin molecule can bind two tropomyosin molecules. Effectiveness of tropomodulin binding to tropomyosin depends on the tropomyosin isoform. Regulation of tropomodulin binding at the pointed end as well as capping effectiveness in the presence of specific tropomyosins may affect formation of local cytoskeleton and dynamics of actin filaments in cells. PMID:19216712

  5. Review of alpha_s determinations

    OpenAIRE

    Pich, Antonio

    2013-01-01

    The present knowledge on the strong coupling is briefly summarized. The most precise determinations of alpha_s, at different energies, are reviewed and compared at the Z mass scale, using the predicted QCD running. The impressive agreement achieved between experimental measurements and theoretical predictions constitutes a beautiful and very significant test of Asymptotic Freedom, establishing QCD as the fundamental theory of the strong interaction. The world average value of the strong coupl...

  6. Treatment of β-Thalassemia/Hemoglobin E with Antioxidant Cocktails Results in Decreased Oxidative Stress, Increased Hemoglobin Concentration, and Improvement of the Hypercoagulable State

    Directory of Open Access Journals (Sweden)

    Orn-uma Yanpanitch

    2015-01-01

    Full Text Available Studies on the antioxidant treatment for thalassemia have reported variable outcomes. However, treatment of thalassemia with a combination of hydrophobic and hydrophilic antioxidants and an iron chelator has not been studied. This study investigated the effects of antioxidant cocktails for the treatment of β-thalassemia/hemoglobin E (HbE, which is the most common form of β-thalassemia in Southeast Asia. Sixty patients were divided into two groups receiving N-acetylcysteine, deferiprone, and either curcuminoids (CUR or vitamin E (Vit-E, and their hematological parameters, iron load, oxidative stress, and blood coagulation potential were evaluated. Patients were classified as responders if they showed the improvements of the markers of iron load and oxidative stress, otherwise as nonresponders. During treatment, the responders in both groups had significantly decreased iron load, oxidative stress, and coagulation potential and significantly increased antioxidant capacity and hemoglobin concentration. The significantly maximum increase (P<0.01 in hemoglobin concentration was 11% at month 4 in CUR group responders and 10% at month 10 in Vit-E group responders. In conclusion, the two antioxidant cocktails can improve anemia, iron overload, oxidative stress, and hypercoagulable state in β-thalassemia/HbE.

  7. HEMATOPOIETIC STEM CELL TRANSPLANTATION IN THALASSEMIA AND SICKLE CELL DISEASE: EXPERIENCE OF MEDITERRANEAN INSTITUTE OF HEMATOLOGY IN A MULTI-ETHNIC POPULATION.

    Directory of Open Access Journals (Sweden)

    Marco Marziali

    2009-12-01

    Full Text Available Hematopoietic stem cell transplantation (HSCT still remains the only definitive cure currently available for patients with thalassemia and sickle cell anemia.  Results of transplant in thalassemia  and in sickle cell anemia  have steadily improved over the last two decades due to improvements in preventive strategies, and effective control of transplant-related complications. From 2004 through  2009,  145 consecutive patients with thalassemia and sickle cell anemia, ethnically heterogeneous from Mediterranean and Middle East countries, were given HSCT in the International Center for Transplantation in Thalassemia and Sickle Cella Anemia in Rome. This experience is characterized by two peculiarities: patients were ethnically very heterogeneous and the vast majority of these patients were not regularly transfesed/chelated and therefore were highly sensitized due to RBC transfusions without leukodepletion filters. Consequently, they could have a high risk of graft rejection as a result of sensitization to HLA antigens. The Rome experience of SCT in patients with thalassemia and sickle cell anemia confirmed the results obtained in Pesaro, and most importantly showed the reproducibility of these results in other centers.

  8. Seismic explosion sources on an ice cap

    DEFF Research Database (Denmark)

    Shulgin, Alexey; Thybo, Hans

    2015-01-01

    Controlled source seismic investigation of crustal structure below ice covers is an emerging technique. We have recently conducted an explosive refraction/wide-angle reflection seismic experiment on the ice cap in east-central Greenland. The data-quality is high for all shot points and a full...... crustal model can be modelled. A crucial challenge for applying the technique is to control the sources. Here, we present data that describe the efficiency of explosive sources in the ice cover. Analysis of the data shows, that the ice cap traps a significant amount of energy, which is observed...... as a strong ice wave. The ice cap leads to low transmission of energy into the crust such that charges need be larger than in conventional onshore experiments to obtain reliable seismic signals. The strong reflection coefficient at the base of the ice generates strong multiples which may mask for secondary...

  9. Martian north polar cap summer water cycle

    Science.gov (United States)

    Brown, Adrian J.; Calvin, Wendy M.; Becerra, Patricio; Byrne, Shane

    2016-10-01

    A key outstanding question in Martian science is "are the polar caps gaining or losing mass and what are the implications for past, current and future climate?" To address this question, we use observations from the Compact Reconnaissance Imaging Spectrometer for Mars (CRISM) of the north polar cap during late summer for multiple Martian years, to monitor the summertime water cycle in order to place quantitative limits on the amount of water ice deposited and sublimed in late summer. We establish here for the first time the summer cycle of water ice absorption band signatures on the north polar cap. We show that in a key region in the interior of the north polar cap, the absorption band depths grow until Ls = 120, when they begin to shrink, until they are obscured at the end of summer by the north polar hood. This behavior is transferable over the entire north polar cap, where in late summer regions 'flip' from being net sublimating into net condensation mode. This transition or 'mode flip' happens earlier for regions closer to the pole, and later for regions close to the periphery of the cap. The observations and calculations presented herein estimate that on average a water ice layer ∼70 microns thick is deposited during the Ls = 135-164 period. This is far larger than the results of deposition on the south pole during summer, where an average layer 0.6-6 microns deep has been estimated by Brown et al. (2014) Earth Planet. Sci. Lett., 406, 102-109.

  10. Novel therapeutic agents for HbF induction: a new era for treatment of β thalassemia?

    Directory of Open Access Journals (Sweden)

    S.P. Perrine

    2011-12-01

    Full Text Available 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 levels, and even eliminated transfusion requirements in formerly transfusion-dependent patients, demonstrating proof-of-concept of the approach. However, prior generations of therapeutics were not readily feasible for widespread use. Currently, several recently discovered oral therapeutic candidates are more potent and/ or patientfriendly, requiring low oral doses, have distinct molecular mechanisms of action, and can be used in combination regimens. Tailoring therapeutic regimens to patient subsets stratified for solely β+ or a β0 globin mutation, and for quantitative trait loci (QTL which modulate HbF and clinical severity, can guide more effective and informative clinical trials. These advancements provide methods for a rational approach to applying fetal globin gene induction in therapeutic regimens suitable for use in diverse thalassemia patient populations world-wide. 胎儿珠蛋白是内生的,通常结合在所有人类的造血干细胞中,并可进行再激活。 包括胎儿珠蛋白的表达(g-珠蛋白),60%-70% 珠蛋白合成基因表达产生 β地中海贫血特征珠蛋白合成比率,并且已经显示将贫血降低至轻度水平,这不需要常规输血 几类疗法诱导β地中海贫血患者中的g-珠蛋白的表达,升高了血红蛋白的总体水平,甚至让以前依靠输血的患者不再需要输血,这演示了此方法的概念验证。 不过,先前几代疗法未能进行广泛使用。 目前,最近发

  11. Pharmacy benefit caps and the chronically ill.

    Science.gov (United States)

    Joyce, Geoffrey F; Goldman, Dana P; Karaca-Mandic, Pinar; Zheng, Yuhui

    2007-01-01

    In this paper we examine medication use among retirees with employer-sponsored drug coverage both with and without annual benefit limits. We find that pharmacy benefit caps are associated with higher rates of medication discontinuation across the most common therapeutic classes and that only a minority of those who discontinue use reinitiate therapy once coverage resumes. Plan members who reach their cap are more likely than others to switch plans and increase their rate of generic use; however, in most cases, the shift is temporary. Given the similarities between these plans and Part D, we make some inferences about reforms for Medicare.

  12. Assembling the CMS yoke end-caps

    CERN Multimedia

    Laurent Guiraud

    2001-01-01

    A crane is used to piece together one of the end-caps that will provide the path for magnetic flux return on the CMS experiment. A total of six end-cap discs will be assembled before being positioned on the barrel yoke to complete the huge 12 500 tonne cylinder yoke. The magnetic field produced will be greater than any other solenoid created to date at 4 T, 100 000 times greater than the Earth's natural magnetic field, and will store enough energy to melt 18 tonnes of gold.

  13. Design and implementation of the CAPS receiver

    Institute of Scientific and Technical Information of China (English)

    HU YongHui; HUA Yu; HOU Lei; WEI JingFa; WU JianFeng

    2009-01-01

    In this paper,baaed on analyses of the Chinese Area Positioning System (CAPS) satellite (GEO satellite) resources and signal properties,the signal power at the port of the receiver antenna is estimated,and the implementation projects are presented for a switching band C to band L CAPS C/A code receiver integrated with GPS receiver suite and for a CAPS dual frequency P code receiver.A microstrip receiving antenna is designed with high sensitivity and wide beam orientation,the RF front end of the C/A code and P code receivers,and a processor is designed for the navigation baseband.A single frequency CAPS C/A code receiver and a CAPS dual frequency P code receiver are built at the same time.A software process flow is provided,and research on relatively key techniques is also conducted,such as signal searching,code loop and carrier loop algorithms,a height assistant algorithm,a dual frequency difference speed measurement technique,a speed measurement technique using a single frequency source with frequency assistance,and a CAPS time correcting algorithm,according to the design frame of the receiver hardware.Research results show that the static plane positioning accuracy of the CAPS C/A code receiver is 20.5-24.6 m,height accuracy is 1.2-12.8 m,speed measurement accuracy is 0.13-0.3 m/s,dynamic plane positioning accuracy is 24.4 m,height accuracy is 3.0 m,and speed measurement accuracy is 0.24 m/s.In the case of C/A code,the timing accuracy is 200 ha,and it is also shown that the positioning accuracy of the CAPS precise code receiver (1σ) is 5 m from south to north,and 0.8 m from east to west.Finally,research on positioning accuracy is also conducted.

  14. Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism

    Directory of Open Access Journals (Sweden)

    Jorge S.B.

    2003-01-01

    Full Text Available Point mutations and small insertions or deletions in the human alpha-globin genes may produce alpha-chain structural variants and alpha-thalassemia. Mutations can be detected either by direct DNA sequencing or by screening methods, which select the mutated exon for sequencing. Although small (about 1 kb, 3 exons and 2 introns, the alpha-globin genes are duplicate (alpha2 and alpha1 and highy G-C rich, which makes them difficult to denature, reducing sequencing efficiency and causing frequent artifacts. We modified some conditions for PCR and electrophoresis in order to detect mutations in these genes employing nonradioactive single-strand conformation polymorphism (SSCP. Primers previously described by other authors for radioactive SSCP and phast-SSCP plus denaturing gradient gel electrophoresis were here combined and the resultant fragments (6 new besides 6 original per alpha-gene submitted to silver staining SSCP. Nine structural and one thalassemic mutations were tested, under different conditions including two electrophoretic apparatus (PhastSystem(TM and GenePhor(TM, Amersham Biosciences, different polyacrylamide gel concentrations, run temperatures and denaturing agents, and entire and restriction enzyme cut fragments. One hundred percent of sensitivity was achieved with four of the new fragments formed, using the PhastSystem(TM and 20% gels at 15ºC, without the need of restriction enzymes. This nonradioactive PCR-SSCP approach showed to be simple, rapid and sensitive, reducing the costs involved in frequent sequencing repetitions and increasing the reliability of the results. It can be especially useful for laboratories which do not have an automated sequencer.

  15. New ALPHA-2 magnet

    CERN Multimedia

    Anaïs Schaeffer

    2012-01-01

    On 21 June, members of the ALPHA collaboration celebrated the handover of the first solenoid designed for the ALPHA-2 experiment. The magnet has since been successfully installed and is working well.   Khalid Mansoor, Sumera Yamin and Jeffrey Hangst in front of the new ALPHA-2 solenoid. “This was the first of three identical solenoids that will be installed between now and September, as the rest of the ALPHA-2 device is installed and commissioned,” explains ALPHA spokesperson Jeffrey Hangst. “These magnets are designed to allow us to transfer particles - antiprotons, electrons and positrons - between various parts of the new ALPHA-2 device by controlling the transverse size of the particle bunch that is being transferred.” Sumera Yamin and Khalid Mansoor, two Pakistani scientists from the National Centre for Physics in Islamabad, came to CERN in February specifically to design and manufacture these magnets. “We had the chance to work on act...

  16. Non-invasive prenatal diagnosis of β-thalassemia by detection of the cell-free fetal DNA in maternal circulation: a systematic review and meta-analysis.

    Science.gov (United States)

    Zafari, Mandana; Kosaryan, Mehrnoush; Gill, Pooria; Alipour, Abbass; Shiran, Mohammadreza; Jalalli, Hossein; Banihashemi, Ali; Fatahi, Fatemeh

    2016-08-01

    The discovery of fetal DNA (f-DNA) opens the possibility of early non-invasive procedure for detection of paternally inherited mutation of beta-thalassemia. Since 2002, some studies have examined the sensitivity and specificity of this method for detection of paternally inherited mutation of thalassemia in pregnant women at risk of having affected babies. We conducted a systematic review of published articles that evaluated using this method for early detection of paternally inherited mutation in maternal plasma. A sensitive search of multiple databases was done in which nine studies met our inclusion criteria. The sensitivity and specificity was 99 and 99 %, respectively. The current study found that detection of paternally inherited mutation of thalassemia using analysis of cell-free fetal DNA is highly accurate. This method could replace conventional and invasive methods. PMID:26968552

  17. CAP Reform and the Doha Development Agenda

    NARCIS (Netherlands)

    van Dijck, P.; Faber, G.

    2004-01-01

    The CAP reforms that the EU accepted in June 2003 will partially decouple direct income payments to farmers from production and make these payments conditional on cross-compliance. The reforms are driven by enlargement of EU membership, budgetary constraints, mounting pressures from diverse animal w

  18. The Effectiveness of Caps on Political Lobbying

    NARCIS (Netherlands)

    Matejka, M.; Onderstal, A.M.; De Waegenaere, A.M.B.

    2002-01-01

    In this paper, we analyze a lobby game, modelled as an all-pay auction in which interest groups submit bids in order to obtain a political prize.The bids are restricted to be below a cap imposed by the government.For both an incomplete and a complete information setting we show the following results

  19. INTERNATIONAL WHEAT PRICE TRANSMISSION AND CAP REFORM

    OpenAIRE

    Thompson, Stanley R.; Bohl, Martin T.

    1999-01-01

    We illustrate how CAP policy reforms influence the transmission of world prices to domestic markets. Monthly wheat price data in Germany are used to obtain price transmission elasticities. Correctly accounting for structural breaks and the time series properties of the data yield transmission elasticities that differ dramatically among policy regimes.

  20. Knowledge Management at Cap Gemini Nederland

    NARCIS (Netherlands)

    M.J. Vlaanderen (Marie Jose)

    1998-01-01

    textabstractThe theme of this paper is knowledge management (KM) at an organization that provides information technology (IT) services. It is based on the results of a KM-survey of the Finance Division of Cap Gemini (CG) conducted during the spring of 1997.

  1. ATLAS: End-cap Toroid assembly

    CERN Multimedia

    2006-01-01

    In building 191 and building 180- assembly of this massive piece.To reach the top of the end-cap the cranes has to be used and during the assembly you can see welding and hear many tools running background.

  2. Alpha Shapes and Proteins

    DEFF Research Database (Denmark)

    Winter, Pawel; Sterner, Henrik; Sterner, Peter

    2009-01-01

    We provide a unified description of (weighted) alpha shapes, beta shapes and the corresponding simplicialcomplexes. We discuss their applicability to various protein-related problems. We also discuss filtrations of alpha shapes and touch upon related persistence issues.We claim that the full...... potential of alpha-shapes and related geometrical constructs in protein-related problems yet remains to be realized and verified. We suggest parallel algorithms for (weighted) alpha shapes, and we argue that future use of filtrations and kinetic variants for larger proteins will need such implementation....

  3. Dilemmas in considering β-thalassemia status in subjects with borderline HbA2 values: a pilot study in Eastern India

    Directory of Open Access Journals (Sweden)

    Tridip Chatterjee

    2014-09-01

    Full Text Available Interpreting hemoglobin disorders by high performance liquid chromatography can sometimes deceptive, especially with borderline HbA2 values. It is often problematic, especially in antenatal cases if the partner is a known thalassemia trait. We tested for underlying β-thalassemia mutations in 24 subjects with borderline HbA2 values (between 3.0%-4.0%. Amplification refractory mutation system-polymerase chain reaction was used to detect the five common Indian β-thalassemia mutations: [IVS-I-5 (G>C, Cod 15 (G-A, Cod 8/9 (+G, Fr. 41/42 (-TTCT and Cod 26 (G-A]. β-globin gene sequencing was performed if no mutation was detected. β-globin gene defect was not identified in any of the samples. There was no presence of any of the five common mutations in the small cohort. The average value of HbA2 in 24 normal samples was found to be 3.96. The average values for mean cell volume and mean cell hemoglobin (MCH were found to be 82 and 28.8 pg respectively. Among these 24 normal samples, 13 had MCH below 27 pg and 11 had MCH above 27 pg. On the contrary, one thalassemic family was screened, in which the father of an HbE-β thalassemia patient was found to have HbA2 3.1, being a β-thalassemia carrier. Mutation analysis should be offered to all at-risk couples with borderline HbA2, especially those with values between 3.5% and 4.0% and microcytic hypochromic indices. As, cases with some specific mutational background or clinical condition shows abnormally low HbA2, so mutation screening should be performed in other partner if one partner found to be carrier or patient of thalassemia.

  4. 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 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.

  5. The spectrum of β-thalassemia mutations in Baghdad, Central Iraq.

    Science.gov (United States)

    Al-Allawi, Nasir A S; Al-Mousawi, Bassam M S; Badi, Ameer I A; Jalal, Sana D

    2013-01-01

    While previous studies from Iraq have focused on β-thalassemia (β-thal) mutations in the northern part of the country, inhabited mainly by Kurds, no study of significance has looked at these mutations in central or southern Iraq, which is inhabited by the Arab majority. For the latter purpose this study was initiated and 103 β-thal carriers from Baghdad at the center of the country were investigated using multiplex polymerase chain reaction (PCR) and reverse hybridization followed by sequencing. The results revealed that a total of 17 mutations were implicated, six of which, IVS-I-110 (G>A), IVS-II-1 (G>A), IVS-I-5 (G>C), codons 8/9 (+G), IVS-I-I (G>A) and codon 44 (-C), constituted 78.0% of the mutations characterized. Among the 17 mutations identified, six are reported for the first time from Iraq and include: IVS-I, 25 bp deletion, IVS-II-848 (C>A), -28 (A>C), IVS-I-130 (G>C), IVS-I-128 (T>G) and codons 41/42 (-TTCT). The findings of the current study clearly illustrate the genetic heterogeneity of the population of central Iraq, as demonstrated by the presence of a combination of Mediterranean, Asian Indian, Kurdish, Iranian, Egyptian, Saudi Arabian and Turkish mutations that is reflective of the historical background of this part of the country. PMID:23826747

  6. Prevalence of Endocrinopathies in Turkish Children With β-Thalassemia Major: A Single-Center Study.

    Science.gov (United States)

    Altincik, Ayça; Akin, Mehmet

    2016-07-01

    Present chelation protocols have increased the life quality and survival of the patients with β-thalassemia major (BTM). However, endocrine complications are still mostly experienced. The aim of this study was to determine the prevalence of endocrine complications in children with BTM, and to study the relationship between serum ferritin levels and complications. Forty-five children (female: 23/male: 22, mean age: 12.39±3.72 y) with BTM were enrolled into the study. Blood samples were taken after an overnight fasting, early in the morning from entire study group. Median (range) serum ferritin of the patients was 1365 ng/mL (362 to 5996 ng/mL). The most prevalent endocrine complications were vitamin D insufficiency (54.5%), short stature (42%), pubertal impairment (25% for each sex), and osteopenia (13%), respectively. Ferritin levels were not correlated with anthropometric or laboratory data. Monitoring of growth, vitamin D status, and endocrine functions are essential to achieve a good quality of life in BTM patients. PMID:27164531

  7. Effect of co-inheritance of β-thalassemia and hemochromatosis mutations on iron overload.

    Science.gov (United States)

    López-Escribano, Herminio; Ferragut, Joana F; Parera, Maria M; Guix, Pilar; Castro, José A; Ramon, M Misericòrdia; Picornell, Antònia

    2012-01-01

    Co-inheritance of mutations in the HFE gene underlying hereditary hemocromatosis (HH) may play a role in the variability of iron status in patients with β-thalassemia (β-thal) minor. Different studies have yielded conflicting results: some suggest iron overload might arise from the interaction of the β-thal trait with homozygosity or even heterozygosity for HFE mutations and others that it was unrelated to the HFE genotype. Because of the high frequency of HFE mutations in the Balearic Islands, where the β-thal trait is also moderately common, it is of interest to evaluate the effect of the co-inheritance of mutations in both genes on the severity of iron loading. A retrospective analysis of 142 individuals heterozygous for β-thal was performed to investigate the effect of HFE mutations on iron status of these patients. No significant differences were detected between β-thal carriers with and without HFE mutations. These results suggest that in the Balearic population the β-thal trait does not tend to be aggravated by the co-inheritance of HFE mutations.

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

    Directory of Open Access Journals (Sweden)

    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.

  9. Study on Efficacy of Hepatitis B Immunization in Vaccinated Beta-Thalassemia Children in Tehran

    Directory of Open Access Journals (Sweden)

    Mahmood Mahmoodian Shooshtari

    2010-06-01

    Full Text Available Objective:In thalassemic children, HBV infection is common, thus immunization against HBV will reduce and prevent the rate of infection. The aim of this study was to evaluate the efficacy of HBV immunization and the prevalence of HBV infection in beta-thalassemic children in Tehran. Methods:To assess the efficacy of immunization and determine the immune response of children with beta-thalassemia, sera of 99 children who had received three doses (10/20 μg of recombinant HBV vaccine in months 0, 1, 6, were selected and tested for HBsAg, HBsAb and anti-HBc by ELISA method. Also, these sera were tested for HBV DNA using nested-PCR method. Findings:In 99 beta-thalassemic children, 89 (89.9 % were anti-HBs positive (responders and 10 (10.1% anti-HBs negative (non-responders.Three cases (3.03% were anti-HBc positive and 1(1.01% was HBsAg positive. HBV DNA was not detected in any of them.Conclusion:Our results have revealed that hepatitis B vaccine is highly immunogenic for thalassemic children and particularly well tolerated.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. MRI Evaluation of Liver Iron Concentration in Patients with β-Thalassemia Major

    Directory of Open Access Journals (Sweden)

    Mehran Karimi

    2010-04-01

    Full Text Available β-thalassemia major is a hereditary anemia, characterized by a genetic deficiency in the synthesis of the β-globin chain (1. The main complication of the multiple blood transfusions to these patients is iron overload and the deposition of iron in various organs, such as the reticuloendothelial system, the liver, the heart and the endocrine glands (2.he most reliable method of calculating body iron stores is the biochemical or histochemical assessment of iron in a liver biopsy specimen. Since liver biopsy is an invasive procedure, attempts have been made to use imaging for detection and quantification of liver iron content (4-7. Magnetic resonance imaging (MRI is a technique for the diagnosis of hemochromatosis. Many investigators have shown that hepatic T2 relaxation or intensity ratios in MR images have a significant correlation with hepatic iron content (8-11.In this study, we have evaluated the correlation of the hemochromatosis grades in liver MRIs and liver biopsies to evaluate the precision of liver MRIs in grading hemochromatosis.

  12. Is Vitamin C Supplementation in Patients with β-Thalassemia Major Beneficial or Detrimental?

    Science.gov (United States)

    Darvishi Khezri, Hadi; Emami Zeydi, Amir; Sharifi, Hassan; Jalali, Hossein

    2016-08-01

    Globally, β-thalassemia major (β-TM) is one of the most common hereditary disorders. Multiple blood transfusions, that are a life-saving therapy in patients with β-TM, is a major source of iron overload. Iron overload can lead to significant morbidity and mortality. Research evidence indicates that oxidative stress induced by iron overload, is one of the major precipitating causes of vitamin C deficiency in β-TM patients. It has previously been shown that patients with β-TM have significantly lower levels of vitamin C as compared to healthy individuals. It is believed that vitamin C can reduce both ferric (Fe(3+)) and ferrous (Fe(2+)) ions, and also facilitate the accessibility of iron to chelators through increase of iron release from the reticuloendothelial system. Despite the potential benefits of vitamin C in patients with β-TM, several areas of concern exist that should be addressed by high quality research designs. Some recommendations have been provided through this study. PMID:27492769

  13. Red Blood Cell Antigen Genotyping for Sickle Cell Disease, Thalassemia, and Other Transfusion Complications.

    Science.gov (United States)

    Fasano, Ross M; Chou, Stella T

    2016-10-01

    Since the discovery of the ABO blood group in the early 20th century, more than 300 blood group antigens have been categorized among 35 blood group systems. The molecular basis for most blood group antigens has been determined and demonstrates tremendous genetic diversity, particularly in the ABO and Rh systems. Several blood group genotyping assays have been developed, and 1 platform has been approved by the Food and Drug Administration as a "test of record," such that no phenotype confirmation with antisera is required. DNA-based red blood cell (RBC) phenotyping can overcome certain limitations of hemagglutination assays and is beneficial in many transfusion settings. Genotyping can be used to determine RBC antigen phenotypes in patients recently transfused or with interfering allo- or autoantibodies, to resolve discrepant serologic typing, and/or when typing antisera are not readily available. Molecular RBC antigen typing can facilitate complex antibody evaluations and guide RBC selection for patients with sickle cell disease (SCD), thalassemia, and autoimmune hemolytic anemia. High-resolution RH genotyping can identify variant RHD and RHCE in patients with SCD, which have been associated with alloimmunization. In the future, broader access to cost-efficient, high-resolution RBC genotyping technology for both patient and donor populations may be transformative for the field of transfusion medicine. PMID:27345938

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

    Directory of Open Access Journals (Sweden)

    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.

  15. Targeted Alpha Therapy: From Alpha to Omega

    International Nuclear Information System (INIS)

    This review covers the broad spectrum of Targeted Alpha Therapy (TAT) research in Australia; from in vitro and in vivo studies to clinical trials. The principle of tumour anti-vascular alpha therapy (TAVAT) is discussed in terms of its validation by Monte Carlo calculations of vascular models and the potential role of biological dosimetry is examined. Summmary of this review is as follows: 1. The essence of TAT 2. Therapeutic objectives 3. TAVAT and Monte Carlo microdosimetry 4. Biological dosimetry 5. Preclinical studies 6. Clinical trials 7. What next? 8. Obstacles. (author)

  16. Structure, stability and folding of the alpha-helix.

    Science.gov (United States)

    Doig, A J; Andrew, C D; Cochran, D A; Hughes, E; Penel, S; Sun, J K; Stapley, B J; Clarke, D T; Jones, G R

    2001-01-01

    Pauling first described the alpha-helix nearly 50 years ago, yet new features of its structure continue to be discovered, using peptide model systems, site-directed mutagenesis, advances in theory, the expansion of the Protein Data Bank and new experimental techniques. Helical peptides in solution form a vast number of structures, including fully helical, fully coiled and partly helical. To interpret peptide results quantitatively it is essential to use a helix/coil model that includes the stabilities of all these conformations. Our models now include terms for helix interiors, capping, side-chain interactions, N-termini and 3(10)-helices. The first three amino acids in a helix (N1, N2 and N3) and the preceding N-cap are unique, as their amide NH groups do not participate in backbone hydrogen bonding. We surveyed their structures in proteins and measured their amino acid preferences. The results are predominantly rationalized by hydrogen bonding to the free NH groups. Stabilizing side-chain-side-chain energies, including hydrophobic interactions, hydrogen bonding and polar/non-polar interactions, were measured accurately in helical peptides. Helices in proteins show a preference for having approximately an integral number of turns so that their N- and C-caps lie on the same side. There are also strong periodic trends in the likelihood of terminating a helix with a Schellman or alpha L C-cap motif. The kinetics of alpha-helix folding have been studied with stopped-flow deep ultraviolet circular dichroism using synchrotron radiation as the light source; this gives a far superior signal-to-noise ratio than a conventional instrument. We find that poly(Glu), poly(Lys) and alanine-based peptides fold in milliseconds, with longer peptides showing a transient overshoot in helix content.

  17. Facially amphiphilic thiol capped gold and silver nanoparticles

    OpenAIRE

    Bhat, Shreedhar; Maitra, Uday

    2008-01-01

    A series of bile acid-derived facially amphiphilic thiols have been used to cap sliver and gold nanoparticles. The self-assembling properties of these steroid-capped nanoparticles have been investigated and reported in this article.

  18. Facially amphiphilic thiol capped gold and silver nanoparticles

    Indian Academy of Sciences (India)

    Shreedhar Bhata; Uday Maitra

    2008-11-01

    A series of bile acid-derived facially amphiphilic thiols have been used to cap sliver and gold nanoparticles. The self-assembling properties of these steroid-capped nanoparticles have been investigated and reported in this article.

  19. Community genetics and health approaches for bringing awareness in tribals for the prevention of beta-thalassemia in India

    Directory of Open Access Journals (Sweden)

    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

  20. Buffett’s Alpha

    DEFF Research Database (Denmark)

    Frazzini, Andrea; Kabiller, David; Heje Pedersen, Lasse

    Berkshire Hathaway has realized a Sharpe ratio of 0.76, higher than any other stock or mutual fund with a history of more than 30 years, and Berkshire has a significant alpha to traditional risk factors. However, we find that the alpha becomes insignificant when controlling for exposures to Betting...

  1. Exploring plasmonic coupling in hole-cap arrays

    OpenAIRE

    Schmidt, Thomas M.; Maj Frederiksen; Vladimir Bochenkov; Sutherland, Duncan S

    2015-01-01

    The plasmonic coupling between gold caps and holes in thin films was investigated experimentally and through finite-difference time-domain (FDTD) calculations. Sparse colloidal lithography combined with a novel thermal treatment was used to control the vertical spacing between caps and hole arrays and compared to separated arrays of holes or caps. Optical spectroscopy and FDTD simulations reveal strong coupling between the gold caps and both Bloch Wave-surface plasmon polariton (BW-SPP) modes...

  2. Evaluation of the children with beta-thalassemia in terms of their self-concept, behavioral, and parental attitudes.

    Science.gov (United States)

    Yalçn, Siddika Songül; Durmuşoğlu-Sendoğdu, Mine; Gümrük, Fatma; Unal, Selma; Karg, Eda; Tuğrul, Belma

    2007-08-01

    This study was planned to explore the self-concept, behavioral, and parental attitudes of the children with beta-thalassemia major, and the factors that affect them. The study was undertaken between January and June 2004 at the Hacettepe University Ihsan Doğramaci Children's Hospital, Pediatric Hematology Unit, Ankara and 43 voluntary children with beta-thalassemia major on regular blood transfusion and iron chelation treatment between the ages of 5.0 and 18.0 years were included into the study. Age, sex, birth order, school performance, hemoglobin value, serum ferritin levels, associated illness, splenectomy status, presence of thalassemic sibling or relatives, death of thalassemic relatives, place of residence, maternal and paternal education were recorded. Parental Attitude Research Instrument, Piers-Harris Self-Concept Scale, and Child Behavior Checklist were applied. Higher educated mothers have lower overprotection (P=0.009), parental discordance (P=0.044), and discipline scores (P=0.002) than lower educated mothers. In cases with death of thalassemic relatives, democratic/equality attitude scores were decreased (P=0.034). With stepwise multiple linear regression analysis, splenectomy, good school achievement, absence of death of thalassemic relatives, and serum ferritin levels were found to increase Piers-Harris Self-Concept Scale; however, total behavior problem score was found to decrease with increasing age, splenectomy and decreasing overprotection subscale of Parental Attitude Research Instrument scores. The self-esteem and behavior problems of children with thalassemia depended not only on the variables related exclusively to the child (age, school achievement) and the illness-associated conditions (splenectomy, serum ferritin levels) but also on the parental attitude (overprotection). PMID:17762492

  3. An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project.

    Science.gov (United States)

    Lederer, Carsten W; Basak, A Nazli; Aydinok, Yesim; Christou, Soteroula; El-Beshlawy, Amal; Eleftheriou, Androulla; Fattoum, Slaheddine; Felice, Alex E; Fibach, Eitan; Galanello, Renzo; Gambari, Roberto; Gavrila, Lucian; Giordano, Piero C; Grosveld, Frank; Hassapopoulou, Helen; Hladka, Eva; Kanavakis, Emmanuel; Locatelli, Franco; Old, John; Patrinos, George P; Romeo, Giovanni; Taher, Ali; Traeger-Synodinos, Joanne; Vassiliou, Panayiotis; Villegas, Ana; Voskaridou, Ersi; Wajcman, Henri; Zafeiropoulos, Anastasios; Kleanthous, Marina

    2009-01-01

    Hemoglobin (Hb) disorders are common, potentially lethal monogenic diseases, posing a global health challenge. With worldwide migration and intermixing of carriers, demanding flexible health planning and patient care, hemoglobinopathies may serve as a paradigm for the use of electronic infrastructure tools in the collection of data, the dissemination of knowledge, the harmonization of treatment, and the coordination of research and preventive programs. ITHANET, a network covering thalassemias and other hemoglobinopathies, comprises 26 organizations from 16 countries, including non-European countries of origin for these diseases (Egypt, Israel, Lebanon, Tunisia and Turkey). Using electronic infrastructure tools, ITHANET aims to strengthen cross-border communication and data transfer, cooperative research and treatment of thalassemia, and to improve support and information of those affected by hemoglobinopathies. Moreover, the consortium has established the ITHANET Portal, a novel web-based instrument for the dissemination of information on hemoglobinopathies to researchers, clinicians and patients. The ITHANET Portal is a growing public resource, providing forums for discussion and research coordination, and giving access to courses and databases organized by ITHANET partners. Already a popular repository for diagnostic protocols and news related to hemoglobinopathies, the ITHANET Portal also provides a searchable, extendable database of thalassemia mutations and associated background information. The experience of ITHANET is exemplary for a consortium bringing together disparate organizations from heterogeneous partner countries to face a common health challenge. The ITHANET Portal as a web-based tool born out of this experience amends some of the problems encountered and facilitates education and international exchange of data and expertise for hemoglobinopathies. PMID:19657830

  4. Alpha-particle diagnostics

    Energy Technology Data Exchange (ETDEWEB)

    Young, K.M.

    1991-01-01

    This paper will focus on the state of development of diagnostics which are expected to provide the information needed for {alpha}- physics studies in the future. Conventional measurement of detailed temporal and spatial profiles of background plasma properties in DT will be essential for such aspects as determining heating effectiveness, shaping of the plasma profiles and effects of MHD, but will not be addressed here. This paper will address (1) the measurement of the neutron source, and hence {alpha}-particle birth profile, (2) measurement of the escaping {alpha}-particles and (3) measurement of the confined {alpha}-particles over their full energy range. There will also be a brief discussion of (4) the concerns about instabilities being generated by {alpha}-particles and the methods necessary for measuring these effects. 51 refs., 10 figs.

  5. Imaging alpha particle detector

    Science.gov (United States)

    Anderson, D.F.

    1980-10-29

    A method and apparatus for detecting and imaging alpha particles sources is described. A dielectric coated high voltage electrode and a tungsten wire grid constitute a diode configuration discharge generator for electrons dislodged from atoms or molecules located in between these electrodes when struck by alpha particles from a source to be quantitatively or qualitatively analyzed. A thin polyester film window allows the alpha particles to pass into the gas enclosure and the combination of the glass electrode, grid and window is light transparent such that the details of the source which is imaged with high resolution and sensitivity by the sparks produced can be observed visually as well. The source can be viewed directly, electronically counted or integrated over time using photographic methods. A significant increase in sensitivity over other alpha particle detectors is observed, and the device has very low sensitivity to gamma or beta emissions which might otherwise appear as noise on the alpha particle signal.

  6. CMS end-cap yoke at the detector's assembly site.

    CERN Multimedia

    Patrice Loïez

    2002-01-01

    The magnetic flux generated by the superconducting coil in the CMS detector is returned via an iron yoke comprising three end-cap discs at each end (end-cap yoke) and five concentric cylinders (barrel yoke). This picture shows the first of three end-cap discs (red) seen through the outer cylinder of the vacuum tank which will house the superconducting coil.

  7. Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a β-thalassemia family

    DEFF Research Database (Denmark)

    Xu, Yanwen; Chen, Shengpei; Yin, Xuyang;

    2015-01-01

    leukocyte antigen matching tests. CONCLUSIONS: This retrospective study in a β-thalassemia family demonstrates a method for embryo genome recovery through single-cell sequencing, which permits detection of genetic variations in preimplantation genetic diagnosis. It shows the potential of single......-cell sequencing technology in preimplantation genetic diagnosis clinical practices.......BACKGROUND: The embryonic genome, including genotypes and haplotypes, contains all the information for preimplantation genetic diagnosis, representing great potential for mendelian disorder carriers to conceive healthy babies. METHODS: We developed a strategy to obtain the full embryonic genome...

  8. Frequency of Thalassemia, Iron and Glucose-6Phosphate Dehydrogenase Deficiency Among Turkish Migrating Nomad Children in Southern Iran

    Directory of Open Access Journals (Sweden)

    Mehrabani D

    2009-04-01

    Full Text Available Ferropenia and consequent iron deficiency anemia (IDA, β-thalassemia, and glucose 6-phosphate dehydrogenase (G6PD deficiency are three main common hematological problems in Iran. This study was conducted to investigate the prevalence of these problems in Turkish migrating nomads in southern Iran. From June to October 2006, the blood sample of 152 Turkish migrating nomadic children including 79 (52% males and 73 (48% females were evaluated for iron indices and G6PD deficiency in southern Iran. The family history of thalassemia, favism, and signs and symptoms related to anemia of participants were determined. RBC count, different types of Hb, Hct, MCV, MCH, MCHC, RDW, SI, TIBC and SF were measured immediately after blood sampling. Twenty-seven (17.7% children had serum ferritin (SF level <12 ng/dL, while this low serum ferritin level was similar in both genders. The low hemoglobin (Hb level had a statistical correlation with the low serum ferritin level. Among all participants, the prevalence of G6PD deficiency was 7.2% which was more frequent in males compared to females (8.9% vs. 5.5%. Seven (4.6% children had Hb  3.5 g/dL; and the prevalence of β-thalassemia trait was higher in female children compared with males (5.5% vs. 3.8%. The prevalence of IDA was 17.7%. Although this figure is less than the prevalence found in other developing countries (25-35%; but it shows that Turkish ethnic nomads in southern Iran are still behind the health statues in the industrialized countries (5-8%. The relatively high prevalence of β-thalassemia trait also is a major potential risk; and careful performance of Iranian thalassaemia program is highly suggested. It seems that G6PD deficiency is a prevalent disease in migrating Turkish nomads, and again establishment of educational programs, and investigation of dietary habits of Turkish migrating nomads on how and by whom the fava beans are consumed; seems to be a good way to prevent favism.

  9. Greening CAP payments: a missed opportunity?

    Energy Technology Data Exchange (ETDEWEB)

    Matthews, Alan

    2013-01-15

    At an important point in the current reform of the Common Agricultural Policy (CAP), a new IIEA policy brief by Professor Alan Matthews, one of the EU’s foremost experts on the topic, considers proposals to green direct farm payments. Professor Matthews argues that proposed greening of direct payments – the key innovation in the current round of CAP Reform – look likely to fail. While greening may survive as a concept, the likely outcome of the negotiations between Agriculture Ministers and the European Parliament will deliver little practical environmental benefit. The paper examines the rationale underpinning greening, arguing that it exists to justify the continuation of a large agricultural budget, explores reasons for the apparent failure of the proposals, and reflects on the implications for future efforts to better integrate environmental objectives into EU agriculture policy. This is the first in a series of Environment Nexus policy briefs by leading experts in the fields of agriculture, energy, climate change and water.

  10. Should we geoengineer larger ice caps?

    CERN Document Server

    Haqq-Misra, Jacob

    2015-01-01

    The climate of Earth is susceptible to catastrophes that could threaten the longevity of human civilization. Geoengineering to reduce incoming solar radiation has been suggested as a way to mediate the warming effects of contemporary climate change, but a geoengineering program for thousands of years could also be used to enlarge the size of the polar ice caps and create a permanently cooler climate. Such a large ice cap state would make Earth less susceptible to climate threats and could allow human civilization to survive further into the future than otherwise possible. Intentionally extending Earth's glacial coverage will require uninterrupted commitment to this program for millenia but would ultimately reach a cooler equilibrium state where geoengineering is no longer needed. Whether or not this program is ever attempted, this concept illustrates the need to identify preference among potential climate states to ensure the long-term success of civilization.

  11. Status of the AlCap experiment

    CERN Document Server

    Litchfield, R Phillip

    2015-01-01

    The AlCap experiment is a joint project between the COMET and Mu2e collaborations. Both experiments intend to look for the lepton-flavour violating conversion $\\mu + A \\rightarrow e + A$, using tertiary muons from high-power pulsed proton beams. In these experiments the products of ordinary muon capture in the muon stopping target are an important concern, both in terms of hit rates in tracking detectors and radiation damage to equipment. The goal of the AlCap experiment is to provide precision measurements of the products of nuclear capture on Aluminium, which is the favoured target material for both COMET and Mu2e. The results will be used for optimising the design of both conversion experiments, and as input to their simulations. Data was taken in December 2013 and is currently being analysed.

  12. ATLAS End-cap Part II

    CERN Multimedia

    2007-01-01

    The epic journey of the ATLAS magnets is drawing to an end. On Thursday 12 July, the second end-cap of the ATLAS toroid magnet was lowered into the cavern of the experiment with the same degree of precision as the first (see Bulletin No. 26/2007). This spectacular descent of the 240-tonne component, is one of the last transport to be completed for ATLAS.

  13. Polar cap size metrics study at CCMC

    Science.gov (United States)

    Rastaetter, L.; Kuznetsova, M. M.; Hesse, M.; Gombosi, T. I.; Raeder, J.; Weimer, D.

    2005-12-01

    The Community-Coordinated Modeling Center (CCMC) tests space physics models covering space from the Sun's corona to the Earth's ionosphere and makes them available for researchers through a run-on-request capability. The polar cap size and location as observed by global auroral imagers is used as a basis model to study the performance of global MHD simulation models and statistical models of the auroral ionosphere. With good confidence one can assume that auroral emissions are located within the closed magnetic field lines in a narrow region adjacent to the boundary of the open field line region of the polar cap. In this study we are using imager data from POLAR (FUV) for several events from 1997 to 2000 for which reasonable coverage is available. Simulation runs have been performed using the global magnetospheric models BATSRUS (T. Gombosi et al., U. Michigan) and OpenGGCM (J. Raeder, U. New Hampshire) as well as the Weimer (2000,2005) field-aligned current models (D. Weimer, Mission Research Corp.) fed with upstream solar wind data from the ACE or Geotail satellites. In addition to direct field line tracings available from the 3D MHD model outputs, we use field-aligned currents from both MHD models and the Weimer-2K model to determine the polar cap boundary by using the position of the maximum absolute FAC value in 16 local time sectors. We define skill scores that measure the agreement in the polar cap sizes and location between measurements and models as an example of implementations of metrics to track model performance and apply the analysis to a number of storm event days.

  14. Particle Entrainment in Spherical-Cap Wakes

    OpenAIRE

    Warncke, N.G.W.; Delfos, R.; Ooms, G.; Westerweel, J.

    2011-01-01

    In this work we study the preferential concentration of small particles in the turbulent wake behind a spherical-cap object. We present a model predicting the mean particle concentration in the near-wake as a function of the characteristic Stokes number of the problem, the turbulence level and the Froude number. We compare the model with our experimental results on this flow, measured in a vertical water tunnel.

  15. Translated origin spherical cap harmonic analysis

    OpenAIRE

    De Santis, A.; Istituto Nazionale di Geofisica, Roma, Italy

    1991-01-01

    The method of spherical cap harmonic analysis (SCHA), due to Haines (1985) is appropriate for regional geomagnetic field modelling as it includes the required potential field constraints and, for a given number of model parameters, describes shorter wavelength features than a global spherical harmonic model. If the origin of the coordinate system is moved from the centre of the Earth towards the surface then the Earth's surface is no longer equidistant from the origin. At the Earth's surface ...

  16. Pulp-Capping with Mineral Trioxide Aggregate

    Directory of Open Access Journals (Sweden)

    Peycheva Kalina

    2015-11-01

    Full Text Available There are two considerations for direct pulp capping - accidental mechanical pulp exposure and exposure caused by caries. Mineral trioxide aggregate (MTA was used as pulp-capping material to preserve the vitality of the pulpal tissues. Follow-up examinations revealed that treatment was successful in preserving pulpal vitality and continued development of the tooth. On the basis of available information, it appears that MTA is the material of choice for some clinical applications. Material and methods: Cases 18 - 8 teeth with grey MTA, 10 teeth with white MTA; diagnose: Pulpitis chronica ulcerosa, Electro pulpal test (EOD - 30-35 μA, pre-clinical X-ray - without changes in the structures, follow ups for 4 years. Successful treatments: without clinical symptoms and changes in the X-rays: 5 teeth with grey MTA, 8 teeth with white MTA for period of 4 years. Unsuccessful treatments: Clinical symptoms and sometimes changes in the X-ray: 3 with grey MTA, 2 with white MTA. MTA is an appropriate material for pulp-capping and follow-up examinations revealed that the treatment was successful in preserving pulpal vitality.

  17. The alpha channeling effect

    Energy Technology Data Exchange (ETDEWEB)

    Fisch, N. J.

    2015-12-10

    Alpha particles born through fusion reactions in a tokamak reactor tend to slow down on electrons, but that could take up to hundreds of milliseconds. Before that happens, the energy in these alpha particles can destabilize on collisionless timescales toroidal Alfven modes and other waves, in a way deleterious to energy confinement. However, it has been speculated that this energy might be instead be channeled into useful energy, so as to heat fuel ions or to drive current. Such a channeling needs to be catalyzed by waves Waves can produce diffusion in energy of the alpha particles in a way that is strictly coupled to diffusion in space. If these diffusion paths in energy-position space point from high energy in the center to low energy on the periphery, then alpha particles will be cooled while forced to the periphery. The energy from the alpha particles is absorbed by the wave. The amplified wave can then heat ions or drive current. This process or paradigm for extracting alpha particle energy collisionlessly has been called alpha channeling. While the effect is speculative, the upside potential for economical fusion is immense. The paradigm also operates more generally in other contexts of magnetically confined plasma.

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

    Directory of Open Access Journals (Sweden)

    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.

  19. Quality of Life in Patients with Thalassemia Major in a Developing Country

    International Nuclear Information System (INIS)

    Objective: To determine the problems faced by thalassemic patients in their personal, psychological and social life. Study Design: A cross-sectional multi-centre survey. Place and Duration of Study: Karachi, Lahore and Quetta Centres of Fatimid Foundation, from October 2009 to October 2010. Methodology: An indigenously developed Qualifty of Life (QoL) questionnaire modified from SF-36 questionnaire was administered to 101 transfusion dependent subjects suffering from thalassemia major. Variables were analyzed using SPSS version 15 for descriptive statistics. Results: The mean age of the subjects was 10.5 years ranging from 6 - 21 years. Less than one third of the patients felt that their health was slightly worse as compared to last year. Forty five (44%) of the patients felt loneliness due to their disease. Parents of 36 (35.6%) of the children at times did not allow their children to play because of their disease. Twenty eight (27.7%) stated difficulty in mingling with children of their age. Seventy one (70.3%) of the patients reported that at some or all times they were worried about their future life and career while 70 (69.3%) admitted being taken extra care of by their friends and 56 (55.4%) by their teachers. Conclusion: The quality of life of surveyed thalassemic patients was immensely affected. Having physical impairments, social stresses, financial burdens and problems with their education and career make them very much vulnerable to psychological trauma very early in their life. All of this creates a hindrance in their way of developing into autonomous functioning adults. (author)

  20. Towards a prevention program for β-thalassemia. The molecular spectrum in East Java, Indonesia.

    Science.gov (United States)

    Hernanda, Pratika Yuhyi; Tursilowati, Luluk; Arkesteijn, Sandra G J; Ugrasena, I Dewa Gede; Larasati, Marian C Shanty; Soeatmadji, Sentot Mustajab; Giordano, Piero C; Harteveld, Cornelis L

    2012-01-01

    Defining the spectrum of specific thalassemia mutations is an important issue when planning prevention programs in large multi ethnic countries as is Indonesia. In a first attempt to define the prevalence of the common mutations in East Java we selected a cohort of 17 transfusion-dependent patients attending the Dr. Soetomo Hospital, Surabaya, Indonesia. After basic diagnostics we performed direct DNA sequencing for all β-globin genes. The results obtained on 34 independent chromosomes revealed the following prevalence rates: c.79 G>A p. Glu27Lys (Hb E) 47.0%; c.92+5G>C (IVS-I-5 G>C) 20.6%; c.109_110 delC p.Pro37Leu fs X7 [codon 35 (-C)] 17.6%; c.46del T p.Trp16Gly fsX4 [codon 15 (-T)] 5.9%; c.126_129delCTTT p. Phe42Leu fs X19 (codons 41/42) 2.9%; c.316-197 C>T [IVS-II-654 (C>T)] 2.9%; c*112 A>G (PolyA) 2.9%. Our preliminary results show that the distribution of the prevalent mutations in our cohort is quite homogeneous but with different forms than previously reported. This indicates that more studies on a larger scale and in different geographical areas are needed to refine our provisional results and to characterize the molecular background of the disease in the whole country.

  1. Treating thalassemia major-related iron overload: the role of deferiprone.

    Science.gov (United States)

    Berdoukas, Vasilios; Farmaki, Kallistheni; Carson, Susan; Wood, John; Coates, Thomas

    2012-01-01

    Over the last 20 years, management for thalassemia major has improved to the point where we predict that patients' life expectancy will approach that of the normal population. These outcomes result from safer blood transfusions, the availability of three iron chelators, new imaging techniques that allow specific organ assessment of the degree of iron overload, and improvement in the treatment of hepatitis. In October 2011, the Food and Drug Administration licensed deferiprone, further increasing the available choices for iron chelation in the US. The ability to prescribe any of the three chelators as well as their combinations has led to more effective reduction of total body iron. The ability to determine the amount of iron in the liver and heart by magnetic resonance imaging allows the prescription of the most appropriate chelation regime for patients and to reconsider what our aims with respect to total body iron should be. Recent evidence from Europe has shown that by normalizing iron stores not only are new morbidities prevented but also reversal of many complications such as cardiac failure, hypothyroidism, hypogonadism, impaired glucose tolerance, and type 2 diabetes can occur, improving survival and patients' quality of life. The most effective way to achieve normal iron stores seems to be with the combination of deferoxamine and deferiprone. Furthermore, outcomes should continue to improve in the future. Starting relative intensive chelation in younger children may prevent short stature and abnormal pubertal maturation as well as other iron-related morbidities. Also, further information should become available on the use of other combinations in chelation treatment, some of which have been used only in a very limited fashion to date. All these advances in management require absolute cooperation and understanding of parents, children, and, subsequently, the patients themselves. Only with such cooperation can normal long-term survival be achieved, as

  2. What regulates hepcidin in poly-transfused β-Thalassemia Major: Erythroid drive or store drive?

    Directory of Open Access Journals (Sweden)

    Richa Chauhan

    2014-01-01

    Full Text Available Background: Hepcidin, a key regulator of iron homeostasis, is increased by iron overload and inflammation while suppressed by hypoxia. In spite of iron overload in β-Thalassemia Major (β-TM, a paradoxical decrease in hepcidin is observed. Aim: To assess the opposing effects of enhanced erythropoiesis due to anemia and iron overloading on hepcidin in β-TM patients. Setting and Design: This prospective observational study was done at our tertiary care hospital. Materials and Methods: Eighty-three pediatric polytransfused (> 20 transfusions patients of β-TM were compared with 70 children who served as controls. Serum assays for ferritin, transferrin receptors (sTfR and hepcidin were performed. Statistical analysis: Independent Student t test was used to compare variables between both the groups. A Pearson correlation coefficient was used to find any correlation between ferritin, sTfR and hepcidin. Results: The mean value of hepcidin in β-TM children was 13.88±10.68 ng/ml (range, 0.9-60 ng/ml and showed significant negative correlation with sTfR (r = -0.296, P < 0.0066. However, there was no correlation of hepcidin with ferritin. Ferritin and sTfR were significantly elevated in β-TM children compared to controls (P < 0.001. The mean serum hepcidin/ferritin index in the study group (0.00552 was significantly lower (P value < 0.001 than the controls (0.378 thus indicating inappropriate levels of hepcidin to iron overload. Conclusion: In polytransfused β-TM children increased iron demand dominates over iron overload in regulating hepcidin. In spite of excessive iron load, the inappropriate hepcidin levels may further contribute to iron overload enhancing iron toxicity.

  3. Better differential diagnosis of iron deficiency anemia from beta-thalassemia trait

    Directory of Open Access Journals (Sweden)

    Fakher Rahim

    2009-09-01

    Full Text Available Objective: Iron deficiency anemia (IDA and beta-thalassemia trait (ß-TT are the most common forms of microcytic anemia. This study was conducted to compare the validity of various discrimination indices in differentiating β-TT from IDA by calculating their sensitivity, specificity and Youden's index.Methods: Totally 323 subjects (173 children and 150 adults with microcytic anemia were involved in this study. We calculated 10 discrimination indices in all patients with IDA and β-TT. We divided the patients into two different groups as younger or older than 10 years. Results: None of the indices showed sensitivity and specificity of 100% in the patients older than 10 years, and in the patients younger than 10 years, only Shine & Lal index showed sensitivity close to 90% and specificity of 100%. The most accurate discriminative index for patients younger than 10 years was Shine & Lal and for those older than 10 years it was RDW index. According to Youden's index, Shine & Lal and RBC count showed the greatest diagnostic value in patients younger than 10 years and RDW and RBC count indices in those older than 10 years. Conclusion: None of the indices was completely sensitive and specific in differentiation between β-TT and IDA. Mean and median mean cell Hb density (MCHD were very close to normal values in both IDA and β-TT patients, but in the case of mean density of Hb/liter (MDHL, we found that the mean and median were significantly higher than normal values in β-TT and lower than normal values in IDA patients. In our study, Youden's index of RBC and Shine & Lal were the highest and most reliable indices in differentiating β-TT from IDA in the patients younger than 10 years. For patients older than 10 years, the most reliable discrimination indices were RBC and RDW.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  6. What Lies Below a Martian Ice Cap

    Science.gov (United States)

    2008-01-01

    [figure removed for brevity, see original site] Click on image for larger annotated version This image (top) taken by the Shallow Radar instrument on NASA's Mars Reconnaissance Orbiter reveals the layers of ice, sand and dust that make up the north polar ice cap on Mars. It is the most detailed look to date at the insides of this ice cap. The colored map below the radar picture shows the topography of the corresponding Martian terrain (red and white represent higher ground, and green and yellow lower). The radar image reveals four never-before-seen thick layers of ice and dust separated by layers of nearly pure ice. According to scientists, these thick ice-free layers represent approximately one-million-year-long cycles of climate change on Mars caused by variations in the planet's tilted axis and its eccentric orbit around the sun. Adding up the entire stack of ice gives an estimated age for the north polar ice cap of about 4 million years a finding that agrees with previous theoretical estimates. The ice cap is about 2 kilometers (1.2 miles) thick. The radar picture also shows that the boundary between the ice layers and the surface of Mars underneath is relatively flat (bottom white line on the right). This implies that the surface of Mars is not sagging, or bending, under the weight of the ice cap and this, in turn, suggests that the planet's lithosphere, a combination of the crust and the strong parts of the upper mantle, is thicker than previously thought. A thicker lithosphere on Mars means that temperatures increase more gradually with depth toward the interior. Temperatures warm enough for water to be liquid are therefore deeper than previously thought. Likewise, if liquid water does exist in aquifers below the surface of Mars, and if there are any organisms living in that water, they would have to be located deeper in the planet. The topography data are from Mars Orbiter Laser Altimeter, which was flown on NASA's Mars Global Surveyor mission. NPLD stands

  7. 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 and Gra...

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

    Directory of Open Access Journals (Sweden)

    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.

  9. Greenhouse gas emissions through cap barriers of landfills

    Energy Technology Data Exchange (ETDEWEB)

    Gourc, J.P.; Staub, M.; Simonin, R. [Grenoble Univ. (France). LTHE

    2009-07-01

    A study was conducted to examine the environmental impacts of landfill cap covers used to produce biogas. The sensitivity of the environmental performance of landfills on biogas collection and recovery systems as well as on cap cover characteristics was investigated. The study examined both soil and geosynthetic landfill cap covers used to maintain impermeability at landfill sites as well as to enable biogas recovery. Two types of cap cover were discussed: (1) a cover that enabled passive wetting of the landfill wastes through rainfall; and (2) an impermeable cap used to control leachate recirculation. The environmental impacts of both caps were discussed. The study showed that landfill cap covers are a significant means of sequestering greenhouse gases (GHGs).

  10. Synthesis of N-hydroxycinnamides capped with a naturally occurring moiety as inhibitors of histone deacetylase.

    Science.gov (United States)

    Huang, Wei-Jan; Chen, Ching-Chow; Chao, Shi-Wei; Lee, Shoei-Sheng; Hsu, Fen-Lin; Lu, Yeh-Lin; Hung, Ming-Fang; Chang, Chung-I

    2010-04-01

    Histone deacetylase (HDAC) inhibitors are regarded as promising therapeutics for the treatment of cancer. All reported HDAC inhibitors contain three pharmacophoric features: a zinc-chelating group, a hydrophobic linker, and a hydrophobic cap for surface recognition. In this study we investigated the effectiveness of osthole, a hydrophobic Chinese herbal compound, as the surface recognition cap in hydroxamate-based compounds as inhibitors of HDAC. Nine novel osthole-based N-hydroxycinnamides were synthesized and screened for enzyme inhibition activity. Compounds 9 d, 9 e, 9 g exhibited inhibitory activities (IC(50)=24.5, 20.0, 19.6 nM) against nuclear HDACs in HeLa cells comparable to that of suberoylanilide hydroxamic acid (SAHA; IC(50)=24.5 nM), a potent inhibitor clinically used for the treatment of cutaneous T-cell lymphoma (CTCL). While compounds 9 d and 9 e showed SAHA-like activity towards HDAC1 and HDAC6, compound 9 g was more selective for HDAC1. Compound 9 d exhibited the best cellular effect, which was comparable to that of SAHA, of enhancing acetylation of either alpha-tubulin or histone H3. Molecular docking analysis showed that the osthole moiety of compound 9 d may interact with the same hydrophobic surface pocket exploited by SAHA and it may be modified to provide class-specific selectivity. These results suggest that osthole is an effective hydrophobic cap when incorporated into N-hydroxycinnamide-derived HDAC inhibitors. PMID:20209563

  11. Local versus nonlocal $\\alpha\\alpha$ interactions in $3\\alpha$ description of $^{12}$C

    CERN Document Server

    Suzuki, Y; Descouvemont, P; Fujiwara, Y; Matsumura, H; Orabi, M; Theeten, M

    2008-01-01

    Local $\\alpha \\alpha$ potentials fail to describe $^{12}$C as a $3\\alpha$ system. Nonlocal $\\alpha \\alpha$ potentials that renormalize the energy-dependent kernel of the resonating group method allow interpreting simultaneously the ground state and $0^+_2$ resonance of $^{12}$C as $3\\alpha$ states. A comparison with fully microscopic calculations provides a measure of the importance of three-cluster exchanges in those states.

  12. Decision-making in adult thalassemia patients undergoing unrelated bone marrow transplantation: quality of life, communication and ethical issues.

    Science.gov (United States)

    Caocci, G; Pisu, S; Argiolu, F; Giardini, C; Locatelli, F; Vacca, A; Orofino, M G; Piras, E; De Stefano, P; Addari, M C; Ledda, A; La Nasa, G

    2006-01-01

    Bone marrow transplantation (BMT) represents a potentially curative treatment of thalassemia. For patients without an HLA-identical sibling donor, recourse to an unrelated donor is a practicable option but the candidates and their families are faced with a difficult decision. They can either choose to continue the supportive therapy, with no chance of definitive cure, or they accept the mortality risk of BMT in the hope of obtaining a definitive resolution of the disease. We investigated the communication strategies and the post transplantation quality of life (QoL) in 19 adult thalassemia patients surviving after an unrelated donor BMT. The patients were given two questionnaires: a questionnaire to evaluate pre-transplantation communication factors and the EORTC QLQ-C30 questionnaire to assess global QoL. All patients were satisfied with the communication modalities employed by the physicians. The global post transplantation QoL in our patient cohort was found to be good. The approach used in this study may offer a contribution to understanding the decision-making process leading to the choice of a treatment with a high mortality risk for a chronic, non-malignant disease. Finally, some ethical issues of this therapeutic approach are briefly addressed. PMID:16299541

  13. Erythrocyte Catalase Activity in More Frequent Microcytic Hypochromic Anemia: Beta-Thalassemia Trait and Iron Deficiency Anemia

    Directory of Open Access Journals (Sweden)

    Sandra Stella Lazarte

    2015-01-01

    Full Text Available Most common microcytic hypochromic anemias are iron deficiency anemia (IDA and β-thalassemia trait (BTT, in which oxidative stress (OxS has an essential role. Catalase causes detoxification of H2O2 in cells, and it is an indispensable antioxidant enzyme. The study was designed to measure erythrocyte catalase activity (ECAT in patients with IDA (10 or BTT (21, to relate it with thalassemia mutation type (β0 or β+ and to compare it with normal subjects (67. Ninety-eight individuals were analyzed since September 2013 to June 2014 in Tucumán, Argentina. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA2, catalase, and iron status were performed. β-thalassemic mutations were determined by real-time PCR. Normal range for ECAT was 70,0–130,0 MU/L. ECAT was increased in 14% (3/21 of BTT subjects and decreased in 40% (4/10 of those with IDA. No significant difference (p=0,245 was shown between normal and BTT groups, while between IDA and normal groups the difference was proved to be significant (p=0,000. In β0 and β+ groups, no significant difference (p=0,359 was observed. An altered ECAT was detected in IDA and BTT. These results will help to clarify how the catalase activity works in these anemia types.

  14. THERAPEUTIC VALUE OF COMBINED THERAPY WITH DEFERASIROX AND SILYMARIN ON IRON OVERLOAD IN CHILDREN WITH BETA THALASSEMIA

    Directory of Open Access Journals (Sweden)

    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.

  15. Characterization of cap binding proteins associated with the nucleus

    International Nuclear Information System (INIS)

    Eucaryotic mRNAs a carry 7-methylguanosine triphosphate residue (called cap structure) at their 5' terminus. The cap plays an important role in RNA recognition. Cap binding proteins (CBP) of HeLa cells were identified by photoaffinity labelling using the cap analogue γ-(32P)-(4-(benzoyl-phenyl)methylamido)-7-methylguanosine-5'-triphosphate (BP-m7GTP). Photoreaction of this cap analogue with HeLa cell initiation factors resulted in specific labelling of two polypeptides of Msub(r) 37000 and 26000. The latter was also labelled in crude initiation factors prepared from reticulocytes and is identical to the cap binding protein CBP I previously identified. These cap binding proteins were also affinity labelled in poliovirus infected cell extracts. Photoaffinity reaction with BP-m7GTP of whole HeLa cell homogenate showed three additional polypeptides with Msub(r) 120000, 89000 and 80000. These cap binding proteins were found to be associated with the nucleus and are therefore referred to as nuclear cap binding proteins, i.e. NCBP 1, NCBP 2 and NCBP 3. They were also present in splicing extracts. Photoaffinity labelling in these nuclear extracts was differentially inhibited by various cap analogues and capped mRNAs. Affinity chromatography on immobilized globin mRNA led to a partial separation of the three nuclear cap binding proteins. Chromatography on m7GTP-Sepharose resulted in a specific binding of NCBP 3. The different behaviour of the cap binding proteins suggests that they are functionally distinct and that they might be involved in different processes requiring cap recognition. (Author)

  16. Cold atmospheric plasma (CAP changes gene expression of key molecules of the wound healing machinery and improves wound healing in vitro and in vivo.

    Directory of Open Access Journals (Sweden)

    Stephanie Arndt

    Full Text Available Cold atmospheric plasma (CAP has the potential to interact with tissue or cells leading to fast, painless and efficient disinfection and furthermore has positive effects on wound healing and tissue regeneration. For clinical implementation it is necessary to examine how CAP improves wound healing and which molecular changes occur after the CAP treatment. In the present study we used the second generation MicroPlaSter ß® in analogy to the current clinical standard (2 min treatment time in order to determine molecular changes induced by CAP using in vitro cell culture studies with human fibroblasts and an in vivo mouse skin wound healing model. Our in vitro analysis revealed that the CAP treatment induces the expression of important key genes crucial for the wound healing response like IL-6, IL-8, MCP-1, TGF-ß1, TGF-ß2, and promotes the production of collagen type I and alpha-SMA. Scratch wound healing assays showed improved cell migration, whereas cell proliferation analyzed by XTT method, and the apoptotic machinery analyzed by protein array technology, was not altered by CAP in dermal fibroblasts. An in vivo wound healing model confirmed that the CAP treatment affects above mentioned genes involved in wound healing, tissue injury and repair. Additionally, we observed that the CAP treatment improves wound healing in mice, no relevant side effects were detected. We suggest that improved wound healing might be due to the activation of a specified panel of cytokines and growth factors by CAP. In summary, our in vitro human and in vivo animal data suggest that the 2 min treatment with the MicroPlaSter ß® is an effective technique for activating wound healing relevant molecules in dermal fibroblasts leading to improved wound healing, whereas the mechanisms which contribute to these observed effects have to be further investigated.

  17. Cold atmospheric plasma (CAP) changes gene expression of key molecules of the wound healing machinery and improves wound healing in vitro and in vivo.

    Science.gov (United States)

    Arndt, Stephanie; Unger, Petra; Wacker, Eva; Shimizu, Tetsuji; Heinlin, Julia; Li, Yang-Fang; Thomas, Hubertus M; Morfill, Gregor E; Zimmermann, Julia L; Bosserhoff, Anja-Katrin; Karrer, Sigrid

    2013-01-01

    Cold atmospheric plasma (CAP) has the potential to interact with tissue or cells leading to fast, painless and efficient disinfection and furthermore has positive effects on wound healing and tissue regeneration. For clinical implementation it is necessary to examine how CAP improves wound healing and which molecular changes occur after the CAP treatment. In the present study we used the second generation MicroPlaSter ß® in analogy to the current clinical standard (2 min treatment time) in order to determine molecular changes induced by CAP using in vitro cell culture studies with human fibroblasts and an in vivo mouse skin wound healing model. Our in vitro analysis revealed that the CAP treatment induces the expression of important key genes crucial for the wound healing response like IL-6, IL-8, MCP-1, TGF-ß1, TGF-ß2, and promotes the production of collagen type I and alpha-SMA. Scratch wound healing assays showed improved cell migration, whereas cell proliferation analyzed by XTT method, and the apoptotic machinery analyzed by protein array technology, was not altered by CAP in dermal fibroblasts. An in vivo wound healing model confirmed that the CAP treatment affects above mentioned genes involved in wound healing, tissue injury and repair. Additionally, we observed that the CAP treatment improves wound healing in mice, no relevant side effects were detected. We suggest that improved wound healing might be due to the activation of a specified panel of cytokines and growth factors by CAP. In summary, our in vitro human and in vivo animal data suggest that the 2 min treatment with the MicroPlaSter ß® is an effective technique for activating wound healing relevant molecules in dermal fibroblasts leading to improved wound healing, whereas the mechanisms which contribute to these observed effects have to be further investigated.

  18. Bremsstrahlung in $\\alpha$ Decay

    CERN Document Server

    Takigawa, N; Hagino, K; Ono, A; Brink, D M

    1999-01-01

    A quantum mechanical analysis of the bremsstrahlung in $\\alpha$ decay of $^{210}$Po is performed in close reference to a semiclassical theory. We clarify the contribution from the tunneling, mixed, outside barrier regions and from the wall of the inner potential well to the final spectral distribution, and discuss their interplay. We also comment on the validity of semiclassical calculations, and the possibility to eliminate the ambiguity in the nuclear potential between the alpha particle and daughter nucleus using the bremsstrahlung spectrum.

  19. ALPHA-2: the sequel

    CERN Multimedia

    Katarina Anthony

    2012-01-01

    While many experiments are methodically planning for intense works over the long shutdown, there is one experiment that is already working at full steam: ALPHA-2. Its final components arrived last month and will completely replace the previous ALPHA set-up. Unlike its predecessor, this next generation experiment has been specifically designed to measure the properties of antimatter.   The ALPHA team lower the new superconducting solenoid magnet into place. The ALPHA collaboration is working at full speed to complete the ALPHA-2 set-up for mid-November – this will give them a few weeks of running before the AD shutdown on 17 December. “We really want to get some experience with this device this year so that, if we need to make any changes, we will have time during the long shutdown in which to make them,” says Jeffrey Hangst, ALPHA spokesperson. “Rather than starting the 2014 run in the commissioning stage, we will be up and running from the get go.&...

  20. 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

    International Nuclear Information System (INIS)

    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

  1. 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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  2. Resting alpha activity predicts learning ability in alpha neurofeedback

    OpenAIRE

    Wenya eNan; Feng eWan; Mang I eVai; Agostinho eRosa

    2014-01-01

    Individuals differ in their ability to learn how to regulate the alpha activity by neurofeedback. This study aimed to investigate whether the resting alpha activity is related to the learning ability of alpha enhancement in neurofeedback and could be used as a predictor. A total of 25 subjects performed 20 sessions of individualized alpha neurofeedback in order to learn how to enhance activity in the alpha frequency band. The learning ability was assessed by three indices respectively: the tr...

  3. Cytostatic effect of L-lysine-. cap alpha. -oxidase from Trichoderma harzianum Rifai and Trichoderma viride

    Energy Technology Data Exchange (ETDEWEB)

    Khaduev, S.Kh.; Zhukova, O.S.; Dobrynin, Ya.V.; Soda, K.; Berezov, T.T.

    1987-09-01

    Comparative data is given on the effect of the new antitumor enzyme LO, obtained from a Soviet strain of Trichoderma harzianum Rifai and from Trichoderma viride from Japan, on DNA and RNA synthesis in human ovarian carcinoma cells in culture and also the results of the action of LO from Tr. harzianum Rifai on protein synthesis. Specific precursors were added to the samples 1 hour before the end of incubation time: /sup 3/H-thymidine, the precursor for DNA synthesis, /sup 3/H-uridine for RNA synthesis, and /sup 3/H-leucine for protein synthesis.

  4. GPS/CAPS dual-mode software receiver

    Institute of Scientific and Technical Information of China (English)

    NING ChunLin; SHI HuLi; HU Chao

    2009-01-01

    The positioning of the GPS or Chinese Area Positioning System (CAPS) software receiver was developed on a software receiver platform.The structure of the GPSlCAPS dual-mode software receiver was put forward after analyzing the differences in the satellite identification,ranging code,spread spectrum,coordinate system,time system,carrier band,and navigation data between GPS and CAPS.Based on Matlab software on a personal computer,baseband signal processing and positioning procedures were completed using real GPS and CAPS radio frequency signals received by two antennas.Three kinds of experiments including GPS positioning,CAPS positioning,and GPS/CAPS positioning were carried out.Stability and precision of the results were analyzed and compared.The experimental results show that the precision of CAPS is similar to that of GPS,while the positioning precision of the GPS/CAPS dual-mode software receiver is 1-2 m higher than that of CAPS or GPS.The smallest average variance of the positioning can be obtained by using the GPS/CAPS dual-mode software receiver.

  5. GPS/CAPS dual-mode software receiver

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    The positioning of the GPS or Chinese Area Positioning System (CAPS) software receiver was developed on a software receiver platform. The structure of the GPS/CAPS dual-mode software receiver was put forward after analyzing the differences in the satellite identification, ranging code, spread spectrum, coordinate system, time system, carrier band, and navigation data between GPS and CAPS. Based on Matlab software on a personal computer, baseband signal processing and positioning procedures were completed using real GPS and CAPS radio frequency signals received by two antennas. Three kinds of experiments including GPS positioning, CAPS positioning, and GPS/CAPS positioning were carried out. Stability and precision of the results were analyzed and compared. The experimental results show that the precision of CAPS is similar to that of GPS, while the positioning precision of the GPS/CAPS dual-mode software receiver is 1-2 m higher than that of CAPS or GPS. The smallest average variance of the positioning can be obtained by using the GPS/CAPS dual-mode software receiver.

  6. Alpha particles in fusion research

    International Nuclear Information System (INIS)

    This collection of 39 (mostly view graph) presentations addresses various aspects of alpha particle physics in thermonuclear fusion research, including energy balance and alpha particle losses, transport, the influence of alpha particles on plasma stability, helium ash, the transition to and sustainment of a burning fusion plasma, as well as alpha particle diagnostics. Refs, figs and tabs

  7. Quantifying Solar Wind-Polar Cap Interactions

    Science.gov (United States)

    Urban, K. D.; Gerrard, A. J.; Lanzerotti, L. J.; Weatherwax, A. T.; Huang, Y.

    2015-12-01

    It is well known that the solar wind is a major driver of ultra-low frequency [ULF] power at ground locations from low to high latitudes. However, due to the scarcity of deep polar cap magnetometer sites, it is not clear when, where, or if this is true deep inside the polar cap on open field lines where interplanetary magnetic field [IMF] ULF waves could possibly be directly detected. Given recent observations of very large Joule heating estimates from DMSP data, together with the large heating reported by the CHAMP satellite, it is important to understand the degree to which ULF waves in the solar wind can directly cause such heating. Using a time series of lagged correlation sequences ("dynamic correlograms") between GSM Bz ULF power (computed via data obtained from NASA's Advanced Composition Explorer [ACE] ahead of Earth in the solar wind) and the horizontal ULF power (H^2=N^2+E^2) from ground-based magnetometers in Earth's southern polar cap, we investigate the direct penetration of ULF waves from the solar wind into the polar ionosphere during a gamut of space weather conditions at a distributed network of Automated Geophysical Observatories [AGOs] in Antarctica. To infer causation, a predicted lag correlation maximum at each time step is computed by simply dividing the associated distance of ACE from Earth by the concurrent bulk solar wind speed. This technique helps parse out direct penetration of solar wind ULF waves from other sources (e.g., via leakage from closed field line resonances due to the bulk solar wind plasma viscously interacting at dawn/dusk flanks inducing Kelvin-Helmholtz instabilities [KHI] or compressional modes induced by impulses in solar wind dynamic pressure). The identified direct-penetrating ULF waves are related to the DMSP-derived Poynting fluxes by regression analysis, and conclusions are drawn for the importance of the ULF source for the measured heating.

  8. 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.

  9. Macrophage Capping Protein CapG Is a Putative Oncogene Involved in Migration and Invasiveness in Ovarian Carcinoma

    Directory of Open Access Journals (Sweden)

    J. Glaser

    2014-01-01

    Full Text Available The actin binding protein CapG modulates cell motility by interacting with the cytoskeleton. CapG is associated with tumor progression in different nongynecologic tumor entities and overexpression in breast cancer cell lines correlates with a more invasive phenotype in vitro. Here, we report a significant CapG overexpression in 18/47 (38% of ovarian carcinomas (OC analyzed by qRealTime-PCR analyses. Functional analyses in OC cell lines through siRNA mediated CapG knockdown and CapG overexpression showed CapG-dependent cell migration and invasiveness. A single nucleotide polymorphism rs6886 inside the CapG gene was identified, affecting a CapG phosphorylation site and thus potentially modifying CapG function. The minor allele frequency (MAF of SNP rs6886 (c.1004A/G was higher and the homozygous (A/A, His335 genotype was significantly more prevalent in patients with fallopian tube carcinomas (50% as in controls (10%. With OC being one of the most lethal cancer diseases, the detection of novel biomarkers such as CapG could reveal new diagnostic and therapeutic targets. Moreover, in-depth analyses of SNP rs6886 related to FTC and OC will contribute to a better understanding of carcinogenesis and progression of OC.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. Longitudinal Study on Liver Functions in Patients with Thalassemia Major before and after Deferasirox (DFX) Therapy

    Science.gov (United States)

    Soliman, Ashraf; Yassin, Mohamed; Al Yafei, Fawzia; Al-Naimi, Lolwa; Almarri, Noora; Sabt, Aml; De Sanctis, Vincenzo

    2014-01-01

    By performing regular blood transfusion and iron chelation therapy, most patients with beta thalassemia major (BTM) now survive beyond the third decade of life. Liver disease is becoming an important cause of morbidity and mortality in these patients. Chronic hepatitis and/or severe iron overload are both important causes of liver pathology. Iron chelation with desferrioxamine (DFO) reduces excessive body iron, but its efficacy is limited by poor compliance and dose related toxicity. The recent use of Deferasirox ( DFX ), an oral single dose therapy, has improved the compliance to chelation. Aims To study the long-term liver functions in BMT patients, seronegative for liver infections before versus after DFX treatment in relation to ferritin level. Methods Only BTM patients with hepatitis negative screening (checked every year) and on treatment with DFO for at least five years and with DFX for four years were enrolled. Liver function tests including serum bilirubin, alanine transferase (ALT), aspartate transferase (AST), albumin, insulin-like growth factor – I (IGF-I) and serum ferritin concentrations were followed every six months in 40 patients with BTM. Results DFX treatment (20 mg/kg/day) significantly decreased serum ferritin level in patients with BTM; this was associated with a significant decrease in serum ALT, AST, ALP and increase in IGF-I concentrations. Albumin concentrations did not change after DFX treatment. ALT and AST levels were correlated significantly with serum ferritin concentrations ( r = 0.45 and 0.33 respectively, p < 0.05). IGF-I concentrations were correlated significantly with serum ALT (r= 0.26, p = 0.05) but not with AST, ALP, bilirubin or albumin levels. The negative correlation between serum ferritin concentrations and ALT suggests that the impairment of hepatic function negatively affect IGF-I synthesis in these patients due to iron toxicity, even in the absence of hepatitis. Conclusions Some impairment of liver function can occur

  12. Selection of satellite constellation framework of CAPS

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    Based on the idea of transmitting the satellite navigation and positioning system, taking the distribution and variation of the Position Dilution of Precision factor (PDOP), which is closely related with the precision of navigation and positioning, within the China area as the primary criterion, we analyze and discuss the tentative plan of constellation configuration consisting of geosynchronous orbit (GEO) communication satellites and inclined geosynchronous orbit (IGSO) satellites for the transmitting Chinese Area Positioning System (CAPS). We emphatically consider the effect on the PDOP by the three major orbit parameters including the inclination, eccentricity and right ascension of the ascend- ing node (RAAN) of IGSO satellites, to research the strategies of the constellation configuration of CAPS through software emulation. Various constellation configurations are analyzed and compared and the results show that the constellation configuration, consisting of three IGSO communication satellites in three orbits with the same inclination as 50°, the difference in RAAN as 120° and the same "8" shaped ground track centered near 115°E and four or five GEO communication satellites within 60°E to 150°E, can satisfy the requirement that Chinese domain is availably covered and the navigation and positioning with high precision could be obtained. Three relatively excellent constellation configurations are initially suggested and some concerned issues are discussed in this work.

  13. Magnetically capped rolled-up nanomembranes.

    Science.gov (United States)

    Streubel, Robert; Thurmer, Dominic J; Makarov, Denys; Kronast, Florian; Kosub, Tobias; Kravchuk, Volodymyr; Sheka, Denis D; Gaididei, Yuri; Schäfer, Rudolf; Schmidt, Oliver G

    2012-08-01

    Modifying the curvature in magnetic nanostructures is a novel and elegant way toward tailoring physical phenomena at the nanoscale, allowing one to overcome limitations apparent in planar counterparts. Here, we address curvature-driven changes of static magnetic properties in cylindrically curved magnetic segments with different radii of curvature. The curved architectures are prepared by capping nonmagnetic micrometer- and nanometer-sized rolled-up membranes with a soft-magnetic 20 nm thick permalloy (Ni(80)Fe(20)) film. A quantitative comparison between the magnetization reversal processes in caps with different diameters is given. The phase diagrams of magnetic equilibrium domain patterns (diameter versus length) are generated. For this, joint experimental, including X-ray magnetic circular dichroism photoelectron emission microscopy (XMCD-PEEM), and theoretical studies are carried out. The anisotropic magnetostatic interaction in cylindrically curved architectures originating from the thickness gradient reduces substantially the magnetostatic interaction between closely packed curved nanowires. This feature is beneficial for racetrack memory devices, since a much higher areal density might be achieved than possible with planar counterparts.

  14. Comparison of Polar Cap (PC) index calculations.

    Science.gov (United States)

    Stauning, P.

    2012-04-01

    The Polar Cap (PC) index introduced by Troshichev and Andrezen (1985) is derived from polar magnetic variations and is mainly a measure of the intensity of the transpolar ionospheric currents. These currents relate to the polar cap antisunward ionospheric plasma convection driven by the dawn-dusk electric field, which in turn is generated by the interaction of the solar wind with the Earth's magnetosphere. Coefficients to calculate PCN and PCS index values from polar magnetic variations recorded at Thule and Vostok, respectively, have been derived by several different procedures in the past. The first published set of coefficients for Thule was derived by Vennerstrøm, 1991 and is still in use for calculations of PCN index values by DTU Space. Errors in the program used to calculate index values were corrected in 1999 and again in 2001. In 2005 DMI adopted a unified procedure proposed by Troshichev for calculations of the PCN index. Thus there exists 4 different series of PCN index values. Similarly, at AARI three different sets of coefficients have been used to calculate PCS indices in the past. The presentation discusses the principal differences between the various PC index procedures and provides comparisons between index values derived from the same magnetic data sets using the different procedures. Examples from published papers are examined to illustrate the differences.

  15. PANDA EMC backward end-cap mechanics

    Energy Technology Data Exchange (ETDEWEB)

    Capozza, Luigi; Ceballos, Jorge; Lin, Dexu; Maas, Frank; Rodriguez, David; Valente, Roserio; Welzel, Felix [Helmholtz-Institut Mainz (Germany); Collaboration: PANDA-Collaboration

    2013-07-01

    The PANDA experiment at the FAIR facility will be a multipurpose hermetic spectrometer covering the full solid angle range. A key role for several physics cases will be played by the electromagnetic calorimeter. This includes ca. 15000 PbWO{sub 4} scintillating crystals arranged in a central barrel, a forward and a backward end-cap. The backward end-cap of the PANDA electromagnetic calorimeter is composed by 540 straight crystals covering the scattering angles between 147 {sup circle} and 161 {sup circle}. They are housed in the so-called alveoli which are carbon fibre boxes, providing both strength and low material budget. The crystals are to work at -25 C in order to improve the light yield. To achieve this temperature a cooling system and thermal insulation are needed. The cooling system removes the heat coming from the electronics and through walls, cables and mechanical supports. Vacuum insulated panels are installed as a thermal shielding. Avalanche Photodiodes (APD) have been chosen as photon detectors, since they are still functional under strong magnetic fields. ASIC chips will be used to amplify the APD signal, this preamplifier features low noise and low heat generation. Due to the weight of this detector, it will be supported from the outside of the PANDA target spectrometer in a counter lever arm position.

  16. Arrays of magnetic nanoparticles capped with alkylamines

    Indian Academy of Sciences (India)

    P John Thomas; P Saravanan; G U Kulkarni; C N R Rao

    2002-02-01

    Magnetic metal and metal oxide nanoparticles capped with alkylamines have been synthesized and characterized by transmission electron microscopy, X-ray diffraction, energy dispersive X-ray analysis and magnetization measurements. Core-shell Pd–Ni particles with composition, Pd561Ni3000, (diameter ∼ 3.3 nm) are superparamagnetic at 5 K and organize themselves into two-dimensional crystalline arrays. Similar arrays are obtained with Pd561Ni3000Pd1500 nanoparticles containing an additional Pd shell. Magnetic spinel particles of -Fe2O3, Fe3O4 and CoFe2O4 of average diameters in the 4–6 nm range coated with octylamine are all supermagnetic at room temperature and yield close-packed disordered arrays. Relatively regular arrays are formed by dodecylamine-capped Fe3O4 nanoparticles (∼ 8.6 nm diameter) while well-ordered hexagonal arrays were obtained with octylamine-covered Co3O4 nanoparticles (∼ 4.2 nm diameter).

  17. Karakteristik Penderita Thalassemia di RSU Sari Mutiara Medan Tahun 2012-2014

    OpenAIRE

    Tomita, Jane Ruby

    2015-01-01

    Thalassaemia is a hereditary blood disorder caused by deficiency of the formation of alpha or beta globin chains that make up haemoglobin. According to WHO, there were approximately 5% of the world’s population carry the genetics and 370.000 babies were born with this disorder every year. The prevalence of Thalassaemia carrier in Indonesia 3-8%, the national prevalence of Thalassaemia in Indonesia is 0,1%. In North Sumatera, the prevalence of Alpha Thalassaemia 3,35% and 4,07% Beta Thalassaem...

  18. 基层育龄人群地中海贫血干预模式的探讨%Exploration on thalassemia intervention model for childbearing population in grassroots

    Institute of Scientific and Technical Information of China (English)

    吴志群; 黄劲柏; 苏明珍; 龙碧娟; 巫月红; 叶丽华; 陆翠群

    2015-01-01

    目的:研究基层育龄人群地中海贫血(简称地贫)的干预模式。方法回顾性分析2013年10月至2014年10月英德地区7311对夫妇的调查资料,对地贫筛查结果及干预效果进行分析。结果共检出地贫高风险夫妇104对,检出率为1.42%;α地贫高风险夫妇共检出77对,检出率为1.05%;β地贫高风险夫妇共检出27对,检出率为0.37%;7311对夫妇中,检出HbH胎儿2例(0.03%),检出重型α地贫胎儿9例(0.12%),重型β地贫胎儿3例(0.04%)。干预后育龄人群的地贫知识明显高于干预前(P<0.05)。结论建立完善的地贫筛查技术平台、工作流程、筛查流程及筛查网络,加强对医务人员及相关技术人员的培训,加大宣传力度和筛查力度,完善遗传咨询、跟踪随访制度能够有效的预防中重型地贫患儿的出生。%Objective To study thalassemia intervention model for childbearing population in grassroots.Methods The data of 7 311 couples in Yingde region from Oct 2013 to Oct 2014 were retrospectively analyzed, and the screening results of thalassemia and intervention effects were analyzed.Results 104 couples were detected to have high risk with the positive rate at 1.42 %, and 77 couples were found to have αthalassemia high risk with the positive rate at 1.05 %, a total of 27 couples were found to have βthalassemia high risk with the positive rate at 0.37 %, 2 HbH fetuses (0.03 %) were detected among 311 couples, 9 fetuses (0.12 %) withαthalassemia, 3 fetuses withβthalassemia (0.04 %) were detected.The knowledge of reproductive population on thalassemia after the intervention was obviously higher than that before intervention ( P<0.05 ) .Conclusion The establishment of perfect thalassemia technology platform, work process, screening process and screening network, strengthening of training on medical personnel and related technical personnel, intensification of propaganda and

  19. Acoustic Monitoring of the Arctic Ice Cap

    Science.gov (United States)

    Porter, D. L.; Goemmer, S. A.; Chayes, D. N.

    2012-12-01

    Introduction The monitoring of the Arctic Ice Cap is important economically, tactically, and strategically. In the scenario of ice cap retreat, new paths of commerce open, e.g. waterways from Northern Europe to the Far East. Where ship-going commerce is conducted, the U.S. Navy and U.S. Coast Guard have always stood guard and been prepared to assist from acts of nature and of man. It is imperative that in addition to measuring the ice from satellites, e.g. Icesat, that we have an ability to measure the ice extent, its thickness, and roughness. These parameters play an important part in the modeling of the ice and the processes that control its growth or shrinking and its thickness. The proposed system consists of three subsystems. The first subsystem is an acoustic source, the second is an array of geophones and the third is a system to supply energy and transmit the results back to the analysis laboratory. The subsystems are described below. We conclude with a plan on how to tackle this project and the payoff to the ice cap modeler and hence the users, i.e. commerce and defense. System Two historically tested methods to generate a large amplitude multi-frequency sound source include explosives and air guns. A new method developed and tested by the University of Texas, ARL is a combustive Sound Source [Wilson, et al., 1995]. The combustive sound source is a submerged combustion chamber that is filled with the byproducts of the electrolysis of sea water, i.e. Hydrogen and Oxygen, an explosive mixture which is ignited via a spark. Thus, no additional compressors, gases, or explosives need to be transported to the Arctic to generate an acoustic pulse capable of the sediment and the ice. The second subsystem would be geophones capable of listening in the O(10 Hz) range and transmitting that data back to the laboratory. Thus two single arrays of geophones arranged orthogonal to each other with a range of 1000's of kilometers and a combustive sound source where the two

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

    Science.gov (United States)

    Soliman, Ashraf T.; Al Yafei, Fawzia; Al-Naimi, Lolwa; Almarri, Noora; Sabt, Aml; Yassin, Mohamed; De Sanctis, Vincenzo

    2013-01-01

    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 was