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Sample records for anemia sickle cell

  1. Sickle cell anemia

    Science.gov (United States)

    ... Anemia - sickle cell; Hemoglobin SS disease (Hb SS); Sickle cell disease Images Red blood cells, sickle cell Red blood cells, normal Red blood ... multiple sickle cells Red blood cells, sickle cells Red blood cells, sickle and ... Heeney MM, Ware RE. Sickle cell disease. In: Orkin SH, Fisher DE, Ginsburg D, Look ...

  2. Sickle Cell Anemia

    Science.gov (United States)

    Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells ... red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood ...

  3. Sickle cell anemia.

    OpenAIRE

    ŘÍHOVÁ, Tereza

    2013-01-01

    This thesis is about the disease called sickle cell anemia, or drepanocytosis. In this thesis is described the history of the disease, pathophysiology, laboratory features, various clinical features, diferencial diagnosis, quality of life in sickle cell anemia and therapy.

  4. Sickle Cell Anemia Bibliography.

    Science.gov (United States)

    Christy, Steven C.

    Presents sources for the acquisition of medical, social, psychological, educational, and practical knowledge of sickle cell anemia. The materials listed are designed to help parents, educators, and public service workers. Materials include journal articles, films, brochures, slides, and fact sheets. The usual bibliographic information is given.…

  5. Sickle Cell Anemia (For Teens)

    Science.gov (United States)

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Sickle Cell Disease KidsHealth > For Teens > Sickle Cell Disease Print ... Stay Well? en español Anemia falciforme What Is Sickle Cell Disease? Sickle cell disease is a blood disorder ...

  6. Sexuality and sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Viviane de Almeida Côbo

    2013-01-01

    Full Text Available BACKGROUND: Sickle cell disease, the most common hereditary blood disease in the world, is the result of an atypical hemoglobin called S (Hb S which, when homozygous (Hb SS is the cause of sickle cell anemia. Changes of puberty, correlated with a delayed growth spurt, begin late in both male and female sickle cell anemia individuals with repercussions on sexuality and reproduction. The objectives of this exploratory and descriptive study were to characterize the development of sexuality in adults with sickle cell anemia by investigating the patient's perception of their sex life, as well as the information they had and needed on this subject. METHODS: Twenty male and female sickle cell anemia patients treated at the Hemocentro Regional de Uberaba (UFTM with ages between 19 and 47 years old were enrolled. A socioeconomic questionnaire and a semi-structured interview on sexuality, reproduction and genetic counseling were applied. RESULTS: This study shows that the sickle cell anemia patients lacked information on sexuality especially about the risks of pregnancy and the possible inheritance of the disease by their children. Moreover, the sexual life of the patients was impaired due to pain as well as discrimination and negative feelings experienced in close relationships. CONCLUSION: The health care of sickle cell anemia patients should take into account not only the clinical aspects of the disease, but also psychosocial aspects by providing counseling on sexuality, reproduction and genetics, in order to give this population the possibility of a better quality of life.

  7. Do You Know about Sickle Cell Anemia? (For Kids)

    Science.gov (United States)

    ... X-ray Do You Know About Sickle Cell Anemia? KidsHealth > For Kids > Do You Know About Sickle ... stay in the hospital. What Causes Sickle Cell Anemia? Sickle cell anemia is an inherited (say: in- ...

  8. Do You Know about Sickle Cell Anemia? (For Kids)

    Science.gov (United States)

    ... Operating Room? Do You Know About Sickle Cell Anemia? KidsHealth > For Kids > Do You Know About Sickle ... stay in the hospital. What Causes Sickle Cell Anemia? Sickle cell anemia is an inherited (say: in- ...

  9. Silent Infarcts with Sickle Cell Anemia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-01-01

    Full Text Available The effect of transfusion therapy on the risk for new silent infarct or stroke in children with sickle cell anemia and abnormal transcranial Doppler (TCD ultrasonography was determined at the University of Miami, FL, and other centers in the STOP trial (Stroke Prevention in Sickle Cell Anemia.

  10. The Student with Sickle Cell Anemia.

    Science.gov (United States)

    Tetrault, Sylvia M.

    1981-01-01

    Sickle cell anemia is the most common and severe of inherited chronic blood disorders. In the United States, sickle cell anemia is most common among the Black population. Among the most commonly occurring symptoms are: an enlarged spleen, episodes of severe pain, easily contracted infections, skin ulcers, and frequent urination. (JN)

  11. Salmonella osteomyelitis by sickle cell anemia

    Energy Technology Data Exchange (ETDEWEB)

    Rausch, H.; Tran, V.T.; Boeckmann, U.

    1985-10-01

    Case report of a 28 year old black sickle cell anemia patient with salmonella osteomyelitis of the radius. Aside from sickle cell anemia patients this skeletal complication of enteric salmonellosis is an extreme rarity. Description of the typical roentgenological features includes intracortical fissures and sequestration.

  12. Gene Therapy: a Breakthrough for Sickle Cell Anemia?

    Science.gov (United States)

    ... fullstory_163849.html Gene Therapy: A Breakthrough for Sickle Cell Anemia? But treatment has only been given to ... gene therapy to treat, or even potentially cure, sickle cell anemia. The findings come from just one patient, ...

  13. Stroke Prevention Trials in Sickle Cell Anemia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-06-01

    Full Text Available As part of an International Pediatric Stroke Study launched in 2002, the Stroke Prevention Trial in Sickle Cell Anemia (STOP reports a reduction in the number of overt clinical strokes in children with critically high transcranial Doppler velocities (>200 cm/sec who were regularly transfused.

  14. Assessing Chaos in Sickle Cell Anemia Crises

    Science.gov (United States)

    Harris, Wesley; Le Floch, Francois

    2006-11-01

    Recent developments in sickle cell research and blood flow modeling allow for new interpretations of the sickle cell crises. With an appropriate set of theoretical and empirical equations describing the dynamics of the red cells in their environment, and the response of the capillaries to major changes in the rheology, a complete mathematical system has been derived. This system of equations is believed to be of major importance to provide new and significant insight into the causes of the disease and related crises. With simulations, it has been proven that the system transition from a periodic solution to a chaotic one, which illustrates the onset of crises from a regular blood flow synchronized with the heart beat. Moreover, the analysis of the effects of various physiological parameters exposes the potential to control chaotic solutions, which, in turn, could lead to the creation of new and more effective treatments for sickle cell anemia. .

  15. Microfluidic approach of Sickled Cell Anemia

    Science.gov (United States)

    Abkarian, Manouk; Loiseau, Etienne; Massiera, Gladys

    2012-11-01

    Sickle Cell Anemia is a disorder of the microcirculation caused by a genetic point mutation that produces an altered hemoglobin protein called HbS. HbS self-assembles reversibly into long rope like fibers inside the red blood cells. The resulting distorded sickled red blood cells are believed to block the smallest capillaries of the tissues producing anemia. Despite the large amount of work that provided a thorough understanding of HbS polymerization in bulk as well as in intact red blood cells at rest, no consequent cellular scale approaches of the study of polymerization and its link to the capillary obstruction have been proposed in microflow, although the problem of obstruction is in essence a circulatory problem. Here, we use microfluidic channels, designed to mimic physiological conditions (flow velocity, oxygen concentration, hematocrit...) of the microcirculation to carry out a biomimetic study at the cellular scale of sickled cell vaso-occlusion. We show that flow geometry, oxygen concentration, white blood cells and free hemoglobin S are essential in the formation of original cell aggregates which could play a role in the vaso-occlusion events.

  16. Etiology of Strokes in Children with Sickle Cell Anemia

    Science.gov (United States)

    DeBaun, Michael R.; Derdeyn, Colin P.; McKinstry, Robert C., III

    2006-01-01

    The most devastating complication of sickle cell anemia is cerebral infarction, affecting [approximately]30% of all individuals with sickle cell anemia. Despite being one of the most common causes of stroke in infants and children, the mechanism of cerebral infarction in this population has not been extensively studied and is poorly understood.…

  17. [Genetic aspects of sickle cell anemia].

    Science.gov (United States)

    Labie, D

    1992-10-01

    The genetics of sickle cell anemia may be considered as a model. Its mendelian transmission was hypothesized even before the molecular era. Once the mutation identified, it could be studied at the protein and DNA level; a consistent pathophysiological mechanism was proposed; the various genetic forms of the disease could be identified; the way by which a balanced polymorphism with Plasmodium falciparum malaria is obtained was analyzed. More recently, investigations were run in order to understand how modulating, or epistatic factors could modify the pathophysiological mechanism and contribute to the high clinical diversity of the disease. Several factors have been identified, among which a concomitant alpha-thalassemia, an overproduction of fetal hemoglobin, due either to an activation of the gamma genes or to an increase of the F-cell number, and finally a quantitative control of the beta s chains themselves. Such a high number of genetic active factors questions the concept itself of a monogenic disease.

  18. Myonecrosis in Sickle Cell Anemia: Case Study

    Science.gov (United States)

    Turaga, Lalita Prabha; Boddu, Prajwal; Kipferl, Steve; Basu, Anupam; Yorath, Martin

    2017-01-01

    Patient: Male, 27 Final Diagnosis: Myonecrosis of sickle cell anaemia Symptoms: Pain • redness to feet • swelling foot Medication: — Clinical Procedure: MRI Specialty: Podiatry Objective: Rare disease Background: Myonecrosis is one of the more poorly studied, painful manifestations of sickle cell crisis. Medical literature is sparse detailing the manifestations and management of such symptoms. In myonecrosis, red cells containing sickle hemoglobin become rigid, resulting in reduced blood flow and myonecrosis. Case Report: We present a case study of a patient in sickle cell crisis with an episode of acute pain and swelling to the intrinsic muscles of the foot as a prominent feature of the crises. Although muscle biopsy is considered the gold standard for the diagnosis of myositis or myonecrosis, a low intensity signal on T1 and high intensity signal on T2 at the affected muscle belly can be as conclusive as imaging studies. In an actively sickling patient any invasive intervention should be avoided as it can result in ischemic necrosis of the tissues, due to interruption of capillary flow in end-arteries. Conclusions: Early recognition is critical in sickle cell disease management, allowing for prompt and aggressive fluid resuscitation which remains a cornerstone in the management of most sickle cell vaso-occlusive crises. In this instance, off loading the extremity and early fluid resuscitation resolved the pain and swelling and prevented myonecrosis. PMID:28133359

  19. [Segmental testicular infarction in sickle cell anemia].

    Science.gov (United States)

    Mueller, F E

    2014-05-01

    Vascular occlusions are the clinical indicators of sickle cell disease and in urology they can lead to papillary necrosis, renal infarction or priapism. Segmental testicular infarction in patients with sickle cell disease is a rare event and only a few cases have been reported. We present a 25-year-old man with right testicular pain increasing over 3 days and sickle cell disease. Ultrasound of the right scrotum presented an inhomogeneous, mainly hypoechegenic mass with a hyperechogenic margin and no sign of blood flow. A partial orchiectomy was performed with total enucleation of the lesion, which was histologically diagnosed as benign hemorrhagic necrotic testicular tissue.

  20. Phytomedicines and Nutraceuticals: Alternative Therapeutics for Sickle Cell Anemia

    Directory of Open Access Journals (Sweden)

    Ngozi Awa Imaga

    2013-01-01

    Full Text Available Sickle cell anemia is a genetically inherited disease in which the “SS” individual possesses an abnormal beta globin gene. A single base substitution in the gene encoding the human β-globin subunit results in replacement of β6 glutamic acid by valine, leading to the devastating clinical manifestations of sickle cell disease. This substitution causes drastic reduction in the solubility of sickle cell hemoglobin (HbS when deoxygenated. Under these conditions, the HbS molecules polymerize to form long crystalline intracellular mass of fibers which are responsible for the deformation of the biconcave disc shaped erythrocyte into a sickle shape. First-line clinical management of sickle cell anemia include, use of hydroxyurea, folic acid, amino acids supplementation, penicillinprophylaxis, and antimalarial prophylaxis to manage the condition and blood transfusions to stabilize the patient's hemoglobin level. These are quite expensive and have attendant risk factors. However, a bright ray of hope involving research into antisickling properties of medicinal plants has been rewarding. This alternative therapy using phytomedicines has proven to not only reduce crisis but also reverse sickling (in vitro. The immense benefits of phytomedicines and nutraceuticals used in the management of sickle cell anemia are discussed in this paper.

  1. Sickle Cell Disease

    Science.gov (United States)

    ... sickle cell disease?Sickle cell disease, also called sickle cell anemia, is a hereditary condition (which means it runs ... disease, hemoglobin SS disease, hemoglobin synthesis, hemoglobinopathies, ... cell anemia, sickle cell crisis, vaso-occlusive crisis Family Health, ...

  2. Gambaran Radiografi Rongga Mulut Pada Penderita Sickle Cell Anemia

    OpenAIRE

    Amri

    2008-01-01

    Eritrosit yang tidak normal ( hemoglobin S ) tidak larut pada tegangan oksigen rendah yang akan mengakibatkan eritrosit berbentuk bulan sabit. Eritrosit berbentuk bulan sabit ini mengalami hemolisis sehingga menyebabkan anemia berat yang dikenal sebagia anemia sel sabit atau sickle cell anemia. Gen sel sabit adalah salah satu contoh dari suatu gen yang bertahan dan menyebar di dalam populasi yang berasal dari penduduk kulit hitam Afrika. Keuntungan dari gen ini adalah dapat memberikan res...

  3. Hydroxyurea and sickle cell anemia: effect on quality of life

    OpenAIRE

    Pegelow Charles H; Eckman James R; Swerdlow Paul; Waclawiw Myron A; Barton Franca B; Ballas Samir K; Koshy Mabel; Barton Bruce A; Bonds Duane R

    2006-01-01

    Abstract Background The Multicenter Study of Hydroxyurea (HU) in Sickle Cell Anemia (MSH) previously showed that daily oral HU reduces painful sickle cell (SS) crises by 50% in patients with moderate to severe disease. The morbidity associated with this disease is known to have serious negative impact on the overall quality of life(QOL) of affected individuals. Methods The data in this report were collected from the 299 patients enrolled in the MSH. Health quality of llife (HQOL) measures wer...

  4. Fanconi's Anemia Effect or Sickle Cell Anemia Effect: That is the Question.

    Science.gov (United States)

    Unal, Sule; Chui, David H K; Gumruk, Fatma

    2015-01-01

    A 16-year-old boy who was diagnosed to have sickle cell anemia was referred to our center. The parental consanguinity, growth retardation and dysmorphic features prompted a search for possible Fanconi's Anemia (FA). The diepoxybutane (DEB) test was positive, confirming FA. The interaction of both diseases might account for his relatively mild phenotype in terms of both sickle cell anemia (or Hb S, HBB: c.20A > T) and FA. The high Hb F level that might be related to concomitant FA, may have caused a milder phenotype of sickle cell anemia, whereas nitric oxide (NO) depletion as a consequence of sickle cell anemia, may have caused a delay in the bone marrow failure of FA.

  5. Cerebral vasculopathy in children with sickle cell anemia.

    Science.gov (United States)

    Fasano, Ross M; Meier, Emily R; Hulbert, Monica L

    2015-01-01

    Sickle cell anemia (SCA)-associated cerebral vasculopathy and moyamoya is a unique entity reflecting the abnormal interactions between sickled red blood cells (RBCs) and the cerebral arterial endothelium. Endothelial injury, coagulation activation, and the inflammatory response generated by sickled RBCs are implicated in the development of cerebral vasculopathy, but the pathophysiology remains incompletely understood. SCA-specific screening and treatment guidelines have successfully reduced the incidence of overt strokes in this high-risk population. However, despite aggressive hematological management, many children with cerebral vasculopathy due to SCA have progressive vasculopathy and recurrent strokes; therefore, more effective therapies, such as revascularization surgery and curative hematopoietic stem cell transplant, are urgently needed.

  6. Fetal hemoglobin in sickle cell anemia.

    Science.gov (United States)

    Akinsheye, Idowu; Alsultan, Abdulrahman; Solovieff, Nadia; Ngo, Duyen; Baldwin, Clinton T; Sebastiani, Paola; Chui, David H K; Steinberg, Martin H

    2011-07-07

    Fetal hemoglobin (HbF) is the major genetic modulator of the hematologic and clinical features of sickle cell disease, an effect mediated by its exclusion from the sickle hemoglobin polymer. Fetal hemoglobin genes are genetically regulated, and the level of HbF and its distribution among sickle erythrocytes is highly variable. Some patients with sickle cell disease have exceptionally high levels of HbF that are associated with the Senegal and Saudi-Indian haplotype of the HBB-like gene cluster; some patients with different haplotypes can have similarly high HbF. In these patients, high HbF is associated with generally milder but not asymptomatic disease. Studying these persons might provide additional insights into HbF gene regulation. HbF appears to benefit some complications of disease more than others. This might be related to the premature destruction of erythrocytes that do not contain HbF, even though the total HbF concentration is high. Recent insights into HbF regulation have spurred new efforts to induce high HbF levels in sickle cell disease beyond those achievable with the current limited repertory of HbF inducers.

  7. Inflammatory Bowel Disease in a Child with Sickle Cell Anemia

    Directory of Open Access Journals (Sweden)

    Khaled Alqoaer

    2014-01-01

    Full Text Available Sickle cell anemia (SCA is a chronic haemoglobinopathy that can affect many organs in the body including gastrointestinal tract. However, colonic involvement is very rare and usually in the form of ischemic colitis. We are reporting an 11-year-old Saudi girl with SCA who presented with persistent diarrhea and was found to have inflammaftory bowel disease.

  8. Precursors of executive function in infants with sickle cell anemia.

    Science.gov (United States)

    Hogan, Alexandra M; Telfer, Paul T; Kirkham, Fenella J; de Haan, Michelle

    2013-10-01

    Executive dysfunction occurs in sickle cell anemia, but there are few early data. Infants with sickle cell anemia (n = 14) and controls (n = 14) performed the "A-not-B" and Object Retrieval search tasks, measuring precursors of executive function at 9 and 12 months. Significant group differences were not found. However, for the A-not-B task, 7 of 11 sickle cell anemia infants scored in the lower 2 performance categories at 9 months, but only 1 at 12 months (P = .024); controls obtained scores at 12 months that were statistically comparable to the scores they had already obtained at 9 months. On the Object Retrieval task, 9- and 12-month controls showed comparable scores, whereas infants with sickle cell anemia continued to improve (P = .027); at 9 months, those with lower hemoglobin oxygen saturation passed fewer trials (R s = 0.670, P = .024) and took longer to obtain the toy (R s = -0.664, P = .013). Subtle delays in acquiring developmental skills may underlie abnormal executive function in childhood.

  9. Cardiac abnormalities in children with sickle cell anemia.

    Science.gov (United States)

    Lester, L A; Sodt, P C; Hutcheon, N; Arcilla, R A

    1990-11-01

    The cardiac status of 64 children (ages 0.2 to 18 yr) with sickle cell anemia documented by hemoglobin electrophoresis was evaluated by echocardiography. Left atrial, left ventricular and aortic root dimensions were significantly increased in over 60 percent of these children at all ages compared to values for 99 normal black (non-SCA) control subjects. Left ventricular wall thickness was increased in only 20 percent of older children with sickle cell anemia. Estimated LV mass/m2 and left ventricular cardiac index were increased compared to control subjects (p less than 0.001). Left heart abnormalities expressed as a single composite function, derived from multivariate regression analysis, correlated well with severity of anemia expressed as grams of hemoglobin (r = -0.52, p = less than 0.001) and with percentage of hemoglobin S (r = 0.51, p less than 0.001), but not to the same extent with age. Echocardiographically assessed left ventricular function at rest was comparable to that of control subjects. These data suggest that the major cardiac abnormalities in children are related to the volume overload effects of chronic anemia, and that in this age group, there is no evidence for a distinct "sickle cell cardiomyopathy" or cardiac dysfunction.

  10. Paramagnetic Europium Salen Complex and Sickle-Cell Anemia

    Science.gov (United States)

    Wynter, Clive I.; Ryan, D. H.; May, Leopold; Oliver, F. W.; Brown, Eugene; Hoffman, Eugene J.; Bernstein, David

    2005-04-01

    A new europium salen complex, Eu(salen)2NH4, was synthesized, and its composition was confirmed by chemical analysis and infrared spectroscopy. Further characterization was carried out by 151 Eu Mössbauer spectroscopy and magnetic susceptibility measurements. Mössbauer spectroscopic measurements were made at varying temperatures between 9 K and room temperature and a value of Debye temperature of 133 ±5 K was computed. Both Mössbauer and magnetic susceptibility measurements confirmed the paramagnetic behavior of this complex and the trivalent state of the europium ion. In view of the fact that the "odd" paramagnetic molecule NO has been shown to reverse sickling of red blood cells in sickle cell anemia, the interaction between the paramagnetic europium salen complex and sickle cells was examined after incubation with this europium complex and shown to have similar effects.

  11. Anemia

    Science.gov (United States)

    ... Hemolytic anemia Idiopathic aplastic anemia Megaloblastic anemia Pernicious anemia Sickle cell anemia Thalassemia Causes Although many parts of the ... anemia Immune hemolytic anemia Iron deficiency anemia Pernicious anemia Sickle cell anemia Vitamin B12 deficiency anemia Review Date 2/ ...

  12. Neurological Complications following Blood Transfusions in Sickle Cell Anemia

    Science.gov (United States)

    Khawar, Nayaab; Kulpa, Jolanta; Bellin, Anne; Proteasa, Simona; Sundaram, Revathy

    2017-01-01

    In Sickle Cell Anemia (SCA) patient blood transfusions are an important part of treatment for stroke and its prevention. However, blood transfusions can also lead to complications such as Reversible Posterior Leukoencephalopathy Syndrome (RPLS). This brief report highlights two cases of SCA who developed such neurological complications after a blood transfusion. RLPS should be considered as the cause of neurologic finding in patients with SCA and hypertension following a blood transfusion.

  13. Unexpected Anemia and Reticulocytopenia in an Adolescent With Sickle Cell Anemia Receiving Chronic Transfusion Therapy.

    Science.gov (United States)

    Blauel, Emily R; Grossmann, Lily T; Vissa, Madhav; Miller, Scott T

    2015-10-01

    In a patient with sickle cell disease receiving chronic transfusion, exacerbation of anemia with reticulocytopenia must prompt consideration of a delayed hemolytic transfusion reaction with hyperhemolysis, as further transfusion may worsen this condition; definitive diagnosis is sometimes difficult. Anemia evolving during parvovirus B19-induced erythroid hypoplasia (transient aplastic crisis) should be attenuated in chronic transfusion patients due to superior survival of transfused over endogenous red blood cells. A 16-year-old with sickle cell disease receiving chronic transfusion of modified intensity (goal to maintain hemoglobin Sanemia with reticulocytopenia was later shown to have had transient aplastic crisis.

  14. [Sickle cell anemia causes varied symptoms and high morbidity. Serious prognosis in the most common genetic disease in the world].

    Science.gov (United States)

    Kjellander, Christian; Sennström, Maria K B; Stiller, Viveka; Ågren, Anna

    2015-03-03

    Sickle cell anemia is a life-threatening disease, and the most common genetic disease in the world. The prevalence of sickle cell anemia in Sweden is unknown. Sickle cell anemia is an important disease, because of its variable complications, in many medical and surgical specialties. The overview highlights common medical problems encountered in sickle cell anemia presented through a case report of a pregnant woman.

  15. Fetal hemoglobin in sickle cell anemia: a glass half full?

    Science.gov (United States)

    Steinberg, Martin H; Chui, David H K; Dover, George J; Sebastiani, Paola; Alsultan, Abdulrahman

    2014-01-23

    Fetal hemoglobin (HbF) modulates the phenotype of sickle cell anemia by inhibiting deoxy sickle hemoglobin (HbS) polymerization. The blood concentration of HbF, or the number of cells with detectable HbF (F-cells), does not measure the amount of HbF/F-cell. Even patients with high HbF can have severe disease because HbF is unevenly distributed among F-cells, and some cells might have insufficient concentrations to inhibit HbS polymerization. With mean HbF levels of 5%, 10%, 20%, and 30%, the distribution of HbF/F-cell can greatly vary, even if the mean is constant. For example, with 20% HbF, as few as 1% and as many as 24% of cells can have polymer-inhibiting, or protective, levels of HbF of ∼10 pg; with lower HbF, few or no protected cells can be present. Only when the total HbF concentration is near 30% is it possible for the number of protected cells to approach 70%. Rather than the total number of F-cells or the concentration of HbF in the hemolysate, HbF/F-cell and the proportion of F-cells that have enough HbF to thwart HbS polymerization is the most critical predictor of the likelihood of severe sickle cell disease.

  16. "Untangling Sickle-Cell Anemia and the Teaching of Heterozygote Protection"

    Science.gov (United States)

    Howe, Eric Michael

    2007-01-01

    Introductory biology textbooks often use the example of sickle-cell anemia to illustrate the concept of heterozygote protection. Ordinarily scientists expect the frequency of a gene associated with a debilitating illness would be low owing to its continual elimination by natural selection. The gene that causes sickle-cell anemia, however, has a…

  17. A Group Counseling Approach for Persons Who Work With Sickle Cell Anemia Clients.

    Science.gov (United States)

    Calvin, Richmond

    Although many workshops on sickle cell anemia have been held, it is still difficult to implement a comprehensive training program for sickle cell anemia clients in many communities. Research data on the topic are somewhat nebulous and insufficient political and social pressure have been exerted to change attitudes and take action towards the…

  18. Biomechanics and biorheology of red blood cells in sickle cell anemia

    Science.gov (United States)

    Li, Xuejin; Dao, Ming; Lykotrafitis, George; Karniadakis, George Em

    2017-01-01

    Sickle cell anemia (SCA) is an inherited blood disorder that causes painful crises due to vaso-occlusion of small blood vessels. The primary cause of the clinical phenotype of SCA is the intracellular polymerization of sickle hemoglobin resulting in sickling of red blood cells (RBCs) in deoxygenated conditions. In this review, we discuss the biomechanical and biorheological characteristics of sickle RBCs and sickle blood as well as their implications toward a better understanding of the pathophysiology and pathogenesis of SCA. Additionally, we highlight the adhesive heterogeneity of RBCs in SCA and their specific contribution to vaso-occlusive crisis. PMID:27876368

  19. Biomechanics and biorheology of red blood cells in sickle cell anemia.

    Science.gov (United States)

    Li, Xuejin; Dao, Ming; Lykotrafitis, George; Karniadakis, George Em

    2017-01-04

    Sickle cell anemia (SCA) is an inherited blood disorder that causes painful crises due to vaso-occlusion of small blood vessels. The primary cause of the clinical phenotype of SCA is the intracellular polymerization of sickle hemoglobin resulting in sickling of red blood cells (RBCs) in deoxygenated conditions. In this review, we discuss the biomechanical and biorheological characteristics of sickle RBCs and sickle blood as well as their implications toward a better understanding of the pathophysiology and pathogenesis of SCA. Additionally, we highlight the adhesive heterogeneity of RBCs in SCA and their specific contribution to vaso-occlusive crisis.

  20. Maxillary sinus marrow hyperplasia in sickle cell anemia

    Energy Technology Data Exchange (ETDEWEB)

    Fernandez, M. [Dept. of Imaging, Children`s Hospital of Michigan, Detroit, MI (United States); Slovis, T.L. [Dept. of Imaging, Children`s Hospital of Michigan, Detroit, MI (United States); Whitten-Shurney, W. [Dept. of Pediatrics, Children`s Hospital of Michigan, Detroit, MI (United States)

    1995-11-01

    Marrow hyperplasia is a sequela of sickle cell anemia (SCA) and may be seen in the skull in children after 5 years of age. The facial bones, except for the mandible and orbits, are usually not involved. We report an unusual case of a 28-month-old black boy with SCA who presented with extensive marrow hyperplasia of the maxillary sinuses in addition to severe calvarial and mandibular changes. The imaging characteristics on CT (similar to other sites of marrow hyperplasia) and MR (low signal on both T{sub 1} and T{sub 2} sequences) should aid in making the correct diagnosis. (orig.)

  1. Traditional Herbal Management of Sickle Cell Anemia: Lessons from Nigeria

    OpenAIRE

    Sunday J. Ameh; Florence D. Tarfa; Benjamin U. Ebeshi

    2012-01-01

    Background. Patients in West Africa where sickle cell anemia (SCA) is endemic have for ages been treated with natural products, especially herbs, as, is still the case in rural communities. Objective. In this paper we look closely at some of these herbs to see if there are any lessons to be learnt or clues to be found for optimizing the treatments based on them, as had been done in the case of NIPRISAN, which was developed from herbs in Nigeria based on Yoruba Medicine. Methods. Select public...

  2. Mechanism of vaso-occlusion in sickle cell anemia

    Science.gov (United States)

    Lei, Huan; Karniadakis, George

    2012-11-01

    Vaso-occlusion crisis is one of the key hallmark of sickle cell anemia. While early studies suggested that the crisis is caused by blockage of a single elongated cell, recent experimental investigations indicate that vaso-occlusion is a complex process triggered by adhesive interactions among different cell groups in multiple stages. Based on dissipative particle dynamics, a multi-scale model for the sickle red blood cells (SS-RBCs), accounting for diversity in both shapes and cell rigidities, is developed to investigate the mechanism of vaso-occlusion crisis. Using this model, the adhesive dynamics of single SS-RBC was investigated in arterioles. Simulation results indicate that the different cell groups (deformable SS2 RBCs, rigid SS4 RBCs, leukocytes, etc.) exhibit heterogeneous adhesive behavior due to the different cell morphologies and membrane rigidities. We further simulate the tube flow of SS-RBC suspensions with different cell fractions. The more adhesive SS2 cells interact with the vascular endothelium and further trap rigid SS4 cells, resulting in vaso-occlusion in vessels less than 15 μm . Under inflammation, adherent leukocytes may also trap SS4 cells, resulting in vaso-occlusion in even larger vessels. This work was supported by the NSF grant CBET-0852948 and the NIH grant R01HL094270.

  3. Perinatal outcome in sickle cell anemia: a prospective study from India.

    Science.gov (United States)

    Daigavane, Mayoor M; Jena, Rabindra K; Kar, Tushar J

    2013-01-01

    Sickle cell anemia, the homozygous genotype of sickle cell disease is one of the most common heritable diseases in the world. The Arab-Asian haplotype present in India is one of the least severe of all haplotypes. Many sickle cell anemia patients are now leading a symptom-free productive life due to hydroxyurea (HU) and better supportive care. Although pregnancy in sickle cell anemia patients is considered a high-risk category, it perinatal outcome is least studied, particularly among carriers of the Arab-Asian haplotype. Thus, the present prospective, randomized study was performed to assess the perinatal outcome in sickle cell anemia. Neonatal outcome such as low birth weight, perinatal mortality rate, special care newborn unit (SCNU) admission, intrauterine growth retardation (IUGR) and pre term births were significantly higher in sickle cell anemia mothers. Maternal outcome such as severe anemia, preeclampsia, vasoocclusive crisis (VOC), pulmonary complications, jaundice and blood transfusion requirements were significantly higher in sickle cell anemia mothers, which were successfully managed. Cesarian section rate was not significantly different from normal controls. Successful pregnancies were achieved in 84.44% of cases. However, we strongly recommend that pregnancies in these patients should be managed in an institutional setup.

  4. Sickle Cell Information Center

    Science.gov (United States)

    ... Nature, Wash Post, SciAm, CNN - Google Custom Search Sickle Cell Anemia News -- ScienceDaily January 18, 1970 Read articles summarizing medical research on sickle-cell anemia. NYT, Nature, Wash Post, SciAm, CNN - Google Custom ...

  5. Children with Sickle-Cell Anemia: Parental Relations, Parent-Child Relations, and Child Behavior.

    Science.gov (United States)

    Evans, Robert C.; And Others

    1988-01-01

    Investigated the influence of a child with sickle-cell anemia on parental affiliation, parent-child relationships, and parents' perception of their child's behavior. In the sickle-cell group, parents' interpersonal relationship suffered; parent-child relationship and child behavior correlated significantly; and single-parent families estimated…

  6. Traditional Herbal Management of Sickle Cell Anemia: Lessons from Nigeria

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    Sunday J. Ameh

    2012-01-01

    Full Text Available Background. Patients in West Africa where sickle cell anemia (SCA is endemic have for ages been treated with natural products, especially herbs, as, is still the case in rural communities. Objective. In this paper we look closely at some of these herbs to see if there are any lessons to be learnt or clues to be found for optimizing the treatments based on them, as had been done in the case of NIPRISAN, which was developed from herbs in Nigeria based on Yoruba Medicine. Methods. Select publications on SCA, its molecular biology and pathology, and actual and experimental cases of herbal treatment were perused in search of molecular clues that can be linked to chemical constituents of the herbs involved. Results. The study revealed that during the last 2-3 decades, much progress was made in several aspects of SCA pharmacology, especially the approval of hydroxyurea. As for SCA herbalism, this paper revealed that antisickling herbs abound in West Africa and that the most promising may yet be found. Three new antisickling herbs (Entandrophragma utile, Chenopodium ambrosioides, and Petiveria alliacea were reported in May 2011. At NIPRD, where NIPRISAN was developed, three other recipes are currently awaiting development. Conclusion. The study raised the hope that the search in the Tropics for more effective herbal recipes for managing sickle cell anaemia will be more fruitful with time and effort.

  7. Traditional herbal management of sickle cell anemia: lessons from Nigeria.

    Science.gov (United States)

    Ameh, Sunday J; Tarfa, Florence D; Ebeshi, Benjamin U

    2012-01-01

    Background. Patients in West Africa where sickle cell anemia (SCA) is endemic have for ages been treated with natural products, especially herbs, as, is still the case in rural communities. Objective. In this paper we look closely at some of these herbs to see if there are any lessons to be learnt or clues to be found for optimizing the treatments based on them, as had been done in the case of NIPRISAN, which was developed from herbs in Nigeria based on Yoruba Medicine. Methods. Select publications on SCA, its molecular biology and pathology, and actual and experimental cases of herbal treatment were perused in search of molecular clues that can be linked to chemical constituents of the herbs involved. Results. The study revealed that during the last 2-3 decades, much progress was made in several aspects of SCA pharmacology, especially the approval of hydroxyurea. As for SCA herbalism, this paper revealed that antisickling herbs abound in West Africa and that the most promising may yet be found. Three new antisickling herbs (Entandrophragma utile, Chenopodium ambrosioides, and Petiveria alliacea) were reported in May 2011. At NIPRD, where NIPRISAN was developed, three other recipes are currently awaiting development. Conclusion. The study raised the hope that the search in the Tropics for more effective herbal recipes for managing sickle cell anaemia will be more fruitful with time and effort.

  8. A Demonstration of the Molecular Basis of Sickle-Cell Anemia.

    Science.gov (United States)

    Fox, Marty; Gaynor, John J.

    1996-01-01

    Describes a demonstration that permits the separation of different hemoglobin molecules within two to three hours. Introduces students to the powerful technique of gel electrophoresis and illustrates the molecular basis of sickle-cell anemia. (JRH)

  9. Cornual pregnancy in a patient suffering from sickle cell anemia

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    Onilda Labrada Silva

    2015-10-01

    Full Text Available Nowadays, ectopic pregnancy is a pathological entity of great incidence, which is increased, among other things, by each time earlier sexual relations. Cornual pregnancy is as a result of the implantation of the blastocyte within the segment of the fallopian tube that goes into the uterus wall or between the tubal ostium and the proximal portion of the isthmus. This is a case of a cornual pregnancy in which the use of ultrasonography played an essential role for its diagnosis, since it is about a patient suffering from sickle cell anemia, where it was not possible to clinically eliminate the possibility of an occlusive vessel crisis as the cause of abdominal pain. Subtotal hysterectomy of the right tube was performed. The patient’s evolution is satisfactory.

  10. Functional and anatomical evidence of cerebral tissue hypoxia in young sickle cell anemia mice.

    Science.gov (United States)

    Cahill, Lindsay S; Gazdzinski, Lisa M; Tsui, Albert Ky; Zhou, Yu-Qing; Portnoy, Sharon; Liu, Elaine; Mazer, C David; Hare, Gregory Mt; Kassner, Andrea; Sled, John G

    2017-03-01

    Cerebral ischemia is a significant source of morbidity in children with sickle cell anemia; however, the mechanism of injury is poorly understood. Increased cerebral blood flow and low hemoglobin levels in children with sickle cell anemia are associated with increased stroke risk, suggesting that anemia-induced tissue hypoxia may be an important factor contributing to subsequent morbidity. To better understand the pathophysiology of brain injury, brain physiology and morphology were characterized in a transgenic mouse model, the Townes sickle cell model. Relative to age-matched controls, sickle cell anemia mice demonstrated: (1) decreased brain tissue pO2 and increased expression of hypoxia signaling protein in the perivascular regions of the cerebral cortex; (2) elevated basal cerebral blood flow , consistent with adaptation to anemia-induced tissue hypoxia; (3) significant reduction in cerebrovascular blood flow reactivity to a hypercapnic challenge; (4) increased diameter of the carotid artery; and (5) significant volume changes in white and gray matter regions in the brain, as assessed by ex vivo magnetic resonance imaging. Collectively, these findings support the hypothesis that brain tissue hypoxia contributes to adaptive physiological and anatomic changes in Townes sickle cell mice. These findings may help define the pathophysiology for stroke in children with sickle cell anemia.

  11. Haptoglobin gene polymorphisms and interleukin-6 and -8 levels in patients with sickle cell anemia

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    Bruna Spinella Pierrot-Gallo

    2015-10-01

    Full Text Available BACKGROUND: Haptoglobin genotypes, and interleukin-6 and -8 participate in the pathophysiology of sickle cell anemia. The expression of cytokines is regulated by genetic mechanisms however the effect of haptoglobin polymorphisms on these cytokines is not fully understood. This study aimed to compare the frequency of haptoglobin genotypes and the interleukin-6 and -8 concentrations in sickle cell anemia patients and controls to investigate the association between haptoglobin genotypes and cytokine levels.METHODS: Sixty sickle cell anemia patients and 74 healthy individuals were analyzed. Haptoglobin genotypes were determined by multiplex polymerase chain reaction, and the interleukin-6 and -8 levels by enzyme linked immunosorbent assay. The association between haptoglobin genotypes and cytokines was investigated by statistical tests.RESULTS:Hp2-1 was the most common genotype in both the cases and controls while Hp1-1 was less frequent among sickle cell anemia patients. Interleukin-6 and -8 levels were higher in patients than controls (p-value 0.05. A similar trend was observed among the controls.CONCLUSION: Although, levels of interleukin-6 and -8 were higher in the sickle cell anemia patients, they appeared not to be related to the haptoglobin genotypes. Further investigations are necessary to identify factors responsible for increased secretion of the interleukin-6 and -8 pro-inflammatory cytokines in patients with sickle cell anemia.

  12. Haptoglobin gene polymorphisms and interleukin-6 and -8 levels in patients with sickle cell anemia

    Science.gov (United States)

    Pierrot-Gallo, Bruna Spinella; Vicari, Perla; Matsuda, Sandra Satiko; Adegoke, Samuel Ademola; Mecabo, Grazielle; Figueiredo, Maria Stella

    2015-01-01

    Background Haptoglobin genotypes, and interleukin-6 and -8 participate in the pathophysiology of sickle cell anemia. The expression of cytokines is regulated by genetic mechanisms however the effect of haptoglobin polymorphisms on these cytokines is not fully understood. This study aimed to compare the frequency of haptoglobin genotypes and the interleukin-6 and -8 concentrations in sickle cell anemia patients and controls to investigate the association between haptoglobin genotypes and cytokine levels. Methods Sixty sickle cell anemia patients and 74 healthy individuals were analyzed. Haptoglobin genotypes were determined by multiplex polymerase chain reaction, and the interleukin-6 and -8 levels by enzyme linked immunosorbent assay. The association between haptoglobin genotypes and cytokines was investigated by statistical tests. Results Hp2-1 was the most common genotype in both the cases and controls while Hp1-1 was less frequent among sickle cell anemia patients. Interleukin-6 and -8 levels were higher in patients than controls (p-value 0.05). A similar trend was observed among the controls. Conclusion Although, levels of interleukin-6 and -8 were higher in the sickle cell anemia patients, they appeared not to be related to the haptoglobin genotypes. Further investigations are necessary to identify factors responsible for increased secretion of the interleukin-6 and -8 pro-inflammatory cytokines in patients with sickle cell anemia. PMID:26408368

  13. Sickle Cell Anemia, the First Molecular Disease: Overview of Molecular Etiology, Pathophysiology, and Therapeutic Approaches

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    Martin H. Steinberg

    2008-01-01

    Full Text Available The root cause of sickle cell disease is a single β-globin gene mutation coding for the sickle β-hemoglobin chain. Sickle hemoglobin tetramers polymerize when deoxygenated, damaging the sickle erythrocyte. A multifaceted pathophysiology, triggered by erythrocyte injury induced by the sickle hemoglobin polymer, and encompassing more general cellular and tissue damage caused by hypoxia, oxidant damage, inflammation, abnormal intracellular interactions, and reduced nitric oxide bioavailability, sets off the events recognized clinically as sickle cell disease. This disease is a group of related disorders where sickle hemoglobin is the principal hemoglobin species. All have varying degrees of chronic hemolytic anemia, vasculopathy, vasoocclusive disease, acute and chronic organ damage, and shortened life span. Its complex pathophysiology, of which we have a reasonable understanding, provides multiple loci for potential therapeutic intervention.

  14. Hemoglobin Aggregation in Single Red Blood Cells of Sickle Cell Anemia

    Science.gov (United States)

    Nishio, Izumi; Tanaka, Toyoichi; Sun, Shao-Tang; Imanishi, Yuri; Tsuyoshi Ohnishi, S.

    1983-06-01

    A laser light scattering technique was used to observe the extent of hemoglobin aggregation in solitary red blood cells of sickle cell anemia. Hemoglobin aggregation was confirmed in deoxygenated cells. The light scattering technique can also be applied to cytoplasmic studies of any biological cell.

  15. Primary stroke in a woman with sickle cell anemia responsive to hydroxyurea therapy.

    Science.gov (United States)

    Ballas, Samir K; Martinez, Ubaldo; Savage, Michael

    2014-01-01

    The most common cause of stroke in children with sickle cell anemia is infarction due to ischemia. In adults, however, stroke is most commonly hemorrhagic in nature. Other causes of stroke in patients with sickle cell disease are very rare. In this short communication, we describe a woman with sickle cell anemia responsive to hydroxyurea (HU) therapy who had primary stroke due to paradoxical embolization caused by a large atrial septal defect. Successful management of the stroke included surgical closure of the defect with trans-esophageal echocardiographic guidance. To the best of our knowledge, this is the first patient with sickle cell anemia and stroke due to congenital heart disease who did not require open heart surgery for successful management.

  16. Hydroxyurea and sickle cell anemia: effect on quality of life

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    Pegelow Charles H

    2006-08-01

    Full Text Available Abstract Background The Multicenter Study of Hydroxyurea (HU in Sickle Cell Anemia (MSH previously showed that daily oral HU reduces painful sickle cell (SS crises by 50% in patients with moderate to severe disease. The morbidity associated with this disease is known to have serious negative impact on the overall quality of life(QOL of affected individuals. Methods The data in this report were collected from the 299 patients enrolled in the MSH. Health quality of llife (HQOL measures were assessed in the MSH as a secondary endpoint to determine if the clinical benefit of HU could translate into a measurable benefit perceptible to the patients. HQOL was assessed with the Profile of Mood States, the Health Status Short Form 36 (SF-36, including 4-week pain recall, and the Ladder of Life, self-administered twice 2-weeks apart pre-treatment and every 6 months during the two-year, randomized, double-blind, treatment phase. The effects of factors including randomized treatment, age, gender, pre-treatment crises frequency, Hb-F level mean, daily pain from 4-week pre-treatment diaries, and 2-year Hb-F response level (low or high were investigated. Results Over two years of treatment, the benefit of HU treatment on QOL, other than pain scales, was limited to those patients taking HU who maintained a high HbF response, compared to those with low HbF response or on placebo. These restricted benefits occurred in social function, pain recall and general health perception. Stratification according to average daily pain prior to treatment showed that responders to HU whose average daily pain score was 5–9 (substantial pain achieved significant reduction in the tension scale compared to the placebo group and to non-responders. HU had no apparent effect on other QOL measures. Conclusion Treatment of SS with HU improves some aspects of QOL in adult patients who already suffer from moderate-to-severe SS.

  17. Hydroxyurea and sickle cell anemia: effect on quality of life

    Science.gov (United States)

    Ballas, Samir K; Barton, Franca B; Waclawiw, Myron A; Swerdlow, Paul; Eckman, James R; Pegelow, Charles H; Koshy, Mabel; Barton, Bruce A; Bonds, Duane R

    2006-01-01

    Background The Multicenter Study of Hydroxyurea (HU) in Sickle Cell Anemia (MSH) previously showed that daily oral HU reduces painful sickle cell (SS) crises by 50% in patients with moderate to severe disease. The morbidity associated with this disease is known to have serious negative impact on the overall quality of life(QOL) of affected individuals. Methods The data in this report were collected from the 299 patients enrolled in the MSH. Health quality of llife (HQOL) measures were assessed in the MSH as a secondary endpoint to determine if the clinical benefit of HU could translate into a measurable benefit perceptible to the patients. HQOL was assessed with the Profile of Mood States, the Health Status Short Form 36 (SF-36), including 4-week pain recall, and the Ladder of Life, self-administered twice 2-weeks apart pre-treatment and every 6 months during the two-year, randomized, double-blind, treatment phase. The effects of factors including randomized treatment, age, gender, pre-treatment crises frequency, Hb-F level mean, daily pain from 4-week pre-treatment diaries, and 2-year Hb-F response level (low or high) were investigated. Results Over two years of treatment, the benefit of HU treatment on QOL, other than pain scales, was limited to those patients taking HU who maintained a high HbF response, compared to those with low HbF response or on placebo. These restricted benefits occurred in social function, pain recall and general health perception. Stratification according to average daily pain prior to treatment showed that responders to HU whose average daily pain score was 5–9 (substantial pain) achieved significant reduction in the tension scale compared to the placebo group and to non-responders. HU had no apparent effect on other QOL measures. Conclusion Treatment of SS with HU improves some aspects of QOL in adult patients who already suffer from moderate-to-severe SS. PMID:16942629

  18. Benign ocular manifestations of sickle cell Anemia in Arabs

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    Al-salem Mahmoud

    1991-01-01

    Full Text Available A complete ophthalmic examination was carried out for each of 54 adult patients with various forms of sickle cell disease. Mild and infrequent signs in the anterior and posterior segments were found, but there were no cases of proliferative sickle cell retinopathy detected. These findings were compared with the reported findings in the black Americans of African origin with the same disease. The probable explanations were the high prevalence of fetal haemoglobin in Arab sicklers, the rarity of sickle cell disease among the Arabs and the possible existence of a different gene.

  19. Sickle cell anemia in Brazil: personal, medical and endodontic patterns

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    Shirlene Barbosa Pimentel FERREIRA

    2016-01-01

    Full Text Available Abstract Sickle cell anemia (SCA is the most prevalent genetic disease worldwide. Recurrent vaso-occlusive infarcts predispose SCA patients to infections, which are the primary causes of morbidly and mortality. This study aimed to evaluate the relationship between SCA and endodontic diseases. Personal information, medical data (hematological indices, virologic testing, blood transfusions, medications received, splenectomy and information on the need for endodontic treatment were obtained from SCA patients who were registered and followed up by the Fundação Hemominas, Minas Gerais, Brazil.These data were compared with the need for root canal treatment in SCA patients. One hundred eight patients comprised the studied population, and the rate of the need for endodontic therapy was 10.2%. Among the medical data, a significant difference was observed for eosinophil (p = 0.045 counts and atypical lymphocyte counts (p = 0.036 when the groups (with and without the need for endodontic treatment were compared. Statistical relevance was observed when comparing the patients with and without the need for root canal therapy concerned eosinophil counts and atypical lymphocyte counts. The differences in statistical medical data, observed between the groups suggest that both parameters are naturally connected to the stimulation of the immune system that can occur in the presence of root canal infections and that can be harmful to SCA individuals.

  20. Genetic predictors for stroke in children with sickle cell anemia.

    Science.gov (United States)

    Flanagan, Jonathan M; Frohlich, Denise M; Howard, Thad A; Schultz, William H; Driscoll, Catherine; Nagasubramanian, Ramamoorthy; Mortier, Nicole A; Kimble, Amy C; Aygun, Banu; Adams, Robert J; Helms, Ronald W; Ware, Russell E

    2011-06-16

    Stroke is a devastating complication of sickle cell anemia (SCA), affecting 5% to 10% of patients before adulthood. Several candidate genetic polymorphisms have been proposed to affect stroke risk, but few have been validated, mainly because previous studies were hampered by relatively small sample sizes and the absence of additional patient cohorts for validation testing. To verify the accuracy of proposed genetic modifiers influencing stroke risk in SCA, we performed genotyping for 38 published single nucleotide polymorphisms (SNPs), as well as α-thalassemia, G6PD A(-) variant deficiency, and β-globin haplotype in 2 cohorts of children with well-defined stroke phenotypes (130 stroke, 103 nonstroke). Five polymorphisms had significant influence (P < .05): SNPs in the ANXA2, TGFBR3, and TEK genes were associated with increased stroke risk, whereas α-thalassemia and a SNP in the ADCY9 gene were linked with decreased stroke risk. Further investigation at these genetic regions may help define mutations that confer stroke risk or protection in children with SCA.

  1. Safety of short-term valacyclovir as an anti-sickling agent in sickle-cell anemia.

    Science.gov (United States)

    Ender, Katherine L; DeBellis, Robert H; Erlanger, Bernard F; Billote, Genia B; Brittenham, Gary M

    2011-05-01

    To assess safety and tolerability, we administered valacyclovir, an oral anti-viral medication that inhibits erythrocyte sickling in vitro, to 14 subjects with sickle-cell anemia for 1 week at a standard dose of 1,000 mg every 8 hr. No clinically significant adverse effects occurred. In 11 subjects in steady state, the mean hemoglobin concentration was almost constant while the absolute reticulocyte count decreased in eight (P = 0.1) and the overall mean fell slightly although not significantly (10%, P = 0.2). These results suggest that valacyclovir is safe and well tolerated in patients with sickle-cell anemia and that a longer duration of therapy merits investigation.

  2. Hipertensão arterial pulmonar associada à anemia falciforme Sickle cell anemia-associated pulmonary arterial hypertension

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    Roberto Ferreira Pinto Machado

    2007-10-01

    Full Text Available A hipertensão pulmonar é uma complicação comum em pacientes com anemia falciforme. A despeito das elevações leves das pressões pulmonares desses pacientes, a morbimortalidade é alta e, em pacientes adultos com anemia falciforme, a hipertensão pulmonar é um fator de risco muito importante. A patogênese da hipertensão pulmonar relacionada à anemia falciforme é multifatorial e inclui hemólise, baixos níveis de óxido nítrico, hipóxia crônica, tromboembolismo, doença hepática crônica e asplenia. Na maioria dos pacientes, a hipertensão arterial pulmonar é a causa principal para as elevações na pressão arterial pulmonar, mas a hipertensão pulmonar venosa também é um fator contribuinte em alguns pacientes. Existem poucos estudos específicos avaliando os efeitos de tratamento para a hipertensão pulmonar em pacientes com anemia falciforme. É provável que a intensificação da terapia para a anemia hemolítica em todos os pacientes e o tratamento específico para a hipertensão pulmonar em pacientes com doença severa sejam benéficos. Estudos de grande porte avaliando o efeito do tratamento da hipertensão pulmonar em pacientes com anemia falciforme estão em andamento.Pulmonary hypertension is a common complication of sickle cell anemia. Despite the fact that the elevations in pulmonary artery pressures are slight, morbidity and mortality are high. In adult sickle cell anemia patients, pulmonary hypertension is emerging as a major risk factor for death. The pathogenesis of sickle cell anemia-related pulmonary hypertension is multifactorial, including hemolysis, impaired nitric oxide bioavailability, chronic hypoxemia, thromboembolism, chronic liver disease and asplenia. In the majority of patients, pulmonary arterial hypertension is the main cause of elevated pulmonary artery pressures. However, pulmonary venous hypertension also plays a role in a subgroup of patients. Specific data on the effects of treatment

  3. Relative deformability of red blood cells in sickle cell trait and sickle cell anemia by trapping and dragging

    Science.gov (United States)

    Solomon, Rance; Cooper, James; Welker, Gabriel; Aguilar, Elaura; Flanagan, Brooke; Pennycuff, Chelsey; Scott, David; Farone, Anthony; Farone, Mary; Erenso, Daniel; Mushi, Robert; del Pilar Aguinaga, Maria

    2013-06-01

    Genetic mutation of the β-globin gene or inheritance of this mutated gene changes the chemical composition of the oxygen-carrying hemoglobin molecule that could lead to either the heterozygote genotype, resulting in sickle cell trait (SCT), or the homozygote genotype, resulting in sickle cell anemia (SCA). These mutations could affect the reversible elastic deformations of the red blood cells (RBCs) which are vital for biological functions. We have investigated this effect by studying the differences in the deformability of RBCs from blood samples of an individual with SCT and an untreated patient with SCA along with hemoglobin quantitation of each blood sample. Infrared 1064 nm laser trap force along with drag shear force are used to induce deformation in the RBCs. Ultra2-High Performance Liquid Chromatography (UHPLC) is used for the hemoglobin quantitation.

  4. Priapism in Sickle Cell Anemia: Emerging Mechanistic Understanding and Better Preventative Strategies

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    Genevieve M. Crane

    2011-01-01

    Full Text Available Sickle cell anemia is a common and disabling disorder profoundly affecting mortality as well as quality of life. Up to 35% of men with sickle cell disease are affected by painful, prolonged erections termed ischemic priapism. A priapic episode may result in fibrosis and permanent erectile dysfunction. The severity of sickle cell disease manifestations is variable dependent on a number of contributing genetic factors; however, priapism tends to cluster with other severe vascular complications including pulmonary hypertension, leg ulceration, and overall risk of death. The mechanisms underlying priapism in sickle cell disease have begun to be elucidated including hemolysis-mediated dysregulation of the nitric oxide signaling pathway and dysregulation of adenosine-mediated vasodilation. A better understanding of these mechanisms is leading toward novel preventative strategies. This paper will focus on the mechanisms underlying development of ischemic priapism in sickle cell disease, current acute and preventative treatment strategies, and future directions for improved management of this disorder.

  5. Hashimoto's thyroiditis and acute chest syndrome revealing sickle cell anemia in a 32 years female patient.

    Science.gov (United States)

    Igala, Marielle; Nsame, Daniela; Ova, Jennie Dorothée Guelongo Okouango; Cherkaoui, Siham; Oukkach, Bouchra; Quessar, Asmae

    2015-01-01

    Sickle cell anemia results from a single amino acid substitution in the gene encoding the β-globin subunit. Polymerization of deoxygenated sickle hemoglobin leads to decreased deformability of red blood cells. Hashimoto's thyroiditis is a common thyroid disease now recognized as an auto-immune thyroid disorder, it is usually thought to be haemolytic autoimmune anemia. We report the case of a 32 years old women admitted for chest pain and haemolysis anemia in which Hashimoto's thyroiditis and sickle cell anemia were found. In our observation the patient is a young woman whose examination did not show signs of goitre but the analysis of thyroid function tests performed before an auto-immune hemolytic anemia (confirmed by a high level of unconjugated bilirubin and a Coombs test positive for IgG) has found thyroid stimulating hormone (TSH) and positive thyroid antibody at rates in excess of 4.5 times their normal value. In the same period, as the hemolytic anemia, and before the atypical chest pain and anguish they generated in the patient, the search for hemoglobinopathies was made despite the absence of a family history of haematological disease or painful attacks in childhood. Patient electrophoresis's led to research similar cases in the family. The mother was the first to be analyzed with ultimately diagnosed with sickle cell trait have previously been ignored. This case would be a form with few symptoms because the patient does not describe painful crises in childhood or adolescence.

  6. Safety of Pegfilgrastim (Neulasta in Patients with Sickle Cell Trait/Anemia

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    Pashtoon Murtaza Kasi

    2013-01-01

    Full Text Available Pegfilgrastim (Neulasta is a recombinant filgrastim (human granulocyte colony-stimulating factor (G-CSF attached to a polyethylene glycol (PEG molecule and is given as part of chemotherapy regimens that are associated with significant myelosuppression and risk for febrile neutropenia. Prescribing information available on manufacturer’s website for the drug warns us about possible severe sickle cell crises related to the medication but does not report the actual incidence or the use in patients with sickle cell trait. Caution is advised when using it in patients with sickle cell disease. Here we present a case of a Caucasian female with known sickle cell trait (SCT with no prior complications who developed a presumed sickle cell crisis after getting Neulasta, as a part of the chemotherapy regimen used to treat her breast cancer. Based on our literature review, this appears to be the first case report of a patient with SCT developing a sickle cell crisis with the pegylated form of recombinant filgrastim. Given the dearth of literature regarding the use of G-CSF and its related pegylated forms in patients with sickle cell anemia and sickle cell trait, a discussion of potential mechanisms and review of current literature and guidelines is also presented.

  7. Fetal Hemoglobin in Sickle Cell Anemia: Genetic Studies of the Arab-Indian Haplotype

    OpenAIRE

    Ngo, Duyen; Bae, Harold; Steinberg, Martin H.; Sebastiani, Paola; Solovieff, Nadia; Baldwin, Clinton T.; Melista, Efthymia; Safaya, Surinder; Farrar, Lindsay A.; Suliman, Ahmed M.; Albuali, Waleed H; Al Bagshi, Muneer H.; Akinsheye, Idowu; Gallagher, Patrick; Luo, Hong-yuan

    2013-01-01

    Sickle cell anemia is common in the Middle East and India where the HbS gene is sometimes associated with the Arab-Indian (AI) β-globin gene (HBB) cluster haplotype. In this haplotype of sickle cell anemia, fetal hemoglobin (HbF) levels are 3-4 fold higher than those found in patients with HbS haplotypes of African origin. Little is known about the genetic elements that modulate HbF in AI haplotype patients. We therefor studied Saudi HbS homozygotes with the AI haplotype (mean HbF 19.2±7.0%, ...

  8. Haplotype Map of Sickle Cell Anemia in Tunisia

    OpenAIRE

    Imen Moumni; Maha Ben Mustapha; Sarra Sassi; Amine Zorai; Ikbel Ben Mansour; Kais Douzi; Dorra Chouachi; Fethi Mellouli; Mohamed Bejaoui; Salem Abbes

    2014-01-01

    International audience; β-Globin haplotypes are important to establish the ethnic origin and predict the clinical development of sickle cell disease patients (SCD). To determine the chromosomal background of β (S) Tunisian sickle cell patients, in this first study in Tunisia, we have explored four polymorphic regions of β-globin cluster on chromosome 11. It is the 5' region of β-LCR-HS2 site, the intervening sequence II (IVSII) region of two fetal ((G)γ and (A)γ) genes and the 5' region of β-...

  9. Iron deficiency decreases hemolysis in sickle cell anemia Anemia ferropriva diminui hemólise em anemia falciforme

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    Oswaldo Castro

    2009-02-01

    Full Text Available A woman with homozygous sickle cell disease developed severe iron deficiency due to long-standing uterine bleeding. At this point, the serum lactic dehydrogenase level was normal and the reticulocyte count was only minimally elevated. This suggested that the low red cell hemoglobin concentration that resulted from iron deficiency also decreased Hb S polymerization and lowered the hemolytic rate. Iron replacement led first to a substantially improved hemoglobin concentration with only a minimal increase in the hemolytic rate and secondarily to a modest further improvement in the hemoglobin concentration and a marked increase in the hemolytic rate. The hematologic changes observed in this patient, and those in other iron deficient sickle cell patients reported in the literature, suggest that it may be appropriate to consider the induction of an intermediate iron deficient stage as experimental treatment in adult sickle cell patients.Uma mulher com anemia falciforme homozigose para a Hb S evoluiu com anemia ferropriva grave devido a sangramento uterino prolongado. A dosagem de dehidrogenase lática era normal e a contagem de reticulócitos estava levemente aumentada. Isto sugere que concentrações baixas de hemoglobina, que resulta de anemia ferropriva, também diminuem a polimeração de Hb S e reduz a taxa de hemólise. O complemento de ferro levou, primeiramente, a uma concentração substancialmente maior de hemoglobina com apenas um aumento mínimo na taxa hemolítica e subsequentemente a um aumento leve adicional na concentração da hemoglobina e um aumento notável na taxa hemolítica. As mudanças hematológicas observadas nesta paciente e aquelas em outras pacientes com anemia falciforme e também deficientes de ferro relatadas na literatura sugerem que pode ser interessante considerar a indução de deficiência de ferro como tratamento experimental em pacientes adultos com anemia falciforme.

  10. A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.

    Directory of Open Access Journals (Sweden)

    Jacqueline N Milton

    Full Text Available Serum bilirubin levels have been associated with polymorphisms in the UGT1A1 promoter in normal populations and in patients with hemolytic anemias, including sickle cell anemia. When hemolysis occurs circulating heme increases, leading to elevated bilirubin levels and an increased incidence of cholelithiasis. We performed the first genome-wide association study (GWAS of bilirubin levels and cholelithiasis risk in a discovery cohort of 1,117 sickle cell anemia patients. We found 15 single nucleotide polymorphisms (SNPs associated with total bilirubin levels at the genome-wide significance level (p value <5 × 10(-8. SNPs in UGT1A1, UGT1A3, UGT1A6, UGT1A8 and UGT1A10, different isoforms within the UGT1A locus, were identified (most significant rs887829, p = 9.08 × 10(-25. All of these associations were validated in 4 independent sets of sickle cell anemia patients. We tested the association of the 15 SNPs with cholelithiasis in the discovery cohort and found a significant association (most significant p value 1.15 × 10(-4. These results confirm that the UGT1A region is the major regulator of bilirubin metabolism in African Americans with sickle cell anemia, similar to what is observed in other ethnicities.

  11. Quantifying the abnormal hemodynamics of sickle cell anemia

    Science.gov (United States)

    Lei, Huan; Karniadakis, George

    2012-02-01

    Sickle red blood cells (SS-RBC) exhibit heterogeneous morphologies and abnormal hemodynamics in deoxygenated states. A multi-scale model for SS-RBC is developed based on the Dissipative Particle Dynamics (DPD) method. Different cell morphologies (sickle, granular, elongated shapes) typically observed in deoxygenated states are constructed and quantified by the Asphericity and Elliptical shape factors. The hemodynamics of SS-RBC suspensions is studied in both shear and pipe flow systems. The flow resistance obtained from both systems exhibits a larger value than the healthy blood flow due to the abnormal cell properties. Moreover, SS-RBCs exhibit abnormal adhesive interactions with both the vessel endothelium cells and the leukocytes. The effect of the abnormal adhesive interactions on the hemodynamics of sickle blood is investigated using the current model. It is found that both the SS-RBC - endothelium and the SS-RBC - leukocytes interactions, can potentially trigger the vicious ``sickling and entrapment'' cycles, resulting in vaso-occlusion phenomena widely observed in micro-circulation experiments.

  12. Increased adhesive and inflammatory properties in blood outgrowth endothelial cells from sickle cell anemia patients.

    Science.gov (United States)

    Sakamoto, Tatiana Mary; Lanaro, Carolina; Ozelo, Margareth Castro; Garrido, Vanessa Tonin; Olalla-Saad, Sara Teresinha; Conran, Nicola; Costa, Fernando Ferreira

    2013-11-01

    The endothelium plays an important role in sickle cell anemia (SCA) pathophysiology, interacting with red cells, leukocytes and platelets during the vaso-occlusive process and undergoing activation and dysfunction as a result of intravascular hemolysis and chronic inflammation. Blood outgrowth endothelial cells (BOECs) can be isolated from adult peripheral blood and have been used in diverse studies, since they have a high proliferative capacity and a stable phenotype during in vitro culture. This study aimed to establish BOEC cultures for use as an in vitro study model for endothelial function in sickle cell anemia. Once established, BOECs from steady-state SCA individuals (SCA BOECs) were characterized for their adhesive and inflammatory properties, in comparison to BOECs from healthy control individuals (CON BOECs). Cell adhesion assays demonstrated that control individual red cells adhered significantly more to SCA BOEC than to CON BOEC. Despite these increased adhesive properties, SCA BOECs did not demonstrate significant differences in their expression of major endothelial adhesion molecules, compared to CON BOECs. SCA BOECs were also found to be pro-inflammatory, producing a significantly higher quantity of the cytokine, IL-8, than CON BOECs. From the results obtained, we suggest that BOEC may be a good model for the in vitro study of SCA. Data indicate that endothelial cells of sickle cell anemia patients may have abnormal inflammatory and adhesive properties even outside of the chronic inflammatory and vaso-occlusive environment of patients.

  13. Estimating Rates of Psychosocial Problems in Urban and Poor Children with Sickle Cell Anemia.

    Science.gov (United States)

    Barbarin, Oscar A.; And Others

    1994-01-01

    Examined adjustment problems for children and adolescents with sickle cell anemia (SCA). Parents provided information on social, emotional, academic, and family adjustment of 327 children with SCA. Over 25% of children had emotional adjustment problems in form of internalizing symptoms (anxiety and depression); at least 20% had problems related to…

  14. Haplotype Map of Sickle Cell Anemia in Tunisia

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    Imen Moumni

    2014-01-01

    Full Text Available β-Globin haplotypes are important to establish the ethnic origin and predict the clinical development of sickle cell disease patients (SCD. To determine the chromosomal background of βS Tunisian sickle cell patients, in this first study in Tunisia, we have explored four polymorphic regions of β-globin cluster on chromosome 11. It is the 5′ region of β-LCR-HS2 site, the intervening sequence II (IVSII region of two fetal (γG and γA genes and the 5′ region of β-globin gene. The results reveal a high molecular diversity of a microsatellite configuration describing the sequences haplotypes. The linkage disequilibrium analysis showed various haplotype combinations giving 22 “extended haplotypes”. These results confirm the utility of the β-globin haplotypes for population studies and contribute to knowledge of the Tunisian gene pool, as well as establishing the role of genetic markers in physiopathology of SCD.

  15. Haplotype map of sickle cell anemia in Tunisia.

    Science.gov (United States)

    Moumni, Imen; Ben Mustapha, Maha; Sassi, Sarra; Zorai, Amine; Ben Mansour, Ikbel; Douzi, Kais; Chouachi, Dorra; Mellouli, Fethi; Bejaoui, Mohamed; Abbes, Salem

    2014-01-01

    β-Globin haplotypes are important to establish the ethnic origin and predict the clinical development of sickle cell disease patients (SCD). To determine the chromosomal background of β (S) Tunisian sickle cell patients, in this first study in Tunisia, we have explored four polymorphic regions of β-globin cluster on chromosome 11. It is the 5' region of β-LCR-HS2 site, the intervening sequence II (IVSII) region of two fetal ((G)γ and (A)γ) genes and the 5' region of β-globin gene. The results reveal a high molecular diversity of a microsatellite configuration describing the sequences haplotypes. The linkage disequilibrium analysis showed various haplotype combinations giving 22 "extended haplotypes". These results confirm the utility of the β-globin haplotypes for population studies and contribute to knowledge of the Tunisian gene pool, as well as establishing the role of genetic markers in physiopathology of SCD.

  16. Sickle Cell Disease and Your Baby

    Science.gov (United States)

    ... of SCD? Yes. Common kinds of SCD are: Sickle cell anemia (also called hemoglobin SS). Hemoglobin is the part of ... carries oxygen to the rest of the body. Sickle cell anemia is caused when a baby gets one sickle ...

  17. Oxidant-antioxidant status in Egyptian children with sickle cell anemia: a single center based study

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    Mona Kamal El-Ghamrawy

    2014-06-01

    Full Text Available OBJECTIVE: the present study was conducted to investigate the oxidant-antioxidant status in Egyptian children with sickle cell anemia. METHODS: the serum levels of total antioxidant capacity (TAO, paraoxonase (PON, vitamin E, nitrite, and malondialdehyde (MDA were measured in 40 steady state children with homozygous sickle cell anemia (24 males and 16 females and 20 apparently healthy age- and gender-matched controls. RESULTS: mean serum TAO, PON, vitamin E, and nitrite levels were significantly lower in the group with sickle cell anemia, whereas mean serum MDA was significantly higher in these children compared to controls. No significant differences in mean levels of TAO, PON, nitrite, vitamin E, and MDA were found in sickle cell anemia patients receiving hydroxyurea when compared with those not receiving hydroxyurea. A significant negative correlation between serum nitrite and the occurrence of vaso-occlusive crises (VOC was observed (r = -0.3, p = 0.04. PON level was found to be positively correlated with patients' weight and BMI (r = -0.4, p = 0.01; r = -0.7, p < 0.001, respectively, but not with frequency of VOC. The area under the curve of serum nitrite in predicting occurrence of VOC was 0.782, versus 0.701 for PON, and 0.650 for TAO (p = 0.006. Serum MDA was not correlated with nitrite, PON, TAO, or vitamin E levels. No significant correlations were detected between serum nitrite and hemoglobin or antioxidant enzymes. CONCLUSION: children with sickle cell anemia have chronic oxidative stress that may result in increased VOC, and decreased serum nitrite may be associated with increases in VOC frequency. A novel finding in this study is the decrease in PON level in these patients, which is an interesting subject for further research.

  18. Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia.

    OpenAIRE

    1989-01-01

    A rapid nonradioactive approach to the diagnosis of sickle cell anemia is described based on an allele-specific polymerase chain reaction (ASPCR). This method allows direct detection of the normal or the sickle cell beta-globin allele in genomic DNA without additional steps of probe hybridization, ligation, or restriction enzyme cleavage. Two allele-specific oligonucleotide primers, one specific for the sickle cell allele and one specific for the normal allele, together with another primer co...

  19. The Sickle Cell Anemia health problems. Traditional and Modern treatment practices among the Soliga tribes at B.R.Hills, South India

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    Madegowda C.

    2013-12-01

    Full Text Available The Sickle Cell Disease or the Sickle cell anemia common genetic disease affects millions of people worldwide. Many Soliga tribals suffer from the genetic disorder of the Sickle Cell Disease, 4.2% of the Soligas have AS type of Sickle cell trait (heterozygous, 0.2% of the Soligas have the Sickle cell anemia (homozygous, and the remaining 95.6% of the Soligas have normal haemoglobin, Traditionally, they include different types of folic acid related green leaves, fruits, and tubers in their daily diet which helps in the natural control of the disease since there is a lack of Sickle cell anemia treatment facilities in the tribal areas. This paper will focus on the spread of the Sickle Cell Disease among the Soligas, including their food habits, traditional treatments, and the different types of pains which the patients are facing, as well as their awareness and expected Sickle cell anemia steps to help in curbing it.

  20. `Untangling Sickle-cell Anemia and the Teaching of Heterozygote Protection'

    Science.gov (United States)

    Howe, Eric Michael

    2007-01-01

    Introductory biology textbooks often use the example of sickle-cell anemia to illustrate the concept of heterozygote protection. Ordinarily scientists expect the frequency of a gene associated with a debilitating illness would be low owing to its continual elimination by natural selection. The gene that causes sickle-cell anemia, however, has a relatively high frequency in many parts of the world. Historically, scientists proposed and defended several alternative theories to account for this anomaly, though it is now widely recognized among the scientific community that high frequencies of the gene reflect its benefit to heterozygotes against malaria. Textbooks normally develop this concept with reference to the often-used maps of Africa showing how in areas where the frequency of the sickle-cell gene is high, there is also higher exposure to the disease malaria. While sickle-cell anemia is often the example of choice for explaining and illustrating the concept of heterozygote protection, the present paper argues that exploring the history of scientific research behind our contemporary understanding has advantages for helping students understand multiple factors related to population genetics (e.g. mutation, gene flow, drift) in addition to heterozygote protection. In so doing, this approach invites students to evaluate the legitimacy of their own alternative conceptions about introductory population genetics or about the genetics of the disease sickle-cell anemia. The various historical theories scientists proposed and defended often resemble those of students who first learn about the disease. As such, a discussion of how scientists reached consensus about the role of heterozygote protection may help students understand and appreciate what are now recognized to be limitations in the views they bring to their classrooms. The paper concludes by discussing the ramifications of this approach in potentially helping students to examine certain aspects of the nature of

  1. Long-term follow-up of kidney allografts in patients with sickle cell hemoglobinopathy Transplante renal na anemia falciforme

    OpenAIRE

    Friedrisch,João R.; Barros, Elvino J.; Roberto C. Manfro; Bittar,Cristhina M.; Silla,Lúcia M. R.

    2003-01-01

    Although sickle cell anemia and sickle cell disease produce a variety of functional renal abnormalities they uncommonly cause end stage renal failure. Renal transplantation has been a successful alternative for the treatment of the rare terminal chronic renal failure with outcomes comparable with non-sickle recipients. This approach, however, has not been often described on patients with renal failure associated with SC hemoglobinopathy. Here we report the outcomes of two patients with chroni...

  2. Benefits of kinesiotherapy and aquatic rehabilitation on sickle cell anemia. A case report.

    Science.gov (United States)

    Tinti, G; Somera, R; Valente, F M; Domingos, C R B

    2010-03-02

    The process of hemoglobin polymerization and the consequent sickling of red blood cells that occurs in patients with sickle cell disease shortens the half-life of red blood cells. It causes vaso-occlusive complications, as well as pain and pulmonary and cardiovascular dysfunction. We evaluated an aquatic rehabilitation program used for patients with sickle cell anemia and examined the possible benefits that exercise in warm water has for the circulatory system, for relieving pain, and for increasing lung capacity. The patient was a 32-year-old female. The parameters that we used in this study include respiratory muscle strength (which was calculated by measuring maximum inspiratory pressures and maximum expiratory pressures), the McGill and Wisconsin pain questionnaires (in order to evaluate the patients' characterizations and descriptions of their pain), and the SF-36 Health Survey. The treatment included warm water exercises, stretching, aerobic exercise, and relaxation, during two sessions of 45 min per week for 5 weeks. The patient experienced a significant decrease in pain, a significant increase in the strength of respiratory muscles, and improved quality of life. We conclude that aquatic rehabilitation can be used to improve the clinical condition of sickle cell anemia patients, and we encourage more research on this new treatment regime, in comparison with other types of therapies.

  3. Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.

    Science.gov (United States)

    Goossens, M; Dumez, Y; Kaplan, L; Lupker, M; Chabret, C; Henrion, R; Rosa, J

    1983-10-06

    To investigate the usefulness of chorionic biopsy for prenatal diagnosis of sickle-cell anemia by restriction-endonuclease analysis of fetal DNA, we studied 30 pregnancies before elective abortion. When the reproducibility of the technique for obtaining adequate DNA samples was established, we successfully applied the test to five pregnancies at risk for sickle-cell anemia. In two cases, sickle-cell disease of the fetus led to a decision to terminate the pregnancy. In three other cases, a normal or AS genotype was demonstrated. One normal infant has been born, and one other pregnancy is continuing normally. In one case in which fetal death was observed three weeks after sampling, placental abnormalities found on histologic examination were compatible with a chromosomal aberration. Our study shows that chorionic biopsy is feasible for the prenatal diagnosis of sickle-cell disease before the 10th gestational week. If subsequent experience demonstrates this technique to be safe enough for mother and fetus, the ability to test in early pregnancy may make prenatal diagnosis acceptable to more couples at risk for serious genetic disorders.

  4. Sociodemographic aspects and quality of life of patients with sickle cell anemia

    Science.gov (United States)

    dos Santos, Juliana Pereira; Gomes Neto, Mansueto

    2013-01-01

    Background Sickle cell anemia is a chronic inherited disease, widespread in the Brazilian population due to the high degree of miscegenation in the country. Despite the high prevalence, there are few studies describing the characteristics of patients and the impact of the disease on quality of life. Objective To describe the sociodemographic profile and the impact of the disease on the quality of life of sickle cell anemia patients. Methods Over 18-year-old patients with sickle cell anemia who attended meetings held by the Associação Baiana de Portadores de Doenças Falciformes, an association for sickle cell anemia patients in Bahia, were interviewed. Sociodemographic data were collected and the generic the Medical Outcomes 36-Item Short-Form Health Survey (SF-36) questionnaire, which is used to assess quality of life, was applied. The analysis of the descriptive statistics was performed using the Statistics Program for the Social Sciences software. Results Thirty-two mostly female (65.6%) patients were interviewed. The mean age was 31.9 ± 12.67 years, 50.0% considered themselves black, 68.8% did not work and 87.5% had per capita income below the poverty line (up to one and a half minimum wages). The SF-36 scores were: limitation by physical aspects 26.56, functional capacity 28.9, emotional aspects 30.20, social aspects, 50.0, pain 50.31, mental health 54.62, general health status 56.09 and vitality 56.71. This shows that the disease has a huge impact on the patients' quality of life. Conclusion The disease interferes in the working capacity of individuals, who mostly have low incomes and impaired access to healthcare services and significantly impacts on their quality of life. PMID:24106440

  5. Sociodemographic aspects and quality of life of patients with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Juliana Pereira dos Santos

    2013-01-01

    Full Text Available BACKGROUND: Sickle cell anemia is a chronic inherited disease, widespread in the Brazilian population due to the high degree of miscegenation in the country. Despite the high prevalence, there are few studies describing the characteristics of patients and the impact of the disease on quality of life. OBJECTIVE: To describe the sociodemographic profile and the impact of the disease on the quality of life of sickle cell anemia patients. METHODS: Over 18-year-old patients with sickle cell anemia who attended meetings held by the Associação Baiana de Portadores de Doenças Falciformes, an association for sickle cell anemia patients in Bahia, were interviewed. Sociodemographic data were collected and the generic the Medical Outcomes 36-Item Short-Form Health Survey (SF-36 questionnaire, which is used to assess quality of life, was applied. The analysis of the descriptive statistics was performed using the Statistics Program for the Social Sciences software. RESULTS: Thirty-two mostly female (65.6% patients were interviewed. The mean age was 31.9 ± 12.67 years, 50.0% considered themselves black, 68.8% did not work and 87.5% had per capita income below the poverty line (up to one and a half minimum wages. The SF-36 scores were: limitation by physical aspects 26.56, functional capacity 28.9, emotional aspects 30.20, social aspects, 50.0, pain 50.31, mental health 54.62, general health status 56.09 and vitality 56.71. This shows that the disease has a huge impact on the patients' quality of life. CONCLUSION: The disease interferes in the working capacity of individuals, who mostly have low incomes and impaired access to healthcare services and significantly impacts on their quality of life.

  6. Prenatal molecular diagnosis of β-thalassemia and sickle cell anemia in the Syrian population.

    Science.gov (United States)

    Murad, Hossam; Moassas, Faten; Jarjour, Rami; Mukhalalaty, Yasser; Al-Achkar, Walid

    2014-01-01

    Our objective was to evaluate the prenatal diagnosis (PND) of β-thalassemia (β-thal) and sickle cell anemia in Syria. Mutations detected from blood of at-risk couples and 55 amniotic fluid samples collected at the second trimester of pregnancy (14-22 weeks' gestation) were characterized. Molecular screening and direct DNA sequencing of the HBB gene was carried out. DNA analyses showed 14 affected fetuses (25.45%), 32 (58.18%) carriers and eight (14.54%) normal fetuses. It appears that 20.0% of individuals carried the sickle cell anemia mutation and 80.0% carried the β-thal mutation. Thirteen different known mutations were detected in the fetuses. The most common mutations were: IVS-II-1 (G > A), codon 39 (C > T)], IVS-I-110 (G > A), IVS-I-1 (G > A) and IVS-I-5 (G > C). The Hb S [β6(A3)Glu → Val; HBB: c.20A > T] mutation was the only abnormal hemoglobin (Hb) that was found. The results point to a successful future for PND of β-thal and sickle cell anemia in Syria, using a rapid and accurate molecular method. We hope that this method will be used as a common application approach to decrease the incidence of β-thal major (β-TM).

  7. The influence of hydroxyurea on oxidative stress in sickle cell anemia

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    Lidiane de Souza Torres

    2012-01-01

    Full Text Available OBJECTIVE: The oxidative stress in 20 sickle cell anemia patients taking hydroxyurea and 13 sickle cell anemia patients who did not take hydroxyurea was compared with a control group of 96 individuals without any hemoglobinopathy. METHODS: Oxidative stress was assessed by thiobarbituric acid reactive species production, the Trolox-equivalent antioxidant capacity and plasma glutathione levels. RESULTS: Thiobarbituric acid reactive species values were higher in patients without specific medication, followed by patients taking hydroxyurea and the Control Group (p < 0.0001. The antioxidant capacity was higher in patients taking hydroxyurea and lower in the Control Group (p = 0.0002 for Trolox-equivalent antioxidant capacity and p < 0.0292 for plasma glutathione. Thiobarbituric acid reactive species levels were correlated with higher hemoglobin S levels (r = 0.55; p = 0.0040 and lower hemoglobin F concentrations(r = -0.52; p = 0.0067. On the other hand, plasma glutathione levels were negatively correlated with hemoglobin S levels (r = -0.49; p = 0.0111 and positively associated with hemoglobin F values (r = 0.56; p = 0.0031. CONCLUSION: Sickle cell anemia patients have high oxidative stress and, conversely, increased antioxidant activity. The increase in hemoglobin F levels provided by hydroxyurea and its antioxidant action may explain the reduction in lipid peroxidation and increased antioxidant defenses in these individuals.

  8. The influence of hydroxyurea on oxidative stress in sickle cell anemia

    Science.gov (United States)

    Torres, Lidiane de Souza; da Silva, Danilo Grünig Humberto; Belini Junior, Edis; de Almeida, Eduardo Alves; Lobo, Clarisse Lopes de Castro; Cançado, Rodolfo Delfini; Ruiz, Milton Artur; Bonini-Domingos, Claudia Regina

    2012-01-01

    Objective The oxidative stress in 20 sickle cell anemia patients taking hydroxyurea and 13 sickle cell anemia patients who did not take hydroxyurea was compared with a control group of 96 individuals without any hemoglobinopathy. Methods Oxidative stress was assessed by thiobarbituric acid reactive species production, the Trolox-equivalent antioxidant capacity and plasma glutathione levels. Results Thiobarbituric acid reactive species values were higher in patients without specific medication, followed by patients taking hydroxyurea and the Control Group (p < 0.0001). The antioxidant capacity was higher in patients taking hydroxyurea and lower in the Control Group (p = 0.0002 for Trolox-equivalent antioxidant capacity and p < 0.0292 for plasma glutathione). Thiobarbituric acid reactive species levels were correlated with higher hemoglobin S levels (r = 0.55; p = 0.0040) and lower hemoglobin F concentrations(r = -0.52; p = 0.0067). On the other hand, plasma glutathione levels were negatively correlated with hemoglobin S levels (r = -0.49; p = 0.0111) and positively associated with hemoglobin F values (r = 0.56; p = 0.0031). Conclusion Sickle cell anemia patients have high oxidative stress and, conversely, increased antioxidant activity. The increase in hemoglobin F levels provided by hydroxyurea and its antioxidant action may explain the reduction in lipid peroxidation and increased antioxidant defenses in these individuals. PMID:23323065

  9. Aspectos moleculares da anemia falciforme Molecular aspects for sickle cell anemia

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    Gentil Claudino de Galiza Neto

    2003-01-01

    Full Text Available No presente artigo abordaram-se vários aspectos relacionados à natureza molecular da anemia falciforme, desordem hematológica de caráter hereditário que acomete expressivo número de indivíduos em várias regiões do mundo. As pesquisas realizadas em torno desta patologia da hemácia, ao longo de quase um século, a partir de 1910, cooperaram para a criação de um novo e importante segmento da ciência, denominado biologia molecular. A descoberta dos polimorfismos da mutação (GAT->GTG no gene que codifica a cadeia beta da hemoglobina, originando diferentes haplótipos da doença, permitiu um melhor e mais amplo conhecimento em torno da heterogeneidade clínica nos pacientes falcêmicos. Analisando a hemoglobina na sua estrutura normal e mutante, sua produção e evolução, pode-se ter um entendimento mais completo da fisiopatologia desta doença e da sua complexidade clínica.The present article dealt with various aspects related to molecular nature of sickle cell disease (SCD, a heritable hematology disorder that attacks a great number of people in different regions of the world. Researches done on red cell patology, in approximately half a century, starting since 1910, cooperated to gave origin a new branch of science called molecular biology. The discovery of mutation polymorphism (GAT -> GTC in the gene that codifies beta globin chain, give origin to different illness haplotypes, permitted a better and great knowledge about the clinic heterogeneity of the patients. Analysing hemoglobin in its normal and mutation structure as well as in its productions and evolution, one can have a complete understanding of the illness phisiopathology and its clinical complexity.

  10. Analysis of hemoglobin F production in Saudi Arabian families with sickle cell anemia.

    Science.gov (United States)

    Miller, B A; Salameh, M; Ahmed, M; Olivieri, N; Antognetti, G; Orkin, S H; Huisman, T H; Nathan, D G

    1987-09-01

    Erythrocytes and progenitor-derived erythroblasts of sickle cell anemia patients from the Eastern Province of Saudi Arabia contain increased fetal hemoglobin and G gamma globin. A distinctive DNA polymorphism haplotype in the beta globin gene cluster (++- +-), tightly coupled to a C----T substitution at position -158 5' to the cap site of the G gamma globin gene, is strongly associated with sickle cell disease in this region. To determine whether the increased fetal hemoglobin production and/or elevated G gamma globin content are tightly linked to this haplotype, we studied 55 members of five Saudi families in which sickle cell disease is present. The results did not suggest a tight linkage of the haplotype to increased fetal hemoglobin production. On the other hand, several sickle trait family members heterozygous for the haplotype had normal fetal hemoglobin production in culture but elevated G gamma to A gamma ratios in peripheral blood. This observation suggests that in this genetic background increased expression of the G gamma globin gene may occur without a measurable increase in total fetal hemoglobin production. The family studies also clearly demonstrate that increased fetal hemoglobin production by erythroid progenitors is dependent on zygosity for the sickle gene in this population. These findings strongly suggest that other factors, such as the products of genes stimulated by hemolytic stress or other genetic determinants associated with the Saudi beta S chromosome, may interact with the -158 C----T substitution and influence gamma globin gene expression in this population.

  11. The Senegal DNA haplotype is associated with the amelioration of anemia in African-American sickle cell anemia patients.

    Science.gov (United States)

    Nagel, R L; Erlingsson, S; Fabry, M E; Croizat, H; Susuka, S M; Lachman, H; Sutton, M; Driscoll, C; Bouhassira, E; Billett, H H

    1991-03-15

    We have previously determined that in African sickle cell anemia (SS) patients three different beta-like globin gene cluster haplotypes are associated with different percent G gamma (one of the two types of non-alpha chains comprising hemoglobin F [HbF]), mean percent HbF, and percent dense cells. We report now that in adult New York SS patients, the presence of at least one chromosome with the Senegal haplotype is associated with higher Hb levels (1.2 g/dL higher) than is found for any other non-Senegal haplotype (P less than .004). The percent reticulocytes and the serum bilirubin levels were lower in these patients. When the effect of alpha-gene number was analyzed by examining a sample of SS patients with concomitant alpha-thalassemia, the same results were obtained. Because the HbF level is significantly higher among the Senegal haplotype carriers in this sample, the inhibitory effect on sickling of this Hb variant may be one of the reasons for the haplotype effect. We conclude that the Senegal beta-like globin gene cluster haplotype is associated with an amelioration of the hemolytic anemia that characterizes sickle cell disease.

  12. Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type.

    Science.gov (United States)

    Nagel, R L; Fabry, M E; Pagnier, J; Zohoun, I; Wajcman, H; Baudin, V; Labie, D

    1985-04-04

    Patients with sickle cell anemia vary in the hematologic and clinical features of their disease, in part because of variability in the presence of linked and unlinked genes that modify the expression of the disease. The hemoglobin S gene is strongly linked to three different haplotypes of polymorphic endonuclease-restriction sites of the beta-like gene cluster (genes in the vicinity of the beta-globin gene)--one prevalent in Atlantic West Africa, another in central West Africa, and yet another in Bantu-speaking Africa (equatorial, East, and southern Africa). We have studied the differences in the hematologic characteristics of patients with sickle cell anemia from the first two geographical areas. We find that the Senegalese (Atlantic West Africa) patients have higher levels of hemoglobin F, a preponderance of G gamma chains in hemoglobin F, a lower proportion of very dense red cells, and a lower percentage of irreversibly sickled cells than those from Benin (central West Africa). We interpret these data to mean that the gamma-chain composition and the hemoglobin F level are haplotype linked and that the decrease in the percentage of dense cells and irreversibly sickled cells is secondary to the elevation in the hemoglobin F level. Patients with sickle cell anemia in the New World probably correspond to various combinations of these types, in addition to the still hematologically undefined haplotype associated with sickle cell anemia in the Bantu-speaking areas of Africa.

  13. Immunologic Effects of Hydroxyurea in Sickle Cell Anemia

    Science.gov (United States)

    Lederman, Howard M.; Connolly, Margaret A.; Kalpatthi, Ram; Ware, Russell E.; Wang, Winfred C.; Luchtman-Jones, Lori; Waclawiw, Myron; Goldsmith, Jonathan C.; Swift, Andrea

    2014-01-01

    BACKGROUND AND OBJECTIVE: Susceptibility to encapsulated bacteria is well known in sickle cell disease (SCD). Hydroxyurea use is common in adults and children with SCD, but little is known about hydroxyurea’s effects on immune function in SCD. Because hydroxyurea inhibits ribonucleotide reductase, causing cell cycle arrest at the G1–S interface, we postulated that hydroxyurea might delay transition from naive to memory T cells, with inhibition of immunologic maturation and vaccine responses. METHODS: T-cell subsets, naive and memory T cells, and antibody responses to pneumococcal and measles, mumps, and rubella vaccines were measured among participants in a multicenter, randomized, double-blind, placebo-controlled trial of hydroxyurea in infants and young children with SCD (BABY HUG). RESULTS: Compared with placebo, hydroxyurea treatment resulted in significantly lower total lymphocyte, CD4, and memory T-cell counts; however, these numbers were still within the range of historical healthy controls. Antibody responses to pneumococcal vaccination were not affected, but a delay in achieving protective measles antibody levels occurred in the hydroxyurea group. Antibody levels to measles, mumps, and rubella showed no differences between groups at exit, indicating that effective immunization can be achieved despite hydroxyurea use. CONCLUSIONS: Hydroxyurea does not appear to have significant deleterious effects on the immune function of infants and children with SCD. Additional assessments of lymphocyte parameters of hydroxyurea-treated children may be warranted. No changes in current immunization schedules are recommended; however, for endemic disease or epidemics, adherence to accelerated immunization schedules for the measles, mumps, and rubella vaccine should be reinforced. PMID:25180279

  14. Sickle Cell Anemia: psychosocial impact on children and family

    Directory of Open Access Journals (Sweden)

    Vasiliki Georgousopoulou

    2015-04-01

    Full Text Available Introduction: Sickle cell disease (SCD dramatically affects the wellbeing of patients by leading to disabilities, poor quality-of-life and reduced life expectancy. The morbidity and chronic nature of the disease inevitably affect the psyche and behavior of both patients and their families. Objective: To review the existing literature in order to highlight the psychosocial areas which are mainly affected by SCD with respect to the patients, the cohesion and functionality of their families and the interpersonal relations between family members. Materials and Methods: Both original research and review papers published in the last 30 years were searched within the PubMed database with particular emphasis on publications since 2000. The term SCD was combined with the following key words: coping, psychosocial problems, depression, and psychological problems. Selection of articles was based on representativeness and methodological adequacy. Results: High rates of anxiety, depression, behavioral problems and difficulties in interpersonal relationships are observed in SCD patients. SCD also affects family function and coherence. A well built social welfare system (network can play a protective role. Despite the extensive documentation of psychological problems in patients with SCD, proper emphasis on prevention, etiological and holistic treatment and shielding of these families is lacking in daily clinical practice. Conclusions: The therapeutic approach of patients with SCD should always include the timely identification of dysfunctions in both children and their families and attempt to reduce the disproportionate burden that they are forced to withstand.

  15. Cognitive deficits are associated with unemployment in adults with sickle cell anemia.

    Science.gov (United States)

    Sanger, Maureen; Jordan, Lori; Pruthi, Sumit; Day, Matthew; Covert, Brittany; Merriweather, Brenda; Rodeghier, Mark; DeBaun, Michael; Kassim, Adetola

    2016-08-01

    An estimated 25-60% of adults with sickle cell disease (SCD) are unemployed. Factors contributing to the high unemployment rate in this population are not well studied. With the known risk of cognitive deficits associated with SCD, we tested the hypothesis that unemployment is related to decrements in intellectual functioning. We conducted a retrospective chart review of 50 adults with sickle cell anemia who completed cognitive testing, including the Wechsler Adult Intelligence Scale-IV, as part of standard care. Employment status was recorded at the time of testing. Medical variables examined as possible risk factors for unemployment included disease phenotype, cerebral infarction, and pain frequency. The mean age of the sample was 30.7 years (range = 19-59); 56% were women. Almost half of the cohort (44%) were unemployed. In a multivariate logistic regression model, lower IQ scores (odds ratio = 0.88; p = .002, 95% confidence interval, CI [0.82, 0.96]) and lower educational attainment (odds ratio = 0.13; p = .012, 95% CI [0.03, 0.65]) were associated with increasing odds of unemployment. The results suggest that cognitive impairment in adults with sickle cell anemia may contribute to the risk of unemployment. Helping these individuals access vocational rehabilitation services may be an important component of multidisciplinary care.

  16. Acute splenic sequestration in a pregnant woman with homozygous sickle-cell anemia

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    Carolina Bastos Maia

    Full Text Available CONTEXT Homozygous (SS sickle-cell anemia complicated by acute splenic sequestration in adults is a rare event, and it has never been reported during pregnancy. CASE REPORT A 25-year-old woman with homozygous (SS sickle-cell disease was hospitalized at 32 weeks' of gestation presenting weakness, abdominal pain, fever and hemoglobin of 2.4 g/dl. Abnormal fetal heart rate was detected by means of cardiotocography, and 5 units of packed red cells were transfused. Cesarean was performed at 37 weeks. Both mother and baby were discharged in a good general condition. CONCLUSION This case report demonstrates the importance of immediate blood transfusion for treatment of fetal distress in cases of splenic sequestration during pregnancy. This treatment is essential for avoiding maternal and fetal complications.

  17. Genetics Home Reference: sickle cell disease

    Science.gov (United States)

    ... subunits in hemoglobin is replaced with hemoglobin S. In sickle cell anemia, which is a common form of sickle cell ... Baby's First Test: S, C Disease Baby's First Test: Sickle Cell Anemia GeneReview: Sickle Cell Disease Genomics Education Programme (UK) ...

  18. Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease.

    Science.gov (United States)

    Baptista, Letícia C; Costa, Maria Laura; Ferreira, Regiane; Albuquerque, Dulcinéia M; Lanaro, Carolina; Fertrin, Kleber Y; Surita, Fernanda G; Parpinelli, Mary A; Costa, Fernando F; Melo, Mônica Barbosa de

    2016-10-01

    Sickle cell disease (SCD) is a complex disease that is characterized by the polymerization of deoxyhemoglobin S, altered red blood cell membrane biology, endothelial activation, hemolysis, a procoagulant state, acute and chronic inflammation, and vaso-occlusion. Among the physiological changes that occur during pregnancy, oxygen is consumed by fetal growth, and pregnant women with SCD are more frequently exposed to low oxygen levels. This might lead to red blood cells sickling, and, consequently, to vaso-occlusion. The mechanisms by which SCD affects placental physiology are largely unknown, and chronic inflammation might be involved in this process. This study aimed to evaluate the gene expression profile of inflammatory response mediators in the placentas of pregnant women with sickle cell cell anemia (HbSS) and hemoglobinopathy SC (HbSC). Our results show differences in a number of these genes. For the HbSS group, when compared to the control group, the following genes showed differential expression: IL1RAP (2.76-fold), BCL6 (4.49-fold), CXCL10 (-2.12-fold), CXCR1 (-3.66-fold), and C3 (-2.0-fold). On the other hand, the HbSC group presented differential expressions of the following genes, when compared to the control group: IL1RAP (4.33-fold), CXCL1 (3.05-fold), BCL6 (4.13-fold), CXCL10 (-3.32-fold), C3 (-2.0-fold), and TLR3 (2.38-fold). Taken together, these data strongly suggest a differential expression of several inflammatory genes in both SCD (HbSS and HbSC), indicating that the placenta might become an environment with hypoxia, and increased inflammation, which could lead to improper placental development.

  19. Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia

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    Roberta Faria Camilo-Araújo

    2014-10-01

    Full Text Available Objectives: To analyze the frequency of βS-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia. Method: The frequency of βS-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3–71 months. The confirmation of hemoglobin SS and determination of the haplotypes were achieved by polymerase chain reaction-restriction fragment length polymorphism, and alpha-thalassemia genotyping was by multiplex polymerase chain reaction (single-tube multiplex-polymerase chain reaction. Results: The genotype distribution of haplotypes was 43 (36.7% Central African Republic/Benin, 41 (35.0% Central African Republic/Central African Republic, 20 (17.0% Rare/atypical, and 13 (11.1% Benin/Benin. The frequency of the α3.7 deletion was 1.71% as homozygous (−α3.7/−α3.7 and 11.9% as heterozygous (−α3.7/αα. The only significant association in respect to haplotypes was related to the mean corpuscular volume. The presence of alpha-thalassemia was significantly associated to decreases in mean corpuscular volume, mean corpuscular hemoglobin and reticulocyte count and to an increase in the red blood cell count. There were no significant associations of βS-globin haplotypes and alpha-thalassemia with clinical manifestations. Conclusions: In the study population, the frequency of alpha-thalassemia was similar to published data in Brazil with the Central African Republic haplotype being the most common, followed by the Benin haplotype. βS-globin haplotypes and interaction between alpha-thalassemia and sickle cell anemia did not influence fetal hemoglobin concentrations or the number of clinical manifestations.

  20. Left ventricular hypertrophy in children, adolescents and young adults with sickle cell anemia

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    Gustavo Baptista de Almeida Faro

    2015-10-01

    Full Text Available OBJECTIVE: The aims of this study were to estimate the frequency of left ventricular hypertrophy and to identify variables associated with this condition in under 25-year-old patients with sickle cell anemia.METHODS: A cross-sectional study was performed of children, adolescents and young adults with sickle cell anemia submitted to a transthoracic Doppler echocardiography. The mass of the left ventricle was determined by the formula of Devereux et al. with correction for height, and the percentile curves of gender and age were applied. Individuals with rheumatic and congenital heart disease were excluded. The patients were divided into two groups according to the presence or absence of left ventricular hypertrophy and compared according to clinical, echocardiographic and laboratory variables.RESULTS: A total of 37.6% of the patients had left ventricular hypertrophy in this sample. There was no difference between the groups of patients with and without hypertrophy according to pathological history or clinical characteristics, except possibly for the use of hydroxyurea, more often used in the group without left ventricular hypertrophy. Patients with left ventricular hypertrophy presented larger left atria and lower hemoglobin and hematocrit levels, reticulocyte index and a higher albumin:creatinine ratio in urine.CONCLUSION: Left ventricular hypertrophy was observed in more than one-third of the young patients with sickle cell anemia with this finding being inversely correlated to the hemoglobin and hematocrit levels, and reticulocyte index and directly associated to a higher albumin/creatinine ratio. It is possible that hydroxyurea had had a protective effect on the development of left ventricular hypertrophy.

  1. Parvovirus B19 infection in Tunisian patients with sickle-cell anemia and acute erythroblastopenia

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    Zili Mohamed

    2007-10-01

    Full Text Available Abstract Background Human parvovirus B19 is the etiologic agent of erythema infectiosum in children. It is also associated with other clinical manifestations in different target groups. Patients with chronic hemolytic anemia are at high risk of developing acute erythroblastopenia following infection by the virus. They usually become highly viremic and pose an increased risk of virus transmission. Close monitoring of such high risk groups is required for epidemiologic surveillance and disease prevention activities. Here we report a molecular epidemiological study on B19 virus infection in Tunisian patients with chronic hemolytic anemia. Methods This study was conducted on 92 young chronic hemolytic anemia patients who attended the same ward at the National Bone Marrow Transplantation Center of Tunis and 46 controls from a different hospital. Screening for IgM and IgG anti-B19 antibodies was performed using commercially available enzyme immunoassays and B19 DNA was detected by nested PCR in the overlapping VP1/VP2 region. DNA was sequenced using dideoxy-terminator cycle sequencing technology. Results Anti-parvovirus B19 IgG antibodies were detected in 26 of 46 sickle-cell anemia patients, 18 of 46 β-thalassemia and 7 of 46 controls. Anti-parvovirus B19 IgM antibodies were detected only in 4 of the sickle-cell anemia patients: two siblings and two unrelated who presented with acute erythroblastopenia at the time of blood collection for this study and had no history of past transfusion. B19 DNA was detected only in sera of these four patients and the corresponding 288 bp nested DNA amplicons were sequenced. The sequences obtained were all identical and phylogenetic analysis showed that they belonged to a new B19 virus strain of Genotype1. Conclusion A new parvovirus B19 strain of genotype1 was detected in four Tunisian patients with sickle-cell anemia. Virus transmission appeared to be nosocomial and resulted in acute erythroblastopenia in the four

  2. Fluidotherapy and exercise in the management of sickle cell anemia. A clinical report.

    Science.gov (United States)

    Alcorn, R; Bowser, B; Henley, E J; Holloway, V

    1984-10-01

    Children hospitalized during sickle cell anemia crises suffer restricted range of motion secondary to vasoocclusive-induced pain and are almost always nonambulatory. Texas Children's Hospital, Houston, TX, now refers most of these children to the Physical Therapy Department at St. Luke's Episcopal Hospital, Houston, TX, for Fluidotherapy and general strengthening and increased endurance programs. The Fluidotherapy treatment and the exercise program have resulted in a marked reduction in the length of hospitalization (compared with length of hospitalization by the same patients during previous episodes) and have permitted a major reduction in the dosage of analgesics previously administered. Spine, trunk, and extremity range of motion and gait improved markedly with treatment.

  3. TXRF analysis of multielements in serum of patients with sickle cell anemia (SCA) by synchrotron radiation

    Energy Technology Data Exchange (ETDEWEB)

    Canellas, Catarine G.L.; Jesus, Edgar F.O. de; Anjos, Marcelino J.; Lopes, Ricardo T., E-mail: catarine@lin.ufrj.b, E-mail: edgar@lin.ufrj.b, E-mail: marcelin@lin.ufrj.b, E-mail: ricardo@lin.ufrj.b [Federal University of Rio de Janeiro (UFRJ), RJ (Brazil). COPPE Technology Center. Nuclear Instrumentation Lab.; Carvalho, Silvia M.F., E-mail: silvia@hemorio.rj.gov.b [State Institute of Hematology Arthur de Siqueira Cavalcanti (HEMORIO), Rio de Janeiro, RJ (Brazil)

    2009-07-01

    The determination of trace elements levels in physiological fluids is of considerable interest in clinical chemistry. Since it has been established these levels in human serum can be utilized as indicators for several pathological conditions, diagnosis and treatment of various diseases. In this work, trace elements were analyzed in serum of patients with sickle cell anemia (SCA) by total reflection X-ray fluorescence using synchrotron radiation (SRTXRF). Sickle cell Anemia is a blood disorder that affects hemoglobin, the protein found in red blood cells that help carry oxygen throughout the body. SCA occurs when a person inherits two abnormal genes (one from each parent) that cause their red blood cells to change shape. These irregular-shaped blood cells die prematurely, resulting in a chronic shortage of red blood cells. We studied forty-three patients (15 males and 28 females) aged 18 to 50 years, suffering SCA and Sixty healthy volunteers (41 males and 19 females) aged 18 to 60 years. All the serum samples had been collected of people who live in the urban area of Rio de Janeiro City/Brazil. The measurements were performed at the X-ray fluorescence beam line at Brazilian National Synchrotron Light Laboratory (LNLS), in Campinas, Sao Paulo using a polychromatic beam. It was possible to determine the concentrations of the following elements: P, S, Cl, K, Ca, Cu, Zn, Br and Rb. (author)

  4. The screening and morbidity pattern of sickle cell anemia in chhattisgarh.

    Science.gov (United States)

    Panigrahi, Sumanta; Patra, P K; Khodiar, P K

    2015-03-01

    Our objective was to find out prevalence of sickle cell anemia among the population of three districts (Kanker, Dantewada and Raigarh) of Chhattisgarh with clinical and hematological profile of sickle cell disease patients. A cross sectional study was done. A total of 15,701 persons collectively from three districts voluntarily attended the mobile camp and were screened for sickle cell anemia. First solubility test were done and were confirmed by Hb electrophoresis. The prevalence of sickle cell trait (HbAS) was 1,672 (10.6 %), sickle cell disease (HbSS) and inconclusive band was 97 (0.66 %). The HbSS and inconclusive band were subjected to HPLC. Among them 12 (0.076 %) cases were double heterozygous for Hb-S and beta thalassemia minor (SB+), 2 (0.012 %) cases were double heterozygous for Hb-S and Hb-E (S/HBE), 1 (0.006 %) case was double heterozygous for Hb-S and Hb-D Punjab (S/HBD) and 22 (0.14 %) cases had Hb-S with Hb-F level more than 20 % (SSF). Maximum number of HbSS cases were 13 (2.29 %) out of 567 children in the age group 0-5 years and HbAS cases were 124 (15.6 %) out of 794 persons in the age group 21-25 years. On comparison between vaso-occlusive and steady state, homozygous patients showed decrease in Hb, HCT, MCH, RBC in vaso-occlusive crises (p < 0.001) than steady state. Also there was one moderate negative correlation in number of blood transfusion (r = 0.46) with fetal hemoglobin (HbF) level. Patients with high HbF can have severe disease. This happens due to uneven distribution of fetal hemoglobin in F-cells with mean HbF remaining constant but in our study, those who had HbF level above 15-20 % were having fewer crises.

  5. Prevalence of High Blood Pressure, Heart Disease, Thalassemia, Sickle-Cell Anemia, and Iron-Deficiency Anemia among the UAE Adolescent Population

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    Caroline Barakat-Haddad

    2013-01-01

    Full Text Available This study examined the prevalence of high blood pressure, heart disease, and medical diagnoses in relation to blood disorders, among 6,329 adolescent students (age 15 to 18 years who reside in the United Arab Emirates (UAE. Findings indicated that the overall prevalence of high blood pressure and heart disease was 1.8% and 1.3%, respectively. Overall, the prevalence for thalassemia, sickle-cell anemia, and iron-deficiency anemia was 0.9%, 1.6%, and 5%, respectively. Bivariate analysis revealed statistically significant differences in the prevalence of high blood pressure among the local and expatriate adolescent population in the Emirate of Sharjah. Similarly, statistically significant differences in the prevalence of iron-deficiency anemia were observed among the local and expatriate population in Abu Dhabi city, the western region of Abu Dhabi, and Al-Ain. Multivariate analysis revealed the following significant predictors of high blood pressure: residing in proximity to industry, nonconventional substance abuse, and age when smoking or exposure to smoking began. Ethnicity was a significant predictor of heart disease, thalassemia, sickle-cell anemia, and iron-deficiency anemia. In addition, predictors of thalassemia included gender (female and participating in physical activity. Participants diagnosed with sickle-cell anemia and iron-deficiency anemia were more likely to experience different physical activities.

  6. Allele-specific enzymatic amplification of. beta. -globin genomic DNA for diagnosis of sickle cell anemia

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    Wu, D.Y.; Ugozzoli, L.; Pal, B.K.; Wallace, B. (Beckman Research Institute of the City of Hope, Duarte, CA (USA))

    1989-04-01

    A rapid nonradioactive approach to the diagnosis of sickle cell anemia is described based on an allele-specific polymerase chain reaction (ASPCR). This method allows direct detection of the normal or the sickle cell {beta}-globin allele in genomic DNA without additional steps of probe hybridization, ligation, or restriction enzyme cleavage. Two allele-specific oligonucleotide primers, one specific for the sickle cell allele and one specific for the normal allele, together with another primer complementary to both alleles were used in the polymerase chain reaction with genomic DNA templates. The allele-specific primers differed from each other in their terminal 3{prime} nucleotide. Under the proper annealing temperature and polymerase chain reaction conditions, these primers only directed amplification on their complementary allele. In a single blind study of DNA samples from 12 individuals, this method correctly and unambiguously allowed for the determination of the genotypes with no false negatives or positives. If ASPCR is able to discriminate all allelic variation (both transition and transversion mutations), this method has the potential to be a powerful approach for genetic disease diagnosis, carrier screening, HLA typing, human gene mapping, forensics, and paternity testing.

  7. Red blood cells, sickle cell (image)

    Science.gov (United States)

    Sickle cell anemia is an inherited blood disease in which the red blood cells produce abnormal pigment (hemoglobin). ... abnormal hemoglobin causes deformity of the red blood cells into crescent or sickle-shapes, as seen in this photomicrograph.

  8. Red blood cells, multiple sickle cells (image)

    Science.gov (United States)

    Sickle cell anemia is an inherited disorder in which abnormal hemoglobin (the red pigment inside red blood cells) is produced. The abnormal hemoglobin causes red blood cells to assume a sickle shape, like the ones seen in this photomicrograph.

  9. Influence of ?S-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia

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    Marília Rocha Laurentino

    2014-04-01

    Full Text Available Background: Sickle cell anemia is a chronic inflammatory disease characterized by an increased production of proinflammatory cytokines including tumor necrosis factor-alpha. Hydroxyurea, by decreasing the polymerization of hemoglobin, reduces inflammatory states. The effect of the genetic polymorphisms of sickle cell patients on tumor necrosis factor-alpha levels remains unknown. Objective: The aim of this study was to investigate the association of tumor necrosis factor-alpha levels with β-globin haplotypes and the use of hydroxyurea. Methods: A cross-sectional study was performed of 67 patients with sickle cell anemia diagnosed at steady-state in a referral hospital in Fortaleza, Ceará, Brazil. A group of 26 healthy individuals was used as control. βS-haplotype analysis was performed by restriction fragment length polymorphism-polymerase chain reaction. The tumor necrosis factor-alpha levels were measured by the enzyme-linked immunosorbent assay test. Laboratory data (complete blood count and fetal hemoglobin and information regarding the use of hydroxyurea were obtained from medical records. Statistical analysis was performed using R software with the Kruskal-Wallis and Mann-Whitney tests. Statistical significance was established for p-values < 0.05 for all analyses. Results: The mean age of the participants was 35.48 years. Patients with sickle cell anemia had significantly higher tumor necrosis factor-alpha levels than controls (p-values < 0.0001. Tumor necrosis factor-alpha levels were lower in sickle cell anemia patients who were receiving hydroxyurea treatment than those who were not (p-value = 0.1249. Sickle cell anemia patients with Bantu/n genotype had significantly higher levels than patients with the Bantu/Benin genotype (p-value = 0.0021. Conclusion: In summary, βS-globin haplotypes, but not hydroxyurea therapy, have a role in modulating tumor necrosis factor-alpha levels in sickle cell anemia adults at steady-state. Many

  10. Cardiovascular effects of hypertransfusion therapy in children with sickle cell anemia.

    Science.gov (United States)

    Lester, L A; Sodt, P C; Hutcheon, N; Arcilla, R A

    1990-07-01

    Thirteen children, age 1.9 to 14.8 years with documented sickle cell disease, underwent echocardiographic assessment of cardiac status while on and off periodic hypertransfusion therapy (HTX). Two to three units of washed packed red blood cells were transfused every 2-4 weeks in children with splenic sequestration crises, cerebrovascular accidents (CVA), aseptic necrosis of the femoral head, and miscellaneous complications of sickle cell disease to maintain hemoglobin (Hgb) concentrations of greater than or equal to 10 g/dl and % sickle hemoglobin (S Hgb) of less than or equal to 20%. This therapy administered over an average duration of 24 months resulted in normalization of left heart chamber enlargement and statistically significant decrease in heart rate, left ventricular mass, and cardiac output. Echocardiographically derived left ventricular function parameters remained normal on and off transfusion therapy. Changes in left ventricular diastolic dimension and cardiac output correlated with changes in % S Hgb (r = 0.59, p less than 0.001; and r = 0.54, p less than 0.001, respectively), and with changes in Hgb concentration (r = -0.78, r = -0.76, p less than 0.001). Expression of left heart abnormalities as a single composite function (Ydv), using multivariate regression analysis, allowed a comparison of cardiac status of 99 normal black controls, nontransfused sickle cell anemia (SCA) patients, and 13 study patients on and off HTX, and permitted serial assessment of cardiac status on and off treatment over 5 years in a single patient.(ABSTRACT TRUNCATED AT 250 WORDS)

  11. Association between morphometric variables and nocturnal desaturation in sickle-cell anemia

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    Cristina Salles

    2014-07-01

    Full Text Available OBJECTIVE: to evaluate associations between morphometric variables, cervical circumference (CC, and abdominal circumference (AC with the presence of nocturnal desaturation in children and adolescents with sickle-cell anemia. METHODS: all patients were submitted to baseline polysomnography, oral cavity measurements (maxillary intermolar distance, mandibular intermolar distance, and overjet, and CC and AC measurements. RESULTS: a total of 85 patients were evaluated. A positive correlation was observed between the height/age Z-score and CC measurement (r = 0.233, p = 0.031. The presence of nocturnal desaturation was associated with CC (59.2± 9.3 vs. 67.5 ± 10.7, p = 0.006 and AC measurements (27.0 ± 2.0 vs. 29.0± 2.1, p = 0.028. There was a negative correlation between desaturation and maxillary intermolar distance (r = -0.365, p = 0.001 and mandibular intermolar distance (r = -0.233, p = 0.037. CONCLUSIONS: the morphometric variables of CC and AC may contribute to raise suspicion of nocturnal desaturation in children and adolescents with sickle-cell anemia.

  12. Caries prevalence and socioeconomic factors in children with sickle cell anemia

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    Ana Cláudia Alves e Luna

    2012-02-01

    Full Text Available The aim of the present study was to investigate caries prevalence and socioeconomic factors in children with sickle cell anemia. This study was conducted in 160 children with sickle cell anemia aged 3 to 12 years attending the Center for Hematology in Recife, Brazil . Data collection included interviews with guardians concerning social factors and oral examinations to determine the caries prevalence. Statistical analyses were performed using the Kruskal-Wallis and Pearson's chi-square tests at a 5% significance level. The caries prevalence was 55.0%. The dmft index was 2.12, and the DMFT index was 1.50. Income significantly influenced dmft; the mean dmft was 4.57 in children whose family income was less than the Brazilian minimum wage (BMW, whereas in children with a family income three times the BMW or higher, the mean dmft was 2.27. No statistically positive association was found between the educational level of parents and guardians and the caries indices. A statistically significant association was found between dental caries prevalence and family income.

  13. Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.

    Science.gov (United States)

    Ngo, Duyen; Bae, Harold; Steinberg, Martin H; Sebastiani, Paola; Solovieff, Nadia; Baldwin, Clinton T; Melista, Efthymia; Safaya, Surinder; Farrer, Lindsay A; Al-Suliman, Ahmed M; Albuali, Waleed H; Al Bagshi, Muneer H; Naserullah, Zaki; Akinsheye, Idowu; Gallagher, Patrick; Luo, Hong-yuan; Chui, David H K; Farrell, John J; Al-Ali, Amein K; Alsultan, Abdulrahman

    2013-06-01

    Sickle cell anemia is common in the Middle East and India where the HbS gene is sometimes associated with the Arab-Indian (AI) β-globin gene (HBB) cluster haplotype. In this haplotype of sickle cell anemia, fetal hemoglobin (HbF) levels are 3-4 fold higher than those found in patients with HbS haplotypes of African origin. Little is known about the genetic elements that modulate HbF in AI haplotype patients. We therefore studied Saudi HbS homozygotes with the AI haplotype (mean HbF 19.2±7.0%, range 3.6 to 39.6%) and employed targeted genotyping of polymorphic sites to explore cis- and trans- acting elements associated with high HbF expression. We also described sequences which appear to be unique to the AI haplotype for which future functional studies are needed to further define their role in HbF modulation. All cases, regardless of HbF concentration, were homozygous for AI haplotype-specific elements cis to HBB. SNPs in BCL11A and HBS1L-MYB that were associated with HbF in other populations explained only 8.8% of the variation in HbF. KLF1 polymorphisms associated previously with high HbF were not present in the 44 patients tested. More than 90% of the HbF variance in sickle cell patients with the AI haplotype remains unexplained by the genetic loci that we studied. The dispersion of HbF levels among AI haplotype patients suggests that other genetic elements modulate the effects of the known cis- and trans-acting regulators. These regulatory elements, which remain to be discovered, might be specific in the Saudi and some other populations where HbF levels are especially high.

  14. Hematological and hemorheological determinants of the six-minute walk test performance in children with sickle cell anemia.

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    Xavier Waltz

    Full Text Available The six-minute walk test is a well-established submaximal exercise reflecting the functional status and the clinical severity of sickle cell patients. The aim of the present cross-sectional study was to investigate the biological determinants of the six-minute walk test performance in children with sickle cell anemia. Hematological and hemorheological parameters, pulmonary function and the six-minute walk test performance were determined in 42 children with sickle cell anemia at steady state. The performance during the six-minute walk test was normalized for age, sex and height and expressed as percentage of the predicted six-minute walk distance. We showed that a high level of anemia, a low fetal hemoglobin expression and low red blood cell deformability were independent predictors of a low six-minute walk test performance. This study describes for the first time the impact of blood rheology in the six-minute walk test performance in children with sickle cell anemia.

  15. Translocation Renal Cell Carcinoma t(6;11)(p21;q12) and Sickle Cell Anemia: First Report and Review of the Literature.

    Science.gov (United States)

    Chaste, Damien; Vian, Emmanuel; Verhoest, Gregory; Blanchet, Pascal

    2014-02-01

    Translocation renal cell carcinoma (RCC) is a family of rare tumors recently identified in the pediatric and young adult population. We report the first case of a young woman from French West Indies with sickle cell anemia who developed a translocation RCC t(6;11)(p21;q12). Usually people with the sickle cell condition are known to develop renal medullary carcinoma (RMC). To our knowledge, this is the first case described in the literature of a translocation RCC associated with sickle cell disease. Here we discuss the relation between translocation RCC, RMC, and sickle cell disease.

  16. Anemia Due to Excessive Bleeding

    Science.gov (United States)

    ... Anemia Vitamin Deficiency Anemia Anemia of Chronic Disease Aplastic Anemia Autoimmune Hemolytic Anemia Sickle Cell Disease Hemoglobin C, S- ... Anemia Vitamin Deficiency Anemia Anemia of Chronic Disease Aplastic Anemia Autoimmune Hemolytic Anemia Sickle Cell Disease Hemoglobin C, S- ...

  17. "Sickle Cell Anemia: Tracking down a Mutation": An Interactive Learning Laboratory That Communicates Basic Principles of Genetics and Cellular Biology

    Science.gov (United States)

    Jarrett, Kevin; Williams, Mary; Horn, Spencer; Radford, David; Wyss, J. Michael

    2016-01-01

    "Sickle cell anemia: tracking down a mutation" is a full-day, inquiry-based, biology experience for high school students enrolled in genetics or advanced biology courses. In the experience, students use restriction endonuclease digestion, cellulose acetate gel electrophoresis, and microscopy to discover which of three putative patients…

  18. Using the History of Research on Sickle Cell Anemia to Affect Preservice Teachers' Conceptions of the Nature of Science.

    Science.gov (United States)

    Howe, Eric M.

    This paper examines how using a series of lessons developed from the history of research on sickle cell anemia affects preservice teacher conceptions of the nature of science (NOS). The importance of a pedagogy that has students do science through an integral use of the history of science is effective at enriching students' NOS views is presented.…

  19. Cholecystectomy in sickle cell anemia patients : Perioperative outcome of 364 cases from the national preoperative transfusion study

    NARCIS (Netherlands)

    Haberkern, CM; Neumayr, LD; Orringer, EP; Earles, AN; Robertson, SM; Abboud, MR; Koshy, M; Idowu, O; Vichinsky, EP; Black, D.

    1997-01-01

    Cholecystectomy is the most common surgical procedure performed in sickle cell anemia (SCA) patients. We investigated the effects of transfusion and surgical method on perioperative outcome. A total of 364 patients underwent cholecystectomy: group 1 (randomized to aggressive transfusion) 110 patient

  20. Inter-ethnic polymorphism of the beta-globin gene locus control region (LCR) in sickle-cell anemia patients.

    Science.gov (United States)

    Périchon, B; Ragusa, A; Lapouméroulie, C; Romand, A; Moi, P; Ikuta, T; Labie, D; Elion, J; Krishnamoorthy, R

    1993-06-01

    Sequence polymorphisms within the 5'HS2 segment of human locus control region is described among sickle cell anemia patients. Distinct polymorphic patterns of a simple sequence repeat are observed in strong linkage disequilibrium with each of the five major beta s haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.

  1. Apneia obstrutiva do sono em portadores da anemia falciforme Obstructive sleep apnea in sickle cell disease carriers

    Directory of Open Access Journals (Sweden)

    Cristina Salles

    2010-02-01

    Full Text Available A Síndrome da Apneia Obstrutiva do Sono (SAOS é definida como episódios recorrentes de obstrução completa ou parcial das vias aéreas superiores que ocorrem durante o sono. O fluxo aéreo pode estar diminuído ou completamente interrompido, a despeito do esforço inspiratório, resultando em episódios intermitentes de hipoxemia, hipercapnia. A presença de SAOS poderá ser um fator de piora da hipoxemia noturna, da doença de base, concorrendo para ocorrência de síndrome torácica aguda. Com o objetivo de revisar dados sobre a fisiopatologia da SAOS em crianças e adolescentes portadores de anemia falciforme, foi realizada busca eletrônica de artigos no Medline e Lilacs nos últimos dez anos, bem como referências cruzadas dos artigos encontrados. Palavras-chaves: "sleep apnea, sickle cell anemia, sickle cell disease, pathophysiology ". Estudos sugerem que a SAOS pode potencializar o quadro clínico, ou seja, as crises álgicas, déficit de estatura, de peso, cognitivo e de inteligência, dessaturação arterial noturna, e acidente vascular cerebral das crianças portadoras de anemia falciforme. Rev. Bras. Hematol. Hemoter.Obstructive Sleep Apnea Syndrome (OSAS is defined as recurrent episodes of complete or partial obstruction of the upper airway during sleep. The airflow can be reduced or completely stopped despite of inspiratory effort, resulting in intermittent episodes of hypoxemia and hypercapnia. OSAS may be a factor in the worsening of nocturnal hypoxemia, of the underlying disease, leading to acute chest syndrome. The aim of this work was to review data on the pathophysiology of OSAS in children and adolescents with sickle cell anemia. We revisited articles published over the last ten years linked to the Medline and Lilacs databases, as well as cross-referencing using these articles. The following keywords were used: sleep apnea, obstructive sleep apnea, sickle cell anemia, sickle cell disease. Studies suggest that OSAS may

  2. Severe neurologic complication after delayed hemolytic transfusion reaction in 2 children with sickle cell anemia: significant diagnosis and therapeutic challenges.

    Science.gov (United States)

    Elenga, Narcisse; Mialou, Valérie; Kebaïli, Kamila; Galambrun, Claire; Bertrand, Yves; Pondarre, Corinne

    2008-12-01

    Although delayed hemolytic transfusion reaction (DHTR) has been widely recognized as a serious complication of red blood cell transfusion in patients with sickle cell disease (SCD), there is no consensus on its optimal management. Discontinuation of transfusion is recommended, whereas corticosteroids and immunoglobulins are considered to be beneficial. We report 2 children with sickle cell anemia who were diagnosed with DHTR and experienced a subsequent neurologic event in the course of treatment with corticosteroids. The role of corticosteroids as possible precipitating factors of neurologic complications is discussed. Pending a better understanding of the chain of events of DHTR, SCD children with DHTR should receive steroids with great caution.

  3. Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B.

    Science.gov (United States)

    Nolan, Vikki G; Ma, Qianli; Cohen, Herbert T; Adewoye, Adeboye; Rybicki, Anne C; Baldwin, Clinton; Mahabir, Rhea N; Homan, Erica P; Wyszynski, Diego F; Fabry, Mary E; Nagel, Ronald L; Farrer, Lindsay A; Steinberg, Martin H

    2007-03-01

    Renal disease is common in sickle cell anemia. In this exploratory work, we used data from a longitudinal study of the natural history of sickle cell disease to examine the hypothesis that polymorphisms (SNPs) in selected candidate genes are associated with glomerular filtration rate (GFR). DNA samples and clinical and laboratory data were available for 1,140 patients with sickle cell anemia. GFR was estimated using the Cockcroft-Gault and Schwartz formulas for adults and children, respectively. We examined approximately 175 haplotype tagging (ht) SNPs in about 70 genes of the TGFbeta/BMP pathway for their association with GFR using linear regression. Four SNPs in BMPR1B, a bone morphogenetic protein (BMP) receptor gene, yielded statistically significant associations (P values ranging from 0.015 to 0.046). Three haplotypes in this gene were also associated with GFR. The TGF-beta/BMP pathway has been associated with the development of diabetic nephropathy, which has some features in common with sickle cell nephropathy. Our results suggest that, as with other subphenotypes of sickle cell disease, renal function may be genetically modulated.

  4. Anemia falciforme e infecções Sickle cell disease and infection

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    Dayana V. P. Di Nuzzo

    2004-01-01

    Full Text Available OBJETIVO: A alta prevalência de anemia falciforme em nosso meio e a elevada morbimortalidade por infecções associada a esta condição estimularam a realização deste artigo de revisão. FONTE DE DADOS: Realizamos uma revisão bibliográfica no banco de dados MEDLINE no período de 1986 até 2003. Foram encontradas cerca de 600 referências sobre o tema, sendo selecionados 35 artigos, os quais, aliados a capítulos de dois livros-textos, compuseram esta revisão. SÍNTESE DOS DADOS: Neste artigo, além de informações gerais a respeito da doença falciforme, são abordados alguns tópicos sobre as infecções mais freqüentemente observadas no paciente com anemia falciforme, assim como a profilaxia medicamentosa e imunizações disponíveis. CONCLUSÕES: Esta é uma revisão que visa fornecer à comunidade pediátrica informações sobre o binômio anemia falciforme e infecções, a fim de minimizar suas complicações nesta comunidade específica.OBJECTIVE: To discuss the high prevalence of sickle cell disease in our environment and the increased morbidity and mortality as a result of infection associated with this condition. SOURCES OF DATA: Review of MEDLINE from 1986 to 2003. We found around 600 references about the subject. Thirty-five journal articles were reviewed, in addition to chapters in two text books. SUMMARY OF THE FINDINGS: We discuss general information concerning sickle cell disease as well as a few topics about the most frequently observed infections in these patients. Drug prophylaxis and immunizations are also covered. CONCLUSIONS: This review hopes to provide the pediatric community with information concerning the association between sickle cell disease and infections, so as to minimize the occurrence of complications.

  5. Phase 1 study of the E-selectin inhibitor GMI 1070 in patients with sickle cell anemia.

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    Ted Wun

    Full Text Available BACKGROUND: Sickle cell anemia is an inherited disorder of hemoglobin that leads to a variety of acute and chronic complications. Abnormal cellular adhesion, mediated in part by selectins, has been implicated in the pathophysiology of the vaso-occlusion seen in sickle cell anemia, and selectin inhibition was able to restore blood flow in a mouse model of sickle cell disease. METHODS: We performed a Phase 1 study of the selectin inhibitor GMI 1070 in patients with sickle cell anemia. Fifteen patients who were clinically stable received GMI 1070 in two infusions. RESULTS: The drug was well tolerated without significant adverse events. There was a modest increase in total peripheral white blood cell count without clinical symptoms. Plasma concentrations were well-described by a two-compartment model with an elimination T1/2 of 7.7 hours and CLr of 19.6 mL/hour/kg. Computer-assisted intravital microscopy showed transient increases in red blood cell velocity in 3 of the 4 patients studied. CONCLUSIONS: GMI 1070 was safe in stable patients with sickle cell anemia, and there was suggestion of increased blood flow in a subset of patients. At some time points between 4 and 48 hours after treatment with GMI 1070, there were significant decreases in biomarkers of endothelial activation (sE-selectin, sP-selectin, sICAM, leukocyte activation (MAC-1, LFA-1, PM aggregates and the coagulation cascade (tissue factor, thrombin-antithrombin complexes. Development of GMI 1070 for the treatment of acute vaso-occlusive crisis is ongoing. TRIAL REGISTRATION: ClinicalTrials.gov NCT00911495.

  6. Chronic hyper-hemolysis in sickle cell anemia: association of vascular complications and mortality with less frequent vasoocclusive pain.

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    James G Taylor

    Full Text Available BACKGROUND: Intravascular hemolysis in sickle cell anemia could contribute to complications associated with nitric oxide deficiency, advancing age, and increased mortality. We have previously reported that intense hemolysis is associated with increased risk of vascular complications in a small cohort of adults with sickle cell disease. These observations have not been validated in other populations. METHODS: The distribution of serum lactic dehydrogenase (LDH values was used as a surrogate measure of intravascular hemolysis in a contemporaneous patient group and an historical adult population from the Cooperative Study of Sickle Cell Disease (CSSCD, all with sickle cell anemia. Chronic hyper-hemolysis was defined by the top LDH quartile and was compared to the lowest LDH quartile. RESULTS: Hyper-hemolysis subjects had higher systolic blood pressure, higher prevalence of leg ulcers (OR 3.27, 95% CI 1.92-5.53, P<0.0001, priapism (OR 2.62, 95% CI 1.13-6.90, P = 0.03 and pulmonary hypertension (OR 4.32, 95% CI 2.12-8.60, P<0.0001, while osteonecrosis (OR 0.32, 95% CI 0.19-0.54, P<0.0001 and pain (OR 0.23, 95% CI 0.09-0.55, P = 0.0004 were less prevalent. Hyper-hemolysis was influenced by fetal hemoglobin and alpha thalassemia, and was a risk factor for early death in the CSSCD population (Hazard Ratio = 1.97, P = 0.02. CONCLUSIONS: Steady state LDH measurements can identify a chronic hyper-hemolysis phenotype which includes less frequent vasooclusive pain and earlier mortality. Clinicians should consider sickle cell specific therapies for these patients, as is done for those with more frequent acute pain. The findings also suggest that an important class of disease modifiers in sickle cell anemia affect the rate of hemolysis.

  7. Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the betaS/Benin haplotype.

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    Patrinos, George P; Samperi, Piera; Lo Nigro, Luca; Kollia, Panagoula; Schiliro, Gino; Papadakis, Manoussos N

    2005-09-01

    There are at least four distinct African and one Asian chromosomal backgrounds (haplotypes) on which the sickle cell mutation has arisen. Additionally, previous data suggest that the beta(S)/Bantu haplotype is heterogeneous at the molecular level. Here, we report the presence of the (A)gamma -499 T-->A variation in sickle cell anemia chromosomes of Sicilian and North African origin bearing the beta(S)/Benin haplotype. Being absent from North American beta(S)/Benin chromosomes, which were studied previously, this variation is indicative for the molecular heterogeneity of the beta(S)/Benin haplotype.

  8. Hemorheological alterations in sickle cell anemia and their clinical consequences - The role of genetic modulators.

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    Silva, Marisa; Vargas, Sofia; Coelho, Andreia; Dias, Alexandra; Ferreira, Teresa; Morais, Anabela; Maia, Raquel; Kjöllerström, Paula; Lavinha, João; Faustino, Paula

    2016-01-01

    Sickle cell anemia (SCA) is an autosomal recessive disease caused by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis. The disease presents with high clinical heterogeneity characterized by chronic hemolysis, recurrent episodes of vaso-oclusion and infection. This work aimed to characterize by in silico studies some genetic modulators of severe hemolysis and stroke risk in children with SCA, and understand their consequences at the hemorheological level.Association studies were performed between hemolysis biomarkers as well as the degree of cerebral vasculopathy and the inheritance of several polymorphic regions in genes related with vascular cell adhesion and vascular tonus in pediatric SCA patients. In silico tools (e.g. MatInspector) were applied to investigate the main variant consequences.Variants in vascular adhesion molecule-1 (VCAM1) gene promoter and endothelial nitric oxide synthase (NOS3) gene were significantly associated with higher degree of hemolysis and stroke events. They potentially modify transcription factor binding sites (e.g. VCAM1 rs1409419_T allele may lead to an EVI1 gain) or disturb the corresponding protein structure/function. Our findings emphasize the relevance of genetic variation in modulating the disease severity due to their effect on gene expression or modification of protein biological activities related with sickled erythrocyte/endothelial interactions and consequent hemorheological abnormalities.

  9. Doppler-Defined Pulmonary Hypertension in Sickle Cell Anemia in Kurdistan, Iraq.

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    Al-Allawi, Nasir; Mohammad, Ameen M; Jamal, Shakir

    2016-01-01

    To determine the frequency, clinical and laboratory associations of pulmonary hypertension in Iraqi Kurds with sickle cell anemia, a total of ninety four such patients attending a major hemoglobinopathy center in Iraqi Kurdistan were enrolled. All patients were re-evaluated clinically and had their blood counts, HbF, serum ferritin, LDH, renal and liver function assessed. Transthoracic Doppler echocardiography with measurement of tricuspid valve regurgitant jet velocity (TRV) was performed. A TRV in excess of 2.8 m/s was considered for the purposes of this study as indicative of pulmonary hypertension (PH). The prevalence of TRV in excess of 2.8m/s was 10.6%. By univariate analysis: significantly higher reticulocyte count, more frequent blood transfusions and pain episodes were encountered in the PH group as compared to the non-PH group (p = 0.001, 0.045 and 0.02 respectively). Moreover, PH patients had significantly higher mean right atrial area, left atrial size, E wave/A wave ratio and ejection fraction by echocardiography (p = 0.027, 0.037, <0.001 and 0.008 respectively). Except for reticulocyte count none of the other parameters remained significant by multivariate analysis (p = 0.024). In conclusion the current study revealed that pulmonary hypertension is rather frequent among Iraqi Kurds with sickle cell anemia, and identified reticulocyte count as an independently associated parameter with PH in this population. Future prospective studies including right heart catheterization and appropriate medical intervention are warranted.

  10. [The significance of sickle cell anemia within the context of the Brazilian government's 'racial policies' (1995-2004)].

    Science.gov (United States)

    Fry, Peter H

    2005-01-01

    This essay reflects on the social significance of growing interest in sickle cell anemia and other illnesses associated with the black body in Brazil. I explore the discursive network that has taken shape around the disease within the social context of its production. I first summarize anthropologist Melbourne Tapper's analysis of the United States program to fight sickle cell anemia in the 1970s, shortly after blacks attained victories in the civil rights movement. Tapper (1999) argues that one of the consequences of this policy was the creation of a responsible black citizenry. In the late 1990s, the Brazilian government developed a program (Programa de Anemia Falciforme) that counted on the heavy participation of black activists and that also contributed to the formation of a "responsible black community". My argument is that sickle cell anemia becomes much more than an illness to be eradicated. The discourse surrounding it is a powerful element in the process of naturalization of the "black race" (and, by logical and political complement, the "white race") in a country that until recently imagined itself a biologically and culturally hybrid nation.

  11. Doppler echocardiographic study in adolescents and young adults with sickle cell anemia

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    Wolney de Andrade Martins

    1999-12-01

    Full Text Available OBJECTIVE: Anatomical and functional assessment of the heart through Doppler and echocardiography in patients with cell anemia (SCA. METHODS: Twenty-five patients with SCA and ages ranging from 14 to 45 years were prospectively studied in a comparison with 25 healthy volunteers. All of them underwent clinical and laboratory evaluation and Doppler echocardiography as well.The measurements were converted into body surface indices. RESULTS: There were increases in all chamber diameters and left ventricle (LV mass of the SCA patients. It was characterised an eccentric hypertrophy of the left ventricle. The preload was increased (left ventricle end-diastolic volume and the afterload was decreased (diastolic blood pressure, peripheral vascular resistance and end-systolic parietal stress ESPS. The cardiac index was increased due to the stroke volume. The ejection fraction and the percentage of the systolic shortening , as well as the systolic time intervals of the LV were equivalent. The isovolumetric contraction period of the LV was increased. The mitral E-septum distance and the end-systolic volume index (ESVi were increased. The ESPS/ESVi ratio,a loading independent parameter, was decreased in SCA, suggesting systolic dysfunction. No significant differences in the diastolic function or in the pulmonary pressure occurred. CONCLUSION: Chamber dilations, eccentric hypertrophy and systolic dysfunction confirm the evidence of the literature in characterizing a sickle cell anemia cardiomyopathy.

  12. Management of painful vaso-occlusive crisis of sickle-cell anemia: consensus opinion.

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    Mousa, Shaker A; Al Momen, Abbdulkareem; Al Sayegh, Faisal; Al Jaouni, Soad; Nasrullah, Zaki; Al Saeed, Hussein; Alabdullatif, Abbas; Al Sayegh, Mohamad; Al Zahrani, Hazaa; Hegazi, Maha; Al Mohamadi, Amin; Alsulaiman, A; Omer, Awad; Al Kindi, Salam; Tarawa, Ahamd; Al Othman, Fahad; Qari, Mohammad

    2010-08-01

    Sickle-cell disease (SCD) is a wide-spread inherited hemolytic anemia that is due to a point mutation, leading to the substitution of valine for glutamic acid, causing a spectrum of clinical manifestations in addition to hemolysis and anemia. Acute painful crisis is a common sequela that can cause significant morbidity and negatively impact the patient's quality of life. Remarkable improvements in the understanding of the pathogenesis of this clinical syndrome and the role of cell adhesion, inflammation, and coagulation in acute painful crisis have led to changes in the management of pain. Due to the endemic nature of SCD in various parts of the Middle East, a group of physicians and scientists from the United States and Middle East recently met to draw up a set of suggested guidelines for the management of acute painful crisis that are reflective of local and international experience. This review brings together a detailed etiology, the pathophysiology, and clinical presentation of SCD, including the differential diagnoses of pain associated with the disease, with evidence-based recommendations for pain management and the potential impact of low-molecular-weight heparin (LMWH), from the perspective of physicians and scientists with long-term experience in the management of a large number of patients with SCD.

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

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    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.

  14. Radiological abnormalities of the skeleton in patients with sickle-cell anemia. A study of 222 cases in Tunisia

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    Ben Dridi, M.F.; Oumaya, A.; Gastli, H.; Doggaz, C.; Bousnina, S.; Fattoum, S.; Ben Osman, R.; Gharbi, H.A.

    1987-05-01

    The way in which bones are affected in cases of sickle-cell anemia is well known. Nevertheless, advances in treatment and in methods of transfusion mean that we are increasingly seeing cases of older patients with this disease. A retrospective analysis of 222 cases of sickle-cell anemia demonstrates the radiological appearance of the skeleton in the disease and reveals the various bone segments which are particularly vulnerable at certain periods of life. Correlation of X-rays permits the discovery of lesions which are not clinically apparent. The frequency and characteristics of epiphyseal osteonecrosis and osteitis are studied. Aggravation of the bone lesions when corticoids are administered poses the problem of differential diagnosis of the disease, especially in comparison with rheumatic fever.

  15. Coping with sickle cell anemia in Nigerian universities: the case of Obafemi Awolowo University, Ile-Ife, Nigeria.

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    Okumdi, Muoghalu Caroline; Victor, Ajayi Oladele

    2013-01-01

    This study examined coping strategies of students living with sickle cell anemia. In-depth interviews were conducted on 10 students living with sickle cell anemia and eight were conducted on the health workers. To explain the sufferers view and experience, interpretative phenomenology approach was employed. Findings were that sufferers experience much pain and crisis. Their coping strategies include having plenty of rest and water, avoiding strenuous activities and taking their medications. They had a good knowledge of the disease but faced the challenges of combining caring for themselves and academic pursuit which create problems of adherence and finance for buying drugs and sponsoring their education at the same time. In conclusion, sufferers were coping well but there was still a need to address the problems of harsh university environment, finance and adherence.

  16. Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients.

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    Tite Minga Mikobi

    Full Text Available Sickle cell anemia is an inflammatory disease and is characterized by chronic hemolysis. We sought to evaluate the association of lactate dehydrogenase levels with specific clinical phenotypes and laboratory variables in patients with sickle cell anemia.The present cross-sectional study was conducted in Sickle Cell Centre of Yolo in Kinshasa, the Democratic Republic of Congo. Two hundred and eleven patients with Sickle Cell Anemia in steady state were recruited. Seventy-four participants with normal Hb (Hb-AA were selected as a control group.The average rates of hemoglobin, hematocrit, and red blood cells tended to be significantly lower in subjects with Hb-SS (p<0.001. The average rates of white blood cells, platelets, reticulocytes and serum LDH were significantly higher in subjects with Hb-SS (p<0.001. The average rates of Hb, HbF, hematocrit and red blood cells of Hb-SS patients with asymptomatic clinical phenotype were significantly higher than those of the two other phenotypes. However, the average rates of white blood cells, platelets, reticulocytes, and LDH of Hb-SS patients with the severe clinical phenotype are higher than those of two other clinical phenotypes. Significant correlations were observed between Hb and white blood cell in severe clinical phenotype (r3 = -0.37 * between Hb and red blood cells in the three phenotypes (r1 = 0.69 * r2 * = 0.69, r3 = 0.83 *, and finally between Hb and reticulocytes in the asymptomatic clinical phenotype and severe clinical phenotype (r1 = -0.50 * r3 = 0.45 *. A significant increase in LDH was observed in patients with leg ulcer, cholelithiasis and aseptic necrosis of the femoral head.The increase in serum LDH is accompanied by changes in hematological parameters. In our midst, serum LDH may be considered as an indicator of the severity of the disease.

  17. Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients

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    Mikobi, Tite Minga; Lukusa Tshilobo, Prosper; Aloni, Michel Ntetani; Mvumbi Lelo, Georges; Akilimali, Pierre Zalagile; Muyembe-Tamfum, Jean Jacques; Race, Valérie; Matthijs, Gert; Mbuyi Mwamba, Jean Marie

    2015-01-01

    Background Sickle cell anemia is an inflammatory disease and is characterized by chronic hemolysis. We sought to evaluate the association of lactate dehydrogenase levels with specific clinical phenotypes and laboratory variables in patients with sickle cell anemia. Methods The present cross-sectional study was conducted in Sickle Cell Centre of Yolo in Kinshasa, the Democratic Republic of Congo. Two hundred and eleven patients with Sickle Cell Anemia in steady state were recruited. Seventy-four participants with normal Hb (Hb-AA) were selected as a control group. Results The average rates of hemoglobin, hematocrit, and red blood cells tended to be significantly lower in subjects with Hb-SS (p<0.001). The average rates of white blood cells, platelets, reticulocytes and serum LDH were significantly higher in subjects with Hb-SS (p<0.001). The average rates of Hb, HbF, hematocrit and red blood cells of Hb-SS patients with asymptomatic clinical phenotype were significantly higher than those of the two other phenotypes. However, the average rates of white blood cells, platelets, reticulocytes, and LDH of Hb-SS patients with the severe clinical phenotype are higher than those of two other clinical phenotypes. Significant correlations were observed between Hb and white blood cell in severe clinical phenotype (r3 = -0.37 *) between Hb and red blood cells in the three phenotypes (r1 = 0.69 * r2 * = 0.69, r3 = 0.83 *), and finally between Hb and reticulocytes in the asymptomatic clinical phenotype and severe clinical phenotype (r1 = -0.50 * r3 = 0.45 *). A significant increase in LDH was observed in patients with leg ulcer, cholelithiasis and aseptic necrosis of the femoral head. Conclusion The increase in serum LDH is accompanied by changes in hematological parameters. In our midst, serum LDH may be considered as an indicator of the severity of the disease. PMID:25946088

  18. Risk Factors of Pulmonary Hypertension in Brazilian Patients with Sickle Cell Anemia.

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    Clarisse Lopes de Castro Lobo

    Full Text Available This study was a prospective cross-sectional cohort study of 125 patients with sickle cell anemia (SS between the ages of 16 to 60 years. Enrolled patients were followed-up prospectively for 15 months. Demographic, clinical, hematological and routine biochemical data were obtained on all patients. Six-minute walk test and Doppler Echocardiography were performed on all patients. A tricuspid regurgitant jet velocity (TRJV 3.0 m/sec, severe. Patients with abnormal TRJV were significantly older and more anemic, had significantly higher lactate dehydrogenase (LDH levels, reticulocyte count and incidence of death. The logistic multimodal model implemented for the 125 patients indicated that age was the covariate that influenced the outcome of normal or abnormal TRJV with a cutoff age of thirty-two years. The survival rate for the group of patients with creatinine (Cr > 1.0 mg/dL was lower than the group with Cr ≤ 1 and normal TRJV. A coefficient matrix showed that the LDH values were weakly correlated with the reticulocyte count but strongly correlated with hemoglobin suggesting that the TRJV values were not correlated with the hemolytic rate but with anemia. Ten patients died during the follow-up of whom 7 had TRJV > 2.5 m/sec. Acute chest syndrome was the most common cause of death followed by sepsis. In conclusion, this study shows that patients with SS older than thirty-two years with high LDH, elevated TRJV, severe anemia and Cr > 1 have poor prognosis and may be at risk of having pulmonary hypertension and should undergo RHC.

  19. Sickle Cell Research: Yesterday, Today, and Tomorrow | NIH MedlinePlus the Magazine

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    ... this page please turn Javascript on. Special Section: Sickle Cell Disease Sickle Cell Research: Yesterday, Today, and Tomorrow Past Issues / Winter ... hemolytic" (destruction of red cells) anemia. What Causes Sickle Cell Disease? Sickle cell disease is inherited. Hemoglobin, the ...

  20. Intestine-specific Disruption of Hypoxia-inducible Factor (HIF)-2α Improves Anemia in Sickle Cell Disease.

    Science.gov (United States)

    Das, Nupur; Xie, Liwei; Ramakrishnan, Sadeesh K; Campbell, Andrew; Rivella, Stefano; Shah, Yatrik M

    2015-09-25

    Sickle cell disease (SCD) is caused by genetic defects in the β-globin chain. SCD is a frequently inherited blood disorder, and sickle cell anemia is a common type of hemoglobinopathy. During anemia, the hypoxic response via the transcription factor hypoxia-inducible factor (HIF)-2α is highly activated in the intestine and is essential in iron absorption. Intestinal disruption of HIF-2α protects against tissue iron accumulation in iron overload anemias. However, the role of intestinal HIF-2α in regulating anemia in SCD is currently not known. Here we show that in mouse models of SCD, disruption of intestinal HIF-2α significantly decreased tissue iron accumulation. This was attributed to a decrease in intestinal iron absorptive genes, which were highly induced in a mouse model of SCD. Interestingly, disruption of intestinal HIF-2α led to a robust improvement in anemia with an increase in RBC, hemoglobin, and hematocrit. This was attributed to improvement in RBC survival, hemolysis, and insufficient erythropoiesis, which is evident from a significant decrease in serum bilirubin, reticulocyte counts, and serum erythropoietin following intestinal HIF-2α disruption. These data suggest that targeting intestinal HIF-2α has a significant therapeutic potential in SCD pathophysiology.

  1. Intestine-specific Disruption of Hypoxia-inducible Factor (HIF)-2α Improves Anemia in Sickle Cell Disease*

    Science.gov (United States)

    Das, Nupur; Xie, Liwei; Ramakrishnan, Sadeesh K.; Campbell, Andrew; Rivella, Stefano; Shah, Yatrik M.

    2015-01-01

    Sickle cell disease (SCD) is caused by genetic defects in the β-globin chain. SCD is a frequently inherited blood disorder, and sickle cell anemia is a common type of hemoglobinopathy. During anemia, the hypoxic response via the transcription factor hypoxia-inducible factor (HIF)-2α is highly activated in the intestine and is essential in iron absorption. Intestinal disruption of HIF-2α protects against tissue iron accumulation in iron overload anemias. However, the role of intestinal HIF-2α in regulating anemia in SCD is currently not known. Here we show that in mouse models of SCD, disruption of intestinal HIF-2α significantly decreased tissue iron accumulation. This was attributed to a decrease in intestinal iron absorptive genes, which were highly induced in a mouse model of SCD. Interestingly, disruption of intestinal HIF-2α led to a robust improvement in anemia with an increase in RBC, hemoglobin, and hematocrit. This was attributed to improvement in RBC survival, hemolysis, and insufficient erythropoiesis, which is evident from a significant decrease in serum bilirubin, reticulocyte counts, and serum erythropoietin following intestinal HIF-2α disruption. These data suggest that targeting intestinal HIF-2α has a significant therapeutic potential in SCD pathophysiology. PMID:26296885

  2. Evaluation of microalbuminuria in relation to asymptomatic bacteruria in Nigerian patients with sickle cell anemia

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    B A Iwalokun

    2012-01-01

    Full Text Available Studies have identified microalbuminuria (MA and asymptomatic bacteruria (ASB as co-morbid factors in sickle cell anemia (SCA. However, the relationship between these comorbid factors remains unclear and data are lacking for Nigerian patients. This study determined the prevalence of MA and ASB in a cohort of patients with SCA in a steady state, in Lagos, Nigeria. Early morning mid-stream urine samples were collected in sterile bottles from 103 patients comprising 48 males and 55 females with a mean age of 10.4 years. Aerobic culture and colony count of organisms was done using conventional methods. Serum creatinine and hematological indices, including irreversibly sickled cells (ISC, were also assayed. Of the 103 urine samples screened, 23 (22.3% had albuminuria (ALB, and consisted of nine males and 14 females (P > 0.05; 16.5% of the cases had MA (P 0.05. The prevalence of confirmed ASB was 14.6%, with females accounting for 14 of 19 probable ASB cases (P <0.05. Univariate regression analysis demonstrated a significant (P <0.05 association between age at onset of MA, hemoglobin level, reticulocyte count, ISC and occurrence of ASB, but with only ISC evolving as an independent predictor. Twenty-eight bacterial isolates predominated by Escherichia coli (39.3%; P <0.05, of whom 89.3% were multi-drug resistant, were recovered from the ASB urine samples. In conclusion, both MA and ASB are common in Nigerian SCA patients, with the former occurring from the first decade of life.

  3. Molecular characterization of sickle cell anemia in the Northern Brazilian state of Pará.

    Science.gov (United States)

    De Lemos Cardoso, Greice; Guerreiro, João Farias

    2010-01-01

    To assess alpha+-thalassemia deletion alleles, beta-thalassemia mutations and haplotypes linked to the HBB*S cluster in a sample of 130 unrelated sickle cell anemia (SCA) patients (55% female) from Belém, Pará State, for their possible effects on the patients' survival. -alpha(3.7), -alpha(42), -alpha(20.5), and -(MED) alpha+-thalassemia deletion alleles were investigated using multiplex gap-PCR method. Characterization of beta-thalassemia mutations was made by direct genomic sequencing of the beta-globin gene amplified through polymerase chain reaction (PCR). Haplotypes were determined by analysis of six polymorphic restriction sites [(1) XmnI-5'gammaG, (2) HindIII-gammaG, (3) HindIII-gammaA, (4) HincII-psibeta, (5) HincII-3'psibeta, and (6) HinfI-5'beta] followed by restriction digestion and agarose gel electrophoresis. Twenty-one patients (16%) presented -alpha3.7 thalassemia. Sixteen of those (76%) were heterozygous (-alpha3.7/alphaalpha) and 5 (24%) were homozygous (-alpha3.7/-alpha3.7). -Alpha(4.2), -alpha(20.5) and -(MED) deletions were not found. Nine cases of sickle cell-beta thalassemia were found and four different beta-thal mutations were identified: beta(+) -88 (C>T), 3.8%; beta(+) codon 24 (T > A), 1.5%; beta(+) IVSI-110 (G > A), 0.7% and beta (IVSI-1 (G > A), 0.7%. No differences according to age were observed in -alpha(3.7) deletion, beta-thalassemia and HHB*S haplotypes distribution. Our results suggest that although alpha- and beta-thalassemia and betaS haplotypes may have modulating effect on clinical expression and hematological parameters of SCA, these genetic variables probably have little influence on the subjects' survival.

  4. A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia.

    Science.gov (United States)

    Vathipadiekal, Vinod; Farrell, John J; Wang, Shuai; Edward, Heather L; Shappell, Heather; Al-Rubaish, A M; Al-Muhanna, Fahad; Naserullah, Z; Alsuliman, A; Qutub, Hatem Othman; Simkin, Irene; Farrer, Lindsay A; Jiang, Zhihua; Luo, Hong-Yuan; Huang, Shengwen; Mostoslavsky, Gustavo; Murphy, George J; Patra, Pradeep K; Chui, David H K; Alsultan, Abdulrahman; Al-Ali, Amein K; Sebastiani, Paola; Steinberg, Martin H

    2016-11-01

    Fetal hemoglobin (HbF) levels are higher in the Arab-Indian (AI) β-globin gene haplotype of sickle cell anemia compared with African-origin haplotypes. To study genetic elements that effect HbF expression in the AI haplotype we completed whole genome sequencing in 14 Saudi AI haplotype sickle hemoglobin homozygotes-seven selected for low HbF (8.2% ± 1.3%) and seven selected for high HbF (23.5% ± 2.6%). An intronic single nucleotide polymorphism (SNP) in ANTXR1, an anthrax toxin receptor (chromosome 2p13), was associated with HbF. These results were replicated in two independent Saudi AI haplotype cohorts of 120 and 139 patients, but not in 76 Saudi Benin haplotype, 894 African origin haplotype and 44 AI haplotype patients of Indian origin, suggesting that this association is effective only in the Saudi AI haplotype background. ANTXR1 variants explained 10% of the HbF variability compared with 8% for BCL11A. These two genes had independent, additive effects on HbF and together explained about 15% of HbF variability in Saudi AI sickle cell anemia patients. ANTXR1 was expressed at mRNA and protein levels in erythroid progenitors derived from induced pluripotent stem cells (iPSCs) and CD34(+) cells. As CD34(+) cells matured and their HbF decreased ANTXR1 expression increased; as iPSCs differentiated and their HbF increased, ANTXR1 expression decreased. Along with elements in cis to the HbF genes, ANTXR1 contributes to the variation in HbF in Saudi AI haplotype sickle cell anemia and is the first gene in trans to HBB that is associated with HbF only in carriers of the Saudi AI haplotype. Am. J. Hematol. 91:1118-1122, 2016. © 2016 Wiley Periodicals, Inc.

  5. Chronic inflammatory state in sickle cell anemia patients is associated with HBB(*)S haplotype.

    Science.gov (United States)

    Bandeira, Izabel C J; Rocha, Lillianne B S; Barbosa, Maritza C; Elias, Darcielle B D; Querioz, José A N; Freitas, Max Vitor Carioca; Gonçalves, Romélia P

    2014-02-01

    The chronic inflammatory state in sickle cell anemia (SCA) is associated with several factors such as the following: endothelial damage; increased production of reactive oxygen species; hemolysis; increased expression of adhesion molecules by leukocytes, erythrocytes, and platelets; and increased production of proinflammatory cytokines. Genetic characteristics affecting the clinical severity of SCA include variations in the hemoglobin F (HbF) level, coexistence of alpha-thalassemia, and the haplotype associated with the HbS gene. The different haplotypes of SCA are Bantu, Benin, Senegal, Cameroon, and Arab-Indian. These haplotypes are associated with ethnic groups and also based on the geographical origin. Studies have shown that the Bantu haplotype is associated with higher incidence of clinical complications than the other haplotypes and is therefore considered to have the worst prognosis. This study aimed to evaluate the profile of the proinflammatory cytokines interleukin-6, tumor necrosis factor-α, and interleukin-17 in patients with SCA and also to assess the haplotypes associated with beta globin cluster S (HBB(*)S). We analyzed a total of 62 patients who had SCA and had been treated with hydroxyurea; they had received a dose ranging between 15 and 25 (20.0±0.6)mg/kg/day for 6-60 (18±3.4)months; their data were compared with those for 30 normal individuals. The presence of HbS was detected and the haplotypes of the beta S gene cluster were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Our study demonstrated that SCA patients have increased inflammatory profile when compared to the healthy individuals. Further, analysis of the association between the haplotypes and inflammatory profile showed that the levels of IL-6 and TNF-α were greater in subjects with the Bantu/Bantu haplotype than in subjects with the Benin/Benin haplotype. The Bantu/Benin haplotype individuals had lower levels of cytokines than those with

  6. [Frequency of sickle-cell anemia in the population of "Cuatro Bocas," Parroquia Ricaurte, Mara municipality, Zulia state, Venezuela].

    Science.gov (United States)

    Torres-Guerra, E; Torres-Guerra, T; Valbuena, G; Arteaga Vizcaíno, M; Soto, L

    1993-01-01

    Isla de Toas is an island on the north of the Maracaibo Lake, it is known in the scientific community, for the high frequency of sickle cell disease, in a population with caucasoid phenotype. The purpose of the present work was to determine the frequency of sickle cell anemia in the population of Cuatro Bocas, situated 35 km from the southwest of Isla de Toas. The town is the center of confluence of a rural population constituted mainly of farmers. The sample consisted of 870 persons of both sexes, aged from 8 months to 66 years. The presence of the sickling phenomenon was determined in all the individuals, and hemoglobin electrophoresis in agarose was performed in all the positive samples. The following results were obtained: fifty-six cases (6.4%), showed drepanocytic changes, and forty-six of them were haemoglobin A/S, 8 were S/S and 2 were S/C. The higher frequency of hemoglobin S was in adolescents and adults. The family backgrounds suggest an insular origin of the sickle cell gene. About 75% of the affected population was ignorant of this condition. The hemoglobin values were lower in the individuals with the sickle cell disease (p < 0.05), than in the normal persons. Iron deficiency in adolescents was suspected because or their low hemoglobin values. The results indicate that the sickle cell gen is expanding to the nearest communities of the Mara county. It is important to consider that the findings of the present work should serve as an alert to the Public Health authorities, and that education of the population is important in order to prevent the spreading of the disease.

  7. A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola.

    Science.gov (United States)

    McGann, Patrick T; Ferris, Margaret G; Ramamurthy, Uma; Santos, Brigida; de Oliveira, Vysolela; Bernardino, Luis; Ware, Russell E

    2013-12-01

    Over 300,000 infants are born annually with sickle cell anemia (SCA) in sub-Saharan Africa, and >50% die young from infection or anemia, usually without diagnosis of SCA. Early identification by newborn screening (NBS), followed by simple interventions dramatically reduced the mortality of SCA in the United States, but this strategy is not yet established in Africa. We designed and implemented a proof-of-principle NBS and treatment program for SCA in Angola, with focus on capacity building and local ownership. Dried bloodspots from newborns were collected from five birthing centers. Hemoglobin identification was performed using isoelectric focusing; samples with abnormal hemoglobin patterns were analyzed by capillary electrophoresis. Infants with abnormal FS or FSC patterns were enrolled in a newborn clinic to initiate penicillin prophylaxis and receive education, pneumococcal immunization, and insecticide-treated bed nets. A total of 36,453 infants were screened with 77.31% FA, 21.03% FAS, 1.51% FS, and 0.019% FSC. A majority (54.3%) of affected infants were successfully contacted and brought to clinical care. Compliance in the newborn clinic was excellent (96.6%). Calculated first-year mortality rate for babies with SCA compares favorably to the national infant mortality rate (6.8 vs. 9.8%). The SCA burden is extremely high in Angola, but NBS is feasible. Capacity building and training provide local healthcare workers with skills needed for a functional screening program and clinic. Contact and retrieval of all affected SCA infants remains a challenge, but families are compliant with clinic appointments and treatment. Early mortality data suggest screening and early preventive care saves lives.

  8. Exercise tolerance, lung function abnormalities, anemia, and cardiothoracic ratio in sickle cell patients.

    Science.gov (United States)

    van Beers, Eduard J; van der Plas, Mart N; Nur, Erfan; Bogaard, Harm-Jan; van Steenwijk, Reindert P; Biemond, Bart J; Bresser, Paul

    2014-08-01

    Many patients with sickle cell disease (SCD) have a reduced exercise capacity and abnormal lung function. Cardiopulmonary exercise testing (CPET) can identify causes of exercise limitation. Forty-four consecutive SCD patients (27 HbSS, 11 HbSC, and 6 HbS-beta thalassemia) with a median age (interquartile range) of 26 (21-41) years underwent pulmonary function tests, CPET, chest x-ray, and echocardiography to further characterize exercise limitation in SCD. Peak oxygen uptake (V'O2 -peak), expressing maximum exercise capacity, was decreased in 83% of the studied patients. V'O2 -peak correlated with hemoglobin levels (R = 0.440, P = 0.005), forced vital capacity (FVC) (R = 0.717, P anemia (n = 17), cardiovascular dysfunction (n = 2), musculoskeletal function (n = 10), pulmonary ventilatory abnormalities (n = 1), pulmonary vascular exercise limitation (n = 1), and poor effort (n = 3). In the present study we demonstrate that anemia is the most important determinant of reduced exercise tolerance observed in SCD patients without signs of pulmonary hypertension. We found a strong correlation between various parameters of lung volume and cardiothoracic ratio and we hypothesize that cardiomegaly and relative small chest size may be important causes of the impairment in pulmonary function, that is, reduced long volumes and diffusion capacity, in SCD. Taking into account anthropomorphic differences between SCD patients and controls could help to interpret lung function studies in SCD better.

  9. GM-CSF in sickle cell anemia patients with elevated Hb F.

    Science.gov (United States)

    Haider, M Z; Raghupathy, R; Azizieh, F; Abdelsalam, R; D'Souza, T M; Adekile, A D

    2000-01-01

    We estimated plasma GM-CSF levels in a group of 28 steady-state sickle cell anemia (SS) patients in Kuwait, using an ELISA technique. There were 24 age-matched Hb AA controls, 14 of whom were healthy while 10 were acutely ill at the time of the study. Five SS patients were also studied during 6 episodes of painful crisis. Among the SS patients, 82.1% were homozygous for the Saudi Arabia/India (SAI) haplotype with Hb F ranging from 15 to 35% and total Hb from 8.5 to 11 g/dl. Three patients (siblings) were SAI/Benin compound heterozygotes with Hb F of 9-23% and total Hb >10 g/dl. One patient each was homozygous for the Benin or the Bantu haplotype; they had Hb F <2% and total Hb of 6.6 and 7.2 g/dl, respectively. Four (14. 3%) steady-state SS patients had detectable plasma GM-CSF ranging from 75 to 1,817.6 pg/ml. These included the 2 patients with Hb F <2. 0% and 2 with the SAI/Benin compound heterozygotes with Hb F of 11 and 9%, respectively. Four (66.7%) SS patients in crisis, 6 (42.9%) healthy controls and 6 (60%) acutely ill controls had detectable plasma GM-CSF. A clearcut association of GM-CSF with Hb F level or degree of anemia in steady-state SS patients could not be established. The appearance of GM-CSF in the plasma of patients in crisis and also among control subjects raises the possibility that other factors are involved in the production of this cytokine in the subjects studied.

  10. Is sickle cell anemia a risk factor for severe dental malocclusion?

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    Cyrene Piazera Silva COSTA

    2015-01-01

    Full Text Available The aim of this study was to investigate possible associations between sickle cell anemia (SCA and the severity of dental malocclusion (MO. This was a retrospective cohort study of 93 individuals with SCA (G1 and 186 individuals without the disease (G2. SCA patients were randomly selected by a simple draw from patients treated in the Centro de Hematologia e Hemoterapia do Maranhão (HEMOMAR in northeastern Brazil. Patients aged between 16 and 60 were included after being tested for the hemoglobin S gene. G2 consisted of individuals living in the same residence as the patients. The Dental Aesthetic Index (DAI, as well as some morphological deviations not included in DAI, were used for the orthodontic evaluation of MO. Poisson regression with robust variance adjustment was employed to estimate relative risk (RR. In the multivariate analysis, SCA was associated with moderate (RR = 1.36 and very severe MO (RR = 8.0. SCA is correlated with anterior tooth loss (RR = 1.94, anterior spacing (RR = 1.66, overjet (RR = 1.87, anterior crossbite (RR = 1.94, and open bite (RR = 1.94. Thus, SCA is a risk factor for moderate and very severe MO.

  11. Is sickle cell anemia a risk factor for severe dental malocclusion?

    Science.gov (United States)

    Costa, Cyrene Piazera Silva; Carvalho, Halinna Larissa Cruz Correa; Souza, Soraia de Fátima Carvalho; Thomaz, Erika Bárbara Abreu Fonseca

    2015-01-01

    The aim of this study was to investigate possible associations between sickle cell anemia (SCA) and the severity of dental malocclusion (MO). This was a retrospective cohort study of 93 individuals with SCA (G1) and 186 individuals without the disease (G2). SCA patients were randomly selected by a simple draw from patients treated in the Centro de Hematologia e Hemoterapia do Maranhão (HEMOMAR) in northeastern Brazil. Patients aged between 16 and 60 were included after being tested for the hemoglobin S gene. G2 consisted of individuals living in the same residence as the patients. The Dental Aesthetic Index (DAI), as well as some morphological deviations not included in DAI, were used for the orthodontic evaluation of MO. Poisson regression with robust variance adjustment was employed to estimate relative risk (RR). In the multivariate analysis, SCA was associated with moderate (RR = 1.36) and very severe MO (RR = 8.0). SCA is correlated with anterior tooth loss (RR = 1.94), anterior spacing (RR = 1.66), overjet (RR = 1.87), anterior crossbite (RR = 1.94), and open bite (RR = 1.94). Thus, SCA is a risk factor for moderate and very severe MO.

  12. Interleukin-1β and interleukin-6 gene polymorphisms are associated with manifestations of sickle cell anemia.

    Science.gov (United States)

    Vicari, Perla; Adegoke, Samuel A; Mazzotti, Diego Robles; Cançado, Rodolfo Delfini; Nogutti, Maria Aparecida Eiko; Figueiredo, Maria Stella

    2015-03-01

    Sickle cell anemia (SCA), a disorder characterized by both acute and chronic inflammation, exhibits substantial phenotypic variability. Interleukin-1 beta (IL-1β) and IL-6 are important in acute and chronic diseases, and their single nucleotide polymorphisms (SNPs) have been considered as predictors of prognosis in several inflammatory conditions. This study aims at exploring possible association of IL-1β and IL-6 SNPs as potential genetic modifiers and or predictors of SCA clinical and laboratory phenotypes. This cross-sectional study involved 107 SCA patients and 110 age, sex and ethnicity-matched healthy individuals. The SNPs were identified by PCR-RFLP for IL-1β (-511C>T and +3954C>T) and IL-6 (-597G>A and -174G>C) genes. Associations between these SNPs and the clinical and laboratory profiles of patients with SCA were then determined. Allelic and genotypic frequencies of IL-1β and IL-6 SNPs between patients with SCA and controls were similar and followed HWE. IL-1β +3954C>T SNP was associated with increased risk of osteonecrosis, elevated pulmonary arterial pressure and lower absolute reticulocyte count, while IL-6 -597G>A was associated with higher likelihood of retinopathy and leg ulcer. These data indicate that IL-1β and IL-6 gene SNPs are associated with SCA complications among Brazilian patients and may act as genetic predictors of SCA clinical heterogeneity.

  13. Sickle Cell Anemia: Reference Values of Cerebral Blood Flow Determined by Continuous Arterial Spin Labeling MRI

    Science.gov (United States)

    Arkuszewski, M.; Krejza, J.; Chen, R.; Melhem, E.R.

    2013-01-01

    Sickle cell anemia (SCA) is a chronic illness associated with progressive deterioration in patients' quality of life. The major complications of SCA are cerebrovascular accidents (CVA) such as asymptomatic cerebral infarct or overt stroke. The risk of CVA may be related to chronic disturbances in cerebral blood flow (CBF), but the thresholds of “normal” steady-state CBF are not well established. The reference tolerance limits of CBF can be useful to estimate the risk of CVA in asymptomatic children with SCA, who are negative for hyperemia or evidence of arterial narrowing. Continuous arterial spin labeling (CASL) MR perfusion allows for non-invasive quantification of global and regional CBF. To establish such reference tolerance limits we performed CASL MR examinations on a 3-Tesla MR scanner in a carefully selected cohort of 42 children with SCA (mean age, 8.1±3.3 years; range limits, 2.3–14.4 years; 24 females), who were not on chronic transfusion therapy, had no history of overt stroke or transient ischemic attack, were free of signs and symptoms of focal vascular territory ischemic brain injury, did not have intracranial arterial narrowing on MR angiography and were at low risk for stroke as determined by transcranial Doppler ultrasonography. PMID:23859242

  14. Sickle cell anemia: reference values of cerebral blood flow determined by continuous arterial spin labeling MRI.

    Science.gov (United States)

    Arkuszewski, M; Krejza, J; Chen, R; Melhem, E R

    2013-04-01

    Sickle cell anemia (SCA) is a chronic illness associated with progressive deterioration in patients' quality of life. The major complications of SCA are cerebrovascular accidents (CVA) such as asymptomatic cerebral infarct or overt stroke. The risk of CVA may be related to chronic disturbances in cerebral blood flow (CBF), but the thresholds of "normal" steady-state CBF are not well established. The reference tolerance limits of CBF can be useful to estimate the risk of CVA in asymptomatic children with SCA, who are negative for hyperemia or evidence of arterial narrowing. Continuous arterial spin labeling (CASL) MR perfusion allows for non-invasive quantification of global and regional CBF. To establish such reference tolerance limits we performed CASL MR examinations on a 3-Tesla MR scanner in a carefully selected cohort of 42 children with SCA (mean age, 8.1±3.3 years; range limits, 2.3-14.4 years; 24 females), who were not on chronic transfusion therapy, had no history of overt stroke or transient ischemic attack, were free of signs and symptoms of focal vascular territory ischemic brain injury, did not have intracranial arterial narrowing on MR angiography and were at low risk for stroke as determined by transcranial Doppler ultrasonography.

  15. Neuropsychological impairment in children with sickle cell anemia and cerebrovascular accidents.

    Science.gov (United States)

    Cohen, M J; Branch, W B; McKie, V C; Adams, R J

    1994-09-01

    Neuropsychological functioning of children with sickle cell anemia (HbSS) who have experienced a single stroke has not been extensively investigated. In this study, the neuropsychological functioning of 10 children with HbSS who were receiving transfusion therapy following stroke with no identifiable recurrence was examined. The patients were subgrouped into children with only left hemisphere stroke (LCI), N = 4, and those with only right hemisphere stroke (RCI), N = 6. Results indicated that these youngsters experienced significant impairments of cognitive functioning following stroke. It was found that the LCI and RCI children tended to perform more like adult stroke patients than what has been typically reported in children with infantile hemiplegia. These findings support the need for periodic neuropsychological evaluation following stroke in order to identify patterns of higher cortical dysfunction and assist in the development of appropriate rehabilitation and special education programs. Further, pediatricians, child neurologists, and psychologists who care for these children must act as strong advocates on their behalf in order to ensure that they receive appropriate rehabilitation and the special education services necessary for maximal recovery and future educational success.

  16. Hydroxyurea (HU) for prevention of recurrent stroke in sickle cell anemia (SCA).

    Science.gov (United States)

    Sumoza, Abraham; de Bisotti, Renate; Sumoza, David; Fairbanks, Virgil

    2002-11-01

    Cerebrovascular accident (CVA) is a major cause of morbidity and death in sickle cell anemia (SCA). Transfusion of packed erythrocytes is widely used to prevent this complication. However, chronic transfusion may lead to iron overload, alloimmunization, or infections. Cost and compliance may compromise transfusion therapy. A possible alternative, the prophylactic use of hydroxyurea (HU), has not been tried to determine whether it may prevent recurrent stroke. We used HU in five children with SCA who had suffered stroke, in three of them after a first episode and in the other two after a second CVA. Four had infarctive stroke and one a transient ischemic attack (TIA). Four patients took HU at a dose of 40 mg/kg/d, one patient at 30 mg/kg/d. None of the patients had recurrent stroke during 42-112 months of observation. None experienced pain crises. In all, HbF increased significantly and was maintained above 14.7% during treatment. The total Hb concentration increased 19.5 g/L (median) above the value before treatment. HU was well tolerated. None of the five children had leukopenia or thrombocytopenia during therapy. HU appears to prevent recurrence of stroke in SCA without risk of major toxicity.

  17. Genetic polymorphisms and cerebrovascular disease in children with sickle cell anemia from Rio de Janeiro, Brazil

    Directory of Open Access Journals (Sweden)

    Isaac Lima da Silva Filho

    2011-06-01

    Full Text Available The aim of the present work was to examine possible genetic risk factors related to the occurrence of cerebrovascular disease (CVD in Brazilian population, the frequency of βS-globin gene haplotypes and co-inheritance with α-thalassemia (-α3.7kb and single nucleotide polymorphism of methylenetetrahydrofolate reductase (MTHFR-C677T, Factor V Leiden (FV-G1691A and prothrombin (PT-G20210A genes in children from Rio de Janeiro. Ninety four children with sickle cell anemia (SCA were included, 24 patients with cerebrovascular involvement and 70 patients without CVD as control group. The mean age of children at the time of the cerebrovascular event was similar to the control group. The frequency of -α3.7kb thalassemia was similar in both groups (p=0.751. Children with Bantu/Atypical βS-globin gene haplotype presented 15 times more chance (OR=15.4 CI 95% 2.9-81.6 of CVD than the other βS-globin gene haplotypes. The C677T polymorphism of MTHFR gene was similar in both groups (p=0.085. No mutation in the FV Leiden or PT genes was found. A large study seems necessary to establish the role of these genetic polymorphisms in Brazilian miscegenated population.

  18. Haplotypes of beta S chromosomes among patients with sickle cell anemia from Georgia.

    Science.gov (United States)

    Hattori, Y; Kutlar, F; Kutlar, A; McKie, V C; Huisman, T H

    1986-01-01

    Fetal hemoglobin and G gamma levels have been correlated with the presence or absence of eight restriction sites within the beta globin gene cluster (haplotypes) for numerous sickle cell anemia patients from Georgia. The most common haplotypes were #19 (Benin) and #20 (CAR); all patients with haplotype combinations 19/19, 20/20, and 19/20 were severely affected with low Hb F and low G gamma levels. A modified #19 beta S chromosome with a -G gamma-G gamma- globin gene arrangement, instead of -G gamma-A gamma-, was present in SS and SC newborn babies with G gamma values above 80%. Haplotype #3 (Senegal) was present among 15% of the beta S chromosomes; the two adult patients with the 3/3 combination were mildly affected with high Hb F and G gamma values. The haplotype AT with the variant A gamma T chain was a rarity. A new haplotype was found in one 17-year-old SS patient and five of his Hb S heterozygous relatives. This haplotype is associated with an increased production of Hb F in heterozygous and homozygous Hb S individuals; this Hb F contained primarily A gamma chains. A comparison was made between the different haplotypes among SS patients and normal Black individuals, and a remarkable similarity was noted in the fetal hemoglobin data for subjects with these different chromosomes.

  19. Sickle Cell Unit.

    Science.gov (United States)

    Canipe, Stephen L.

    Included in this high school biology unit on sickle cell anemia are the following materials: a synopsis of the history of the discovery and the genetic qualities of the disease; electrophoresis diagrams comparing normal, homozygous and heterozygous conditions of the disease; and biochemical characteristics and population genetics of the disease. A…

  20. Multi-color phase imaging and sickle cell anemia (Conference Presentation)

    Science.gov (United States)

    Hosseini, Poorya; Zhou, Renjie; Yaqoob, Zahid; So, Peter T. C.

    2016-03-01

    Quantitative phase measurements at multiple wavelengths has created an opportunity for exploring new avenues in phase microscopy such as enhancing imaging-depth (1), measuring hemoglobin concentrations in erythrocytes (2), and more recently in tomographic mapping of the refractive index of live cells (3). To this end, quantitative phase imaging has been demonstrated both at few selected spectral points as well as with high spectral resolution (4,5). However, most of these developed techniques compromise imaging speed, field of view, or the spectral resolution to perform interferometric measurements at multiple colors. In the specific application of quantitative phase in studying blood diseases and red blood cells, current techniques lack the required sensitivity to quantify biological properties of interest at individual cell level. Recently, we have set out to develop a stable quantitative interferometric microscope allowing for measurements of such properties for red cells without compromising field of view or speed of the measurements. The feasibility of the approach will be initially demonstrated in measuring dispersion curves of known solutions, followed by measuring biological properties of red cells in sickle cell anemia. References: 1. Mann CJ, Bingham PR, Paquit VC, Tobin KW. Quantitative phase imaging by three-wavelength digital holography. Opt Express. 2008;16(13):9753-64. 2. Park Y, Yamauchi T, Choi W, Dasari R, Feld MS. Spectroscopic phase microscopy for quantifying hemoglobin concentrations in intact red blood cells. Opt Lett. 2009;34(23):3668-70. 3. Hosseini P, Sung Y, Choi Y, Lue N, Yaqoob Z, So P. Scanning color optical tomography (SCOT). Opt Express. 2015;23(15):19752-62. 4. Jung J-H, Jang J, Park Y. Spectro-refractometry of individual microscopic objects using swept-source quantitative phase imaging. Anal Chem. 2013;85(21):10519-25. 5. Rinehart M, Zhu Y, Wax A. Quantitative phase spectroscopy. Biomed Opt Express. 2012;3(5):958-65.

  1. Chronic and acute anemia and extracranial internal carotid stenosis are risk factors for silent cerebral infarcts in sickle cell anemia.

    Science.gov (United States)

    Bernaudin, Françoise; Verlhac, Suzanne; Arnaud, Cécile; Kamdem, Annie; Vasile, Manuela; Kasbi, Florence; Hau, Isabelle; Madhi, Fouad; Fourmaux, Christine; Biscardi, Sandra; Epaud, Ralph; Pondarré, Corinne

    2015-03-05

    Early transcranial Doppler (TCD) screening of the Créteil sickle cell anemia (SCA)-newborn cohort, and rapid initiation of transfusion programs, resulted in successful prevention of overt strokes, but a high cumulative risk of silent cerebral infarcts (SCI) remained, suggesting that TCD screening does not identify all patients with SCA at risk for SCI. We hypothesized that episodes of hypoperfusion/hypoxia, as observed during acute chest syndromes or acute anemic events (AAE), and extracranial internal carotid artery (eICA) stenoses, detectable via submandibular Doppler sonography and cervical magnetic resonance angiography (MRA), could also be risk factors for SCI. This study includes 189 stroke-free patients with SCA from the Créteil newborn cohort (1992-2010) followed longitudinally by magnetic resonance imaging/MRA, including cervical MRA at the last assessment. All patients with abnormal TCD and/or intracranial stenoses were placed on a transfusion program. Mean follow-up was 9.9 years (range, 2.2-19.9 years; 1844 patient-years). Annual rates of clinical events were calculated. The cumulative risk for SCI was 39.1% (95% confidence interval [CI], 23.5%-54.7%) by age 18 years, with no plateau. We confirm that baseline hemoglobin level lower than 7 g/dL before age 3 years is a highly significant predictive risk factor for SCI (hazard ratio, 2.97; 95% CI, 1.43-6.17; P = .004). Furthermore, we show that AAE rate (odds ratio, 2.64 per unit increase; 95% CI, 1.09-6.38; P = .031) and isolated eICA stenosis (odds ratio, 3.19; 95% CI, 1.18-8.70; P = .023) are significant and independent risk factors for SCI.

  2. Asymptomatic bacteriuria in children with sickle cell anemia at The University of Nigeria teaching hospital, Enugu, South East, Nigeria

    Directory of Open Access Journals (Sweden)

    Ikefuna Anthony N

    2011-09-01

    Full Text Available Abstract Background Urinary tract infection (UTI is a common cause of childhood morbidity and mortality in the tropics. Children with sickle cell anemia (SCA may have compromised kidney function arising from repeated vaso-occlusive episodes and recurrent symptomatic or asymptomatic UTI. Objectives This study aims at determining the prevalence of asymptomatic bacteriuria and sensitivity pattern in children with homozygous sickle haemoglobin compared to children with normal haemoglobin. Methods One hundred children with SCA in stable state and 100 children with normal haemoglobin aged 2-12 years were screened for asymptomatic bacteriuria using midstream urine samples. The samples were incubated aerobically at 37°C for 24 hours within one hour of collection. Children whose urine samples yielded significant bacteriuria (≥105cfu/ml on two consecutive cultures were regarded as having asymptomatic bacteriuria. Results Asymptomatic bacteriuria was noted in 6% of children with SCA and occurred more in females than males (F: M = 5:1 when compared to 2% in children with normal haemoglobin. Escherichia coli was the commonest organism isolated (33.3%. All the organisms were resistant to co-trimoxazole and ampicillin while most were sensitive to gentamicin, ceftriaxone and the quinolones. Conclusion The risk of asymptomatic bacteriuria is three times more common in children with sickle cell anemia than in children with normal haemoglobin. It is therefore important to screen SCA patients, especially the females for UTI and should be treated according to the sensitivity result of the cultured organisms.

  3. Mortality in sickle cell anemia in Africa: a prospective cohort study in Tanzania.

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    Julie Makani

    Full Text Available BACKGROUND: The World Health Organization has declared Sickle Cell Anemia (SCA a public health priority. There are 300,000 births/year, over 75% in Africa, with estimates suggesting that 6 million Africans will be living with SCA if average survival reaches half the African norm. Countries such as United States of America and United Kingdom have reduced SCA mortality from 3 to 0.13 per 100 person years of observation (PYO, with interventions such as newborn screening, prevention of infections and comprehensive care, but implementation of interventions in African countries has been hindered by lack of locally appropriate information. The objective of this study was to determine the incidence and factors associated with death from SCA in Dar-es-Salaam. METHODS AND FINDINGS: A hospital-based cohort study was conducted, with prospective surveillance of 1,725 SCA patients recruited from 2004 to 2009, with 209 (12% lost to follow up, while 86 died. The mortality rate was 1.9 (95%CI 1.5, 2.9 per 100 PYO, highest under 5-years old [7.3 (4.8-11.0], adjusting for dates of birth and study enrollment. Independent risk factors, at enrollment to the cohort, predicting death were low hemoglobin (<5 g/dL [3.8 (1.8-8.2; p = 0.001] and high total bilirubin (≥102 µmol/L [1.7 (1.0-2.9; p = 0.044] as determined by logistic regression. CONCLUSIONS: Mortality in SCA in Africa is high, with the most vulnerable period being under 5-years old. This is most likely an underestimate, as this was a hospital cohort and may not have captured SCA individuals with severe disease who died in early childhood, those with mild disease who are undiagnosed or do not utilize services at health facilities. Prompt and effective treatment for anemia in SCA is recommended as it is likely to improve survival. Further research is required to determine the etiology, pathophysiology and the most appropriate strategies for management of anemia in SCA.

  4. Evaluation of caries-associated virulence of biofilms from Candida albicans isolated from saliva of pediatric patients with sickle-cell anemia

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    Brighenti,Fernanda Lourenção; Medeiros, Amanda Coelho; Bruno Mello MATOS; RIBEIRO,Zulene Eveline Abreu; Koga-Ito, Cristiane Yumi

    2014-01-01

    A previous study demonstrated that the amount of Candida spp. in saliva is higher in children with sickle-cell disease. The results from a recent study demonstrate its participation in the etiology of dental caries. Objective This study assessed caries-associated virulence (production of acid, extracellular polysaccharides, proteins and metabolic activity) of biofilms from Candida albicans isolated from saliva of patients with sickle-cell anemia in comparison to isolates obtained from matc...

  5. Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil

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    Elisângela Vitória Adorno

    2008-01-01

    Full Text Available Beta S-globin gene (βS-globin haplotypes, markers for severe sickle cell anemia (SCA, and the alpha-thalassemia 2 gene 3.7 kb deletion (-α2(3.7 kb thal along with demographic and clinical data were investigated in SCA outpatients (n = 125, 63 female and 62 male in the Brazilian state of Bahia, which has a high prevalence SCA. PCR-RFLP showed that the Central African Republic/Benin (CAR/BEN, 51.2% haplotype was most frequent, followed by the Benin/Benin (Ben/Ben, 28.8%. At least one CAR haplotype was present in every outpatient with a history of cerebrovascular accident. The Cameroon (Cam, Senegal (Sen and Arab-India haplotypes occurred in small numbers, as did atypical haplotypes. Fetal hemoglobin (HbF, % was unevenly distributed. Compared to those > 18 y, those aged < 18 y had had fewer erythrocyte transfusions and high HbF levels (12.3% ± 7.01 to 7.9% ± 4.36 but a higher frequency of spleen sequestration and pneumonia. Compared with normal α - genes carriers values, the outpatients with -α2(3.7 kb thal (determined by PCR analysis had significantly higher mean hemoglobin concentration (Hb (8.3 ± 1.34 g/dL, p = 0.018 and packed cell volume (PCV = 27.1% ± 4.26, p = 0.019 but low mean corpuscular volume (MCV = 86.1 fL = 10-15 L ± 9.56, p = 0.0004 and mean corpuscular hemoglobin (MCH = 26.6% ± 4.60, p = 0.039.

  6. Delayed hemolytic transfusion reaction presenting as a painful crisis in a patient with sickle cell anemia

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    Antonio Fabron Junior

    1999-01-01

    Full Text Available CONTEXT: Patients with sickle cell anemia (SCA are frequently transfused with red blood cells (RBC. Recently, we reported that the calculated risk of RBC alloimmunization per transfused unit in Brazilian patients with SCA is 1.15%. We describe a delayed hemolytic transfusion reaction (DHTR presenting as a painful crisis in a patient with SCA. CASE REPORT: A 35-year-old Brazilian female with homozygous SCA was admitted for a program of partial exchange transfusion prior to cholecystectomy. Her blood group was O RhD positive and no atypical RBC alloantibody was detected using the indirect antiglobulin technique. Pre-transfusional hemoglobin (Hb was 8.7 g/dL and isovolumic partial exchange transfusion was performed using 4 units of ABO compatible packed RBC. Five days after the last transfusion she developed generalized joint pain and fever of 39°C. Her Hb level dropped from 12.0 g/dL to 9.3 g/dL and the unconjugated bilirrubin level rose to 27 mmol/L. She was jaundiced and had hemoglobinuria. Hemoglobin electrophoresis showed 48.7% HbS, 46.6% HbA1, 2.7% HbA2, and 2.0% HbF. The patient’s extended RBC phenotype was CDe, K-k+, Kp(a-b+, Fy(a-b-, M+N+s+, Le(a+b-, Di(a-. An RBC alloantibody with specificity to the Rh system (anti-c, titer 1:16.384 was identified by the indirect antiglobulin test. The Rh phenotype of the RBC used in the last packed RBC transfusion was CcDEe. The patient was discharged, asymptomatic, 7 days after admission.

  7. Analysis of oxidative status and biochemical parameters in adult patients with sickle cell anemia treated with hydroxyurea, Ceará, Brazil

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    Paulo Florentino Teixeira Neto

    2011-06-01

    Full Text Available BACKGROUND: Sickle cell anemia is a hemoglobinopathy caused by a mutation that results in the production of an abnormal hemoglobin molecule, hemoglobin S (Hb S. This is responsible for profound physiological changes, such as the sickling of red blood cells. Several studies have shown that hydroxyurea protects against vaso-occlusive crises. OBJECTIVE: The aim of this study was to evaluate the oxidative stress associated with biochemical parameters in patients with sickle cell anemia treated with hydroxyurea. METHODS: The study was conducted with 20 male and 25 female patients at the Hospital Universitário Walter Cantídio. The patients were divided into two groups: a study group (n = 12, patients with sickle cell anemia who were receiving hydroxyurea and a control group (n = 33 of sickle cell anemia patients not submitted to hydroxyurea treatment. The biochemical parameters analyzed were ferritin, transferrin, and serum iron. Glutathione was measured in its reduced form to analyze the oxidative state. RESULTS: The results showed insignificant increases in the levels of serum iron, transferrin and ferritin in patients treated with hydroxyurea when compared with those who did not take the medication. However, the glutathione levels were significantly higher in patients taking hydroxyurea than in controls. CONCLUSION: These results indicate that hydroxyurea possibly acts as an antioxidant by increasing glutathione levels.

  8. The burden and quality of life of caregivers of sickle cell anemia patients taking hydroxyurea versus those not taking hydroxyurea

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    Luiz Bernardino Lima da Silva

    2012-01-01

    Full Text Available OBJECTIVE: To assess the burden and quality of life of caregivers of patients with sickle cell anemia taking hydroxyurea versus those of patients not taking hydroxyurea. METHODS: A cross-sectional study was performed of caregivers of outpatients with sickle cell anemia in two public hospitals in Campo Grande, MS, from January through June 2010. The World Health Organization Quality of Life-BREF Scale and the Caregiver Burden Scale were used. RESULTS: Of the 37 caregivers in this study, 81.1% were women, 73.0% were mothers, 59.5% were married, 54.1%were mulattos, 48.6% were housewives, 54.1% had family incomes of up to one minimum wage and 75.7% had onlycompleted elementary education. The mean duration of care provided (time after diagnosis was 16.08 ± 9.88 yearsand 89.2% reported that they provided 24-hour care. Regarding health, 27.0% of study participants reported having physical and 13.5% emotional problems. There were no significant relationships between these variables either with the different domains or the total score of the WHOQOL-BREF comparing caregivers of patients taking hydroxyurea versusthose of patients not taking hydroxyurea. There was a moderate negative linear correlation between the WHOQOL-BREF and the Caregiver Burden Scale scores (linear correlation test of Pearson: p-value = 0.003, r = -0.477. The burden of caregivers of patients who did not take hydroxyurea was significantly higher than those of patients who took the medication in terms of general tension, disappointment, environment and total score (student t-test: p-value < 0.05. CONCLUSION: In the perception of the caregiver, looking after sickle cell anemia patients represents a moderate negative burden.

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

    Science.gov (United States)

    de Montalembert, Mariane; Ribeil, Jean-Antoine; Brousse, Valentine; Guerci-Bresler, Agnes; Stamatoullas, Aspasia; Vannier, Jean-Pierre; Dumesnil, Cécile; Lahary, Agnès; Touati, Mohamed; Bouabdallah, Krimo; Cavazzana, Marina; Chauzit, Emmanuelle; Baptiste, Amandine; Lefebvre, Thibaud; Puy, Hervé; Elie, Caroline

    2017-01-01

    The risk and clinical significance of cardiac iron overload due to chronic transfusion varies with the underlying disease. Cardiac iron overload shortens the life expectancy of patients with thalassemia, whereas its effect is unclear in those with myelodysplastic syndromes (MDS). In patients with sickle cell anemia (SCA), iron does not seem to deposit quickly in the heart. Our primary objective was to assess through a multicentric study the prevalence of cardiac iron overload, defined as a cardiovascular magnetic resonance T2*8 ECs in the past year, and age older than 6 years. We included from 9 centers 20 patients with thalassemia, 41 with SCA, and 25 with MDS in 2012-2014. Erythrocytapharesis did not consistently prevent iron overload in patients with SCA. Cardiac iron overload was found in 3 (15%) patients with thalassemia, none with SCA, and 4 (16%) with MDS. The liver iron content (LIC) ranged from 10.4 to 15.2 mg/g dry weight, with no significant differences across groups (P = 0.29). Abnormal T2* was not significantly associated with any of the measures of transfusion or chelation. Ferritin levels showed a strong association with LIC. Non-transferrin-bound iron was high in the thalassemia and MDS groups but low in the SCA group (P<0.001). Hepcidin was low in thalassemia, normal in SCA, and markedly elevated in MDS (P<0.001). Two mechanisms may explain that iron deposition largely spares the heart in SCA: the high level of erythropoiesis recycles the iron and the chronic inflammation retains iron within the macrophages. Thalassemia, in contrast, is characterized by inefficient erythropoiesis, unable to handle free iron. Iron accumulation varies widely in MDS syndromes due to the competing influences of abnormal erythropoiesis, excess iron supply, and inflammation. PMID:28257476

  10. Academic performance and intelligence scores of primary school-aged children with sickle cell anemia.

    Science.gov (United States)

    Ezenwosu, Osita; Emodi, Ifeoma; Ikefuna, Anthony; Chukwu, Barth

    2013-11-01

    Children with sickle cell anemia (SCA) are faced with complications which may interfere with their educational activities including academic performance. Reports on their academic performance are mainly from developed countries and the results have been inconsistent. This study aimed to determine the academic performance of primary school-aged children with SCA in Nigeria and compare findings with a group of controls. Ninety children with SCA aged 5-11 years were consecutively recruited at the SCA clinic of UNTH Enugu and their age- and sex-matched normal classmates were enrolled as controls. Academic performance of the children with SCA was studied using the overall scores achieved in the three term examinations in the preceding academic year (2009/2010), while their intelligence quotient (IQ) was determined using the Draw-A-Person Test. The findings were compared with that of 90 controls. The mean overall academic score of the children with SCA of 62.71 ± 19.43% was similar to 67.47 ± 16.42% in the controls (P = .077). However, a significantly higher number of children with SCA (32.2% vs. 16.7% of the controls; P = .015) scored below 50%, thus, had poor performance. The mean IQ of the subjects (91.41 ±16.61%) was similar to that of the controls (95.56 ±17.31%, P = .103). However, more SCA patients had lower IQ scores than controls though not statistically significant (P = 0.083). The overall academic performance of children with SCA, therefore, compares favorably with that of controls although there is a higher prevalence of poor performance among them.

  11. Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia.

    Science.gov (United States)

    Wu, D Y; Ugozzoli, L; Pal, B K; Wallace, R B

    1989-04-01

    A rapid nonradioactive approach to the diagnosis of sickle cell anemia is described based on an allele-specific polymerase chain reaction (ASPCR). This method allows direct detection of the normal or the sickle cell beta-globin allele in genomic DNA without additional steps of probe hybridization, ligation, or restriction enzyme cleavage. Two allele-specific oligonucleotide primers, one specific for the sickle cell allele and one specific for the normal allele, together with another primer complementary to both alleles were used in the polymerase chain reaction with genomic DNA templates. The allele-specific primers differed from each other in their terminal 3' nucleotide. Under the proper annealing temperature and polymerase chain reaction conditions, these primers only directed amplification on their complementary allele. In a single blind study of DNA samples from 12 individuals, this method correctly and unambiguously allowed for the determination of the genotypes with no false negatives or positives. If ASPCR is able to discriminate all allelic variation (both transition and transversion mutations), this method has the potential to be a powerful approach for genetic disease diagnosis, carrier screening, HLA typing, human gene mapping, forensics, and paternity testing.

  12. Laboratory: Undergraduate Laboratory Experiment Teaching Fundamental Concepts of Rheology in Context of Sickle Cell Anemia

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    Vernengo, Jennifer; Purdy, Caitlin; Farrell, Stephanie

    2014-01-01

    This paper describes a biomedical engineering experiment that introduces students to rheology. Healthy and sickle-cell blood analogs are prepared that are composed of chitosan particles suspended in aqueous glycerol solutions, which substitute for RBCs and plasma, respectively. Students study flow properties of the blood analogs with a viscometer…

  13. Anemia falciforme e surdez infanto-juvenil: revisão da literatura Sickle Cell anemia and hearing loss among children and youngsters: literature review

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    Luzia Poliana Anjos da Silva

    2012-02-01

    Full Text Available Anemia falciforme ainda constitui grande problema de saúde pública em países subdesenvolvidos e em desenvolvimento. A doença falciforme é uma das doenças hereditárias mais comuns no Brasil. Afeta, principalmente, a população que apresenta grande miscigenação racial. Aproximadamente 1 criança afro-brasileira em cada 37400 nasce com a doença falciforme. Déficit auditivo tem sido considerado uma das principais manifestações clínicas, sobretudo em crianças. No entanto, até o momento, há escassez de estudos no Brasil, e na Bahia, estado brasileiro de maior população negra, com o objetivo de determinar a frequência desta manifestação. OBJETIVO: Analisar os principais estudos relacionados ao tema, publicados nos últimos 20 anos, nas principais bases de dados indexadas. MATERIAL E MÉTODO: Identificar por meio da base de dados MEDLINE os principais artigos da literatura médica da língua inglesa, publicados entre janeiro de 1989 a janeiro de 2009, que relataram associação entre anemia falciforme e déficit auditivo e suas repercussões clínicas. CONCLUSÃO: Visto que a prevenção de deficiências é sempre possível, o conhecimento sobre a surdez nas crianças com anemia falciforme possibilita maximizar a qualidade de vida e a inserção escolar ampla.Sickle cell anemia is still a significant public health issue in underdeveloped and developing countries. Sickle cell disease is one of the most common inherited diseases in Brazil. It affects mainly the mixed race population. Approximately 1 African-Brazilian child is affected with sickle cell disease for every 37,400 children born alive. Hearing loss has been considered one of the main clinical manifestations, especially in children. However, to date, there are just a hand full of studies in Brazil and the Brazilian state of Bahia has the largest African-descended population, attempting to establish the frequency of this event. OBJECTIVES: To analyze the major studies

  14. Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients

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    E.V. Adorno

    2008-02-01

    Full Text Available The fetal hemoglobin (HbF levels and ßS-globin gene haplotypes of 125 sickle cell anemia patients from Brazil were investigated. We sequenced the Gg- and Ag-globin gene promoters and the DNase I-2 hypersensitive sites in the locus control regions (HS2-LCR of patients with HbF level disparities as compared to their ßS haplotypes. Sixty-four (51.2% patients had CAR/Ben genotype; 36 (28.8% Ben/Ben; 18 (14.4% CAR/CAR; 2 (1.6% CAR/Atypical; 2 (1.6% Ben/Cam; 1 (0.8% CAR/Cam; 1 (0.8% CAR/Arab-Indian, and 1 (0.8% Sen/Atypical. The HS2-LCR sequence analyses demonstrated a c.-10.677G>A change in patients with the Ben haplotype and high HbF levels. The Gg gene promoter sequence analyses showed a c.-157T>C substitution shared by all patients, and a c.-222_-225del related to the Cam haplotype. These results identify new polymorphisms in the HS2-LCR and Gg-globin gene promoter. Further studies are required to determine the correlation between HbF synthesis and the clinical profile of sickle cell anemia patients.

  15. DNA damage in leukocytes of sickle cell anemia patients is associated with hydroxyurea therapy and with HBB*S haplotype.

    Science.gov (United States)

    da Silva Rocha, Lilianne Brito; Dias Elias, Darcielle Bruna; Barbosa, Maritza Cavalcante; Bandeira, Izabel Cristina Justino; Gonçalves, Romélia Pinheiro

    2012-12-12

    Hydroxyurea (HU) is the primary pharmacologic agent for preventing the complications and improving the quality of life of sickle cell anemia (SCA) patients. Although HU has been associated with an increased risk of leukemia in some patients with myeloproliferative disorders, the mutagenic and carcinogenic potential of HU has not been established. This study used the alkaline comet assay to investigate DNA damage in peripheral blood leukocytes from 41 individuals with SCA treated with HU (SCAHU) and from 26 normal individuals. The presence of HbS and the analysis of the haplotypes of the beta S gene cluster were done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The damage index (DI) in the SCAHU group was significantly higher than in controls (p20kg/m(2). No significant influence of mean HU dose was observed on DI (p=0.950). However, individuals who received a mean HU dose≥20mg/kg showed a higher DI than those who received less. Furthermore, an association was observed between DI damage and HBB*S gene haplotypes. DI values for the Bantu/Bantu haplotype was greater when compared to the Benin/Benin haplotype; and the Bantu/Benin haplotype had a DI lower than the Bantu/Bantu haplotype and greater than the Benin/Benin haplotype. Our results show that DNA damage in sickle cell anemia is associated not only with treatment with HU but also with genotype.

  16. A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia.

    Science.gov (United States)

    Belfer, Inna; Youngblood, Victoria; Darbari, Deepika S; Wang, Zhengyuan; Diaw, Lena; Freeman, Lita; Desai, Krupa; Dizon, Michael; Allen, Darlene; Cunnington, Colin; Channon, Keith M; Milton, Jacqueline; Hartley, Stephen W; Nolan, Vikki; Kato, Gregory J; Steinberg, Martin H; Goldman, David; Taylor, James G

    2014-02-01

    GTP cyclohydrolase (GCH1) is rate limiting for tetrahydrobiopterin (BH4) synthesis, where BH4 is a cofactor for nitric oxide (NO) synthases and aromatic hydroxylases. GCH1 polymorphisms are implicated in the pathophysiology of pain, but have not been investigated in African populations. We examined GCH1 and pain in sickle cell anemia where GCH1 rs8007267 was a risk factor for pain crises in discovery (n = 228; odds ratio [OR] 2.26; P = 0.009) and replication (n = 513; OR 2.23; P = 0.004) cohorts. In vitro, cells from sickle cell anemia subjects homozygous for the risk allele produced higher BH4. In vivo physiological studies of traits likely to be modulated by GCH1 showed rs8007267 is associated with altered endothelial dependent blood flow in females with SCA (8.42% of variation; P = 0.002). The GCH1 pain association is attributable to an African haplotype with where its sickle cell anemia pain association is limited to females (OR 2.69; 95% CI 1.21-5.94; P = 0.01) and has the opposite directional association described in Europeans independent of global admixture. The presence of a GCH1 haplotype with high BH4 in populations of African ancestry could explain the association of rs8007267 with sickle cell anemia pain crises. The vascular effects of GCH1 and BH4 may also have broader implications for cardiovascular disease in populations of African ancestry.

  17. Hematological parameters in association with outcomes in sickle cell anemia patients

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    Okocha Emmanuelchide

    2011-01-01

    Full Text Available Introduction: Sickle cell disease (SCD has a wide range of clinical presentation. We evaluated hematological parameters, which are widely evaluable and assessable, as indices of clinical outcome in SCD. These parameters, although largely established as indices of clinical outcome in other SCD populations, have not been widely evaluated in African patients. Materials and Methods: One hundred and thirty six consecutive stable SCD patients who presented in the sickle cell clinic of a teaching hospital were studied retrospectively using a questionnaire. Hematological parameters of full blood count (FBC for each patient were obtained using a cell counter. FBC parameters such as White blood cell count (WBC were then statistically correlated with complications such as ankle ulcers, osteomylitis and others. A Chi-square text was used to compare frequencies and generate P values. Results: The presence of sickle cell complications was significantly associated with raised white blood cell count (WBC above 11 × 10 >9 /l (P0 = 0.03.The WBC of the patients increased with increasing numbers of complications ( P = 0.07. Mean packed cell volume (PCV and WBC tended toward the reference range for age and sex (in apparently normal individuals as the age at diagnosis of SCD increased. This trend was significant for PCV (P = 0.01. Conclusion: Our data provide additional support that widely evaluable and assessable hematological parameters such as PCV and WBC can be used as indices to predict SCD outcome in African patients. This is likely to impart positively on individualized therapy.

  18. Serotype-specific immunoglobulin G antibody responses to pneumococcal polysaccharide vaccine in children with sickle cell anemia : Effects of continued penicillin prophylaxis

    NARCIS (Netherlands)

    Bjornson, AB; Falletta, JM; Verter, JI; Buchanan, GR; Miller, ST; Pegelow, CH; Iyer, RV; Johnstone, HS; DeBaun, MR; Wethers, DL; Woods, GM; Holbrook, CT; Becton, DL; Kinney, TR; Reaman, GH; Kalinyak, K; Grossman, NJ; Vichinsky, E; Reid, CD

    1996-01-01

    Objectives: (1) To determine serotype-specific IgG antibody responses to reimmunization with pneumococcal polysaccharide vaccine at age 5 years ski children with sickle cell anemia and (2) to determine whether continued penicillin prophylaxis had any adverse effects on these responses. Study design:

  19. Molecular characteristics of pediatric patients with sickle cell anemia and stroke.

    Science.gov (United States)

    Sarnaik, S A; Ballas, S K

    2001-07-01

    Cerebrovascular accidents (CVA) are serious complications of sickle cell anemia (SS) in children. Factors that predispose children to this complication are not well established. In an effort to elucidate the risk factors associated with CVA in SS, we have determined the alpha-globin genotype and the beta(S) haplotype of children with this complication. Among 700 children with SS followed at Children's Hospital of Michigan, 41 (6%) are on chronic transfusions because of stroke due to cerebral infarction. The mean age of patients with CVA at the time of stroke was 5.6 +/- 3.2 years (mean +/- SD). The male/female ratio was 2/3. Only 8 of 41 patients (19.5%) had one alpha-gene deletion, compared to the reported prevalence of 30% in African-Americans. None of the patients had two alpha-gene deletions, and two (5%) had five alpha-genes. These findings are different than those in our adult patients with SS, where the prevalence of -alpha/-alpha and alphaalphaalpha/alphaalpha is 4% and haplotypes were detected in the patients studied. The majority of the patients (31%) were doubly heterozygous for the Ben/CAR haplotypes followed by Ben/Ben, Ben/Sen, and CAR/CAR haplotypes, respectively. The prevalence of these haplotypes, with the exception of the CAR/CAR haplotype, was higher in females than males. All the patients with CAR/CAR haplotype were males, had four alpha-genes, and ranked third in prevalence. Three patients were heterozygous for the Cameron haplotype. The Cameron and atypical haplotypes were more prevalent than reported in patients with SS at large. The data suggest that CVA in children seems to occur more frequently in females and in patients with certain beta(S) haplotype. alpha-Gene deletion seems to offer a protective effect against this complication. Neonates with four or more alpha-genes whose beta(S) haplotype is Ben/CAR, atypical, or CAR/CAR seem to be at a higher risk for CAV than other patients. A prospective study on a larger group of patients with or

  20. Palmar-plantar erythrodysesthesia, clinical case presentation in a patient with craniopharyngioma and sickle cell anemia

    OpenAIRE

    Lora-Fernández Alberto Carlos; Arias-Arias Ramón

    2010-01-01

    The sickle-cell disease complicatiosn include acute isquemic crisis in extremities and organs, occur to fuctional and estructural alteration in oxigen transport toward tissue, our case of a patient with craniopharyngioma after posoperatory tumoral resection show necrosis in hand and foot, conduce to amputation, describe this clinic presentation after a allergic reaction to vancomicine and ceftriazone associated the hemoglobinopatie of the patient and management instaurated.RESUMENLas complica...

  1. Information and Resources for Caregivers: Sickle Cell Disease

    Science.gov (United States)

    ... medical information on the disease. Español/Spanish Information Anemia Falciforme (March of Dimes Birth Defects Foundation) Datos Sobre la Anemia Falciforme (Facts About Sickle Cell Anemia) AIDS ALS Cancer ...

  2. A importância do aconselhamento genético na anemia falciforme The importance of genetic counseling at sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Cínthia Tavares Leal Guimarães

    2010-06-01

    Full Text Available O aconselhamento genético tem a finalidade de nortear as pessoas sobre a tomada de decisões a respeito da procriação, ajudando-as a entender como a hereditariedade pode colaborar para a ocorrência ou risco de recorrência de doenças genéticas, como é o caso da anemia falciforme. Esta anemia é a doença hereditária de maior prevalência no Brasil, com complicações clínicas que podem prejudicar o desenvolvimento, a qualidade de vida e levar à morte. O presente artigo tem o intuito de elucidar a importância do aconselhamento genético para os portadores de anemia ou traço falciforme, visando salientar as principais características dessa doença, suas complicações e como é feito o diagnóstico e a captação desses doentes. O estudo realizado foi embasado no método bibliográfico, buscando estudos que dissertam sobre esse tipo de anemia e aconselhamento genético, correlacionando-os com as diretrizes e dados do Ministério da Saúde. A partir dos dados encontrados, infere-se a importância do aconselhamento genético para os indivíduos que apresentam a forma heterozigota da anemia falciforme - o traço falcêmico - e destaca-se a necessidade de implantação de programas de diagnóstico precoce e de orientação tanto genética quanto social e psicológica para as pessoas que possuem a doença ou o traço falciforme.The genetic counseling has the purpose of guiding people through a conscientious and balanced decision making process regarding procreation, helping them to understand how the hereditary succession can contribute for the occurrence or risk of recurrence of genetic illnesses, as it is the case of the sickle cell anemia. This type of anemia is the most prevalence hereditary illness in Brazil and has clinical complications that can harm the development, the quality of life and lead to death. The present article has the objective to clarify the importance of the genetic counseling for the anemia carriers or falciform

  3. Development of nanobiomarkers for use in sickle cell anemia; Desenvolvimento de nanomarcadores para serem utilizados na marcacao de hemoglobinas S (anemia falciforme)

    Energy Technology Data Exchange (ETDEWEB)

    Santos, Elen Goncalves dos

    2009-07-01

    Luminescent materials, such as the rare earth's complex, can be used as markers in cytology and immunology, being also used as luminescent bio markers, once the development of these nano materials create new possibilities to many fields, particularly in diagnostic medicine. Besides, it establishes one kind of fluorescent probes, for which there are no equivalent organic molecules. Due to its potential in market's application, the objective of this work was to develop luminescent materials, allowing the use of these super molecules of lanthanides as markers for the detection of Sickle Cell Disease (HbS). Six luminescent markers were developed and marked on rare's earth base. The main methodology used for the detection of HbS was fluoroimmunoassay, which is already used in investigation of enzymes, antibodies, cells, hormones, and so on. During this work, absorption's spectrum in the infrared by Fourier's Transform (FTIR) was also used to detect the HbS. The studied methods were applied for the diagnosis of this disease, which has genetic origin, very typical of the hemoglobin-pathology group and considered to be a public health problem in Brazil (ANVISA). When early diagnosed, Sickle Cell Disease (SCD) has a significant decrease in morbidity and mortality. Comparing the obtained results to the already known methodologies, it was possible to conclude that they are viable methods to detect HbS. Besides, when totally developed, these methods will contribute to the production of Sickle Cell Anemia's diagnostic, and they will have impact in Sao Paulo state's public measures, as well as in Brazil's ones. (author)

  4. Altered E-NTPDase/E-ADA activities and CD39 expression in platelets of sickle cell anemia patients.

    Science.gov (United States)

    Castilhos, Lívia G; Doleski, Pedro H; Adefegha, Stephen A; Becker, Lara V; Ruchel, Jader B; Leal, Daniela B R

    2016-04-01

    Sickle cell anemia (SCA) is a hemoglobinopathy characterized by hemolysis and vaso-occlusions caused by rigidly distorted red blood cells. Sickle cell crisis is associated with extracellular release of nucleotides and platelets, which are critical mediators of hemostasis participating actively in purinergic thromboregulatory enzymes system.This study aimed to investigate the activities of purinergic system ecto-enzymes present on the platelet surface as well as CD39 and CD73 expressions on platelets of SCA treated patients. Fifteen SCA treated patients and 30 health subjects (control group) were selected. Ecto-nucleoside triphosphate diphosphohydrolase (E-NTPDase), ecto-5'-nucleotidase (E-5'-NT) and ecto-adenosine deaminase (E-ADA) activities were measured in platelets isolated from these individuals. Results demonstrated an increase of 41 % in the E-NTPDase for ATP hydrolysis, 52% for ADP hydrolysis and 60 % in the E-ADA activity in SCA patients (P<0.05); however, a two folds decrease in the CD39 expression in platelets was observed in the same group (P<0.01). The increased E-NTPDase activity could be a compensatory mechanism associated with the low expression of CD39 in platelets. Besides, alteration of these enzymes activities suggests that the purinergic system could be involved in the thromboregulatory process in SCA patients.

  5. Long-term follow-up of kidney allografts in patients with sickle cell hemoglobinopathy Transplante renal na anemia falciforme

    Directory of Open Access Journals (Sweden)

    João R. Friedrisch

    2003-06-01

    Full Text Available Although sickle cell anemia and sickle cell disease produce a variety of functional renal abnormalities they uncommonly cause end stage renal failure. Renal transplantation has been a successful alternative for the treatment of the rare terminal chronic renal failure with outcomes comparable with non-sickle recipients. This approach, however, has not been often described on patients with renal failure associated with SC hemoglobinopathy. Here we report the outcomes of two patients with chronic renal failure due to SC hemoglobinopathies who underwent renal transplantation. At the time of the transplantation they were both severely anemic and had frequent vasoocclosive pain crises. Both patients evolved with good allograft function, near normal hematological parameters, and very rare pain crisis, thirteen and eight years after transplant. These cases illustrate that terminal renal failure due to SC hemoglobinopathy can be successfully managed by renal transplantation and satisfactory long-term results are achievable not only in terms of renal allograft function but also of their hematological condition.Embora a anemia falciforme e as síndromes falciformes freqüentemente causem várias alterações funcionais renais, não é comum a insuficiência renal terminal. Nestes casos, o transplante renal é uma alternativa que se acompanha de resultados comparáveis aos obtidos em receptores sem hemoglobinopatias. Esta estratégia terapêutica tem sido, no entanto, pouco relatada para portadores de hemoglobinopatia SC. Este relato descreve a evolução de dois pacientes portadores de hemoglobinopatia SC que foram submetidos ao transplante renal. No momento do transplante ambos apresentavam severa anemia e crises dolorosas freqüentes. Os pacientes evoluíram com boa função do enxerto, parâmetros hematológicos quase normais e praticamente assintomáticos do ponto de vista da hemoglobinopatia, treze e oito anos após o transplante. Estes casos ilustram

  6. Effect of beta-globin gene cluster haplotype on the hematological and clinical features of sickle cell anemia.

    Science.gov (United States)

    Rieder, R F; Safaya, S; Gillette, P; Fryd, S; Hsu, H; Adams, J G; Steinberg, M H

    1991-03-01

    In 113 black American adults with sickle cell anemia (HbSS), we examined nine polymorphic restriction sites, including the Xmnl site 5' to the G gamma gene, to see whether haplotype is related to the level of HbF and the proportion of G gamma chains or if it influences the hematological and clinical features of the disease. Seventy-five percent of the patients were homozygous or heterozygous for the Benin (no. 19) or Central African Republic (Bantu, no. 20) haplotypes; 13.3% were homozygous or heterozygous for the Senegal (no. 3) haplotype, while 11.5% had other genotypes. Of the subjects, 14.2% were either homozygous or heterozygous for the Xmnl restriction site 5' to the G gamma gene. We found no effect of haplotype on HbF levels. The level of G gamma chains was 60.5% +/- 17.0% in individuals heterozygous or homozygous for haplotype no. 3 and was 46.9% +/- 11.6% in individuals with other haplotypes. Subjects with the Xmnl site 5' to the G gamma gene had G gamma globin levels of 59.5% +/- 16.7% while those lacking that site had an average of 47.2% +/- 12.1%. There were no significant differences among these groups in hemoglobin concentration, packed cell volume, mean cell volume, or clinical indicators of vaso-occlusive severity, including crises, hospitalizations per year, aseptic bone necrosis, acute chest syndrome, or leg ulcers. While the presence of haplotype 3 and the 5' G gamma Xmnl site were associated with increased G gamma chains, there was no effect on HbF level or other hematological and clinical features that might reflect disease severity. It is likely that determinants unrelated to haplotype, linked or unlinked to the beta-globin gene cluster, are the major effectors of differences in the levels of HbF in American patients with sickle cell anemia.

  7. Sickle Cell Trait in Blacks Can Skew Diabetes Test Results

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_163463.html Sickle Cell Trait in Blacks Can Skew Diabetes Test Results ... less accurate in black people who have the sickle cell anemia trait, a new study says. The test ...

  8. Hydroxycarbamide modulates components involved in the regulation of adenosine levels in blood cells from sickle-cell anemia patients.

    Science.gov (United States)

    Silva-Pinto, Ana C; Dias-Carlos, Carolina; Saldanha-Araujo, Felipe; Ferreira, Flávia I S; Palma, Patrícia V B; Araujo, Amélia G; Queiroz, Regina H C; Elion, Jacques; Covas, Dimas T; Zago, Marco A; Panepucci, Rodrigo A

    2014-09-01

    Recent studies have demonstrated the role of adenosine (ADO) in sickle-cell anemia (SCA). ADO is produced by CD39 and CD73 and converted to inosine by adenosine deaminase (ADA). We evaluated the effects of hydroxycarbamide (HU) treatment on the modulation of adenosine levels in SCA patients. The expressions of CD39, CD73, and CD26 were evaluated by flow cytometry on blood cells in 15 HU-treated and 17 untreated patients and 10 healthy individuals. RNA was extracted from monocytes, and ADA gene expression was quantified by real-time PCR. ADA activity was also evaluated. We found that ADA transcripts were two times higher in monocytes of HU-treated patients, compared with untreated (P = 0.039). Monocytes of HU-treated patients expressed CD26, while monocytes of controls and untreated patients did not (P = 0.023). In treated patients, a lower percentage of T lymphocytes expressed CD39 compared with untreated (P = 0.003), and the percentage of T regulatory (Treg) cells was reduced in the treated group compared with untreated (P = 0.017) and controls (P = 0.0009). Besides, HU-treated patients displayed increased ADA activity, compared with untreated. Our results indicate a novel mechanism of action of HU mediated by the reduction of adenosine levels and its effects on pathophysiological processes in SCA.

  9. Anaplastic Ependymoma in a Child With Sickle Cell Anemia: A Case Report Highlighting Treatment Challenges for Young Children With Central Nervous System Tumors and Underlying Vasculopathy.

    Science.gov (United States)

    Crotty, Erin E; Meier, Emily R; Wells, Elizabeth M; Hwang, Eugene I; Packer, Roger J

    2016-03-01

    A 3-year-old boy with sickle cell anemia (SCA) presented with progressive daily emesis and was found to have an anaplastic ependymoma. Radiation therapy and chemotherapy are usually employed after subtotal resections of anaplastic ependymomas, although the benefits from chemotherapy are unclear. To mitigate the risks of adjuvant treatment in this patient at risk for SCA-associated vasculopathy, renal impairment, and other end-organ damage, proton beam irradiation without chemotherapy was chosen. Scheduled packed red blood cell transfusions were instituted to maintain sickle hemoglobin levels less than 30%. This case highlights treatment complexities for malignant brain tumors in patients predisposed to treatment-related adverse effects.

  10. Association between baseline fetal hemoglobin levels and incidence of severe vaso-occlusive pain episodes in children with sickle cell anemia.

    Science.gov (United States)

    Bhatnagar, Pallav; Keefer, Jeffrey R; Casella, James F; Barron-Casella, Emily A; Bean, Christopher J; Hooper, Craig W; Payne, Amanda B; Arking, Dan E; Debaun, Michael R

    2013-10-01

    The ameliorating effect of high fetal hemoglobin (HbF) levels on the incidence of pain episodes in sickle cell anemia (SCA) is well-known; however, in children this relationship is less clearly established. We hypothesized that higher HbF levels in children with SCA are associated with fewer severe pain episodes. A meta-analysis of data from the Silent Infarct Transfusion Trial (n = 456) and the Cooperative Study of Sickle Cell Disease (n = 764), demonstrated that baseline HbF levels were associated with the incidence of severe pain, commonly defined across studies as an event requiring hospitalization (P-value = 0.02).

  11. Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia.

    Directory of Open Access Journals (Sweden)

    Vivien A Sheehan

    Full Text Available Hydroxyurea has proven efficacy in children and adults with sickle cell anemia (SCA, but with considerable inter-individual variability in the amount of fetal hemoglobin (HbF produced. Sibling and twin studies indicate that some of that drug response variation is heritable. To test the hypothesis that genetic modifiers influence pharmacological induction of HbF, we investigated phenotype-genotype associations using whole exome sequencing of children with SCA treated prospectively with hydroxyurea to maximum tolerated dose (MTD. We analyzed 171 unrelated patients enrolled in two prospective clinical trials, all treated with dose escalation to MTD. We examined two MTD drug response phenotypes: HbF (final %HbF minus baseline %HbF, and final %HbF. Analyzing individual genetic variants, we identified multiple low frequency and common variants associated with HbF induction by hydroxyurea. A validation cohort of 130 pediatric sickle cell patients treated to MTD with hydroxyurea was genotyped for 13 non-synonymous variants with the strongest association with HbF response to hydroxyurea in the discovery cohort. A coding variant in Spalt-like transcription factor, or SALL2, was associated with higher final HbF in this second independent replication sample and SALL2 represents an outstanding novel candidate gene for further investigation. These findings may help focus future functional studies and provide new insights into the pharmacological HbF upregulation by hydroxyurea in patients with SCA.

  12. The Role of Inspiratory Muscle Training in Sickle Cell Anemia Related Pulmonary Damage due to Recurrent Acute Chest Syndrome Attacks

    Directory of Open Access Journals (Sweden)

    Burcu Camcıoğlu

    2015-01-01

    Full Text Available Background. The sickling of red blood cells causes a constellation of musculoskeletal, cardiovascular, and pulmonary manifestations. A 32-year-old gentleman with sickle cell anemia (SCA had been suffering from recurrent acute chest syndrome (ACS. Aim. To examine the effects of inspiratory muscle training (IMT on pulmonary functions, respiratory and peripheral muscle strength, functional exercise capacity, and quality of life in this patient with SCA. Methods. Functional exercise capacity was evaluated using six-minute walk test, respiratory muscle strength using mouth pressure device, hand grip strength using hand-held dynamometer, pain using Visual Analogue Scale, fatigue using Fatigue Severity Scale, dyspnea using Modified Medical Research Council Scale, and health related quality of life using European Organization for Research and Treatment of Cancer QOL measurement. Results. A significant improvement has been demonstrated in respiratory muscle strength, functional exercise capacity, pain, fatigue, dyspnea, and quality of life. There was no admission to emergency department due to acute chest syndrome in the following 12 months after commencing regular erythrocytapheresis. Conclusion. This is the first report demonstrating the beneficial effects of inspiratory muscle training on functional exercise capacity, respiratory muscle strength, pain, fatigue, dyspnea, and quality of life in a patient with recurrent ACS.

  13. Development of myelodysplastic syndrome and acute myeloid leukemia 15 years after hydroxyurea use in a patient with sickle cell anemia.

    Science.gov (United States)

    Baz, Walid; Najfeld, Vesna; Yotsuya, Matthew; Talwar, Jotica; Terjanian, Terenig; Forte, Frank

    2012-01-01

    We report a 41 year old male with sickle cell disease who developed a myelodysplastic syndrome and acute myeloid leukemia with complex karyotype involving chromosomes 5, 7 and 17 after 15 years of hydroxyurea treatment. He responded poorly to induction chemotherapy with cytarabine/idarubicin followed by high dose cytarabine and succumbed to neutropenic sepsis. Multiple systematic reviews, observational studies and clinical trials were conducted to identify the toxicity profile of hydroxurea. Only six cases of leukemia/myelodysplastic syndrome were identified in patients with sickle cell anemia treated with hydroxyurea. Subsequently, it was concluded that hydroxyurea is not leukemogenic. However, it was noted that most of the published studies had only up to 9 years of follow-up. Our patient was started on hydroxyurea in 1990, before the widespread use of the drug and took hydroxyurea for 15 years. His presentation may reflect an outcome otherwise not yet observed because of the short follow-up of prior studies. We believe that the leukemogenic risk of hydroxyurea should be discussed with the patients and their families. Studies evaluating the adverse effects of hydroxyurea should have longer follow-up before definitive conclusions are drawn.

  14. 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.

  15. Determination of β haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil.

    Science.gov (United States)

    Cabral, Cynthia Hatsue Kitayama; Serafim, Edvis Santos Soares; de Medeiros, Waleska Rayane Dantas Bezerra; de Medeiros Fernandes, Thales Allyrio Araújo; Kimura, Elza Miyuki; Costa, Fernando Ferreira; de Fátima Sonati, Maria; Rebecchi, Ivanise Marina Moretti; de Medeiros, Tereza Maria Dantas

    2011-07-01

    β(S) haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte.

  16. Determination of Cu/Zn and Fe in human serum of patients with sickle cell anemia using radiation synchrotron

    Energy Technology Data Exchange (ETDEWEB)

    Canellas, C.G.L. [Nuclear Instrumentation Laboratory, COPPE/UFRJ, P.O. Box 68509, 21.941-972 Rio de Janeiro (Brazil); Carvalho, S.M.F. [State Institute of Hematology Arthur de Siqueira Cavalcanti, 20.211-030 Rio de Janeiro (Brazil); Anjos, M.J. [Nuclear Instrumentation Laboratory, COPPE/UFRJ, P.O. Box 68509, 21.941-972 Rio de Janeiro (Brazil); Physics Institute, State University of Rio de Janeiro, 20.559-900 Rio de Janeiro (Brazil); Lopes, R.T., E-mail: ricardo@lin.ufrj.br [Nuclear Instrumentation Laboratory, COPPE/UFRJ, P.O. Box 68509, 21.941-972 Rio de Janeiro (Brazil)

    2012-07-15

    In this work we analyzed serum samples from patients with Sickle Cell Anemia (SCA) using Total Reflection X-Ray Fluorescence using Synchrotron Radiation (SRTXRF). The SRTXRF measurements were performed at the X-Ray Fluorescence Beamline at the Brazilian National Synchrotron Light Laboratory (LNLS). We studied forty-three patients aged 18-50 suffering from SCA and sixty healthy volunteers aged 18-60. It was possible to determine the concentrations of the following elements: P, S, Cl, K, Ca, Fe, Cu, Zn, Br and Rb. Moreover, there are evidences of an association among Fe, Cu, Zn and Cu/Zn in the SCA pathogenesis process. The concentrations of Fe and Cu in the serum samples of patients with SCA were larger, 120% and 20%, respectively, when compared with the CG. The serum level Cu/Zn ratio was significantly higher (60%) in the serum samples from patients suffering from SCA than from the CG. Therefore, the Cu/Zn ratio can be used as an adjuvant index in enhancement for diagnosis of SCA. - Highlights: Black-Right-Pointing-Pointer Serum samples from patients with Sickle Cell Anemia (SCA) were analyzed by SRTXRF. Black-Right-Pointing-Pointer It was possible to determine the concentrations of the P, S, Cl, K, Ca, Fe, Cu, Zn, Br and Rb. Black-Right-Pointing-Pointer There are evidences of an association among Fe, Cu, Zn and Cu/Zn in the SCA process. Black-Right-Pointing-Pointer The results indicate that the Cu/Zn ratio can be used as an adjuvant index for diagnosis of SCA.

  17. Promoter region sequence differences in the A and G gamma globin genes of Brazilian sickle cell anemia patients

    Directory of Open Access Journals (Sweden)

    C.G. Barbosa

    2010-08-01

    Full Text Available Fetal hemoglobin (HbF, encoded by the HBG2 and HBG1 genes, is the best-known genetic modulator of sickle cell anemia, varying dramatically in concentration in the blood of these patients. This variation is partially associated with polymorphisms located in the promoter region of the HBG2 and HBG1 genes. In order to explore known and unknown polymorphisms in these genes, the sequences of their promoter regions were screened in sickle cell anemia patients and correlated with both their HbF levels and their βS-globin haplotypes. Additionally, the sequences were compared with genes from 2 healthy groups, a reference one (N = 104 and an Afro-descendant one (N = 98, to identify polymorphisms linked to the ethnic background.The reference group was composed by healthy individuals from the general population. Four polymorphisms were identified in the promoter region of HBG2 and 8 in the promoter region of HBG1 among the studied groups. Four novel single nucleotide polymorphisms (SNP located at positions -324, -317, -309 and -307 were identified in the reference group. A deletion located between -396 and -391 in the HBG2 promoter region and the SNP -271 C→T in the HBG1 promoter region were associated with the Central African Republic βS-globin haplotype. In contrast, the -369 C→G and 309 A→G SNPs in the HBG2 promoter region were correlated to the Benin haplotype. The polymorphisms -396_-391 del HBG2, -369 SNP HBG2 and -271 SNP HBG1 correlated with HbF levels. Hence, we suggest an important role of HBG2 and HBG1 gene polymorphisms on the HbF synthesis.

  18. Promoter region sequence differences in the A and G gamma globin genes of Brazilian sickle cell anemia patients.

    Science.gov (United States)

    Barbosa, C G; Goncalves-Santos, N J; Souza-Ribeiro, S B; Moura-Neto, J P; Takahashi, D; Silva, D O; Hurtado-Guerrero, A F; Reis, M G; Goncalves, M S

    2010-08-01

    Fetal hemoglobin (HbF), encoded by the HBG2 and HBG1 genes, is the best-known genetic modulator of sickle cell anemia, varying dramatically in concentration in the blood of these patients. This variation is partially associated with polymorphisms located in the promoter region of the HBG2 and HBG1 genes. In order to explore known and unknown polymorphisms in these genes, the sequences of their promoter regions were screened in sickle cell anemia patients and correlated with both their HbF levels and their betaS-globin haplotypes. Additionally, the sequences were compared with genes from 2 healthy groups, a reference one (N = 104) and an Afro-descendant one (N = 98), to identify polymorphisms linked to the ethnic background.The reference group was composed by healthy individuals from the general population. Four polymorphisms were identified in the promoter region of HBG2 and 8 in the promoter region of HBG1 among the studied groups. Four novel single nucleotide polymorphisms (SNP) located at positions -324, -317, -309 and -307 were identified in the reference group. A deletion located between -396 and -391 in the HBG2 promoter region and the SNP -271 C-->T in the HBG1 promoter region were associated with the Central African Republic betaS-globin haplotype. In contrast, the -369 C-->G and 309 A-->G SNPs in the HBG2 promoter region were correlated to the Benin haplotype. The polymorphisms -396_-391 del HBG2, -369 SNP HBG2 and -271 SNP HBG1 correlated with HbF levels. Hence, we suggest an important role of HBG2 and HBG1 gene polymorphisms on the HbF synthesis.

  19. Transplante de células-tronco hematopoéticas (TCTH em doenças falciformes Hematopoietic stem cell transplantation in sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Fabiano Pieroni

    2007-09-01

    Full Text Available O único tratamento curativo para pacientes com doença falciforme é o transplante de células tronco hematopoéticas (TCTH. Neste artigo sumarizamos os resultados do TCTH em pacientes falciformes publicados na literatura e a experiência brasileira. As indicações atuais para o TCTH nestes pacientes serão discutidas.The only curative treatment approach for patients with sickle cell anemia is allogeneic stem cell transplantation. In this article we will review the published data about stem cell transplantation in patients with sickle cell disease and the small Brazilian experience in this field. The possible indications for stem cell patients will be discussed.

  20. Septic arthritis of the hips in adults with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Alexandre Poignard

    2011-01-01

    Full Text Available Although the presence of osteonecrotic bone is known to make joints more prone to infection, acute septic joint in hip osteonecrosis has not frequently been reported in adults with sickle cell disease. The clinical features at the time of admission, imaging findings suggesting the diagnosis, modes of treatment and sequelae of septic arthritis of twenty-four hip joints with osteonecrosis in patients with sickle cell disease were studied retrospectively over a 25-years period. This study evaluated also the complications, the efficiency and the risk of total hip arthroplasty in these patients. Most patients were in the third decade of life. Staphylococcus and Gram negative infection predominated. Treatment was first conservative but most of the patients needed surgery to treat infection and sequelae related to infection. A total hip arthroplasty was performed later in twenty joints. No deaths were observed, but complications occurred. Twenty of the patients in our study underwent delayed total hip arthroplasties following repeated aspirations of the joint and intravenous antibiotics. With an experienced surgical and medical team and multidisciplinary management of these patients undergoing total hip arthroplasty after hip infection, our rate of complications was acceptable.

  1. Sickle Cell Disease (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Sickle Cell Disease KidsHealth > For Parents > Sickle Cell Disease Print ... healthy, and productive lives. A Closer Look at Sickle Cell Disease The different types of sickle cell disease ...

  2. Alpha-thalassemia is associated with a decreased occurrence and a delayed age-at-onset of albuminuria in sickle cell anemia patients.

    Science.gov (United States)

    Nebor, Danitza; Broquere, Cédric; Brudey, Karine; Mougenel, Danielle; Tarer, Vanessa; Connes, Philippe; Elion, Jacques; Romana, Marc

    2010-08-15

    The aim of this study was to identify possible risk factors for albuminuria, an early marker of sickle cell anemia (SCA) glomerulopathy, in a cohort of 189 SCA adult patients followed at the Sickle Cell Center of Guadeloupe, a French Caribbean island. Biological parameters obtained at baseline, alpha-globin gene status, and beta(S) haplotypes were compared in patients stratified accordingly to graded albuminuria. Abnormal albumin excretion rate was detected in half of the studied adult patients and macroalbuminuria occurred in 21.6%. Graded albuminuria was associated with advanced age (p=0.006), systolic blood pressure (p=0.031), and worsened anemia, i.e. low hemoglobin rate (pcell count (phaplotype. Our results strongly suggest a protective effect of alpha-thalassemia against glomerulopathy in SCA adult patients which could be related to a decreased hemolytic rate.

  3. Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients.

    OpenAIRE

    Labie, D; Pagnier, J.; Lapoumeroulie, C; Rouabhi, F; Dunda-Belkhodja, O; Chardin, P; Beldjord, C; Wajcman, H; Fabry, M E; Nagel, R L

    1985-01-01

    We have studied 42 homozygous beta-thalassemia patients from Algeria and 34 sickle cell anemia patients from Senegal and Benin, determining the relationship between haplotypes, Hb F, and G gamma-globin/A gamma-globin ratios. Populations selected have a high frequency of haplotype homozygotes because of consanguinity (Algeria) and geographic homogeneity (West Africa). We find in beta-thalassemia patients, that haplotype IX in haplotypic homozygotes and heterozygotes, haplotype III in heterozyg...

  4. Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia

    Science.gov (United States)

    Flanagan, Jonathan M.; Alvarez, Ofelia A.; Nelson, Stephen C.; Aygun, Banu; Nottage, Kerri A.; George, Alex; Roberts, Carla W.; Piccone, Connie M.; Howard, Thad A.; Davis, Barry R.; Ware, Russell E.

    2016-01-01

    Discovery and validation of genetic variants that influence disease severity in children with sickle cell anemia (SCA) could lead to early identification of high-risk patients, better screening strategies, and intervention with targeted and preventive therapy. We hypothesized that newly identified genetic risk factors for the general African American population could also impact laboratory biomarkers known to contribute to the clinical disease expression of SCA, including variants influencing the white blood cell count and the development of albuminuria and abnormal glomerular filtration rate. We first investigated candidate genetic polymorphisms in well-characterized SCA pediatric cohorts from three prospective NHLBI-supported clinical trials: HUSTLE, SWiTCH, and TWiTCH. We also performed whole exome sequencing to identify novel genetic variants, using both a discovery and a validation cohort. Among candidate genes, DARC rs2814778 polymorphism regulating Duffy antigen expression had a clear influence with significantly increased WBC and neutrophil counts, but did not affect the maximum tolerated dose of hydroxyurea therapy. The APOL1 G1 polymorphism, an identified risk factor for non-diabetic renal disease, was associated with albuminuria. Whole exome sequencing discovered several novel variants that maintained significance in the validation cohorts, including ZFHX4 polymorphisms affecting both the leukocyte and neutrophil counts, as well as AGGF1, CYP4B1, CUBN, TOR2A, PKD1L2, and CD163 variants affecting the glomerular filtration rate. The identification of robust, reliable, and reproducible genetic markers for disease severity in SCA remains elusive, but new genetic variants provide avenues for further validation and investigation. PMID:27711207

  5. Using the history of research on sickle-cell anemia to affect preservice teachers' conceptions of the nature of science

    Science.gov (United States)

    Howe, Eric M.

    Preservice elementary teachers enrolled in an elective biology course participated in an eight-class unit of instruction based on the history of research in understanding the disease sickle-cell anemia. Students were introduced to the disease as a "mystery" for them to solve, and subsequently developed an understanding of the disease from several disciplines in biology (e.g., genetics, ecology, evolution, molecular biology). The unit involved open-ended problems in which students examined evidence and developed explanations in a manner analogous to the reasoning used by Anthony C. Allison and his colleagues during the early to middle part of the twentieth century. Throughout the unit, students were challenged to explicitly and reflectively connect their work with the historical material to more general conclusions about aspects of the nature of science. These aspects included (a) the nature of scientific theories, (b) the tentative nature of science, (c) the difference between scientific theories and laws, (d) the validity of observational methods in science, and (e) the subjective (theory-laden) nature of science. The research measured students' pre- and post-instruction views by using both an open-ended survey (VNOS) and follow-up, semi-structured interviews. The results indicated that an appreciable number of students underwent a change or enrichment in their views for some of the nature of science aspects. Moreover, change or enrichment in students' views was directly attributable to their work in the sickle-cell unit as evidenced from the specific examples students articulated in their post-instruction responses in support of their more informed views. In general, the findings of this research lend empirical support to the value of having students actively recapitulate the history of science to improve their nature of science conceptions. This is facilitated when the lessons challenge students to explicitly and reflectively develop views of the nature of

  6. Sickle cell test

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/003666.htm Sickle cell test To use the sharing features on this page, please enable JavaScript. The sickle cell test looks for the abnormal hemoglobin in the ...

  7. Sickle Cell Tests

    Science.gov (United States)

    ... AACC products and services. Advertising & Sponsorship: Policy | Opportunities Sickle Cell Tests Share this page: Was this page helpful? ... else I should know? How is it used? Sickle cell tests are used to identify the presence of ...

  8. Sickle Cell Disease Quiz

    Science.gov (United States)

    ... Websites About Us Information For... Media Policy Makers Sickle Cell Disease Quiz Language: English Español (Spanish) Recommend on ... 1. True or False: Only African Americans get sickle cell disease. A True B False 2. True or ...

  9. Sickle Cell Trait

    Science.gov (United States)

    ... Websites About Us Information For... Media Policy Makers Sickle Cell Trait Language: English Español (Spanish) Recommend on Facebook ... pass the trait on to their children. How Sickle Cell Trait is Inherited If both parents have SCT, ...

  10. Sickle Cell Disease

    Science.gov (United States)

    ... About Us Overview of CDC’s work. Advancements in Sickle Cell Disease New supplement from the American Journal of Preventive Medicine describes the state of sickle cell disease related care in the United States. Read Supplement ...

  11. Relationship between antibiotic resistance and sickle cell anemia: preliminary evidence from a pediatric carriage study in Ghana

    Directory of Open Access Journals (Sweden)

    Donkor ES

    2013-07-01

    Full Text Available Eric S Donkor,1 Ebenezer Foster-Nyarko,2 Christabel C Enweronu-Laryea3 1Department of Microbiology, University of Ghana Medical School, Accra, Ghana; 2Department of Medical Laboratory Science, School of Allied Health Sciences, University of Ghana, Accra, Ghana; 3Department of Child Health, University of Ghana Medical School, Accra, GhanaBackground: Antibiotics are frequently used among people with sickle cell anemia (homozygous SS or HbSS disease, especially for prophylaxis. However, the relationship between antibiotic resistance and people with HbSS disease has not been adequately studied, especially in the developing world. The objectives of the study were (1 to compare antibiotic resistance patterns of nasal Staphylococcus aureus between children with HbSS disease and children without HbSS disease (healthy children and (2 to evaluate nasopharyngeal carriage of antibiotic-resistant Streptococcus pneumoniae among children with HbSS disease.Methods: This was a prospective cross-sectional study, and the subjects were children under 12 years old. Nasal swabs were collected from 50 children with HbSS disease and 50 children without HbSS disease. Nasopharyngeal swabs were collected from another group of 92 children with HbSS disease. The nasal and nasopharyngeal swabs were cultured for S. aureus and S. pneumoniae, respectively. Susceptibility testing was carried out on the S. aureus and S. pneumoniae isolates for various antibiotics, including penicillin, ampicillin, cefuroxime, erythromycin, cloxacillin, and cotrimoxazole.Results: The carriage rates of S. aureus among pediatric subjects with HbSS disease and those without HbSS disease were 48% and 50%, respectively (P > 0.05. S. pneumoniae carriage among the pediatric subjects with HbSS disease was 10%. Antibiotic resistance patterns of S. aureus carried by children with HbSS disease and children without HbSS disease were similar, and the S. aureus resistance rates were >40% for the various

  12. Reduced fitness and abnormal cardiopulmonary responses to maximal exercise testing in children and young adults with sickle cell anemia.

    Science.gov (United States)

    Liem, Robert I; Reddy, Madhuri; Pelligra, Stephanie A; Savant, Adrienne P; Fernhall, Bo; Rodeghier, Mark; Thompson, Alexis A

    2015-04-01

    Physiologic contributors to reduced exercise capacity in individuals with sickle cell anemia (SCA) are not well understood. The objective of this study was to characterize the cardiopulmonary response to maximal cardiopulmonary exercise testing (CPET) and determine factors associated with reduced exercise capacity among children and young adults with SCA. A cross-sectional cohort of 60 children and young adults (mean 15.1 ± 3.4 years) with hemoglobin SS or S/β(0) thalassemia and 30 matched controls (mean 14.6 ± 3.5 years) without SCA or sickle cell trait underwent maximal CPET by a graded, symptom-limited cycle ergometry protocol with breath-by-breath, gas exchange analysis. Compared to controls without SCA, subjects with SCA demonstrated significantly lower peak VO2 (26.9 ± 6.9 vs. 37.0 ± 9.2 mL/kg/min, P < 0.001). Subjects demonstrated slower oxygen uptake (ΔVO2/ΔWR, 9 ± 2 vs. 12 ± 2 mL/min/watt, P < 0.001) and lower oxygen pulse (ΔVO2/ΔHR, 12 ± 4 vs. 20 ± 7 mL/beat, P < 0.001) as well as reduced oxygen uptake efficiency (ΔVE/ΔVO2, 42 ± 8 vs. 32 ± 5, P < 0.001) and ventilation efficiency (ΔVE/ΔVCO2, 30.3 ± 3.7 vs. 27.3 ± 2.5, P < 0.001) during CPET. Peak VO2 remained significantly lower in subjects with SCA after adjusting for age, sex, body mass index (BMI), and hemoglobin, which were independent predictors of peak VO2 for subjects with SCA. In the largest study to date using maximal CPET in SCA, we demonstrate that children and young adults with SCA have reduced exercise capacity attributable to factors independent of anemia. Complex derangements in gas exchange and oxygen uptake during maximal exercise are common in this population.

  13. Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.

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    Siana Nkya Mtatiro

    Full Text Available BACKGROUND: Fetal hemoglobin (HbF is an important modulator of sickle cell disease (SCD. HbF has previously been shown to be affected by variants at three loci on chromosomes 2, 6 and 11, but it is likely that additional loci remain to be discovered. METHODS AND FINDINGS: We conducted a genome-wide association study (GWAS in 1,213 SCA (HbSS/HbSβ0 patients in Tanzania. Genotyping was done with Illumina Omni2.5 array and imputation using 1000 Genomes Phase I release data. Association with HbF was analysed using a linear mixed model to control for complex population structure within our study. We successfully replicated known associations for HbF near BCL11A and the HBS1L-MYB intergenic polymorphisms (HMIP, including multiple independent effects near BCL11A, consistent with previous reports. We observed eight additional associations with P<10(-6. These associations could not be replicated in a SCA population in the UK. CONCLUSIONS: This is the largest GWAS study in SCA in Africa. We have confirmed known associations and identified new genetic associations with HbF that require further replication in SCA populations in Africa.

  14. No fio da navalha: anemia falciforme, raça e as implicações no cuidado à saúde On the razor's edge: sickle cell anemia, race and the implications in health care

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    Josué Laguardia

    2006-04-01

    Full Text Available As propostas de políticas de saúde para a população negra têm uma história recente no cenário político brasileiro, com um destaque especial para o Programa Nacional de Anemia Falciforme (PAF. Esse programa é o resultado das ações políticas do movimento negro em prol do reconhecimento da anemia falciforme como uma doença prevalente na população negra brasileira. No seio dessa ação política foram elaborados discursos sobre a anemia falciforme que ressaltam, a partir de pressupostos biológicos e epidemiológicos, o caráter racial dessa doença. O propósito deste artigo é criticar tais pressupostos, enfatizando as implicações éticas decorrentes da racialização das doenças.The political propositions in health for the black population have a recent history in the Brazilian political setting, with a special highlight to the National Program on Sickle Cell Anemia. This program is an output of political actions launched by the black movement on behalf of the recognition of sickle cell anemia as prevalent disease among Brazilian black population. Discourses on the sickle cell anemia have been built in the core of that political action, stressing, based in biological and epidemiological assumptions, the racial character of this disease. The objective of this article is to criticize those assumptions, emphasizing the ethical implications of disease racialization.

  15. Diversidade clínica e laboratorial no haplótipo bantu da anemia falciforme Clinical and laboratorial diversity in the bantu haplotype of sickle cell anemia

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    Paulo J. M. S. Costa

    2006-03-01

    Full Text Available Muitos fatores são responsáveis pela diversidade de sintomas nos pacientes de anemia falciforme, entre eles: sexo, idade, haplótipos e nível de hemoglobina fetal. O objetivo deste estudo foi verificar a diversidade clínica e laboratorial dentro do haplótipo bantu. Realizou-se um estudo descritivo onde foram avaliados 18 crianças e adolescentes portadores de anemia falciforme e homozigóticos para o haplótipo bantu, relacionando sexo e idade com as características clínicas e laboratoriais, além de relacioná-las diretamente entre si. As amostras foram do tipo casuais simples. O tamanho da amostra teve uma variação de freqüência para o evento de 30% a 65% e nível de confiança de 99,9%. As análises estatísticas foram realizadas através do programa EPIINFO, versão 6.04b, com erro a de 5%. A faixa etária de 01 a 11 anos teve um maior número de infecções que a faixa de 12 a 19, além de níveis mais altos de hemoglobina fetal. Os valores do hematócrito foram maiores no sexo feminino. Níveis mais elevados de hemoglobina A2 foram relacionados com maior número de infecções, enquanto níveis mais elevados de hemo­globina fetal foram relacionados com maiores valores de hematócrito e menor número de crises álgicas/ano de acompanhamento. O número de transfusões/ano teve correlação positiva com o número de crises álgicas, de infecções e de inter­namentos. Este estudo sugere que há uma diversidade clínica e laboratorial dentro do haplótipo bantu e possivelmente está relacionado com o sexo, a idade e os níveis de hemoglobina fetal e A2 dos pacientes.Several factors have been identified as possibly being responsible for the diversity of sickle cell anemia patients’ symptoms, including gender, age, haplotypes and hemoglobin F levels. The aim of this paper is to verify the clinical and laboratorial diversity of the Bantu haplotype. A descriptive study was performed of eighteen children and adolescents with sickle

  16. Dental care provided to sickle cell anemia patients stratified by age: A population-based study in Northeastern Brazil

    Science.gov (United States)

    Costa, Cyrene Piazera Silva; Aires, Bárbara Tamires Cruz; Thomaz, Erika Bárbara Abreu Fonseca; Souza, Soraia de Fátima Carvalho

    2016-01-01

    Objective: To assess differences in the dental care provided to sickle cell anemia (SCA) patients depending on age. This retrospective study used secondary data from the dental records of the Center of Hematology and Hemotherapy in Maranhão (HEMOMAR). Materials and Methods: Data were obtained from 574 dental records of patients with SCA treated or under treatment in the Dental Department of HEMOMAR from 2000 to 2011. Data on the gender, age, duration of dental treatment, number of patients submitted to periodontal treatment (PT), number of filled teeth (FT), teeth extracted (EX), endodontically treated teeth (ET), and reason for the dental procedures were collected. The Kruskal–Wallis test together with Dunn's post hoc test, Chi-square test, and Spearman's correlation was used for statistical analysis. An alpha error of 5% was considered acceptable. Results: Significant differences were found for FT, EX (P dental caries (100%) and irreversible pulpitis (55.6%), respectively. The main reasons for teeth extractions were residual roots (21.3%), chronic apical periodontitis (19.7%), and crown destruction (19.3%). There were positive correlations between age and EX (r = 0.93; P = 0.025) and ET (r = 0.92; P = 0.028). Conclusions: FT, ET, EX, and PT procedures become more common in older patients. Tooth decay is the main reason for dental treatment in SCA patients. PMID:27403053

  17. Role of ERCP in the era of laparoscopic cholecystectomy for the evaluation of choledocholithiasis in sickle cell anemia

    Institute of Scientific and Technical Information of China (English)

    Hussain Issa; Ahmed H Al-Salem

    2011-01-01

    AIM: To evaluate the role of endoscopic retrograde cholangiopancreatography (ERCP) for choledocholithiasis in patients with sickle cell anemia (SCA) in the era of laparoscopic cholecystectomy (LC).METHODS: Two hundred and twenty four patients (144 male, 80 female; mean age, 22.4 years; range, 5-70 years) with SCA underwent ERCP as part of their evaluation for cholestatic jaundice (CJ).The indications for ERCP were: CJ only in 97, CJ and dilated bile ducts on ultrasound in 103, and CJ and common bile duct (CBD) stones on ultrasound in 42.RESULTS: In total, CBD stones were found in 88 (39.3%) patients and there was evidence of recent stone passage in 16.Fifteen were post-LC patients.These had endoscopic sphincterotomy and stone extraction.The remaining 73 had endoscopic sphincterotomy and stone extraction followed by LC without an intraoperative cholangiogram.CONCLUSION: In patients with SCA and cholelithiasis, ERCP is valuable whether preoperative or postoperative, and in none was there a need to perform intraoperative cholangiography.Sequential endoscopic sphincterotomy and stone extraction followed by LC is beneficial in these patients.Endoscopic sphincterotomy may also prove to be useful in these patients as it may prevent the future development of biliary sludge and bile duct stones.

  18. Health-related quality of life in children with sickle cell anemia: impact of blood transfusion therapy.

    Science.gov (United States)

    Beverung, Lauren M; Strouse, John J; Hulbert, Monica L; Neville, Kathleen; Liem, Robert I; Inusa, Baba; Fuh, Beng; King, Allison; Meier, Emily Riehm; Casella, James; DeBaun, Michael R; Panepinto, Julie A

    2015-02-01

    The completion of the Multicenter Silent Infarct Transfusion Trial demonstrated that children with pre-existing silent cerebral infarct and sickle cell anemia (SCA) who received regular blood transfusion therapy had a 58% relative risk reduction of infarct recurrence when compared to observation. However, the total benefit of blood transfusion therapy, as assessed by the parents, was not measured against the burden of monthly blood transfusion therapy. In this planned ancillary study, we tested the hypothesis that a patient centered outcome, health-related quality of life (HRQL), would be greater in participants randomly assigned to the blood transfusion therapy group than the observation group. A total of 89% (175 of 196) of the randomly allocated participants had evaluable entry and exit HRQL evaluations. The increase in Change in Health, measured as the child's health being better, was significantly greater for the transfusion group than the observation group (difference estimate = -0.54, P ≤ 0.001). This study provides the first evidence that children with SCA who received regular blood transfusion therapy felt better and had better overall HRQL than those who did not receive transfusion therapy.

  19. Genetic modifiers of sickle cell anemia in the BABY HUG cohort: influence on laboratory and clinical phenotypes.

    Science.gov (United States)

    Sheehan, Vivien A; Luo, Zhaoyu; Flanagan, Jonathan M; Howard, Thad A; Thompson, Bruce W; Wang, Winfred C; Kutlar, Abdullah; Ware, Russell E

    2013-07-01

    The recently completed BABY HUG trial investigated the safety and efficacy of hydroxyurea in infants with sickle cell anemia (SCA). To investigate the effects of known genetic modifiers, genomic DNA on 190 randomized subjects were analyzed for alpha thalassemia, beta-globin haplotype, polymorphisms affecting endogenous fetal hemoglobin (HbF) levels (XmnI, BCL11A, and HBS1L-MYB), UGT1A1 promoter polymorphisms, and the common G6PD A(-) mutation. At study entry, infants with alpha thalassemia trait had significantly lower mean corpuscular volume, total bilirubin, and absolute reticulocyte count. Beta-globin haplotypes associated with milder disease had significantly higher hemoglobin and %HbF. BCL11A and XmnI polymorphisms had significant effects on baseline HbF, while UGT1A1 promoter polymorphisms significantly influenced baseline serum bilirubin. At study exit, subjects randomized to placebo still exhibited laboratory effects of alpha thalassemia and other modifiers, while those assigned hydroxyurea had treatment effects that exceeded most genetic influences. The pain phenotype was influenced by HbF modifiers in both treatment groups. These data document that genetic polymorphisms do modify laboratory and clinical phenotypes even in very young patients with SCA. The hydroxyurea effects are more potent, however, indicating that treatment criteria should not be limited to certain genetic subsets, and supporting the use of hydroxyurea for all young patients with SCA.

  20. Evidence for HLA class II susceptible and protective haplotypes for osteomyelitis in pediatric patients with sickle cell anemia.

    Science.gov (United States)

    Al-Ola, K; Mahdi, N; Al-Subaie, A M; Ali, M E; Al-Absi, I K; Almawi, W Y

    2008-05-01

    We investigated the association of human leukocyte antigen (HLA) class II alleles and haplotypes with the pathogenesis of sickle cell anemia (SCA) osteomyelitis. SCA patients comprised 42 patients with osteomyelitis and 150 patients without osteomyelitis; HLA-DRB1* and HLA-DQB1* genotyping was performed by polymerase chain reaction-sequence-specific priming (SSP). DRB1*100101 (P value corrected for the number of different alleles tested, Pc=0.003) was positively associated with osteomyelitis. At the haplotype level, DRB1*100101-DQB1*050101 (Pc=0.001) was more prevalent among patients, while DRB1*030101-DQB1*0201 (Pc=0.020) and DRB1*040101-DQB1*0302 (Pc=0.039) were more prevalent among SCA controls, thereby conferring disease susceptibility or protection to these haplotypes, respectively. These results show that specific HLA haplotypes influence SCA osteomyelitis risk and that specific HLA types may serve as markers for identifying SCA patients at high risk for osteomyelitis.

  1. Hipertensão arterial pulmonar associada à anemia falciforme Sickle cell anemia-associated pulmonary arterial hypertension

    OpenAIRE

    Roberto Ferreira Pinto Machado

    2007-01-01

    A hipertensão pulmonar é uma complicação comum em pacientes com anemia falciforme. A despeito das elevações leves das pressões pulmonares desses pacientes, a morbimortalidade é alta e, em pacientes adultos com anemia falciforme, a hipertensão pulmonar é um fator de risco muito importante. A patogênese da hipertensão pulmonar relacionada à anemia falciforme é multifatorial e inclui hemólise, baixos níveis de óxido nítrico, hipóxia crônica, tromboembolismo, doença hepática crônica e asplenia. N...

  2. A anemia falciforme como problema de Saúde Pública no Brasil The sickle cell disease as a Public Health problem in Brazil

    Directory of Open Access Journals (Sweden)

    Roberto B. de Paiva e Silva

    1993-02-01

    Full Text Available Apesar de a anemia falciforme ser a doença hereditária de maior prevalência no Brasil, a literatura nacional carece de investigações a respeito dos seus aspectos de Saúde Pública. Investigou-se a realidade vivida por 80 pacientes adultos (49 mulheres e 31 homens com diagnóstico de anemia falciforme, seguidos regularmente em centro hematológico. O diagnóstico tardio da doença foi um dos principais aspectos detectados na casuística examinada. Observou-se que a problemática maior do paciente adulto com a anemia falciforme esta centrada nos aspectos econômicos, sobretudo na falta de oportunidades profissionais, apesar de os mesmos poderem participar do mercado de trabalho, desde que estejam recebendo tratamento médico adequado e exerçam funções compatíveis com as suas limitações e potencialidades. A orientação psicoterapêutica teve uma grande aceitação pelos pacientes, sem diferença significativa entre os sexos. Concluiu-se haver necessidade da implantação de programas comunitários de diagnóstico precoce e de orientação médica, social e psicológica dos doentes com a anemia falciforme no Brasil, bem como de aconselhamento genético não diretivo dos casais de heterozigotos com o traço falciforme.Sickle cell anemia is the most prevalent hereditary disease in Brazil. However, the Brazilian literature registers no investigations into the public health aspects of the disease. This present study investigates the way of life of 80 adult patients (49 women and 31 men with a diagnosis of sicklecell anemia, at a blood center in Brazil. The late diagnosis of the disease was one of the most significant aspects observed in this group of patients. It was also observed that the dominant problem faced by adult patients with sickle cell anemia is of an economic nature, mainly due to lack of professional opportunities. However, patients can well undertake economic activities under adequate medical supervision, according to their

  3. BetaS-haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil.

    Science.gov (United States)

    Gonçalves, M S; Bomfim, G C; Maciel, E; Cerqueira, I; Lyra, I; Zanette, A; Bomfim, G; Adorno, E V; Albuquerque, A L; Pontes, A; Dupuit, M F; Fernandes, G B; dos Reis, M G

    2003-10-01

    BetaS-Globin haplotypes were studied in 80 (160 betaS chromosomes) sickle cell disease patients from Salvador, Brazil, a city with a large population of African origin resulting from the slave trade from Western Africa, mainly from the Bay of Benin. Hematological and hemoglobin analyses were carried out by standard methods. The betaS-haplotypes were determined by PCR and dot-blot techniques. A total of 77 (48.1%) chromosomes were characterized as Central African Republic (CAR) haplotype, 73 (45.6%) as Benin (BEN), 1 (0.63%) as Senegal (SEN), and 9 (5.63%) as atypical (Atp). Genotype was CAR/CAR in 17 (21.3%) patients, BEN/BEN in 17 (21.3%), CAR/BEN in 37 (46.3%), BEN/SEN in 1 (1.25%), BEN/Atp in 1 (1.25%), CAR/Atp in 6 (7.5%), and Atp/Atp in 1 (1.25%). Hemoglobin concentrations and hematocrit values did not differ among genotype groups but were significantly higher in 25 patients presenting percent fetal hemoglobin (%HbF) > or = 10% (P = 0.002 and 0.003, respectively). The median HbF concentration was 7.54+/-4.342% for the CAR/CAR genotype, 9.88 3.558% for the BEN/BEN genotype, 8.146 4.631% for the CAR/BEN genotype, and 4.180+/-2.250% for the CAR/Atp genotype (P = 0.02), although 1 CAR/CAR individual presented an HbF concentration as high as 15%. In view of the ethnic and geographical origin of this population, we did not expect a Hardy-Weinberg equilibrium for CAR/CAR and BEN/BEN homozygous haplotypes and a high proportion of heterozygous CAR/BEN haplotypes since the State of Bahia historically received more slaves from Western Africa than from Central Africa.

  4. Sequestro esplênico agudo em coorte de crianças com anemia falciforme Acute splenic sequestration in a cohort of children with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Paulo V. Rezende

    2009-04-01

    Full Text Available OBJETIVO: Analisar o sequestro esplênico agudo (SEA em crianças com anemia falciforme, provindas da triagem neonatal de Minas Gerais e acompanhadas pelo Hemominas de Belo Horizonte (MG. MÉTODOS: Coorte retrospectiva de 255 crianças com hemoglobinopatia SS/Sβ0, nascidas entre 01/01/2000 e 31/12/2004 e acompanhadas até 31/12/2006. Os dados foram extraídos dos prontuários médicos. RESULTADOS: Oitenta e nove pacientes apresentaram 173 eventos de SEA (10,2 primeiros eventos por 100 pacientes/ano, sendo que 75% dos primeiros episódios de SEA ocorreram até 2 anos de vida. A probabilidade estimada de ocorrência do primeiro episódio de SEA foi de 40%. A recorrência atingiu 57,3%. Após o primeiro episódio de SEA, a esplenectomia foi indicada em apenas 12,4% dos casos; após o segundo, em 60,4% dos casos. Após o terceiro episódio, 41,7% dos casos ainda permaneceram sob observação clínica. A mediana do tempo entre indicação e realização da esplenectomia foi de 2 meses. Nesse intervalo, 37,2% das crianças tiveram novo episódio de SEA e uma delas faleceu. A letalidade no primeiro episódio foi de 1,1% e de 7,8% em episódios subsequentes. Entre as 255 crianças ocorreram 19 óbitos: 36,8% devido a infecções e 26,3% após SEA. CONCLUSÕES: O SEA é um evento comum na anemia falciforme, principalmente nos 2 primeiros anos de vida, com recidiva em mais da metade dos casos. Predominou conduta conservadora na indicação da esplenectomia. Embora a letalidade tenha sido baixa, o SEA representou a segunda causa de óbito. Isso aponta para fragilidades estruturais do sistema de saúde de MG e para a necessidade de melhor capacitação profissional na abordagem do problema.OBJECTIVE: To analyze acute splenic sequestration (ASS in children with sickle cell anemia diagnosed through a newborn screening program in the state of Minas Gerais, Brazil, and followed up at the hematology center in the city of Belo Horizonte, Minas Gerais, Brazil

  5. Hydroxyurea-Increased Fetal Hemoglobin Is Associated with Less Organ Damage and Longer Survival in Adults with Sickle Cell Anemia.

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    Courtney D Fitzhugh

    Full Text Available Adults with sickle cell anemia (HbSS are inconsistently treated with hydroxyurea.We retrospectively evaluated the effects of elevating fetal hemoglobin with hydroxyurea on organ damage and survival in patients enrolled in our screening study between 2001 and 2010.An electronic medical record facilitated development of a database for comparison of study parameters based on hydroxyurea exposure and dose. This study is registered with ClinicalTrials.gov, number NCT00011648.Three hundred eighty-three adults with homozygous sickle cell disease were analyzed with 59 deaths during study follow-up. Cox regression analysis revealed deceased subjects had more hepatic dysfunction (elevated alkaline phosphatase, Hazard Ratio = 1.005, 95% CI 1.003-1.006, p<0.0.0001, kidney dysfunction (elevated creatinine, Hazard Ratio = 1.13, 95% CI 1.00-1.27, p = 0.043, and cardiopulmonary dysfunction (elevated tricuspid jet velocity on echocardiogram, Hazard Ratio = 2.22, 1.23-4.02, p = 0.0082. Sixty-six percent of subjects were treated with hydroxyurea, although only 66% of those received a dose within the recommended therapeutic range. Hydroxyurea use was associated with improved survival (Hazard Ratio = 0.58, 95% CI 0.34-0.97, p = 0.040. This effect was most pronounced in those taking the recommended dose of 15-35 mg/kg/day (Hazard Ratio 0.36, 95% CI 0.17-0.73, p = 0.0050. Hydroxyurea use was not associated with changes in organ function over time. Further, subjects with higher fetal hemoglobin responses to hydroxyurea were more likely to survive (p = 0.0004. While alkaline phosphatase was lowest in patients with the best fetal hemoglobin response (95.4 versus 123.6, p = 0.0065 and 96.1 versus 113.6U/L, p = 0.041 at first and last visits, respectively, other markers of organ damage were not consistently improved over time in patients with the highest fetal hemoglobin levels.Our data suggest that adults should be treated with the maximum tolerated hydroxyurea dose

  6. Frequency and Risk Factors of Endocrine Complications in Turkish Children and Adolescents with Sickle Cell Anemia

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    Samim Özen

    2013-03-01

    Full Text Available Objective: To define frequency and risk factors of abnormalities in growth, puberty, thyroid function, and bone and carbohydrate metabolisms in children and adolescents with sickle cell disease (SCD. Materials and Methods: Endocrine problems including short stature, puberty and thyroid disorders, and carbohydrate and bone metabolisms in 50 Turkish children and adolescents with SCD were evaluated. Relationships among sex, disease type, blood transfusions, exchange and exacerbation frequency, ferritin levels, and endocrine pathologies were investigated. Results: The mean age of the study group was 13.1±2.9 years. Weights and heights of 12 participants (24% were below -2 standard deviations and 4 participants (8% had malnutrition. Mean difference (±standard deviation between bone and chronological age of patients was -1.73±1.86 years. Fifty percent of patients had at least one endocrine abnormality other than vitamin D deficiency and insufficiency. Hypergonadotropic hypogonadism in 3 patients (6%, hypogonadotropic hypogonadism in 1 female patient (2%, and small testicular volume in respect to age in 3 male patients (8.5% were seen. Growth hormone deficiency was detected in 1 (2% female patient, and hypothyroidism was diagnosed in 3 patients (6%; 1 central case, 2 cases of primary hypothyroidism. At vertebral level, 5 patients (11.1% had osteopenia and 1 patient (2.2% had osteoporosis, while 5 patients (11.1% had osteopenia at femur neck level. The most common endocrine abnormality was vitamin D deficiency. 25-Hydroxyvitamin D was deficient in 63.2% and insufficient in 18.4% of patients. Sex, disease type, blood transfusion frequency, exacerbation frequency, and ferritin levels were not related to endocrine pathologies. As the age was increased, standard deviation scores of femur neck bone mineral density was decreased (r =-0.56; p<0.05. Vitamin D was lower in patients whose weights and/or heights were below -2 standard deviations from the mean

  7. ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil

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    Gonçalves M.S.

    2003-01-01

    Full Text Available ßS-Globin haplotypes were studied in 80 (160 ßS chromosomes sickle cell disease patients from Salvador, Brazil, a city with a large population of African origin resulting from the slave trade from Western Africa, mainly from the Bay of Benin. Hematological and hemoglobin analyses were carried out by standard methods. The ßS-haplotypes were determined by PCR and dot-blot techniques. A total of 77 (48.1% chromosomes were characterized as Central African Republic (CAR haplotype, 73 (45.6% as Benin (BEN, 1 (0.63% as Senegal (SEN, and 9 (5.63% as atypical (Atp. Genotype was CAR/CAR in 17 (21.3% patients, BEN/BEN in 17 (21.3%, CAR/BEN in 37 (46.3%, BEN/SEN in 1 (1.25%, BEN/Atp in 1 (1.25%, CAR/Atp in 6 (7.5%, and Atp/Atp in 1 (1.25%. Hemoglobin concentrations and hematocrit values did not differ among genotype groups but were significantly higher in 25 patients presenting percent fetal hemoglobin (%HbF > or = 10% (P = 0.002 and 0.003, respectively. The median HbF concentration was 7.54 ± 4.342% for the CAR/CAR genotype, 9.88 ± 3.558% for the BEN/BEN genotype, 8.146 ± 4.631% for the CAR/BEN genotype, and 4.180 ± 2.250% for the CAR/Atp genotype (P = 0.02, although 1 CAR/CAR individual presented an HbF concentration as high as 15%. In view of the ethnic and geographical origin of this population, we did not expect a Hardy-Weinberg equilibrium for CAR/CAR and BEN/BEN homozygous haplotypes and a high proportion of heterozygous CAR/BEN haplotypes since the State of Bahia historically received more slaves from Western Africa than from Central Africa.

  8. [Infections in Senegalese children and adolescents with sickle cell anemia: epidemiological aspects].

    Science.gov (United States)

    Diagne, I; Soares, G M; Gueye, A; Diagne-Gueye, N R; Fall, L; N'Diaye, O; Camara, B; Diouf, S; Fall, M

    2000-01-01

    Infection is the main factor of morbidity and mortality in children with sickle cell disease (SCD). The objective of this study is to determine it's epidemiologic outline in senegalese children and adolescents with SCD. We retrospectively studied infection data in all the charts of a cohort of 323 patients with SCD (307 SS, 13 SC and 3 s beta + thalassemia) followed at Albert Royer children hospital from january 1991 to december 1997. Serum sampling was systematically made for HIV and antigen HBs serology in all patients we received in the last 3 months (october to december 1997). Patients were aged from 5 months to 22 years (medium age = 8 years). 813 infection episodes were diagnosed, concerning 184 patients (56 per cent). SS patients were more affected (59 per cent) than the others (23 per cent, p = 0.04). ENT and broncho-pulmonary onsets were more frequent but had a generally benign course. Menigitidis, septicemia and osteomyelitis were exclusively diagnosed in SS patients. Their prevalences in this group were respectively: 1.0 per cent, 4.9 per cent and 9.8 per cent. HIV serology was determined in 155 patients, including 41 per cent with blood transfusion antecedents. All tests were negative. HBs antigen was determined in 104 patients and seroprevalence was 7.7 per cent in the whole group and 6.0 per cent in patients with transfusion antecedents and 7.7 per cent for the others. Plasmodium falciparum malaria onset was observed in 9.6 per cent of our patients and there was no case of cerebral malaria. Infection was involved in 9 of the 11 cases of death. Then infection constitute the major problem in children and adolescents with SCD in Dakar. However prevalences of severe onsets are comparable to data in Europe despite our poor follow up conditions. Senegal haplotype may lead to a good tolerance of SCD. Negative HIV serology and low HBs antigen seroprevalence in transfused patients are attributed to a relatively low level of HIV prevalence in the general

  9. What is Sickle Cell Disease?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is Sickle Cell Disease? Español The term sickle cell disease (SCD) ... other common forms of SCD. Some Forms of Sickle Cell Disease Hemoglobin SS Hemoglobin SC Hemoglobin Sβ 0 thalassemia ...

  10. What Causes Sickle Cell Disease?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Sickle Cell Disease? Abnormal hemoglobin, called hemoglobin S , causes sickle cell ... way that hemoglobin works. ( See Overview. ) How Is Sickle Cell Disease Inherited? When the hemoglobin S gene is inherited ...

  11. Learning about Sickle Cell Disease

    Science.gov (United States)

    ... genetic terms used on this page Learning About Sickle Cell Disease What do we know about heredity and ... Information What do we know about heredity and sickle cell disease? Sickle cell disease is the most common ...

  12. Original Research: Sickle cell anemia and pediatric strokes: Computational fluid dynamics analysis in the middle cerebral artery.

    Science.gov (United States)

    Rivera, Christian P; Veneziani, Alessandro; Ware, Russell E; Platt, Manu O

    2016-04-01

    Children with sickle cell anemia (SCA) have a high incidence of strokes, and transcranial Doppler (TCD) identifies at-risk patients by measuring blood velocities in large intracerebral arteries; time-averaged mean velocities greater than 200 cm/s confer high stroke risk and warrant therapeutic intervention with blood transfusions. Our objective was to use computational fluid dynamics to alter fluid and artery wall properties, to simulate scenarios causative of significantly elevated arterial blood velocities. Two-dimensional simulations were created and increasing percent stenoses were created in silico, with their locations varied among middle cerebral artery (MCA), internal carotid artery (ICA), and anterior cerebral artery (ACA). Stenoses placed in the MCA, ICA, or ACA generated local increases in velocity, but not sufficient to reach magnitudes > 200 cm/s, even up to 75% stenosis. Three-dimensional reconstructions of the MCA, ICA, and ACA from children with SCA were generated from magnetic resonance angiograms. Using finite element method, blood flow was simulated with realistic velocity waveforms to the ICA inlet. Three-dimensional reconstructions revealed an uneven, internal arterial wall surface in children with SCA and higher mean velocities in the MCA up to 145 cm/s compared to non-SCA reconstructions. There were also greater areas of flow recirculation and larger regions of low wall shear stress. Taken together, these bumps on the internal wall of the cerebral arteries could create local flow disturbances that, in aggregate, could elevate blood velocities in SCA. Identifying cellular causes of these microstructures as adhered blood cells or luminal narrowing due to endothelial hyperplasia induced by disturbed flow would provide new targets to treat children with SCA. The preliminary qualitative results provided here point out the critical role of 3D reconstruction of patient-specific vascular geometries and provide qualitative insight to complex

  13. Pain frequency, severity and QT dispersion in adult patients with sickle cell anemia: correlation with inflammatory markers

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    Garadah TS

    2016-10-01

    Full Text Available Taysir S Garadah,1,2 Ahmed A Jaradat,2 Mohammed E AlAlawi,1 Adla B Hassan,1 Reginald P Sequeira2 1Salmanyia Medical Complex, Ministry of Health, 2College of Medicine and Medical Sciences, Arabian Gulf University, Manama, Kingdom of Bahrain Background: Inflammatory markers are increased during vaso-occlusive crisis (VOC in adult patients with sickle cell anemia (SCA, but this is not clear in clinical steady state. Aim: The present study aims to establish the frequency and intensity of bone pain episodes in adult patients with SCA in clinical steady state and to determine the correlation between different inflammatory markers, other variables including QT dispersion (QTd and pain frequency and intensity in SCA. Patients and methods: Patients were classified into two groups: group 1, those with more than three hospital admissions in the last 6 months, and group 2, those with no hospital admission. Pearson correlation between variables such as body mass index (BMI, level of tumor necrosis factor (TNF-α, interleukin-1 (IL-1, C-reactive protein (CRP, hemoglobin (Hb, reticulocyte count, white blood cell count (WBC, ferritin, lactate dehydrogenase (LDH, parathormone (PTH, vitamin D3 (25-OH cholecalciferol and bone pain frequency with severity was evaluated. Results: Forty-six patients were enrolled in this study with a mean age of 18.47±5.78 years, with 23 patients in each group. Vitamin D3 and Hb were lower (17.04±5.77 vs 37.59±4.83 ng/L, P<0.01 and 7.96±0.3 vs 8.44±0.27 g/dL, P<0.01, respectively; the inflammatory markers showed significantly higher level of TNF-α, IL-1 and CRP (56.52±5.43 pg/ml, 44.17±4.54 pg/ml and 3.20±0.72 mg/L, respectively, P<0.05; WBC, LDH and reticulocyte count were also significantly higher and the QTd was higher (45.0±2.22 vs 41.55±0.8 ms, P<0.05 in group 1 when compared with group 2. Pearson correlation coefficient showed significant positive correlation between serum level of TNF-α and bone pain frequency

  14. A multidisciplinary approach to the management of temporomandibular joint ankylosis in a sickle-cell anemia patient in a resource-limited setting.

    Science.gov (United States)

    Braimah, Ramat Oyebunmi; Oladejo, Taoreed; Olarinoye, Timothy Oyetunde; Adetoye, Adedapo Omowonuola; Osho, Patrick Olanrewaju

    2016-01-01

    This report describes the multidisciplinary management of a 35-year-old female sickle-cell anemia patient who had unilateral bony ankylosis of the left temporomandibular joint secondary to septic arthritis. She was managed by a team comprising of maxillofacial surgeons, anesthetists, otorhinolaryngologist, and hematologist. Unilateral left interpositional arthroplasty and ipsilateral coronoidectomy through a postrami approach were done and followed by aggressive jaw physiotherapy in the postsurgical period. No perioperative morbidity was encountered. Mouth opening of 3.5 cm was achieved and maintained 7 months after surgery. Challenges and rationale for the use of a multidisciplinary team approach in treatment of such cases were discussed.

  15. THE EDUCATION AND ENVIROMENT AS KEY FACTORS IN NURSING CARE TO CLIENTS WITH SICKLE CELL ANEMIA

    Directory of Open Access Journals (Sweden)

    Priscila Sanchez Bosco

    2012-01-01

    Full Text Available Objetivos: objetivos levantar informações atualizadas acerca das novas concepções sobre o cuidado de Enfermagem para clientes portadores de anemias hemolíticas e discutir as novas concepções acerca do cuidado de Enfermagem para os clientes portadores de anemias hemolíticas. Métodos: O presente estudo foi extraído de um projeto de pesquisa que tem como tema as novas concepções acerca do cuidado de Enfermagem para o cliente portador de anemias hemolíticas crônicas. Foi desenvolvido no ano de 2008 como parte do projeto de pesquisa da Universidade Federal do Estado do Rio de Janeiro. Foram utilizados como fontes, bases de dados eletrônicos além de levantamento junto às bibliotecas tradicionais. Resultados: Durante a coleta de dados foram levantados: 36 ARTIGOS “ON LINE”; 10 oriundos de BIBLIOTECAS CONVENCIONAIS e 4 DISSERTAÇÕES E 1 TESE. Conclusão: Conclui-se que o meio ambiente exerce força sobre estes clientes e que os enfermeiros podem utilizar-se de estratégias educacionais para que tanto estes clientes consigam conviver com a anemia falciforme de forma mais harmônica, sem o medo e a angústia que, geralmente se mostram presentes.

  16. Prevalência do traço e da anemia falciforme em recém-nascidos do Distrito Federal, Brasil, 2004 a 2006 Prevalence of sickle cell trait and sickle cell anemia among newborns in the Federal District, Brazil, 2004 to 2006

    Directory of Open Access Journals (Sweden)

    Debora Diniz

    2009-01-01

    Full Text Available Para determinar a prevalência da anemia e traço falciforme em recém-nascidos no Distrito Federal, Brasil, no período de 2004 a 2006, foi realizado um estudo seccional de prevalência. Foram utilizados os registros dos resultados de testes realizados de 2004 a 2006 pelo Programa de Triagem Neonatal da Secretaria de Estado de Saúde do Distrito Federal, e calculados os coeficientes de prevalência. As amostras de sangue dos recém-nascidos foram analisadas pela técnica de focalização isoelétrica. No período de 1º de janeiro de 2004 a 31 de dezembro de 2006, foram realizados 116.271 testes de triagem neonatal para hemoglobinopatias, correspondendo a 85% do número de nascidos vivos de mães residentes no Distrito Federal. Foram identificados, nos três anos, 3.760 recém-nascidos, com traço falciforme (Hb AS e 109 com anemia falciforme (Hb SS. Os coeficientes de prevalência foram, respectivamente, 323 (Hb AS e 9 (Hb SS por 10 mil nascidos vivos. A elevada prevalência do traço falciforme evidencia a importância da triagem neonatal no Distrito Federal para atuação de gestores e profissionais da saúde no planejamento de ações educativas e na redução da morbidade associada às doenças falciformes.To determine the prevalence of sickle cell trait and sickle cell anemia among newborns in the Federal District, Brazil, a cross-sectional prevalence study covering the years 2004 to 2006 was conducted. Test results reported from the Neonatal Screening Program in the Federal District Health Department from 2004 to 2006 were analyzed, and prevalence rates were calculated. Neonatal blood samples were tested by isoelectric focalization. From January 2004 to December 2006, 116,271 newborns were tested for hemoglobinopathies, corresponding to 85% of all live births from mothers residing in the Federal District. The study identified 3,760 newborns with sickle cell trait (Hb AS and 109 with sickle cell anemia (Hb SS. The prevalence rates were

  17. Living with Sickle Cell Disease

    Science.gov (United States)

    ... page from the NHLBI on Twitter. Living With Sickle Cell Disease If you or your child has sickle ... Content: NEXT >> Featured Video Living With and Managing Sickle Cell Disease (Nicholas) 09/02/2011 In this video— ...

  18. Addressing Nature of Science Core Tenets with the History of Science: An Example with Sickle-Cell Anemia & Malaria

    Science.gov (United States)

    Howe, Erica M.

    2007-01-01

    The history of science (HOS) has proven to be a useful pedagogical tool to help students learn about what has come to be regarded as an agreed upon set of core nature of science (NOS) tenets. The following article illustrates an example of how teachers can instrumentally use the history of research on heterozygote protection in sickle-cell anemia…

  19. A Multidisciplinary Health Care Team's Efforts to Improve Educational Attainment in Children with Sickle-Cell Anemia and Cerebral Infarcts

    Science.gov (United States)

    King, Allison; Herron, Sonya; McKinstry, Robert; Bacak, Stephen; Armstrong, Melissa; White, Desiree; DeBaun, Michael

    2006-01-01

    The primary objective of this study was to improve the educational success of children with sickle-cell disease (SCD) and cerebral infarcts. A prospective intervention trial was conducted; a multidisciplinary team was created to maximize educational resources for children with SCD and cerebral infarcts. Students were evaluated systematically…

  20. Sickle cell anemia induces changes in peripheral lymphocytes E-NTPDase/E-ADA activities and cytokines secretion in patients under treatment.

    Science.gov (United States)

    Castilhos, Lívia G; Doleski, Pedro H; Bertoldo, Tatiana M D; Passos, Daniela F; Bertoncheli, Claudia de M; Rezer, João F P; Schlemmer, Josiane B; Leal, Daniela B R

    2015-07-01

    Sickle cell anemia (SCA) is characterized by hemoglobin polymerization that results in sickle-shaped red blood cells. The vascular obstruction by sickle erythrocytes is often inflammatory, and purinergic system ecto-enzymes play an important role in modulating the inflammatory and immune response. This study aimed to evaluate the E-NTPDase and E-ADA activities in lymphocytes of SCA treated patients, as well as verify the cytokine profile in this population. Fifteen SCA treated patients and 30 health subjects (control group) were selected. The peripheral lymphocytes were isolated and E-NTPDase and E-ADA activities were determined. Serum was separated from clot formation for the cytokines quantification. E-NTPDase (ATP and ADP as substrate) and E-ADA (adenosine as substrate) activities were increased in lymphocytes from SCA patients (P<0.001). The TNF-α and IL-6 serum cytokines showed decreased on SCA patients comparing to control (P<0.001). The regulation of extracellular nucleotides released in response to hypoxia and inflammation through E-NTPDase and E-ADA enzymes represent an important control of purine-mediated in the SCA disease, avoiding elevated adenosine levels in the extracellular medium and consequent organ injuries in these patients. The pro-inflammatory cytokines decreased levels by use of hydroxyurea occur in attempt to reduce the pro-inflammatory response and prevent vaso-oclusive crisis.

  1. Transgenic knockout mice with exclusively human sickle hemoglobinand sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Paszty, C.; Brion, C.; Manci, E.; Witkowska, E.; Stevens, M.; Narla, M.; Rubin, E.

    1997-06-13

    To create mice expressing exclusively human sicklehemoglobin (HbS), transgenic mice expressing human alpha-, gamma-, andbeta[S]-globin were generated and bred with knockout mice that haddeletions of the murine alpha- and beta-globin genes. These sickle cellmice have the major features (irreversibly sickled red cells, anemia,multiorgan pathology) found in humans with sickle cell disease and, assuch, represent a useful in vivo system to accelerate the development ofimproved therapies for this common genetic disease.

  2. Anemia falciforme e infecções Sickle cell disease and infection

    OpenAIRE

    Di Nuzzo, Dayana V. P.; Silvana F. Fonseca

    2004-01-01

    OBJETIVO: A alta prevalência de anemia falciforme em nosso meio e a elevada morbimortalidade por infecções associada a esta condição estimularam a realização deste artigo de revisão. FONTE DE DADOS: Realizamos uma revisão bibliográfica no banco de dados MEDLINE no período de 1986 até 2003. Foram encontradas cerca de 600 referências sobre o tema, sendo selecionados 35 artigos, os quais, aliados a capítulos de dois livros-textos, compuseram esta revisão. SÍNTESE DOS DADOS: Neste artigo, além de...

  3. Sickle Cell Crisis (For Teens)

    Science.gov (United States)

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Sickle Cell Crisis (Pain Crisis) KidsHealth > For Teens > Sickle Cell ... Crisis drepanocíticas (Crisis de dolor) What Is a Sickle Cell Crisis? Sickle cell disease changes the shape of ...

  4. Sickle Cell Trait Tied to Higher Kidney Failure Risk for Blacks

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_164005.html Sickle Cell Trait Tied to Higher Kidney Failure Risk for ... HealthDay News) -- Black people with a trait for sickle cell anemia appear to have double the risk of ...

  5. Mortality by sickle cell disease in Brazil.

    Science.gov (United States)

    Arduini, Giovanna Abadia Oliveira; Rodrigues, Letícia Pinto; Trovó de Marqui, Alessandra Bernadete

    This work aimed to characterize mortality by sickle cell disease in Brazil. The MEDLINE electronic database was searched using the terms 'mortality' and 'sickle cell disease' and 'Brazil' for articles published in the last five years aiming to provide a current analysis of the subject in question. Eight studies on mortality by sickle cell disease were carried out in the Brazilian states of Maranhão, Bahia, Minas Gerais, Rio de Janeiro and Mato Grosso do Sul. The majority of the deaths occurred in patients with sickle cell anemia, which is the most common genotype and causes the most severe clinical manifestation of the disease. In summary, there are few published studies on mortality related to sickle cell disease in Brazil, and most are from the state of Minas Gerais. This study emphasizes the importance of developing more studies on sickle cell disease mortality, so that it may be possible to profile gene carriers and give health professionals more data to strategize the delivery of more effective assistance to these individuals. Despite the early diagnosis of sickle cell disease by the Neonatal Screening Program and the use of preventive and therapeutic measures (penicillin, immunization and hydroxyurea), mortality by sickle cell disease on the world stage is still significant.

  6. Fatores de risco para aloimunização em pacientes com anemia falciforme Risk factors for alloimmunization in patients with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Patrícía Costa Alves Pinto

    2011-12-01

    Full Text Available OBJETIVO: Determinar a imunofenotipagem eritrocitária em doadores de sangue e em pacientes com anemia falciforme (SS atendidos no Hemocentro de Alagoas e descrever a frequência e os fatores associados à aloimunização eritrocitária. MÉTODOS: Estudo transversal com 102 pacientes SS e 100 doadores de sangue. Realizou-se a fenotipagem eritrocitária, teste de Coombs Direto e Indireto e detecção de anticorpos irregulares por painel de hemácias fenotipadas. Os dados foram comparados por meio do teste de Mann-Whitney, qui-quadrado ou teste exato de Fisher. Para análise dos fatores associados à aloimunização utilizou-se a regressão logística univariada e múltipla. RESULTADOS: Os antígenos mais frequentes entre os pacientes e os doadores foram c, e, M, s, JK(a. Observaram-se diferenças significativas entre as frequências dos fenótipos dos pacientes e dos doadores em relação aos antígenos s, FY(a e JK(b. Dos 79 pacientes transfundidos, 10 (12,7% apresentaram Coombs Indireto positivo. Detectaram-se 13 aloanticorpos, sete do sistema Rh, dois do Kell e quatro não identificados. Os fatores associados à aloimunização foram o intervalo de tempo entre a última transfusão e a data do teste e ter recebido mais de dez transfusões de hemácias. Receber mais de dez transfusões representou uma chance 16,39 (IC 95%: 2,23-120,59 vezes maior de ser aloimunizado, em comparação aos que receberam menos que dez. CONCLUSÃO: A prevalência de aloimunização nos pacientes SS foi 12,7%, sendo 70% dos anticorpos encontrados pertencentes a grupos sanguíneos Rh e Kell. Este estudo mostra a importância da fenotipagem eritrocitária em doadores e receptores para diminuir o risco de aloimunização.OBJECTIVE: To determine erythrocyte phenotyping in blood donors and patients with sickle cell anemia (SS treated at Hemocentro of Alagoas and describe the frequency and factors associated with erythrocyte alloimmunization. METHODS: Cross-sectional study

  7. Aplasia transitória da série vermelha na anemia falciforme Transient red cell aplasia in sickle cell disease

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    Mônica P. A. Veríssimo

    2007-09-01

    Full Text Available A doença falciforme, devido à vida média encurtada das hemácias, pelo quadro de hemólise crônica, pode apresentar um quadro clínico grave de anemia quando ocorre supressão da eritropoese devida à infecção pelo Parvovírus humano B19. O quadro clínico apresenta-se com febre, que pode preceder a anemia grave, fraqueza e mal- estar, além de sinais laboratoriais como queda da hemoglobina e reticulocitopenia importante. Diagnóstico laboratorial pode ser por imunofluorescência ou ensaio enzimático. O tratamento é a transfusão de concentrado de hemácias. Pode haver complicações associadas a esta infecção, tais como seqüestro esplênico, seqüestro hepático, síndrome torácica aguda, síndrome nefrótica, meningoencefalite e acidente vascular cerebral. Estratégias de prevenção poderão mudar a morbi-mortalidade desta condição no paciente portador de doença falciforme.Sickle cell disease due to shortened life span of red blood cells by hemolysis, may present with severe anemia when erythropoietic suppression occurs due to infection by the Human parvovirus B19. The clinical presentation presents with fever, which may precede transient red cell aplasia, as well as laboratorial signs such as a drop in hemoglobin and significant reticulo cytopenia. Laboratorial diagnosis may be by immunofluorescence or enzymatic assays. Treatment is achieved by transfusion of packed red blood cells. Complications may be associated to this infection, including splenic and hepatic sequestration, acute chest syndrome, nephrotic syndrome, meningoencephalitis and strokes. Strategies of prevention are able to change the morbidity and mortality of this condition in sickle cell disease patients.

  8. Renal disease in adult Nigerians with sickle cell anemia: A report of prevalence, clinical features and risk factors

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    R A Bolarinwa

    2012-01-01

    Full Text Available Renal abnormalities in adult Nigerians with sickle cell anemia (SCA have not been extensively studied. To determine the prevalence, pattern and the associated risk factors of renal disease, 72 subjects with SCA from two centers in the southwestern Nigeria were investigated. Socio-demographic data, body mass index and clinical findings were documented. The urine analysis, serum bio-chemistry, hemogram and renal factors attributable to SCA were determined. Presence of albuminuria of at least 1+ or microalbuminuria in those negative with dipstick; and the estimated glomerular filtration rate (eGFR using the Cockcroft-Gault formula categorized subjects to various stages of chronic kidney disease (CKD. Subjects with and without albuminuria were compared to determine the relative risk associated with renal disease. Four (5.6% subjects had macro-albuminuria, while 32 (44.4% had micro-albuminuria and 30 (41.7% had hemoglobinuria. In the subjects with albuminuria, age, hematocrit, systolic blood pressure, serum creatinine, urea and creatinine clearance were numerically higher while the eGFR was numerically lower. There was no significant difference in the clinical parameters studied in the two groups of subjects. The diastolic blood pressure was significantly higher in the albuminuric group. Based on eGFR, 22 (30.6% subjects had hyperfiltration (GFR > 140 mL/min/1.73 m2, of whom 36.4% had albuminuria, 18 (25.0% had stage 1 CKD, 30 (41.7% had stage 2 CKD and two (2.7% subjects had stage 3 CKD with albuminuria. None had stage 4 and 5 CKD. We conclude that renal abnormalities, importantly albuminuria, is common in adult Nigerians with SCA and the pattern and incidence are similar to those reported from other parts of the world. Regular blood pressure monitoring, early diagnosis and active intervention are advocated to delay progression to end-stage kidney disease in view of poor outcomes of renal replacement therapy in SCA patients with nephropathy.

  9. Morbidity, beta S haplotype and alpha-globin gene patterns among sickle cell anemia patients in Kuwait.

    Science.gov (United States)

    Adekile, A D; Haider, M Z

    1996-01-01

    Admission records of children with sickle cell anemia (SS), in the two main teaching hospitals in Kuwait, were reviewed for a 1-year period. The haplotypes of 92 beta s chromosomes (from 39 SS, 11 AS, 2 S beta-thalassemia [S beta-thal] and 1 SD individuals) were determined using an allele-specific oligonucleotide (ASO) hybridization technique, while the alpha-globin gene status of 27 SS and 33 AS individuals, i.e. 120 chromosomes, was determined with a combination of polymerase chain reaction and AS techniques. A vasooclusive crisis was the most common (60.0%) cause of hospitalization, followed by infections (20%). Hospital admissions were most common during the hottest month of the year (July). Few complications of the disease were seen among patients on follow-up; however, splenomegaly was present in 24.0%, hepatomegaly in 15.2%, gallstones in 15.2% and aseptic necrosis of the femoral head in 6.1%. Haplotype 31 (Saudi Arabia/India) is the most frequent in this community, being present in 80.4% of the chromosomes tested; Benin haplotype 19 was found in 12.0% and Bantu haplotype 20 in 6.5%. Hb F in the haplotype 31 homozygotes and heterozygotes ranged from 11.4 to 35.1% (mean 22.5 +/- 5.2%). The frequency of alpha-thal determinants in the study was 40.0%, the commonest being the -alpha 3.7-kb deletion (27.5%), the alpha 2 polyadenylation signal (AATAAA-> AATAAG) mutation (10.2%) and the IVS-I 5' end GAGGT-GAGG->GAGG pentanucleotide (5 nt) deletion (3.3%). SS patients with coexistent alpha-thal trait did not have severe recurrent infections and none had gallstones. The high frequencies of the Saudi Arabia/India beta s haplotype and alpha-thalassemia trait contribute to the mild nature of SS disease among Kuwaiti Arabs comparable to that in eastern Saudi Arabia.

  10. Development of Myelodysplastic Syndrome and Acute Myeloid Leukemia 15 Years after Hydroxyurea Use in a Patient with Sickle Cell Anemia

    OpenAIRE

    2012-01-01

    We report a 41 year old male with sickle cell disease who developed a myelodysplastic syndrome and acute myeloid leukemia with complex karyotype involving chromosomes 5, 7 and 17 after 15 years of hydroxyurea treatment. He responded poorly to induction chemotherapy with cytarabine/idarubicin followed by high dose cytarabine and succumbed to neutropenic sepsis. Multiple systematic reviews, observational studies and clinical trials were conducted to identify the toxicity profile of hydroxurea. ...

  11. Factors Associated with Growth Retardation in Children Suffering from Sickle Cell Anemia: First Report from Central Africa

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    Aimé Lukusa Kazadi

    2017-01-01

    Full Text Available Background. The aim of this study was to investigate and determine the risk factors associated with poor growth among SCA children. Methods. A cross-sectional study was conducted in Kinshasa, the capital’s country. The nutritional status was assessed using the Z scores of the anthropometric indices. Results. We gathered data on the 256 patients, 138 females (53.9%, who entered the study. The mean age at presentation was 8.4 ± 4.9 years of age. Underweight, stunting, and wasting were found, respectively, in 47.7%, 10.5%, and 50.3% of SCA children. A history of hand-foot syndrome, more than 3 blood transfusions, being less than 12 months of age when receiving the first transfusion, more than two severe sickle crises per year, a medical history of severe infections, and the presence of hepatomegaly were associated with poor growth. When comparing sickle cell patients under 12 years of age (n=159 to a group of 296 age-matched children with normal Hb-AA, a significantly higher proportion of subjects with stunting and underweight were found among SCA. Conclusion. Nutritional status encountered in Congolese sickle cell children has been described for the first time in this study. A high prevalence of poor growth in SCA children was found in our study.

  12. Factors Associated with Growth Retardation in Children Suffering from Sickle Cell Anemia: First Report from Central Africa

    Science.gov (United States)

    Ngiyulu, René Makuala; Gini-Ehungu, Jean Lambert; Mbuyi-Muamba, Jean Marie

    2017-01-01

    Background. The aim of this study was to investigate and determine the risk factors associated with poor growth among SCA children. Methods. A cross-sectional study was conducted in Kinshasa, the capital's country. The nutritional status was assessed using the Z scores of the anthropometric indices. Results. We gathered data on the 256 patients, 138 females (53.9%), who entered the study. The mean age at presentation was 8.4 ± 4.9 years of age. Underweight, stunting, and wasting were found, respectively, in 47.7%, 10.5%, and 50.3% of SCA children. A history of hand-foot syndrome, more than 3 blood transfusions, being less than 12 months of age when receiving the first transfusion, more than two severe sickle crises per year, a medical history of severe infections, and the presence of hepatomegaly were associated with poor growth. When comparing sickle cell patients under 12 years of age (n = 159) to a group of 296 age-matched children with normal Hb-AA, a significantly higher proportion of subjects with stunting and underweight were found among SCA. Conclusion. Nutritional status encountered in Congolese sickle cell children has been described for the first time in this study. A high prevalence of poor growth in SCA children was found in our study. PMID:28250985

  13. Kidney abnormalities in sickle cell disease.

    Science.gov (United States)

    López Revuelta, K; Ricard Andrés, M P

    2011-01-01

    Patients with sickle cell disease exhibits numerous kidney structural and functional abnormalities, changes that are seen along the entire length of the nephron. Changes are most marked in patients with homozygous sickle cell anemia, but are also seen in those with compound heterozygous states and the sickle cell trait. The renal features of sickle cell disease include some of the most common reasons for referral to nephrologists, such as hematuria, proteinuria, tubular disturbances and chronic kidney disease. Therapy of these conditions requires specialized knowledge of their distinct pathogenic mechanisms. Spanish Haemathology and Hemotherapy Association has recently publicated their Clinical Practice Guidelines of SCD management. Renal chapter is reproduced in this article for Nefrología difussion.

  14. Eficácia e toxicidade da hidroxiuréia em crianças com anemia falciforme Effectiveness and toxicity of hydroxyurea in children with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Michelle C. Silva

    2006-06-01

    Full Text Available A anemia falciforme é uma doença genética caracterizada pelo alto índice de morbimortalidade, considerada como a mais grave entre as doenças falciformes. As opções terapêuticas mais eficazes atualmente disponíveis para tratamento desta hemoglobinopatia são transplante de medula óssea (TMO e hidroxiuréia (HU. O TMO apesar de ser a medida curativa é considerado de alto risco por apresentar diversos graus de complicações e significativo nível de mortalidade. O uso de HU em crianças portadoras de anemia falciforme tem proporcionado redução de complicações clínicas e aumento significativo na expectativa de vida, por promover elevação dos níveis de hemoglobina fetal, da concentração de hemoglobina e do VCM, bem como redução da hemólise e de eventos vaso-oclusivos. Desse modo, a HU é considerada como melhor opção terapêutica atualmente disponível. Porém, por ser apontada como droga potencialmente carcinogênica, há questionamentos quanto aos benefícios e toxicidades quando utilizada por longo período. Este trabalho teve como proposta, avaliar por meio da revisão literária, os riscos, benefícios e efeitos adversos da hidroxiuréia em crianças.Sickle cell anemia is a genetic disease characterized by a high morbimortality rate, it is considered as the most serious among all sickle cell diseases. The most effective therapeutic options available nowadays for the treatment of this hemoglobinopathy are bone morrow transplantation (BMT and hydroxyurea (HU. BMT is considered a high risk procedure due to the different complications and significant mortality rates. The use of HU for children with sickle cell anemia has reduced the clinical complications and given a significant increase in life expectancy by augmenting the fetal hemoglobin levels and hemoglobin concentrations and reducing cytomegalovirus, as well as reducing hemolysis and vaso-occlusive events. Thus, HU is considered the best therapeutic option currently

  15. Determination of βS haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil

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    Cynthia Hatsue Kitayama Cabral

    2011-01-01

    Full Text Available βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5% were identified with genotype CAR/CAR, 9 (19.1% CAR/BEN, 6 (12.8% CAR/CAM, 1 (2.1% BEN/BEN, 2 (4.3% CAR/Atp, 1 (2.1% BEN/Atp and 1 (2.1% with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte.

  16. HLA DRB1*130101-DQB1*060101 haplotype is associated with acute chest syndrome in sickle cell anemia patients.

    Science.gov (United States)

    Mahdi, N; Al-Subaie, A M; Al-Ola, K; Al-Irhayim, A Q; Ali, M E; Al-Irhayim, Z; Almawi, W Y

    2009-03-01

    We investigated the association of human leukocyte antigens (HLA) class II alleles and haplotypes with the pathogenesis of acute chest syndrome (ACS) in 186 sickle cell anemia (SCA) patients, of whom 58 had documented ACS (new pulmonary infiltrate, fever, and other associated clinical events) and 128 with a negative history of ACS, serving as controls. HLA DRB1* and -DQB1* genotyping was performed by polymerase chain reaction-sequence-specific priming. Of the DRB1* and DQB1* alleles analyzed, only DRB1*130101 (Pc haplotype was more prevalent among ACS patients (P = 0.018), thus conferring disease susceptibility. Specific HLA alleles and haplotypes may influence ACS risk in SCA patients, and specific HLA genotypes may be useful markers for identifying high-risk SCA ACS patients.

  17. Population pharmacokinetics and pharmacodynamics of hydroxyurea in sickle cell anemia patients, a basis for optimizing the dosing regimen

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    Galactéros Frédéric

    2011-05-01

    Full Text Available Abstract Background Hydroxyurea (HU is the first approved pharmacological treatment of sickle cell anemia (SCA. The objectives of this study were to develop population pharmacokinetic(PK-pharmacodynamic(PD models for HU in order to characterize the exposure-efficacy relationships and their variability, compare two dosing regimens by simulations and develop some recommendations for monitoring the treatment. Methods The models were built using population modelling software NONMEM VII based on data from two clinical studies of SCA adult patients receiving 500-2000 mg of HU once daily. Fetal hemoglobin percentage (HbF% and mean corpuscular volume (MCV were used as biomarkers for response. A sequential modelling approach was applied. Models were evaluated using simulation-based techniques. Comparisons of two dosing regimens were performed by simulating 10000 patients in each arm during 12 months. Results The PK profiles were described by a bicompartmental model. The median (and interindividual coefficient of variation (CV of clearance was 11.6 L/h (30%, the central volume was 45.3 L (35%. PK steady-state was reached in about 35 days. For a given dosing regimen, HU exposure varied approximately fivefold among patients. The dynamics of HbF% and MCV were described by turnover models with inhibition of elimination of response. In the studied range of drug exposures, the effect of HU on HbF% was at its maximum (median Imax was 0.57, CV was 27%; the effect on MCV was close to its maximum, with median value of 0.14 and CV of 49%. Simulations showed that 95% of the steady-state levels of HbF% and MCV need 26 months and 3 months to be reached, respectively. The CV of the steady-state value of HbF% was about 7 times larger than that of MCV. Simulations with two different dosing regimens showed that continuous dosing led to a stronger HbF% increase in some patients. Conclusions The high variability of response to HU was related in part to pharmacokinetics and

  18. Men with Sickle Cell Anemia and Priapism Exhibit Increased Hemolytic Rate, Decreased Red Blood Cell Deformability and Increased Red Blood Cell Aggregate Strength.

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    Kizzy-Clara Cita

    Full Text Available To investigate the association between priapism in men with sickle cell anemia (SCA and hemorheological and hemolytical parameters.Fifty-eight men with SCA (median age: 38 years were included; 28 who had experienced priapism at least once during their life (priapism group and 30 who never experienced this complication (control group. Twenty-two patients were treated with hydroxycarbamide, 11 in each group. All patients were at steady state at the time of inclusion. Hematological and biochemical parameters were obtained through routine procedures. The Laser-assisted Optical Rotational Cell Analyzer was used to measure red blood cell (RBC deformability at 30 Pa (ektacytometry and RBC aggregation properties (laser backscatter versus time. Blood viscosity was measured at a shear rate of 225 s-1 using a cone/plate viscometer. A principal component analysis was performed on 4 hemolytic markers (i.e., lactate dehydrogenase (LDH, aspartate aminotransferase (ASAT, total bilirubin (BIL levels and reticulocyte (RET percentage to calculate a hemolytic index.Compared to the control group, patients with priapism exhibited higher ASAT (p = 0.01, LDH (p = 0.03, RET (p = 0.03 levels and hemolytic indices (p = 0.02. Higher RBC aggregates strength (p = 0.01 and lower RBC deformability (p = 0.005 were observed in patients with priapism compared to controls. After removing the hydroxycarbamide-treated patients, RBC deformability (p = 0.01 and RBC aggregate strength (p = 0.03 were still different between the two groups, and patients with priapism exhibited significantly higher hemolytic indices (p = 0.01 than controls.Our results confirm that priapism in SCA is associated with higher hemolytic rates and show for the first time that this complication is also associated with higher RBC aggregate strength and lower RBC deformability.

  19. Indigenous Traditional Medical Practitioners’ Lack of Formal Medical Education Impacts their Choices of Information Resources for the Treatment of Sickle Cell Anemia. A Review of: Olatokun, W. M., & Ajagbe, E. (2010). Analyzing traditional medical practitioners’ information-seeking behavior using Taylor’s information-use environment model. Journal of Librarianship and Information Science, 42, 122-135.

    OpenAIRE

    Maria C. Melssen

    2011-01-01

    Objective – To determine the information seeking behaviours of traditional medical practitioners who treat sickle cell anemia patients.Design – Qualitative, interviewer-administered, structured questionnaire.Setting – City and surrounding rural area of Ibadan, Nigeria.Subjects – The researchers selected for this study 160 indigenous traditional medical practitioners who specialize in the treatment of sickle cell anemia. The majority of the subjects were male, with 96 male and 64 female. The p...

  20. Hematopoietic Stem-Cell Transplantation for Sickle Cell Disease

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    Atila Tanyeli

    2014-02-01

    Full Text Available Sickle cell anemia is one of the most common hemoglobinopathies in the worldwide. Sickle cell anemia characterized by crises and organ failure develops over time. Myeloablative stem cell transplantation is curative but it has been performed in children younger than 16 years of age. Modest modifications in the conditioning regimen and supportive care have improved outcome such that the majority of children with a suitable HLA-matched sibling donor can expect a cure from this approach. But nonmyeloablative protocols are crucial for the future of Hematopoietic Stem-Cell Transplantation for older sickle cell anemia patients with organ failure. A protocol for nonmyeloablative allogeneic hematopoietic stem-cell transplantation that includes total-body irradiation and treatment with alemtuzumab and sirolimus can achieve stable, mixed donor–recipient chimerism. Stem cell transplantation is recommended in the presence of HLA-matched siblings in patients at risk.

  1. The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view.

    Science.gov (United States)

    Adorno, Elisângela Vitória; Zanette, Angela; Lyra, Isa; Souza, Cyntia Cajado; Santos, Leandro Ferraz; Menezes, Joelma Figueiredo; Dupuit, Marie France; Almeida, Mari Ney Tavares; Reis, Mitermayer Galvão; Gonçalves, Marilda Souza

    2004-08-01

    The beta(S)-globin haplotypes were studied in 78 sickle cell Brazilian patients from Bahia, Northeast Brazil, that has a large population of African origin. Hemoglobin (Hb) profiles were developed by high-performance liquid chromatography (HPLC), and beta(S)-globin gene haplotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques. We identified 44 (55.0%) patients with the CAR/Ben (Central African Republic/Benin) genotype, 16 (20.0%) Ben/Ben, 13 (16.2%) CAR/CAR and seven (8.8%) with other genotypes. Analyses of the phenotypes showed clinical differences related only to Hb F levels and blood transfusion therapy; the presence of -alpha(-3.7)-thalassemia (thal) demonstrated statistical significance when associated with hematocrit (p=0.044), MCV (p=0.0007), MCH (p=0.012) and spleen sequestration events. The haplotype diversity found in the present study can be justified by information about the origin of the slave traffic period in Bahia during the 19th century. The specific characteristics described among the Bahian sickle cell patients could be confirmed by increasing the number of patients with specific genotypes and further studies of genetic markers.

  2. Facts about Sickle Cell Disease

    Science.gov (United States)

    ... Us Information For... Media Policy Makers Facts About Sickle Cell Disease Language: English Español (Spanish) Recommend on Facebook ... SCD. Infographic: 5 Facts You Should Know About Sickle Cell Disease Did you know SCD affects people from ...

  3. Physics and (patho)physiology in confined flows: from colloidal patterns to cytoplasmic rheology and sickle cell anemia

    Science.gov (United States)

    Mahadevan, L.

    2015-03-01

    I will discuss a few problems that involve the interaction of fluids and solids in confined spaces. (i) Jamming in pressure-driven suspension flows that show a transition from Stokes flows to Darcy flows as the solids start to lock, as in evaporative patterning in colloids (e.g. coffee stain formation) .(ii) Jamming and clogging of red blood cells, as in sickle-cell pathophysiology, with implications for other diseases that involve jamming. (iii) The mechanical response of crowded networks of filaments bathed in a fluid, as in the cytoskeleton, that can be described by poroelasticity theory. In each case, I will show how simple theories of multiphase flow and deformation can be used to explain a range of experimental observations, while failing to account for others, along with some thoughts on how to improve them.

  4. Deficiências de micronutrientes em crianças e adolescentes com anemia falciforme: uma revisão sistemática Micronutrient deficiency in children and adolescents with sickle cell anemia: a systematic review

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    Pilar S. R. Mataratzis

    2010-01-01

    Full Text Available A anemia falciforme é a doença hemolítica crônica, de caráter hereditário mais comum no Brasil, sendo escassas as informações sobre o estado nutricional de micronutrientes em portadores dessa enfermidade no Brasil. Estudos internacionais vêm demonstrando correlação positiva entre deficiência de micronutrientes e evolução desfavorável da doença.O objetivo deste estudo foi realizar revisão sistemática sobre deficiência de micronutrientes em crianças e adolescentes com anemia falciforme.Foram selecionadas publicações nas bases científicas de dados Medline e Lilacs através do Pubmed e Scielo, disponíveis entre os anos de 1998 e 2008. Foram incluídas na análise as publicações realizadas com crianças e adolescentes portadores da forma homozigótica da doença (SS. A qualidade metodológica dos artigos foi avaliada segundo as recomendações de Strobe, sendo selecionados 11 estudos, sendo 2 transversais, 4 caso-controle e 5 de coorte, todos realizados nos Estados Unidos. A avaliação da concordância entre os avaliadores na classificação da qualidade dos artigos demonstrou ótima concordância (k = 1,00, com um total de 90,9% de trabalhos com classificação B. Para a maioria dos nutrientes estudados (vit. A, D, B6, folato, cálcio e zinco, observou-se estado nutricional desfavorável entre os portadores de anemia falciforme, à exceção do ferro e vitamina B12, cujos resultados revelaram baixo ou nenhum nível de inadequação, seja bioquímica ou dietética. Tal constatação reforça a necessidade do cuidado nutricional no manejo desses pacientes, garantindo qualidade de vida para os portadores da doença.Sickle cell anemia is a chronic hemolitic disease and very common in Brazil and there are few information about nutritional status of micronutrients in people with sickle cell anemia in this country. International studies have shown positive correlation between deficiency of micronutrients and worst evolution of

  5. In situ genetic correction of the sickle cell anemia mutation in human induced pluripotent stem cells using engineered zinc finger nucleases.

    Science.gov (United States)

    Sebastiano, Vittorio; Maeder, Morgan L; Angstman, James F; Haddad, Bahareh; Khayter, Cyd; Yeo, Dana T; Goodwin, Mathew J; Hawkins, John S; Ramirez, Cherie L; Batista, Luis F Z; Artandi, Steven E; Wernig, Marius; Joung, J Keith

    2011-11-01

    The combination of induced pluripotent stem cell (iPSC) technology and targeted gene modification by homologous recombination (HR) represents a promising new approach to generate genetically corrected, patient-derived cells that could be used for autologous transplantation therapies. This strategy has several potential advantages over conventional gene therapy including eliminating the need for immunosuppression, avoiding the risk of insertional mutagenesis by therapeutic vectors, and maintaining expression of the corrected gene by endogenous control elements rather than a constitutive promoter. However, gene targeting in human pluripotent cells has remained challenging and inefficient. Recently, engineered zinc finger nucleases (ZFNs) have been shown to substantially increase HR frequencies in human iPSCs, raising the prospect of using this technology to correct disease causing mutations. Here, we describe the generation of iPSC lines from sickle cell anemia patients and in situ correction of the disease causing mutation using three ZFN pairs made by the publicly available oligomerized pool engineering method (OPEN). Gene-corrected cells retained full pluripotency and a normal karyotype following removal of reprogramming factor and drug-resistance genes. By testing various conditions, we also demonstrated that HR events in human iPSCs can occur as far as 82 bps from a ZFN-induced break. Our approach delineates a roadmap for using ZFNs made by an open-source method to achieve efficient, transgene-free correction of monogenic disease mutations in patient-derived iPSCs. Our results provide an important proof of principle that ZFNs can be used to produce gene-corrected human iPSCs that could be used for therapeutic applications.

  6. Sickle cell disease complications

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    Ersi Voskaridou

    2014-12-01

    Full Text Available Sickle cell disease (SCD is an inherited, lifelong condition. The sickle mutation consists a single nucleotide change (GAT->GTT in the sixth codon of exon 1 of the β-globin gene coding for the β-globin polypeptide of hemoglobin (Hb (a2β2. This change results in replacement of the wild type glutamic acid residue by a valine residue in β-globin chain and the formation of the sickle Hb (HbS in homozygotes for this mutation. Heterozygotes live a normal life. In SCD patients, sickle erythrocytes are rigid with decreased deformability and reduced life span resulting in hemolysis, vaso-occlusive disease, vasculopathy and subsequent inflammation and end organ damage. Sickle cell disease affects millions of people worldwide. Today, with proper health care, many SCD patients have a good quality of life (QoL and are in fairly good health most of the time. These people can live up to their forties or fifties, or longer. Despite the ‘common’ underlying genetic basis and a similar pathophysiology, patients with SCD present a highly variable clinical phenotype due to Single Nucleotide Polymorphisms (SNPs variability throughout the genome. Patients with SCD are at high risk for developing multisystem acute and chronic complications associated with significant morbidity and mortality.

  7. Função pulmonar em portadores de anemia falciforme Función pulmonar en portadores de anemia falciforme Lung function in patients with sickle cell anemia

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    Cássia Suzane V. Fonseca

    2011-03-01

    Full Text Available OBJETIVO: Avaliar a função ventilatória por meio de espirometria, em escolares e adolescentes com anemia falciforme (AF, relacionando os achados a parâmetros clínicos e hematológicos. MÉTODOS: Foram avaliados portadores de AF de ambos os gêneros, a partir dos dez anos, clinicamente estáveis, sem intercorrências agudas, que foram submetidos à espirometria e avaliados quanto à saturação transcutânea de oxigênio, níveis de hemoglobina e contagem de leucócitos. Verificou-se a associação de alterações à espirometria com as características demográficas, clínicas e laboratoriais dos pacientes analisados. Para a análise estatística, aplicou-se o teste do qui-quadrado e o teste t para amostras não pareadas, sendo significante pOBJETIVO: Evaluar la función ventilatoria, mediante espirometria, en escolares y adolescentes con Anemia Falciforme (AF, relacionando los hallazgos a parámetros clínicos y hematológicos. MÉTODOS: Fueron evaluados portadores de AF de ambos géneros, a partir de los 10 años, clínicamente estables, fuera de complicaciones agudas, que fueron sometidos a la espirometria y tuvieron verificados la saturación transcutánea de oxígeno, los niveles de hemoglobina y el recuento de leucocitos. Se verificó la asociación de alteraciones a la espirometria con las características demográficas, clínicas y laboratoriales de los pacientes analizados. Para el análisis estadístico, se usó el chi cuadrado y la prueba t para muestras no pareadas, siendo significante pOBJECTIVE: To evaluate the pulmonary function in children and adolescents with sickle cell disease (SCD and to associate the findings with clinical and hematologic characteristics of the studied population. METHODS: Male and female SCD patients with ten or more years old, clinically stable and without acute clinical problems were tested by spirometry. At that time, total pulse oximetry values, hemoglobin and total white blood cell count were

  8. The hematologic characteristics of sickle cell anemia bearing the Bantu haplotype: the relationship between G gamma and HbF level.

    Science.gov (United States)

    Nagel, R L; Rao, S K; Dunda-Belkhodja, O; Connolly, M M; Fabry, M E; Georges, A; Krishnamoorthy, R; Labie, D

    1987-04-01

    Previous work has demonstrated that the HbS gene has appeared and expanded three times in Africa in three separate geographic locations and that these three distinct mutational events can be identified by linked DNA polymorphic sites (haplotypes) surrounding the abnormal gene. We have reported that the Senegalese and Beninian haplotypes differ in G gamma expression, mean percentage of HbF, and percentage of dense cells. We now report on the third haplotype, the Bantu, and find that it has intermediate features, namely, the high mean percentage of HbF and low percentage of dense cells associated with the Senegalese haplotype, but with a low percentage of G gamma expression similar to the Beninian haplotype. The distribution of percent HbF is quite different from Senegal haplotype-bearing sickle cell anemia patients since it covers a much wider range. The low G gamma expression is also different from the Beninians since it contains a significant and unique cluster of individuals with lower than 38% G gamma. Interestingly, among the Bantu there is a strong correlation between HbF levels and G gamma expression, which is not seen with the other haplotypes. These findings open the possibility that among the Bantu haplotype-bearing individuals two chromosomal types exist that define different levels of G gamma and HbF expression. Further structural exploration of these two potential subhaplotypes is needed.

  9. High frequency of the CCR5delta32 variant among individuals from an admixed Brazilian population with sickle cell anemia

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    J.A.B. Chies

    2003-01-01

    Full Text Available Homozygous sickle cell disease (SCD has a wide spectrum of clinical manifestations. In Brazil, the main cause of death of individuals with SCD is recurrent infection. The CCR5delta32 allele, which confers relative resistance to macrophage-tropic HIV virus infection, probably has reached its frequency and world distribution due to other pathogens that target macrophage in European populations. In the present investigation a relatively higher prevalence (5.1% of the CCR5delta32 allele was identified, by PCR amplification using specific primers, in 79 SCD patients when compared to healthy controls (1.3% with the same ethnic background (Afro-Brazilians. Based on a hypothesis that considers SCD as a chronic inflammatory condition, and since the CCR5 chemokine receptor is involved in directing a Th1-type immune response, we suggest that a Th1/Th2 balance can influence the morbidity of SCD. If the presence of the null CCR5delta32 allele results in a reduction of the chronic inflammation state present in SCD patients, this could lead to differential survival of SCD individuals who are carriers of the CCR5delta32 allele. This differential survival could be due to the development of less severe infections and consequently reduced or less severe vaso-occlusive crises.

  10. Endothelial Nitric Oxide Synthase (−786T>C) and Endothelin-1 (5665G>T) Gene Polymorphisms as Vascular Dysfunction Risk Factors in Sickle Cell Anemia

    Science.gov (United States)

    Vilas-Boas, Wendell; Figueiredo, Camylla V. B.; Pitanga, Thassila N.; Carvalho, Magda O. S.; Santiago, Rayra P.; Santana, Sânzio S.; Guarda, Caroline C.; Zanette, Angela M. D.; Cerqueira, Bruno A. V.; Gonçalves, Marilda S.

    2016-01-01

    Sickle cell anemia (SCA) patients have vascular complications, and polymorphisms in endothelin-1 (ET-1) and endothelial nitric oxide synthase (eNOS) genes were associated with ET-1 and nitric oxide disturbance. We investigate the association of ET-1 5665G>T and eNOS −786T>C polymorphisms with soluble adhesion molecules (sVCAM-1 and sICAM-1), biochemical markers, and medical history. We studied 101 SCA patients; carriers of eNOS minor allele (C) had the highest levels of sVCAM-1, and carriers of ET-1 minor allele had more occurrence of acute chest syndrome (ACS). The multivariate analysis suggested the influence of the ET-1 gene on ACS outcome and an association of the eNOS gene with upper respiratory tract infection. We suggest that eNOS and ET-1 gene polymorphisms can influence SCA pathophysiology and that eNOS variant in SCA patients might be important to nitric oxide activity and vascular alteration. We found an association of the ET-1 minor allele in ACS, showing the importance of genetic screening in SCA. PMID:27486304

  11. Which side of the balance determines the frequency of vaso-occlusive crises in children with sickle cell anemia: Blood viscosity or microvascular dysfunction?

    Science.gov (United States)

    Charlot, Keyne; Romana, Marc; Moeckesch, Berenike; Jumet, Stéphane; Waltz, Xavier; Divialle-Doumdo, Lydia; Hardy-Dessources, Marie-Dominique; Petras, Marie; Tressières, Benoît; Tarer, Vanessa; Hue, Olivier; Etienne-Julan, Maryse; Antoine-Jonville, Sophie; Connes, Philippe

    2016-01-01

    Vascular resistance and tissue perfusion may be both affected by impaired vascular function and increased blood viscosity. Little is known about the effects of vascular function on the occurrence of painful vaso-occlusive crises (VOC) in children with sickle cell anemia (SCA). The aim of the present study was to determine which side of the balance (blood viscosity or vascular function) is the most deleterious in SCA and increases the risk for frequent hospitalized VOC. Microvascular function, microcirculatory oxygenation and blood viscosity were determined in a group of 22 SCA children/adolescents at steady state and a group of 13 healthy children/adolescents. Univariate analyses demonstrated blunted microvascular reactivity during local thermal heating test and decreased microcirculatory oxygenation in SCA children compared to controls. Multivariate analysis revealed that increased blood viscosity and decreased microcirculatory oxygenation were independent risk factors of frequent VOC in SCA. In contrast, the level of microvascular dysfunction does not predict VOC rate. In conclusion, increased blood viscosity is usually well supported in healthy individuals where vascular function is not impaired. However, in the context of SCA, microvascular function is impaired and any increase of blood viscosity or decrease in microcirculatory oxygenation would increase the risks for frequent VOC.

  12. G6PD deficiency and absence of α-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia.

    Science.gov (United States)

    Joly, Philippe; Garnier, Nathalie; Kebaili, Kamila; Renoux, Céline; Dony, Arthur; Cheikh, Nathalie; Renard, Cécile; Ceraulo, Antony; Cuzzubbo, Daniela; Pondarré, Corinne; Martin, Cyril; Pialoux, Vincent; Francina, Alain; Bertrand, Yves; Connes, Philippe

    2016-04-01

    The aim of this study was to test the association between hematological/genetic factors and cerebral vasculopathy in children with sickle cell anemia (SCA). A group with cerebral vasculopathy (VASC) was composed of children who had stroke (n = 6), silent infarct (n = 11), or an abnormal transcranial Doppler (n = 5). Eighty-four patients had neither positive history of stroke or silent infarct, nor abnormal transcranial Doppler (NORM group). An intermediate group (COND; n = 15) was composed of SCA children with a conditional transcranial Doppler. Biological analyses were performed on samples obtained at steady state and before the beginning of any chronic treatment. The comparisons of the three groups demonstrated a protective effect of α-thalassemia against cerebral vasculopathy through its effects on hemoglobin and reticulocyte levels. Moreover, we observed higher frequency of G6PD deficiency in the VASC group compared with the other groups. Our study confirms the key role of α-thalassemia and G6PD status in the pathophysiology of cerebral vasculopathy in SCA children.

  13. Inheritance of the Bantu/Benin haplotype causes less severe hemolytic and oxidative stress in sickle cell anemia patients treated with hydroxycarbamide.

    Science.gov (United States)

    Okumura, Jéssika V; Silva, Danilo G H; Torres, Lidiane S; Belini-Junior, Edis; Barberino, Willian M; Oliveira, Renan G; Carrocini, Gisele C S; Gelaleti, Gabriela B; Lobo, Clarisse L C; Bonini-Domingos, Claudia R

    2016-07-01

    Beta S-globin gene cluster haplotypes (β(S)-haplotypes) can modulate the response to hydroxycarbamide (HC) treatment in sickle cell anemia (SCA) patients. In Brazil, the most common haplotypes are Bantu and Benin, and both confer a poor prognosis for patients when untreated with HC. We evaluated oxidative and hemolytic biomarkers in 48 SCA patients undergoing HC treatment separated in three subgroups: Bantu/Bantu, Bantu/Benin and Benin/Benin haplotype. On the basis of reduced haptoglobin (HP) levels, patients with Bantu/Bantu haplotypes had 3.0% higher hemolysis degree when compared with those with Bantu/Benin haplotypes (P=0.01). The Benin/Benin patients had 53.6% greater lipid peroxidation index than the Bantu/Bantu patients (P=0.01) because of evaluated thiobarbituric acid reactive species levels. The Bantu/Benin subgroup had intermediate levels of hemolytic and oxidative stress markers compared with the homozygous subgroups. Through strict inclusion criteria adopted, as well as consolidated and well-described hemolytic and the oxidative parameters evaluated, we suggest a haplotype-interaction response to HC treatment mediated by a 'balance' between the genetic factors of each haplotype studied.

  14. Invasive bacterial infections in Gambians with sickle cell anemia in an era of widespread pneumococcal and hemophilus influenzae type b vaccination.

    Science.gov (United States)

    Soothill, Germander; Darboe, Saffiatou; Bah, Gibril; Bolarinde, Lawal; Cunnington, Aubrey; Anderson, Suzanne T

    2016-12-01

    There is relatively little data on the etiology of bacterial infections in patients with sickle cell anemia (SCA) in West Africa, and no data from countries that have implemented conjugate vaccines against both Streptococcus pneumoniae and Haemophilus influenzae type b (Hib).We conducted a retrospective analysis of SCA patients admitted to the Medical Research Council Unit, The Gambia, during a 5-year period when there was high coverage of Hib and Pneumococcal conjugate vaccination. We evaluated 161 admissions of 126 patients between April 2010 and April 2015.Pathogenic bacteria were identified in blood cultures from 11 of the 131 admissions that had cultures taken (8.4%, 95% CI 4.5-14.1%). The most frequent isolate was Salmonella Typhimurium (6/11; 54.5%), followed by Staphylococcus aureus (2/11; 18.2%) and other enteric Gram-negative pathogens (2/11; 18.2%) and there was 1 case of H influenzae non-type b bacteremia (1/11; 9.1%). There were no episodes of bacteremia caused by S pneumoniae or Hib.The low prevalence of S pneumoniae and Hib and the predominance of nontyphoidal Salmonella as a cause of bacteremia suggest the need to reconsider optimal antimicrobial prophylaxis and the empirical treatment regimens for patients with SCA.

  15. Linus Pauling and sickle cell disease.

    Science.gov (United States)

    Eaton, William A

    2003-01-01

    The 1949 paper by Linus Pauling et al. [Science 110 (1949) 543-548] describing the discovery of sickle cell anemia as the first molecular disease had a major impact on biology and medicine. Inspired by the scholarly works of John Edsall on the history of hemoglobin research, I present a brief retrospective analysis of Pauling's paper. This is followed by some personal recollections of Edsall and Pauling.

  16. What dentists should know about sickle cell disease.

    Science.gov (United States)

    Devine, Bill P

    2013-11-01

    The medical history should be a communication between the patient and the dentist. A good history will reveal a patient's medical problems,concerns, ideas, and expectations. Understanding medical conditions on a patient's medical history is of up most importance in providing the patient with the best possible standard of care. Sickle cell disease is an inherited blood disorder that affects red blood cells. Normal red blood cells contain hemoglobin A. People with sickle cell disease have red blood cells containing mostly hemoglobin S, an abnormal type of hemoglobin. These mutated sickle cells do not have the smooth motion needed for oxygenation and deoxygenation. One of the main concerns in sickle cell disease is the reversible extreme pain episodes called “sickle cell crisis.”Pain episodes occur when sickle cells clog small vessels, depriving the body of adequate blood and oxygen. Treatment of the sickle cell patient should be a team approach between dentist,patient, and physician. Dental treatments should be conservative and stress free for the patient.Prevention of dental disease and infections are of the up most importance to the sickle cell patient.If your patient has sickle cell disease, know about it and talk to your patient about the disease.Maintaining excellent oral health to decrease the possibility of oral infections will ensure the best care for these patients.Key words: communication, sickle cell disease (SCD), sickle cell anemia (SCA), blood inherited disorder, sickle cell trait, crisis, African Americans, deoxygenation, hemoglobin,supporting dentist, prophylactic antibiotics, and infection.

  17. Frequency and origin of haplotypes associated with the beta-globin gene cluster in individuals with trait and sickle cell anemia in the Atlantic and Pacific coastal regions of Colombia.

    Science.gov (United States)

    Fong, Cristian; Lizarralde-Iragorri, María Alejandra; Rojas-Gallardo, Diana; Barreto, Guillermo

    2013-12-01

    Sickle cell anemia is a genetic disease with high prevalence in people of African descent. There are five typical haplotypes associated with this disease and the haplotypes associated with the beta-globin gene cluster have been used to establish the origin of African-descendant people in America. In this work, we determined the frequency and the origin of haplotypes associated with hemoglobin S in a sample of individuals with sickle cell anemia (HbSS) and sickle cell hemoglobin trait (HbAS) in coastal regions of Colombia. Blood samples from 71 HbAS and 79 HbSS individuals were obtained. Haplotypes were determined based on the presence of variable restriction sites within the β-globin gene cluster. On the Pacific coast of Colombia the most frequent haplotype was Benin, while on the Atlantic coast Bantu was marginally higher than Benin. Eight atypical haplotypes were observed on both coasts, being more diverse in the Atlantic than in the Pacific region. These results suggest a differential settlement of the coasts, dependent on where slaves were brought from, either from the Gulf of Guinea or from Angola, where the haplotype distributions are similar. Atypical haplotypes probably originated from point mutations that lost or gained a restriction site and/or by recombination events.

  18. Frequency and origin of haplotypes associated with the beta-globin gene cluster in individuals with trait and sickle cell anemia in the Atlantic and Pacific coastal regions of Colombia

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    Cristian Fong

    2013-01-01

    Full Text Available Sickle cell anemia is a genetic disease with high prevalence in people of African descent. There are five typical haplotypes associated with this disease and the haplotypes associated with the beta-globin gene cluster have been used to establish the origin of African-descendant people in America. In this work, we determined the frequency and the origin of haplotypes associated with hemoglobin S in a sample of individuals with sickle cell anemia (HbSS and sickle cell hemoglobin trait (HbAS in coastal regions of Colombia. Blood samples from 71 HbAS and 79 HbSS individuals were obtained. Haplotypes were determined based on the presence of variable restriction sites within the β-globin gene cluster. On the Pacific coast of Colombia the most frequent haplotype was Benin, while on the Atlantic coast Bantu was marginally higher than Benin. Eight atypical haplotypes were observed on both coasts, being more diverse in the Atlantic than in the Pacific region. These results suggest a differential settlement of the coasts, dependent on where slaves were brought from, either from the Gulf of Guinea or from Angola, where the haplotype distributions are similar. Atypical haplotypes probably originated from point mutations that lost or gained a restriction site and/or by recombination events.

  19. Stroke in patients with sickle cell disease: clinical and neurological aspects Acidente cerebrovascular em pacientes com anemia falciforme: aspectos clínicos e neurológicos

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    Carolina Camargo de Oliveira

    2008-03-01

    Full Text Available The aim of this study was to characterize a group of patients (n=8 with sickle cell disease (SCD and ischemic stroke concerning the clinical, neurological, imaging and progressive aspects. Data were collected from records and completed with an interview of patients and their parents. In this study there were 8 patients with ages ranging from 10 to 23 years old; SCD diagnosis was given between one and two years of age with clinical features of fatigue and anemia. The stroke was ischemic in all individuals and the first cerebrovascular event occurred before 6 years of age; 3 patients had recurrence of stroke despite prophylactic blood transfusion therapy and both cerebral hemispheres were affected in 4 patients. Clinical and neurological current features observed were: acute pain crises, sialorrhea, mouth breathing, motor, and neuropsychological impairments resulting from cortical-subcortical structure lesions.O objetivo deste estudo foi caracterizar um grupo de sujeitos (n=8 com antecedentes de anemia falciforme (AF e acidente vascular cerebral (AVC isquêmico, dos pontos de vista clínico, neurológico, radiológico e evolutivo, reavaliados através de exame neurológico e neuropsicológico. A partir de prontuários dos sujeitos com diagnóstico comprovado de AF e AVC, coletamos dados, complementados por entrevista com pacientes e responsáveis. Foram avaliados 8 pacientes; atualmente com idades entre 10 e 23 anos; diagnóstico da AF entre um e dois anos; quadro clínico de fraqueza e anemia. Em todos, o AVC foi isquêmico e o primeiro evento na maioria ocorreu antes dos 6 anos de idade; houve recorrência do AVC em 3, apesar da profilaxia com transfusão sanguínea; ambos os hemisférios afetados em 4; no quadro clínico e neurológico atual constatamos crises dolorosas, sialorréia, respiração oral e importante comprometimento motor e neuropsicológico, resultantes de lesões estruturais cortico-subcorticais.

  20. EXpanding Treatment for Existing Neurological Disease (EXTEND): An Open-Label Phase II Clinical Trial of Hydroxyurea Treatment in Sickle Cell Anemia

    Science.gov (United States)

    Little, Courtney R; Reid, Marvin E; Soares, Deanne P; Taylor-Bryan, Carolyn; Knight-Madden, Jennifer M; Stuber, Susan E; Badaloo, Asha V; Aldred, Karen; Wisdom-Phipps, Margaret E; Latham, Teresa; Ware, Russell E

    2016-01-01

    Background Cerebral vasculopathy in sickle cell anemia (SCA) begins in childhood and features intracranial arterial stenosis with high risk of ischemic stroke. Stroke risk can be reduced by transcranial doppler (TCD) screening and chronic transfusion therapy; however, this approach is impractical in many developing countries. Accumulating evidence supports the use of hydroxyurea for the prevention and treatment of cerebrovascular disease in children with SCA. Recently we reported that hydroxyurea significantly reduced the conversion from conditional TCD velocities to abnormal velocities; whether hydroxyurea can be used for children with newly diagnosed severe cerebrovascular disease in place of starting transfusion therapy remains unknown. Objective The primary objective of the EXpanding Treatment for Existing Neurological Disease (EXTEND) trial is to investigate the effect of open label hydroxyurea on the maximum time-averaged mean velocity (TAMV) after 18 months of treatment compared to the pre-treatment value. Secondary objectives include the effects of hydroxyurea on serial TCD velocities, the incidence of neurological and non-neurological events, quality of life (QOL), body composition and metabolism, toxicity and treatment response, changes to brain magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA), genetic and serologic markers of disease severity, and cognitive and pulmonary function. Methods This prospective Phase II trial will enroll children with SCA in Jamaica, between the ages of 2 and 17 years, with either conditional (170-199 cm/sec) or abnormal (≥ 200 cm/sec) TCD velocities. Oral hydroxyurea will be administered daily and escalated to the maximum tolerated dose (MTD). Participants will be seen in the Sickle Cell Unit (SCU) in Kingston, Jamaica monthly until achieving MTD, and then every 3 months. TCD will be performed every 6 months. Results Currently, 43 participants have been enrolled out of a projected 50. There was one

  1. Adesão à antibioticoterapia profilática em crianças com anemia falciforme: um estudo prospectivo Compliance with antibiotic prophylaxis in children with sickle cell anemia: a prospective study

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    Enio Latini Bitarães

    2008-08-01

    Full Text Available OBJETIVO: Avaliar a adesão a antibiótico profilático em crianças com anemia falciforme. MÉTODOS: Estudo prospectivo de 108 crianças (idade entre 3 meses e 4,5 anos, 45% masculino seguidas por 15 meses no Hemocentro de Belo Horizonte. Avaliou-se a adesão por meio de três entrevistas com cuidadores, análise de prontuário médico e atividade antibacteriana em uma amostra de urina em 81 crianças. Os antibióticos foram dispensados gratuitamente. RESULTADOS: Penicilina foi usada em 106 casos (maioria via oral, e eritromicina, dois casos. O antibiótico foi detectado na urina de 56% das crianças; 48% dos cuidadores afirmaram nas entrevistas que nenhuma dose deixou de ser administrada; em 89% dos prontuários médicos, não se registrou falha de adesão. Considerando-se aderente a criança que não apresentasse falhas em nenhum ou em apenas um dos métodos, a taxa de adesão foi de 67%. O grau de concordância entre os três métodos para medir a adesão foi baixo. Não se demonstrou qualquer associação entre a taxa de adesão e o gênero, estado nutricional, renda familiar per capita, nível educacional dos cuidadores ou número de membros da família. CONCLUSÕES: A taxa de adesão à antibioticoterapia profilática foi baixa quando avaliada por meio de questionários e testes urinários, e superestimada quando avaliada pela consulta ao prontuário médico. A adesão deve ser preferencialmente avaliada por vários métodos, pois sua mensuração é complexa. Os resultados do presente estudo sugerem a necessidade de programas educacionais abrangentes para os profissionais de saúde, para as famílias e crianças portadoras de anemia falciforme.OBJECTIVE: To prospectively assess compliance with antibiotic prophylaxis among children with sickle cell anemia. METHODS: A total of 108 children (aged 3 months to 4½ years, 45% male were recruited from the Hematology Center in Belo Horizonte, Brazil, and followed up for 15 months. Data on

  2. ``Tower vertebra``: a new observation in sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Marlow, T.J. [Department of Radiology, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425 (United States); Brunson, C.Y. [Department of Internal Medicine, Division of Hematology/Oncology, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425 (United States); Jackson, S. [Department of Pediatrics, Division of Hematology/Oncology, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425 (United States); Schabel, S.I. [Department of Radiology, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425 (United States)

    1998-04-01

    Background. Skeletal abnormalities are common in sickle cell anemia. Ischemia, infarction, and growth disturbance of the thoracic and lumbar vertebral bodies are among the most common abnormalities, and can suggest the diagnosis radiographically. Design and patients. We recently encountered two adult patients in whom vertebrae had grown abnormally in height adjacent to infarcted short vertebrae. We then reviewed the thoracic and lumbar spine radiographs of 54 more adult patients with sickle cell anemia. Results and conclusion. A total of eight patients (14%) displayed infarcted vertebrae with compensatory vertical growth of at least one adjacent vertebrae. These resemble the elongated vertebral bodies associated with other conditions. We can find no prior report of this finding in association with sickle cell anemia. (orig.) With 3 figs., 10 refs.

  3. Informação genética na mídia impressa: a anemia falciforme em questão Genetic information in the written media: sickle cell anemia at issue

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    Debora Diniz

    2006-12-01

    Full Text Available O artigo analisa o discurso da mídia sobre a anemia falciforme. O objetivo é conhecer e analisar o conteúdo das mensagens veiculadas pela mídia impressa sobre a anemia falciforme, doença genética mais prevalente no País. Foram analisadas todas as matérias publicadas sobre o tema da anemia falciforme, entre 1998 e 2002, nos jornais A Tarde (BA, 41 matérias e Folha de S. Paulo (SP, 25 matérias. Para a análise foram selecionadas quatro variáveis: a prevenção, a conscientização do risco, o aconselhamento genético e o recorte racial da doença. A análise das matérias identificou um forte apelo preventivo que acompanha as informações sobre anemia falciforme. O tema da prevenção em genética traz uma série de desafios éticos, em especial dada a impossibilidade legal de interrupção da gestação em casos de diagnóstico de anemia falciforme no feto, o que faz com que haja uma ênfase nos cuidados reprodutivos pré-concepção. No caso da anemia falciforme, a pesquisa mostra ainda que há um apelo no sentido de chamar as pessoas a identificar a doença e buscar atendimento especializado. Mas há também a ênfase na idéia de que as pessoas informadas podem contribuir para prevenir o avanço da doença. Mediar essa tênue fronteira entre prevenção e reconhecimento das liberdades individuais pode ser considerado um desafio não só para a saúde pública, mas também para os meios de comunicação.This article examines the strategies used by the media to approach and disseminate information about the most prevalent genetic disease in Brazil, sickle cell anemia. In this investigation we analyzed all articles on this matter published between 1998 and 2002 in two newspapers: A Tarde (State of Bahia, 41 articles and Folha de S. Paulo (State of São Paulo, 25 articles. We selected four variables: prevention, risk awareness, genetic counseling and the racial dimension of the disease. The results revealed that the national media were

  4. Evaluation of Fe and Zn/Cu ratio in serum of patients with sickle cell anemia by total reflection X-ray fluorescence using synchrotron radiation

    Energy Technology Data Exchange (ETDEWEB)

    Canellas, Catarine G.L.; Leitao, Roberta G.; Lopes, Ricardo T., E-mail: catarine@lin.ufrj.b, E-mail: ricardo@lin.ufrj.b [Universidade Federal do Rio de Janeiro (PEN/COPPE/UFRJ), RJ (Brazil). Coordenacao dos Programas de Pos-Graduacao de Engenharia. Programa de Engenharia Nuclear. Lab. de Instrumentaco Nuclear; Carvalho, Silvia M.F., E-mail: silvia@hemorio.rj.gov.b [State Institute of Hematology Arthur de Siqueira Cavalcanti (HEMORIO), Rio de Janeiro, RJ (Brazil); Bellido, Alfredo Victor B., E-mail: alfredo@ien.gov.b [Federal Fluminense University (UFF), Niteroi, RJ (Brazil). Chemistry Inst.; Anjos, Marcelino J., E-mail: marcelin@lin.ufrj.b [State University of Rio de Janeiro (UERJ), RJ (Brazil). Physics Inst.

    2011-07-01

    Sickle cell anemia (SCA) is a blood disorder that affects hemoglobin, the protein found in red blood cells that help carry oxygen throughout the body. In this work we have analyzed serum samples from patients with SCA by using total reflection X-ray fluorescence using synchrotron radiation (SRTXRF). The SRTXRF measurements were performed at the X-ray fluorescence beamline at Brazilian National Synchrotron Light Laboratory (LNLS), in Campinas, Sao Paulo using a polychromatic beam. We have studied forty-three patients aged 18-50 years old, suffering from SCA and Sixty healthy volunteers aged 18-60 years old. It was possible to determine the concentrations of the following elements: P, S, Cl, K, Ca, Fe, Cu, Zn, Br and Rb. Student's t-test was applied in order to check whether the two populations (CG x SCA) had the same mean values. It was observed that elemental concentration of P, Cl, K, Fe, Cu, Zn and Br differed significantly ({alpha} = 0.05) between groups of healthy subjects and SCA. The concentrations of K, Fe and Cu in the serum samples of patients with SCA were larger 15%, 120 % and 20 %, respectively, when compared with the CG. On the other hand, the concentrations of P (-20 %), Cl (-6 %), Zn (-25 %) and Br (-22 %) were smaller than the values determined for the control group. The serum level Cu/Zn ratio was significantly higher (60%) in the serum samples of patients with SCA group than the CG. So, the Cu/Zn ratio can be used as an adjuvant index in enhancement for diagnosis of SCA. There are evidences of an association among Fe, Cu, Zn and Cu/Zn in the SCA pathogenesis process. (author)

  5. [Sickle cell pathophysiology].

    Science.gov (United States)

    Renaudier, P

    2014-11-01

    Sickle cell disease is associated with the inversion of one base pair (A = T → A = T). The sixth codon of the beta globin chain [GAA] becomes [GTA]. Accordingly, the sixth amino acid (glutamic acid, negatively charged) is replaced by valine, hydrophobic. A hydrophobic site is present on the outside of the HbS β chain. This incurs a hydrophobic bond with the phenylalanine in position 85 and leucine in position 88, in which outsource deoxy haemoglobin. Therefore, it creates a HbS polymer that deforms the red blood cell and causes vaso-occlusive crisis in the capillary venous pole. In this conventional design, the roles are added to the nitrogen monoxide and vascular tone, the increase in adhesion of red blood cells to the endothelium damage caused by red blood cells HbS: dehydration, senescence, formation of microvesicles. If these advances in our understanding of the pathophysiology have not yet had a clinical application, they will happen one day. It is therefore particularly important to pursue in France the network structure of sickle cell disease with a view to set up multicenter trials when the day comes.

  6. Latest Sickle Cell Research | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... this page please turn Javascript on. Special Section: Sickle Cell Disease Latest Sickle Cell Research Past Issues / Winter 2011 Table of Contents ... Complications of sickle cell trait 100 Years of Sickle Cell Research Dr. James B. Herrick Photo: National Library ...

  7. Effects of carbon dioxide and pH variations in vitro on blood respiratory functions, red blood cell volume, transmembrane pH gradients, and sickling in sickle cell anemia

    Energy Technology Data Exchange (ETDEWEB)

    Ueda, Y.; Bookchin, R.M.

    1984-08-01

    An examination was made of the O/sub 2/ affinity, Bohr effect, transmembrane pH gradient, mean cell hemoglobin concentration, and red blood cell sickling at half O/sub 2/ saturation in whole sickle cell (SS) and normal (AA) blood during CO/sub 2/ titration and acid-base titration at three Pco/sub 2/ levels, 10, 40, and 80 mm Hg. The CO/sub 2/-induced Bohr effect of SS blood was considerably larger than normal (maximum, 0.91, referred to cell pH) and similar to that found with acid-base titration at Pco/sub 2/ of 40. In contrast to AA blood, SS blood showed an increased O/sub 2/ affinity when Pco/sub 2/ was raised from 40 to 80, and at half O/sub 2/ saturation showed biphasic or sigmoid Bohr curves, a fall in transmembrane pH gradient with rising Pco/sub 2/, and an absence of the normal cell volume increase at low pH and Pco/sub 2/. Sickling of SS cells at half O/sub 2/ saturation was partly inhibited by increasing Pc/sub 2/, particularly in the higher pH ranges. These complex differences in the behavior of SS blood are interpreted in terms of the balancing of several effects: the lowering of hemoglobin O/sub 2/-affinity by polymerization, low pH and increased CO/sub 2/ binding, inhibition of hemoglobin S polymerization by CO/sub 2/ binding to ..beta../sup s/-chain amino termini, differences between hemoglobin S and A in competitive binding of CO/sub 2/ and 2,3-diphosphoglycerate at different pH levels, and an increased net negative charge exhibited by intracellular deoxyhemoglobin S polymers. From a clinical standpoint, in the absence of hypoxia or acidosis, an increased blood Pco/sub 2/ might have a beneficial effect by inhibiting red blood cell sickling, whereas a metabolic acidosis, with low blood pH and Pco/sub 2/, would be very hazardous.

  8. O cotidiano das famílias de crianças e adolescentes portadores de anemia falciforme The day-to-day life of families with children and adolescents with sickle cell anemia

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    Tania M. R. Guimarães

    2009-02-01

    Full Text Available A anemia falciforme (AF é a doença mais comum entre as hemoglobinopatias, caracterizada por uma mutação genética que compromete as funções das hemácias, desencadeando crises de vaso-oclusão e predisposições às infecções. O objetivo deste trabalho foi analisar o cotidiano das famílias com filho portador de AF. Foi feito estudo descritivo, exploratório e qualitativo. O método utilizado foi a gravação de dez entrevistas semiestruturadas com os familiares de menores de 18 anos portadores de AF, atendidos em outubro de 2007 no Hemope. A seleção dos sujeitos foi residir e ter parentesco em primeiro grau do paciente. O critério de exclusão foi a criança apresentar risco de morte. O tamanho da amostra seguiu os critérios de saturação dos discursos de Mynaio.12 Na avaliação empregou-se a técnica de "Análise de Conteúdo" de Bardin.13 As falas obtidas foram transcritas integralmente e agrupadas de acordo com a semelhança, buscando os sentimentos relevantes que originaram códigos e temas: 1. Tema: Envolvimento da família (subtema: exclusividade da atenção; códigos: superproteção, abrindo mão de outros papéis, sobrecarga materna, aprendendo com a doença; 2. Tema: Impacto da doença (subtema: doença crônica afetando a família; códigos: não aceitação, temor da morte; 3. Tema: Enfrentando desafios (subtemas: redes de apoio, serviço de saúde; códigos: apoio espiritual, profissional e familiar; estrutura hospitalar. Verificamos dificuldades na aceitação da doença pela família e uma sobrecarga materna na realização dos cuidados. Os modelos assistenciais devem permitir que a família atue como coparticipante nos cuidados de forma a facilitar a adaptação do paciente à doença.Sickle cell anemic is a common disorder among hemoglobinopatias, characterized by a genetic mutation which affects the function of the red blood cells, causing episodes of vaso-occlusion and predisposing sufferers to infections. This

  9. Complicações neurológicas em anemia falciforme: avaliação neuropsicológica do desenvolvimento com o NEPSY Neurological complications in sickle cell anemia: a developmental neuropsychological assessment using NEPSY

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    Samantha Nunest

    2010-01-01

    Full Text Available Estudo de caso de duas crianças portadoras de anemia falciforme, com complicações neurológicas. Utilizou-se uma ampla bateria neuropsicológica - NEPSY. Uma criança apresentou acidente vascular cerebral com paresia de hemicorpo esquerdo, e a outra, ataque isquêmico transitório. As avaliações neuropsicológicas demonstraram que havia extenso prejuízo cognitivo no primeiro caso, em contraste com comprometimento leve no segundo. Baixas pontuações nas funções de atenção visual, memória operacional, linguagem, flexibilidade cognitiva, habilidades sensório-motora, visoespacial e viso-construtiva. Rebaixamento intelectual e no desempenho acadêmico foram encontrados no paciente que sofreu o acidente isquêmico. A criança que foi acometida por ataque isquêmico transitório apresentou dispraxia motora e oromotora, diminuição da atenção visual e memória verbal. Estes achados corroboram com os dados encontrados na literatura e reforçam a relevância de conhecer a tipologia destas alterações para intervir precocemente na deficiência cognitiva, minimizando as repercussões no desenvolvimento cognitivo, acadêmico e psicossocial.This is a case study of two children with sickle cell anemia and neurological complications. An extensive series of neuropsychological tests - NEPSY was used in the evaluation of the children. One child had suffered an ischemic stroke with left hemiparesis and the other, transient ischemic attack. The neuropsychological assessment showed extensive cognitive damage in the first case, in contrast to mild impairment in the second. Low scores were found for tasks of visual attention, operational memory, language, cognitive flexibility and for sensory-motor, visuospatial and visuoconstructive skills. Low intellectual and academic performance was found in the patient who suffered ischemic stroke. The child who suffered transient ischemic attack showed motor and oromotor dyspraxia, and decreased visual attention

  10. Reação transfusional hiper-hemolítica em pacientes portadores de anemia falciforme: relato de dois casos Hyper-hemolytic transfusional reaction in sickle cell patients: two case reports

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    Cláudia C.S. Naufel

    2002-12-01

    Full Text Available O caráter crônico da anemia, nos pacientes portadores de anemia falciforme, associado à maior capacidade de liberação de oxigênio pela Hb S, faz com que sejam pouco sintomáticos em relação à anemia e não necessitem de forma rotineira de transfusão de hemácias. Contudo, na vigência de complicações agudas, a queda adicional da hemoglobina pode precipitar descompensação da função cardio-respiratória e colocar em risco a vida do paciente, tornando a transfusão de sangue um recurso terapêutico de grande importância. Em virtude da elevada freqüência de transfusões a que esses pacientes são submetidos, é de fundamental importância o conhecimento dos principais riscos e o diagnóstico adequado das complicações decorrentes da terapia transfusional. Uma forma atípica de reação transfusional, denominada reação transfusional hiperhemolítica, foi descrita recentemente em pacientes com anemia falciforme após transfusão de hemácias aparentemente compatíveis. (4,5,6,7 Nesta condição, transfusões ulteriores podem exacerbar o quadro hemolítico e colocar em risco a vida do paciente. Os mecanismos patofisiológicos exatos dessa entidade ainda não são bem conhecidos e o tratamento consiste na suspensão da transfusão, corticoterapia e/ou administração de imunoglobulina. O objetivo deste trabalho é apresentar o relato de dois casos de reação transfusional hiperhemolítica em pacientes portadores de anemia falciforme.The chronic character of sickle cell anemia associated with the greater capacity to liberate oxygen by the Hb S, results in patients exhibiting few symptoms in relation to the anemia and they do not require regular hemacias transfusions. Nevertheless, in the face of acute complications, the additional drop in hemoglobin can precipitate an imbalance in the cardio-respiratory function and put the life of the patient at risk, making blood transfusion therapy of utmost importance. In the light of the

  11. GBT440 inhibits sickling of sickle cell trait blood under in vitro conditions mimicking strenuous exercise

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    Kobina Dufu

    2016-09-01

    Full Text Available In sickle cell trait (SCT, hemoglobin A (HbA and S (HbS are co-expressed in each red blood cell (RBC. While homozygous expression of HbS (HbSS leads to polymerization and sickling of RBCs resulting in sickle cell disease (SCD characterized by hemolytic anemia, painful vaso-occlusive episodes and shortened life-span, SCT is considered a benign condition usually with minor or no complications related to sickling. However, physical activities that cause increased tissue oxygen demand, dehydration and/or metabolic acidosis leads to increased HbS polymerization and life-threatening complications including death. We report that GBT440, an agent being developed for the treatment of SCD, increases the affinity of oxygen for Hb and inhibits in vitro polymerization of a mixture of HbS and HbA that simulates SCT blood. Moreover, GBT440 prevents sickling of SCT blood under in vitro conditions mimicking strenuous exercise with hypoxia, dehydration and acidosis. Together, our results indicate that GBT440 may have the potential to protect SCT individuals from sickling-related complications during conditions that favor HbS polymerization.

  12. Importância da avaliação da hemoglobina fetal na clínica da anemia falciforme The importance of the evaluation of fetal hemoglobin in the clinical assessment of sickle cell disease

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    Rita de Cassia Mousinho-Ribeiro

    2008-04-01

    Full Text Available A anemia falciforme está entre as doenças genéticas mais comuns e mais estudadas em todo o mundo. Ela é causada por mutação no gene β, produzindo alteração estrutural na molécula da hemoglobina. As moléculas de HbS, decorrentes da mutação, sofrem processo de polimerização fisiologicamente provocado pela baixa tensão de oxigênio, acidose e desidratação. Com isso, os eritrócitos passam a apresentar a forma de foice, causando vaso-oclusão e outras conseqüências. O objetivo desse estudo foi revisar a importância da hemoglobina fetal na clínica de pacientes portadores de anemia falciforme. O significado clínico da associação da elevação da hemoglobina fetal na anemia falciforme mostra-se favorável em termos hematológicos, pois, nessa interação, as células-F têm baixas concentrações de HbS e, com isso, inibem a polimerização da HbS e a alteração da morfologia dos eritrócitos. O tratamento com hidroxiuréia, em função do aumento na expressão da hemoglobina fetal que este fármaco proporciona, traz aos pacientes falcêmicos uma melhora significativa em sua clínica. Portanto, a hemoglobina fetal consiste no maior inibidor da polimerização da desoxi-HbS e, com isso, evita a falcização do eritrócito, a anemia hemolítica crônica, as crises dolorosas vaso-oclusivas, o infarto e a necrose em diversos órgãos, melhorando a clínica e a expectativa de vida dos pacientes.Sickle cell disease is one of the commonest and most studied genetic diseases in the world. Caused by a mutation of the β gene, it changes the molecular structure of hemoglobin. Abnormal Hb S molecules suffer polymerization physiologically provoked by a low oxygen tension, acidosis and dehydration. As a result, red blood cells take on a sickle cell form, which causes microvascular occlusion with varying consequences. The objective of this study was to review the importance of fetal hemoglobin in the clinical assessment of sickle cell

  13. Socio-demographic factors associated with asymptomatic bacteriuria in children with sickle cell anemia in a tertiary health facility in South eastern, Nigeria

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    B F Chukwu

    2010-01-01

    Full Text Available Background: Urinary tract infection (UTI is a common cause of chronic kidney disease in children. It is second only to respiratory tract infection in developed countries as a cause of morbidity and mortality arising from microbial infections. It is also common in a developing country like Nigeria and is the commonest cause of renal disorders in Port Harcourt, South South, Nigeria. UTI can be symptomatic or asymptomatic (asymptomatic bacteriuria. Asymptomatic bacteriuria is said to be more common in school aged girls and children of low socio-economic class. It has also been documented to be more common in children with sickle cell anaemia. Objectives:To determine the relationship between asymptomatic bacteriuria and age, sex and socio-economic status of children with sickle cell anaemia. Methods: One hundred children with sickle cell anaemia in stable state were screened for asymptomatic bacteriuria using midstream urine samples. The age, sex and social class of the children were obtained through a structured questionnaire administered to the parents/care-givers. The relationship between age, sex and social class with asymptomatic bacteriuria in these children was analyzed using SPSS software. Results: The age of the children ranged from 2-12 years. Six of the 100 children were noted to have asymptomatic bacteriuria and five of the six children were females (p=0.04.Five (83.3% of the six children were five years and above. There was a predominance of positive cases (66.7% in the higher socioeconomic class (p=0.03. Conclusion: Asymptomatic bacteriuria is commoner in school aged female sickle cell anaemia children of higher socioeconomic class. However, we suggest that further studies be done to confirm this finding especially with regards to the socioeconomic status of these children.

  14. Structural analysis of the 5 prime flanking region of the. beta. -globin gene in African sickle cell anemia patients: Further evidence for three origins of the sickle cell mutation in Africa

    Energy Technology Data Exchange (ETDEWEB)

    Chebloune, Y.; Pagnier, J.; Trabuchet, G.; Faure, C.; Verdier, G.; Labie, D.; Nigon, V. (Universite Claude Bernard-Lyon, Villeurbane (France))

    1988-06-01

    Haplotype analysis of the {beta}-globin gene cluster shows two regions of DNA characterized by nonrandom association of restriction site polymorphisms. These regions are separated by a variable segment containing the repeated sequences (ATTTT){sub n} and (AT){sub x}T{sub y}, which might be involved in recombinational events. Studies of haplotypes linked to the sickle cell gene in Africa provide strong argument for three origins of the mutation: Benin, Senegal, and the Central African Republic. The structure of the variable segment in the three African populations was studied by S1 nuclease mapping of genomic DNA, which allows a comparison of several samples. A 1080-base-pair DNA segment was sequenced for one sample from each population. S1 nuclease mapping confirmed the homogeneity of each population with regard to both (ATTTT){sub n} and (AT){sub x}T{sub y} repeats. The authors found three additional structures for (AT){sub x}T{sub y} correlating with the geographic origin of the patients. Ten other nucleotide positions, 5{prime} and 3{prime} to the (AT){sub x}T{sub y} copies, were found to be variable when compared to homologous sequences from human and monkey DNAs. These results allow us to propose an evolutionary scheme for the polymorphisms in the 5{prime} flanking region of the {beta}-globin gene. The results strongly support the hypothesis of three origins for the sickle mutation in Africa.

  15. How Is Sickle Cell Disease Diagnosed?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Sickle Cell Disease Diagnosed? Screening Tests People who do not ... Content: NEXT >> Featured Video Living With and Managing Sickle Cell Disease (Nicholas) 09/02/2011 In this video— ...

  16. How Is Sickle Cell Disease Treated?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Sickle Cell Disease Treated? Health Maintenance To Prevent Complications Babies ... Content: NEXT >> Featured Video Living With and Managing Sickle Cell Disease (Nicholas) 09/02/2011 In this video— ...

  17. Living Well with Sickle Cell Disease

    Science.gov (United States)

    ... Information For... Media Policy Makers Living Well with Sickle Cell Disease Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir People with sickle cell disease can live full lives and enjoy most of ...

  18. Sickle Cell Disease and Pulmonary Hypertension

    Science.gov (United States)

    Sickle Cell Disease Pulmonary & PH Hypertension Did you know that if you have Sickle Cell Disease you are at risk for Pulmonary Hypertension? ... for example), chronic liver disease, congenital heart disease, sickle cell disease and HIV infection. Finally, PAH can be ...

  19. Molecular genetic studies in black families with sickle cell anemia and unusually high levels of fetal hemoglobin.

    Science.gov (United States)

    Seltzer, W K; Abshire, T C; Lane, P A; Roloff, J S; Githens, J H

    1992-01-01

    Clinical, hematologic, and molecular genetic studies are reported for five families with SS patients having unusually high fetal hemoglobin (Hb F) levels (mean 28.3%, range 19-42%). Some of the individuals were symptom-free and one was not anemic. However, some were symptomatic despite a very high Hb F. Neither the Hb F level nor the F cell distribution entirely explained the variation in clinical severity. Molecular genetic studies identified the Senegal haplotype with the associated -158 G gamma (C----T) mutation in two of the five families. The -202 G gamma (C----G) mutation was not found in any of the individuals studied. Sequencing of the gamma-globin gene promoters to detect genetic high F determinants not detectable by restriction digestion was not performed. All AS parents and AS siblings demonstrated elevated F cells when the Senegal/-158 G gamma (C----T) mutation was present with either the beta S or beta A allele. Double heterozygosity for two different high F determinants in some SS patients is suggested by the studies in at least one family. Discordance among siblings in clinical and hematologic manifestations in two families provides additional evidence for loci regulating Hb F cell production which are not linked to the beta-globin gene clusters.

  20. A prospective diary study of stuttering priapism in adolescents and young men with sickle cell anemia: report of an international randomized control trial--the priapism in sickle cell study.

    Science.gov (United States)

    Olujohungbe, Ade B; Adeyoju, Adebanji; Yardumian, Anne; Akinyanju, Olu; Morris, Julie; Westerdale, Neil; Akenova, Yetunde; Kehinde, M O; Anie, Kofie; Howard, Joanna; Brooks, Adrian; Davis, Verna Angus; Khoriatry, Adlette Inati

    2011-01-01

    Priapism is defined as a prolonged, persistent, and purposeless penile erection. It is a common (35%) but frequently understated complication in young men and adults with sickle cell disease. We had previously demonstrated an association between stuttering attacks (stuttering attacks of priapism. One hundred thirty-one patients were registered into a 2-phase (observational and intervention phase) study, and 86 patients (66%) completed Phase A diary charts. Forty-six patients (59%) completed a 6-month treatment phase (Phase B), and the remaining patients were lost to follow-up despite persistent efforts to contact them. Various reasons are postulated for the high attrition rates. The drugs were well tolerated, and no serious adverse events were reported. There was no significant difference among the 4 treatment groups in the weekly total number of attacks in Phase B (analysis of covariance P = .99) nor among the average pain score per attack after adjusting for attack rates and pain scores in Phase A (analysis of covariance P = .33). None of the patients who completed the study required penile aspiration at study sites while on medical prophylaxis. Young men with sickle cell disease are not comfortable engaging with health care providers about issues relating to their sexual health. The full impact of an improved awareness campaign and early presentation to hospital merits further standardized study. Priapism still contributes seriously to the comorbidity experienced by this previously inaccessible group of patients and medical prophylaxis with oral α-adrenergic agonists is feasible. Future international collaborative efforts using some of the lessons learnt in this study should be undertaken.

  1. Cerebrovascular accidents in sickle cell disease: rates and risk factors.

    Science.gov (United States)

    Ohene-Frempong, K; Weiner, S J; Sleeper, L A; Miller, S T; Embury, S; Moohr, J W; Wethers, D L; Pegelow, C H; Gill, F M

    1998-01-01

    Cerebrovascular accident (CVA) is a major complication of sickle cell disease. The incidence and mortality of and risk factors for CVA in sickle cell disease patients in the United States have been reported only in small patient samples. The Cooperative Study of Sickle Cell Disease collected clinical data on 4,082 sickle cell disease patients enrolled from 1978 to 1988. Patients were followed for an average of 5.2 +/- 2.0 years. Age-specific prevalence and incidence rates of CVA in patients with the common genotypes of sickle cell disease were determined, and the effects of hematologic and clinical events on the risk of CVA were analyzed. The highest rates of prevalence of CVA (4.01%) and incidence (0.61 per 100 patient-years) were in sickle cell anemia (SS) patients, but CVA occurred in all common genotypes. The incidence of infarctive CVA was lowest in SS patients 20 to 29 years of age and higher in children and older patients. Conversely, the incidence of hemorrhagic stroke in SS patients was highest among patients aged 20 to 29 years. Across all ages the mortality rate was 26% in the 2 weeks after hemorrhagic stroke. No deaths occurred after infarctive stroke. Risk factors for infarctive stroke included prior transient ischemic attack, low steady-state hemoglobin concentration and rate of and recent episode of acute chest syndrome, and elevated systolic blood pressure. Hemorrhagic stroke was associated with low steady-state hemoglobin and high leukocyte count.

  2. Regularidade de ciclos e padrão ovulatório em jovens portadoras de anemia falciforme Regularity of cycles and ovulatory pattern in young women with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    José Wilson Viana Júnior

    2010-11-01

    Full Text Available OBJETIVO: avaliar as características do ciclo menstrual e identificar a ocorrência de ovulação em mulheres jovens nuligestas portadoras de anemia falciforme (AF. MÉTODOS: foi realizado um estudo de caso-controle, incluindo 26 mulheres nuligestas, durante a menacme, divididas em dois grupos: Grupo "Casos", contendo 13 portadoras de AF, e Grupo "Controle", com 13 mulheres saudáveis com mesmo intervalo desde a menarca. As características do ciclo menstrual foram informadas pelas participantes, que também foram submetidas a dosagens de progesterona sérica, curvas de temperatura basal e ecografias transabdominais em três ciclos consecutivos (total: 78 ciclos, com a finalidade de identificar a ocorrência de ovulação. Os resultados dos dois grupos foram comparados com o uso dos testes não paramétricos de Mann-Whitney ou Kruskal Wallis, sendo significativas as diferenças cujo valor p PURPOSE: to evaluate the characteristics of the menstrual cycle and to identify the occurrence of ovulation in nulliparous young women with sickle cell anemia (SCA. METHODS: we conducted a case-control study including 26 nulliparous women of reproductive age, divided into two groups: "cases", consisting of 13 women with SCA, and "Control" Group, consisting of 13 healthy women with the same interval since menarche. The characteristics of the menstrual cycle were reported by the participants, who were also submitted to measurements of serum progesterone, basal body temperature curves and transabdominal ultrasound in three consecutive cycles (total: 78 cycles in order to identify the occurrence of ovulation. The results were compared between groups using the nonparametric Mann-Whitney or Kruskal Wallis tests, and the differences were considered significant when p-value < 0.05. RESULTS: no significant difference was found in mean chronological age between the two groups (p = 0.2 in the pattern of the menstrual cycle when duration of flow (p = 0.4 and interval

  3. Qualidade de sono e função pulmonar em adolescentes portadores de anemia falciforme clinicamente estáveis Quality of sleep and pulmonary function in clinically stable adolescents with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Lisliê Capoulade Nogueira Arrais de Souza

    2007-06-01

    Full Text Available OBJETIVO: Avaliar a qualidade de sono e função pulmonar em adolescentes portadores de anemia falciforme (AF, clinicamente estáveis. MÉTODOS: Estudo trasversal descritivo de 50 pacientes portadores de AF submetidos a polissonografia noturna e espirometria no Hospital Universitário de Brasília. Analisamos dados antropométricos, polissonográficos e de função pulmonar. Dividimos os pacientes em dois grupos segundo a saturação periférica de oxigênio (SpO2 em sono com movimentos oculares rápidos (MOR: SpO2 93%. Realizamos estatística descritiva, teste t de Student, qui-quadrado e correlação de Pearson. RESULTADOS: A média de idade foi de 13,9 ± 2,5 anos. O tempo total de sono e percentagem do sono em MOR estavam diminuídos; dois pacientes (4% não apresentaram sono MOR. Latência de sono MOR, número de despertares, movimentação em sono, mudança de estágio, índice de distúrbios respiratórios e índice de apnéia obstrutiva estavam aumentados. Entre os dois grupos, houve diferenças estatisticamente significativas na maioria das variáveis polissonográficas. A SpO2 em sono MOR correlacionou-se de forma forte e positiva com a SpO2 em vigília, bem como com a SpO2 em sono não-MOR; e correlacionou-se de forma forte e negativa com a percentagem do tempo total de sono em que a SPO2 foi OBJECTIVE: To evaluate quality of sleep and pulmonary function in clinically stable adolescents with sickle cell anemia (SCA. METHODS: A cross-sectional descriptive study involving 50 patients with SCA submitted to nocturnal polysomnography and spirometry at the Brasília University Hospital. Anthropometric, polysomnographic and pulmonary function data were analyzed. Patients were divided into two groups according to oxygen saturation by pulse oximetry (SpO2 during rapid eye movement (REM sleep: SpO2 93%. Descriptive statistics, Student's t-test, chi-square test and Pearson's correlation coefficient were used. RESULTS: Mean age was 13.9 ± 2

  4. Anemia Falciforme: Um Problema Nosso. Uma abordagem bioética sobre a nova genética Sickle Cell Anaemia: A Brazilian Problem.A bioethical approach to the new genetics

    Directory of Open Access Journals (Sweden)

    Debora Diniz

    2003-12-01

    Full Text Available Este artigo analisa uma das ações educativas adotadas pelo Ministério da Saúde no campo das hemoglobinopatias: o folheto informativo Anemia Falciforme: Um Problema Nosso. O objetivo é discutir as premissas e os valores morais que se encontram associados a iniciativas no campo da educação genética, tendo as políticas públicas sobre anemia falciforme no Brasil como estudo de caso. A análise mostra que o conteúdo do folheto oscila entre políticas de prevenção para doenças e promoção de direitos fundamentais, uma característica da nova genética. Além disso, o excesso de informação biomédica especializada no folheto dificulta sua divulgação em massa. Os resultados encontrados foram discutidos à luz do debate bioético contemporâneo sobre a nova genética.This article analyzes one of the educational initiatives of the Brazilian Ministry of Health on hemoglobinopathies: the leaflet entitled Sickle Cell Anaemia: A Brazilian Problem. The purpose is to discuss the moral values associated with initiatives in genetics education, and the case study focuses on public policies related to sickle cell anaemia in Brazil. The analysis shows that the topics in the leaflets fluctuate between disease prevention policies and human rights protection, a basic characteristic of the new genetics. In addition, the leaflet’s excessive biomedical information hinders understanding by lay readers. The results are analyzed in the light of the contemporary bioethical debate on the new genetics.

  5. Sickle Cell Disease (For Parents)

    Science.gov (United States)

    ... have a shorter-than-normal life span, which leads to anemia (low RBC count). A normal red blood cell ... trapping (or "sequestering") the abnormal RBCs. This can lead to a serious and rapid drop in the red cell count (severe anemia). Early signs include paleness, weakness or fatigue, an ...

  6. Possible Links between Sickle Cell Crisis and Pentavalent Antimony

    Science.gov (United States)

    Garcerant, Daniel; Rubiano, Luisa; Blanco, Victor; Martinez, Javier; Baker, Nancy C.; Craft, Noah

    2012-01-01

    For over 60 years, pentavalent antimony (Sbv) has been the first-line treatment of leishmaniasis. Sickle cell anemia is a disease caused by a defect in red blood cells, which among other things can cause vasooclusive crisis. We report the case of a 6-year-old child with leishmaniasis who during treatment with meglumine antimoniate developed a sickle cell crisis (SCC). No previous reports describing the relationship between antimonial drugs and sickle cell disease were found. Reviews of both the pathophysiology of SCC and the mechanism of action of Sbv revealed that a common pathway (glutathione) may have resulted in the SCC. ChemoText, a novel database created to predict chemical-protein-disease interactions, was used to perform a more expansive and systematic review that was able to support the association between glutathione, Sbv, and SCC. Although suggestive evidence to support the hypothesis, additional research at the bench would be needed to prove Sbv caused the SCC. PMID:22665619

  7. Transcranial Doppler, MRA, and MRI as a screening examination for cerebrovascular disease in patients with sickle cell anemia: an 8-year study

    Energy Technology Data Exchange (ETDEWEB)

    Seibert, J.J.; Glasier, C.M.; Allison, J.W.; James, C.A.; Kinder, D.L.; Cox, K.S.; Lairry, F.; Graves, R.A. [Arkansas Children`s Hospital, Little Rock, AR (United States). Dept. of Radiology; Kirby, R.S.; Flick, E.L. [Center for Ambulatory Research, Univ. of Arkansas for Medical Sciences, Little Rock, AR (United States); Becton, D.L.; Jackson, F.J. [Dept. of Hematology, Univ. of Arkansas for Medical Sciences, Little Rock, AR (United States)

    1998-03-01

    Objective. The authors previously reported five transcranial Doppler ultrasonography (TCD) findings as significant in detecting clinical cerebrovascular disease in a 4-year study in patients with sickle cell disease. This is a follow-up to evaluate the validity of the original findings over another 4-year period during which the study population doubled. A clinical follow-up of the original asymptomatic sickle cell patients with positive TCD, MRA, and MRI was also made. Results. Of the 4 out of original 46 control patients in 1992 who had positive MRA and TCD, 3 have subsequently had clinical stroke. None of the 9 original patients with positive TCD and positive MRI but negative MRA have developed stroke. All five original TCD indicators of disease were still significant (P<0.05) for detecting clinical disease: maximum velocity in ophthalmic artery (OA)>35 cm/s, mean velocity in middle cerebral artery (MCA) >170 cm/s, resistive index (RI) in OA<50, velocity in OA greater than in MCA, and velocity in posterior cerebral (PCA), vertebral, or basilar arteries greater than in MCA. Four additional factors were also significant: turbulence, PCA or ACA without MCA, RI<30, and maximum velocity in MCA>200 cm/s. (orig.)

  8. "I Have Sickle Cell Disease, But Sickle Cell Doesn't Have Me" | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... this page please turn Javascript on. Special Section: Sickle Cell Disease "I Have Sickle Cell Disease, But Sickle Cell Doesn't Have Me" Past ... Heart, Lung, and Blood Institute. On living with sickle cell disease: I've lived with sickle cell my whole ...

  9. Alterações retinianas em jovens portadores de anemia falciforme (hemoglobinopatias em hospital universitário no nordeste do Brasil Retinal impairment in young individuals with sickle cell anemia (hemoglobin SS disease in university hospital in Northeastern of Brazil

    Directory of Open Access Journals (Sweden)

    Allisson Mário dos Santos

    2012-10-01

    Full Text Available OBJETIVOS: Descrever e classificar alterações retinianas encontradas em portadores de anemia falciforme com genótipo SS, bem com comparar métodos diagnósticos (mapeamento de retina e angiofluoresceinografia. MÉTODOS: Neste estudo transversal foram avaliados pacientes portadores de anemia falciforme com idade igual ou superior a sete anos. Esses pacientes foram submetidos a mapeamento de retina e angiofluoresceinografia. Os achados do mapeamento de retina foram agrupados em três classes: sem alterações; alterações não proliferativas e alterações proliferativas. Os resultados à angiofluoresceinografia foram classificados de acordo com os estágios de Goldberg, variando de I a V e expressando gradiente crescente de gravidade. RESULTADOS: Foram avaliados 61olhos de 31pacientes. A retinopatia falciforme foi encontrada em 38/61 (62,3% dos olhos examinados. A média de idade do grupo de portadores de retinopatia foi menor que dos pacientes sem retinopatia (14,4 versus 17,4 anos, p=0,04. Observou-se elevada freqüência de retinopatia não proliferativa, especialmente as tortuosidades vasculares (27,9%, seguidas por anastomoses arteriovenosas na periferia da retina (24,6% e oclusões arteriolares (8,2%. Em um olho foi observado neovascularização. Em 16,4% dos olhos obteve-se resultado normal no mapeamento de retina e alterado à angiofluoresceinografia. CONCLUSÕES: As alterações retinianas do tipo não proliferativa são frequentes e precoces nos portadores de anemia falciforme do tipo SS, sendo a angiofluoresceinografia mais sensível no diagnóstico quando comparada ao mapeamento de retina.PURPOSES: To describe and categorize retinal vascular changes in patients with sickle cell anemia, as well as to compare diagnostic methods (indirect ophthalmoscopy and fluorescein angiography. METHODS: Patients with sickle cell anemia over the age of seven were examined. Complete ophthalmologic examination with indirect ophthalmoscopy and

  10. Treatment Of Sickle Cell Disease

    KAUST Repository

    Essack, Magbubah

    2014-12-04

    The present invention includes embodiments for treatment and/or prevention of sickle cell disease that employ Hydroxyfasudil or Isocoronarin D alone or either in conjunction with each other or an inducer of HbF production. The compounds may act synergistically, and the compounds employed circumvent the side effects seen with Hydroxyurea.

  11. What Are the Signs and Symptoms of Sickle Cell Disease?

    Science.gov (United States)

    ... Twitter. What Are the Signs and Symptoms of Sickle Cell Disease? Early Signs and Symptoms If a person ... to complications of the disease. Major Complications of Sickle Cell Disease Acute Pain ( Sickle Cell or Vaso-occlusive ) ...

  12. Sickle cell disease pain management in adolescents: a literature review.

    Science.gov (United States)

    Wilson, Bridget H; Nelson, Jessica

    2015-04-01

    Sickle cell disease (SCD) pain continues to emerge in adolescents. More than 98,000 individuals are believed to have SCD in the United States. In fact, 1 in 500 Black infants will be affected by SCD. Identifying standards of care for this unique population can improve pain management and treatment. A significant effect of vaso-occlusive crisis is a decrease in the quality of life in children. Therefore, pain management is multidimensional and includes pharmacologic, physical, and psychological strategies. A review of the literature was conducted to identify best practices regarding pain management in adolescents with sickle cell anemia. Key words such as pain, pain management, adolescent sickle cell anemia, and acute sickle cell pain were entered into databases to reveal qualitative and quantitative studies from 2009 to the present. Many of the research articles identified poor SCD pain management. Studies showed that acute SCD pain management is essential and should be evaluated and robustly managed to achieve optimum pain relief for patients. Acute SCD pain usually occurs as a result of vaso-occlusive crisis. Untreated acute SCD pain can result in morbidity and mortality in adolescents. Nursing knowledge is critical to reducing the stigma and improving management of SCD pain. Nurses play a vital role in the introduction of evidence-based practice within the clinical setting. In an effort to educate nurses and other health care professionals about SCD, this article is a literature review of studies concerning SCD and pain management in emergency rooms.

  13. Air pollution and children's health: sickle cell disease

    Directory of Open Access Journals (Sweden)

    Silvia Maria de Macedo Barbosa

    2015-02-01

    Full Text Available The hallmarks of sickle cell disease are anemia and vasculopathy. The aim of this study was to assess the association between air pollution and children's emergency room visits of sickle cell patients. We adopted a case-crossover design. Daily counts of children's and adolescents' sickle cell disease emergency room visits from the pediatric emergency unit in São Paulo, Brazil, were evaluated from September 1999 to December 2004, matching by temperature, humidity and controlling for day of the week. Interquartile range increases of the four-day moving averages of PM10, NO2, SO2, CO, and O3 were associated with increases of 18.9% (95%CI: 11.2-26.5, 19% (95%CI: 8.3-29.6, 14.4% (95%CI: 6.5-22.4, 16,5% (95%CI: 8.9-24.0, and 9.8% (95%CI: 1.1-18.6 in total sickle cell emergency room visits, respectively. When the analyses were stratified by pain, PM10 was found to be 40.3% higher than in sickle cell patients without pain symptoms. Exposure to air pollution can affect the cardiovascular health of children and may promote a significant health burden in a sensitive group.

  14. Amputations in Sickle Cell Disease: Case Series and Literature Review.

    Science.gov (United States)

    Maximo, Claudia; Olalla Saad, Sara T; Thome, Eleonora; Queiroz, Ana Maria Mach; Lobo, Clarisse; Ballas, Samir K

    2016-06-01

    In this study, we describe four new patients with sickle cell disease who had limb amputations. Two of the patients had sickle cell anemia [Hb S (HBB: c.20A > T) (β(S)/β(S))] with refractory leg ulcers that required amputations. The third patient had sickle cell trait with an extensive leg ulcer that was associated with epidermoid carcinoma. The fourth patient had amputations of both forearms and feet due to a misdiagnosis of dactylitis. Review of the literature showed that the indications for amputations in sickle cell disease included three distinct categories: mythical beliefs, therapeutic and malpractice. All therapeutic amputations were for severely painful, large, recalcitrant leg ulcers that failed non-interventional therapies. Amputation resulted in pain relief and better quality of life. Phantom neuropathic pain was not a major issue post-operatively. It was absent, transient or well controlled with antidepressants. Limb function was restored post-amputation with prosthetic artificial limbs, wheelchairs or crutches. Malpractice amputations were due to misdiagnosis or to cryotherapy by exposing the painful limb to ice water resulting in thrombosis, gangrene and amputation. We strongly suggest that leg amputations should be considered in the management of certain patients with severe extensive refractory leg ulcers, and topical cryotherapy should never be used to manage sickle cell pain.

  15. Sickle Cell Trait Causing Splanchnic Venous Thrombosis

    Directory of Open Access Journals (Sweden)

    Priyanka Saxena

    2015-01-01

    Full Text Available Sickle cell trait is considered as a benign condition as these individuals carry only one defective gene and typically have their life span similar to the normal population without any health problems related to sickle cell. Only under extreme conditions, red cells become sickled and can cause clinical complications including hematuria and splenic infarction. Although twofold increased risk of venous thrombosis has been described in African Americans, there is no data available from Indian population. We here report a case of sickle cell trait from India whose index presentation was thrombosis of unusual vascular territory.

  16. Red Blood Cell Immune Complex Binding Capacity in Children with Sickle Cell Trait (HbAS) Living in P. falciparum Malaria Holoendemic Region of Western Kenya

    Science.gov (United States)

    2012-12-08

    Children with Sickle Cell Trait (HbAS) Living in P. falciparum Malaria Holoendemic Region of Western Kenya Walter Otieno1,2, Benson BA Estambale1...anemia. Children with sickle cell trait (HbAS) are less predisposed to getting severe manifestations of malaria. We carried out a study to determine the...2012 to 00-00-2012 4. TITLE AND SUBTITLE Red Blood Cell Immune Complex Binding Capacity in Children with Sickle Cell Trait (HbAS) Living in P

  17. The post-mortem diagnosis of vasocclusive crisis in sickle cell disease

    Directory of Open Access Journals (Sweden)

    Varsha Bhatia

    2014-09-01

    Full Text Available Sickle cell disease (SCD comprises a group of genetic blood disorders that affect the hemoglobin molecular structure, and in some cases, the association with hemoglobin synthesis. In sickle cell anemia, the replacement of glutamic acid by valine at the 6th position on the beta chain from the N terminal results in the synthesis of the abnormal hemoglobin, called hemoglobin S (HbS.

  18. Tratamento da Osteonecrose da Cabeça Femoral com celulas progenitoras autólogas em anemia falciforme Femoral Head Necrosis treatment with autologous stem cells in sickle cell disease

    Directory of Open Access Journals (Sweden)

    Gildásio Cerqueira Daltro

    2008-01-01

    Full Text Available OBJETIVO: Avaliação da segurança e eficácia do uso de células progenitoras autólogas da medula óssea (CMMO no tratamento da Osteonecrose da Cabeça Femoral (OCF de pacientes portadores de anemia falciforme. MÉTODOS: Foram estudados 8 pacientes portadores de anemia falciforme, com OCF nos estágios I e II (classificação de Ficat e Arlet. As CMMO retiradas da crista ilíaca posterior foram concentradas e reinfundidas na área central da osteonecrose. Os principais parâmetros avaliados foram segurança, sintomas clínicos e progressão da doença, através da avaliação clínica (Harris Hip Score e radiológica. RESULTADOS: A maior parte dos pacientes (7 em 8 referiu melhora dos sintomas após o tratamento. Não houve complicações durante o procedimento anestésico e cirúrgico. A medida do escore (Harris Hip Score no pré-operatório foi 78,5 +/- 6,2 pontos, com aumento significativo destes valores no pós-operatório (98,3 +/- 2,5 pontos (pPURPOSE: To assess the efficacy and safety of autologous bone-marrow mononuclear cells (BMMC implantation in necrotic lesions of the femoral head in patients with sickle cell disease. METHODS: We studied eight patients with stage-I or -II femoral head osteonecrosis according to the system by Ficat and Arlet. BMMCs were harvested and re-infused into the necrotic zone. The primary endpoints studied were safety, clinical symptoms and disease progression, these being assessed according to the Harris hip score (HHS and to X-ray studies. RESULTS: After eight months, seven of the eight patients reported improvement from symptoms. There were no complications during anesthetic and surgery procedures. There was a significant postoperative increase in the HHS (98.3 +/- 2.5 points compared to preoperative HHS (78.5 +/- 6.2 points (p< 0.001. X-ray evaluation and cell parameters were found to be favorable. CONCLUSION: The autologous bone-marrow mononuclear cells implantation seems to be a safe and effective

  19. Sickle Cell Trait and the Athlete

    Institute of Scientific and Technical Information of China (English)

    E.Randy Eichner

    2007-01-01

    @@ KEY POINTS ·Sickle cell trait is an inherited condition of the oxygencarrying protein,hemoglobin,in red blood cells.This genetic trait is generally benign,but during maximal exercise,the oxygen levels in muscles can decrease sufficiently to cause some of the red cells to change from the normal disk shape to a crescent or sickle shape.

  20. Imaging of sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Crowley, J.J. [Department of Pediatric Imaging, Children`s Hospital of Michigan, Detroit (United States); Sarnaik, S. [Sickle Cell Center, Children`s Hospital of Michigan, Detroit (United States)

    1999-09-01

    Sickle cell disease is an important health care issue in the United States and in certain areas in Africa, the Middle East and India. Although a great deal of progress has been made in understanding the disease at the molecular and pathophysiologic level, specific treatment which is safe and accessible for most patients is still elusive. Going into the next millennium, the management of this disease is still largely dependent on early diagnosis and the treatment of complications with supportive care. Thus, diagnosis and evaluation of the complications of the disease are crucial in directing clinical care at the bedside. Modern imaging modalities have greatly improved, and their application in the patient with the sickling disorders has enhanced the decision - making process. The purpose of this article is to review the clinical aspects of common complications of the disease and to discuss imaging approaches which are useful in their evaluation. (orig.) With 15 figs., 102 refs.

  1. Morbidity associated with sickle cell trait carriers

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    Moussa Seck

    2016-12-01

    Conclusions: This work has allowed us to find that the symptoms presented by sickle cell trait patients are dominated by painful events. This morbidity associated with porting sickle cell trait was not secondary to inflammatory or metabolic disorders or physical activity.

  2. Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service

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    Zeni Drubi Nogueira

    2015-06-01

    Full Text Available OBJECTIVE: To study the breastfeeding history (BF and the anthropometric status of children with Sickle Cell Disease (SCD. METHODS: A cross-sectional study of 357 children with SCD aged between 2 and 6 years, regularly followed at a Newborn Screening Reference Service (NSRS between November 2007 and January 2009. The outcome was anthropometric status and the exposures were: BF pattern, type of hemoglobinopathy and child's age and gender. RESULTS: The mean (SD age was 3.7 (1.1 years, 52.9% were boys and 53.5% had SCA (hemoglobin SS. The prevalence of exclusive breastfeeding (EBR up to six months of age was 31.5%, the median EBR times (p25-p75 was 90.0 (24.0-180.0 days and the median weaning ages (p25-p75 was 360.0 (90.0-720.0 days respectively. Normal W/H children experienced EBR for a mean duration almost four times longer than malnourished children (p=0.01, and were weaned later (p<0.05. Height deficit was found in 5.0% of children, while all the children with severe short stature had had SCA (hemoglobin SS and were older than 4 years of age. CONCLUSIONS: EBF time and weaning age were greater than that found in the literature, which is a possible effect of the multidisciplinary follow-up. Duration of EBF and later weaning were associated with improved anthropometric indicators.

  3. 21 CFR 864.7825 - Sickle cell test.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Sickle cell test. 864.7825 Section 864.7825 Food... DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Kits and Packages § 864.7825 Sickle cell test. (a) Identification. A sickle cell test is a device used to determine the sickle cell hemoglobin content of...

  4. Best practices for transfusion for patients with sickle cell disease

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    Ted Wun

    2010-01-01

    Full Text Available The beta-globin gene mutation in sickle cell anemia results in anemia and repeated bouts of vascular occlusion. The cumulative effect of these vasocclusive events is progressive damage to many organs including the kidneys, lungs, and brain. The transfusion of red blood cells (RBC can ameliorate many of these complications, but can be associated with both acute and chronic complications, including iron overload. The objective of the Best Practices in Transfusion Medicine for Patients with Sickle Cell Disease (SCD Conference was to review the available published evidence and clinical experience surrounding the use of RBC transfusions for sickle cell disease by a panel of experts. The expert panel developed explicit clinical guidelines for the use of RBC in SCD patients. The panel also made recommendations for further research.  A set of guidelines were produced for dissemination to pertinent stakeholders. If implemented, these clinical pathways have the potential to optimize the use of red blood cell transfusions in SCD.

  5. Associação entre hipertrofia adenotonsilar, tonsilites e crises álgicas na anemia falciforme Association between adenotonsillar hypertrophy, tonsillitis and painful crises in sickle cell disease

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    Cristina Salles

    2009-06-01

    lgica no mesmo período; e não houve diferença quanto ao valor da hemoglobina anual média entre os que apresentaram e os que não apresentaram hipertrofia adenotonsilar obstrutiva.OBJECTIVES: To determine the prevalence of obstructive adenotonsillar hypertrophy in children and adolescents with sickle cell anemia; to investigate possible association between the presence of more than five episodes of tonsillitis in the last 12 months and episodes of painful crises in the same period; and to compare the mean annual hemoglobin level in children and adolescents with and without obstructive adenotonsillar hypertrophy. METHODS: Prospective, observational, cross-sectional study involving 85 children and adolescents with sickle cell anemia. All patients answered a questionnaire and underwent a standard otolaryngology examination, including endoscopic endonasal approach. The diagnosis of obstructive adenotonsillar hypertrophy was made according to the Brodsky scale. RESULTS: The prevalence of obstructive adenotonsillar hypertrophy was 55.3%. Obstructive adenotonsillar hypertrophy was associated with history of difficulty in eating (76.7 vs. 23.5%, p = 0.003, presence of more than five episodes of tonsillitis in the last 12 months (70.6 vs. 29.4%, p = 0.021, loud snoring (73.0 vs. 27.0%, p = 0.004, and sleep apnea (71.8 vs. 28.2%, p = 0.005. Patients with obstructive adenotonsillar hypertrophy had more episodes of recurrent upper airway tract infection (62.5 vs. 37.5; p = 0.010. The presence of more than five episodes of tonsillitis in the last 12 months was associated with episodes of painful crises (median = 12 vs. 2, p = 0.017. There was no significant difference between mean annual hemoglobin levels of patients with obstructive adenotonsilar hypertrophy vs. nonobstructive adenotonsillar hypertrophy: 7.6 vs. 8.2 g/dL, p = 0.199. CONCLUSION: The prevalence of obstructive adenotonsillar hypertrophy was 55.3% in children and adolescents with sickle cell anemia; the presence of

  6. Association of alpha-thalassemia, TNF-alpha (-308G>A) and VCAM-1 (c.1238G>C) gene polymorphisms with cerebrovascular disease in a newborn cohort of 411 children with sickle cell anemia.

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    Belisário, André Rolim; Nogueira, Frederico Lisboa; Rodrigues, Rahyssa Sales; Toledo, Nayara Evelin; Cattabriga, Ana Luiza Moreira; Velloso-Rodrigues, Cibele; Duarte, Filipe Otávio Chaves; Silva, Célia Maria; Viana, Marcos Borato

    2015-01-01

    Cerebrovascular disease (CVD) is a severe complication associated with sickle cell anemia. Abnormal transcranial Doppler (TCD) identifies some children at high risk, but other markers would be helpful. This cohort study was aimed at evaluating the effects of genetic biomarkers on the risk of developing CVD in children from Minas Gerais, Brazil. Clinical and hematological data were retrieved from children's records. Outcomes studied were overt ischemic stroke and CVD (overt ischemic stroke, transient ischemic attack, abnormal TCD, or abnormal cerebral angiography). Out of 411 children, 386 (93.9%) had SS genotype, 23 (5.6%) had Sβ(0)-thal and two had severe Sβ(+)-thal (0.5%). Frequency of CVD was lower in Sβ-thal group (p=0.05). No effect of VCAM-1 polymorphism on stroke or CVD risks was detected. Cumulative incidence of stroke was significantly higher for children with TNF-α A allele (p=0.02) and lower for children with HBA deletion (p=0.02). However, no association between CVD and TNF-α -308G>A was found. CVD cumulative incidence was significantly lower for children with HBA deletion (p=0.004). This study found no association between VCAM1 c.1238G>C and stroke. An association between stroke and TNF-α -308A allele has been suggested. Our results have confirmed the protective role of HBA deletion against stroke and CVD.

  7. Osteoarticular involvement in sickle cell disease

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    Geraldo Bezerra da Silva Junior

    2012-01-01

    Full Text Available The osteoarticular involvement in sickle cell disease has been poorly studied and it is mainly characterized by osteonecrosis, osteomyelitis and arthritis. The most frequent complications and those that require hospital care in sickle cell disease patients are painful vaso-occlusive crises and osteomyelitis. The deoxygenation and polymerization of hemoglobin S, which results in sickling and vascular occlusion, occur more often in tissues with low blood flow, such as in the bones. Bone microcirculation is a common place for erythrocyte sickling, which leads to thrombosis, infarct and necrosis. The pathogenesis of microvascular occlusion, the key event in painful crises, is complex and involves activation of leukocytes, platelets and endothelial cells, as well as hemoglobin S-containing red blood cells. Osteonecrosis is a frequent complication in sickle cell disease, with a painful and debilitating pattern. It is generally insidious and progressive, affecting mainly the hips (femur head and shoulders (humeral head. Dactylitis, also known as hand-foot syndrome, is an acute vaso-occlusive complication characterized by pain and edema in both hands and feet, frequently with increased local temperature and erythema. Osteomyelitis is the most common form of joint infection in sickle cell disease. The occurrence of connective tissue diseases, including rheumatoid arthritis and systemic lupus erythematosus, has rarely been reported in patients with sickle cell disease. The treatment of these complications is mainly symptomatic, and more detailed studies are required to understand the pathophysiological mechanisms involved in the complications and propose more adequate and specific therapies.

  8. Indigenous Traditional Medical Practitioners’ Lack of Formal Medical Education Impacts their Choices of Information Resources for the Treatment of Sickle Cell Anemia. A Review of: Olatokun, W. M., & Ajagbe, E. (2010. Analyzing traditional medical practitioners’ information-seeking behavior using Taylor’s information-use environment model. Journal of Librarianship and Information Science, 42, 122-135.

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    Maria C. Melssen

    2011-06-01

    Full Text Available Objective – To determine the information seeking behaviours of traditional medical practitioners who treat sickle cell anemia patients.Design – Qualitative, interviewer-administered, structured questionnaire.Setting – City and surrounding rural area of Ibadan, Nigeria.Subjects – The researchers selected for this study 160 indigenous traditional medical practitioners who specialize in the treatment of sickle cell anemia. The majority of the subjects were male, with 96 male and 64 female. The practitioners were selected from four traditional medical practitioner associations in Ibadan, Nigeria. The researchers met with the leaders of the four organizations and identified which of the 420 members specialize in the treatment of sickle cell anemia.Methods – The subjects were asked survey questions orally during face-to-face interviews. The decision to conduct interviews and ask the survey questions orally (rather than having the subjects complete the survey questions on their own was based on the perceived low literacy level of the traditional medical practitioners. Survey questions were written using the analytical framework of Taylor’s information use environment model. According to the authors, the premise of Taylor’s information use environment model is that individuals can be grouped according to their “professional and/or social characteristics” (p. 124. The group is then characterized by the members’ approach to problem solving: the type of problems they encounter, the setting they find themselves in during the problem, and how the group as a whole determines what course of action needs to be taken in order to solve the problem. The problem solving strategy of the group impacts its need for information and how that information is located and used.The questions asked by the researchers fell into one of five research areas:• the environment of the group• the diagnosis and treatment methods of traditional medical

  9. Asthma in Sickle Cell Disease

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    Manisha Newaskar

    2011-01-01

    Full Text Available In recent years, evidence has increased that asthma predisposes to complications of sickle cell disease (SCD, such as pain crises, acute chest syndrome, pulmonary hypertension, and stroke, and is associated with increased mortality. An obstructive pattern of pulmonary function, along with a higher-than-expected prevalence of airway hyper-responsiveness (AHR when compared to the general population, has led some researchers to suspect that underlying hemolysis may contribute to the development of a pulmonary disease similar to asthma in patients with SCD. While the pathophysiologic mechanism in atopic asthma involves up-regulation of Th2 cytokines, mast cell– and eosinophil-driven inflammation, plus increased activity of inducible nitric oxide synthase (iNOS and arginase in airway epithelium resulting in obstructive changes and AHR, the exact mechanisms of AHR, obstructive and restrictive lung disease in SCD is unclear. It is known that SCD is associated with a proinflammatory state and an enhanced inflammatory response is seen during vaso-occlusive events (VOE. Hemolysis-driven acute-on-chronic inflammation and dysregulated arginines–nitric oxide metabolism are potential mechanisms by which pulmonary dysfunction could occur in patients with SCD. In patients with a genetic predisposition of atopic asthma, these changes are probably more severe and result in increased susceptibility to sickle cell complications. Early recognition and aggressive management of asthma based on established National Institutes of Health asthma guidelines is recommended in order to minimize morbidity and mortality.

  10. Clinical analysis of 34 cases of children with sickle cell anemia pain crisis in Guyana%圭亚那儿童镰状细胞贫血疼痛危象34例临床分析

    Institute of Scientific and Technical Information of China (English)

    顾健辉; MARK Antoney Steve

    2013-01-01

    Objective: To explore and summarize the clinical manifestations of the sickle cell crisis in children and its treatment method. Methods: A retrospective study was performed on 34 children with sickle cell crisis who were re-ferred to the Linden Hospital of Guyana between June 2010 and June 2012. 34 cases were given anti-infective and oxygen treatment after admission. Cloxacillin or ceftriaxone was selected as antibiotic. According to VAS pain score, those with 1~3 points were not given painkillers, those with 4~7 points were given oral paracetamol or ibuprofen, and those with 8~10 were given morphine injection. Each case was given 0.45% of sodium chloride for 60-80mL/kg a day. 3 cases with falciparum malaria were given Coartem.5 cases with vivax malaria were given chloroquine and quinine; the cases with severe anemia were given red blood cell suspension of 15mL/kg. Results: 33 cases recovered, with an average hospital stay of 9 days. 1 case died after 3 days of transfer to Guyana National Hospital. Conclusion: With the Chinese medical team working abroad, it is of practical significance for the Chinese doctors to improve the understanding of the sickle cell crisis.%目的:探讨儿童镰状细胞贫血疼痛危象的临床表现和诊治方法。方法:34例入院后予以抗感染和吸氧对症处理。抗生素选用邻氯青霉素、头孢曲松钠。根据VAS疼痛评分法,1~3分者不使用止痛药,4~7分者给予扑热息痛或布洛芬口服,8~10分者给予吗啡注射。每天给予60~80mL/kg体重的0.45%氯化钠液体。合并恶性疟疾3例给予复方蒿甲醚治疗,间日疟5例给予氯喹、喹宁治疗;重度贫血的患儿给予输注红细胞悬液15mL/kg体重。结果:33例病情稳定,平均住院9天,均好转后出院,1例转院至圭亚那乔治敦国家医院后抢救无效死亡。结论:随着我国对外医疗援助工作的开展,提高援外医师对本病的认识具有现实意义。

  11. Hematological differences between patients with different subtypes of sickle cell disease on hydroxyurea treatment

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    Fabia Neves

    2012-01-01

    Full Text Available OBJECTIVE: Sickle cell anemia and the interaction S/Beta thalassemia differ in hematological values due to microcytosis and hypochromia caused by the thalassemic mutation. The clinical benefit of long-term hydroxyurea treatment is undeniable in sickle cell disease with monitoring of the biological action of the drug being by the complete blood count. The objective of this work is to compare changes in some of the erythrocytic indexes between S/Beta thalassemia and sickle cell anemia patients on long-term hydroxyurea treatment. METHODS: The values of erythrocyte indexes (mean corpuscular volume and mean corpuscular hemoglobin were compared in a retrospective study of two groups of patients (Sickle cell anemia and S/Beta thalassemia on hydroxyurea treatment over a mean of six years. RESULTS: The quantitative values of the two parameters differed between the groups. Increases in mean corpuscular volume and reductions in mean corpuscular hemoglobin delay longer in S/Beta thalassemia patients (p-value = 0.018. CONCLUSION: Hematological changes are some of the beneficial effects of hydroxyurea in sickle cell disease as cellular hydration increases and the hemoglobin S concentration is reduced. The complete blood count is the best test to monitor changes, but the interpretation of the results in S/Beta thalassemia should be different.

  12. Sickle cell disease in the Kurdish population of northern Iraq.

    Science.gov (United States)

    Al-Allawi, Nasir A S; Jalal, Sana D; Nerwey, Farida F; Al-Sayan, Galawezh O O; Al-Zebari, Sahima S M; Alshingaly, Awny A; Markous, Raji D; Jubrael, Jaladet M S; Hamamy, Hanan

    2012-01-01

    Epidemiological studies have revealed that sickle cell disease patients are clustered in two geographical areas in Iraq, one among the Arabs in the extreme south, another among the Kurdish population in the extreme north, where they constitute major health problems. However, no studies have focused on the genotypes responsible for sickle cell disease or the β-globin gene haplotypes associated with it. For the latter purpose, a total of 103 unrelated Kurdish sickle cell disease patients were evaluated by restriction fragment length polymorphism (RFLP) for the sickle cell mutation, followed by multiplex polymerase chain reaction (PCR) and reverse hybridization for β- and α-thalassemia (β- and α-thal) mutations, whenever indicated. Results showed that the most common genotype was sickle cell anemia (68.0%) followed by Hb S/β(0)-thal and Hb S/β(+)-thal at frequencies of 24.2 and 7.8%, respectively. Eight β-thal mutations were associated with the latter two genotypes including: IVS-II-1 (G>A), IVS-I-110 (G>A), codon 8 (-AA), codon 44 (-C), codon 22 (-7 bp), IVS-I-1 (G>A), codon 30 (G>C) and IVS-I-6 (T>C). In Hb SS patients, the -α(3.7) deletion was documented in 10.0% and was the only α-thal mutation detected. Furthermore, 5' β-globin gene cluster haplotyping of 128 β(S) chromosomes revealed that the most common haplotype seen in 69.5% was the Benin haplotype, followed by the Arab-Indian haplotype in 12.5%. These latter findings closely resemble reports from neighboring Turkey, Syria, Jordan, Lebanon and Mediterranean countries, suggesting a possible common origin, but are in contrast to findings from the Eastern Arabian Peninsula and Iran.

  13. Cerebrovascular accident in sickle cell disease.

    Science.gov (United States)

    Alam, Maqbool; Lodhi, Munir A; Khan, Durab

    2003-01-01

    Sickle cell disease (SCD) is a common inherited hemoglobin disorder characterized by the presence of sickle shaped erythrocytes in the blood. It can cause stroke in around 10% of children. Repeated blood transfusion are often used in an attempt to dilute blood thus reducing the risk of vaso-occlusion and stroke. We report a case of an 11 years old girl, known patient of sickle cell disease, who did not follow regular blood transfusion protocol and as a result presented with recurrent stroke.

  14. How to Reach Rapid Diagnosis in Sickle Cell Disease?

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    Khodamorad Zandian

    2010-03-01

    Full Text Available Objective: Sickle cell disease (SCD is a common hereditary disease in Iran. In developed countries, newborn screening programs have been established to ensure early diagnosis, but in most developing countries, screening is not performed and the diagnosis is often delayed. The aim of the present work was to investigate the clinical presentation of SCD in Iran and comparison of its hematologic indices with normal children.Methods: The study included 44 pediatric patients (26 boys and 18 girls with sickle cell anemia (SS, 27 sickle /β°-thalassemia (Sβ°, and 21 sickle /β+-thalassemia (Sβ+. Fifty seven healthy individuals matched with the patients were randomly selected as controls. Findings: Mean age at diagnosis in SS group was 4.3 years. At the time of diagnosis all patients were anemic, 89% complained of painful crises. Hemoglobin(Hb concentration, red blood cell (RBC count and Hb×RBC product in SS group was significantly lower than in control group (P<0.001, mean corpuscular volume (MCV and mean corpuscular hemoglobin (MCH showed no significant differences. Hb×RBC product below 45 and MCH/RBC above 7 have the best sensitivity and specificity for differenting SS group and the control normal group (91 and 98% for Hb×RBC and 89 and 100% for MCH/RBC respectively. Mean age at diagnosis in Sβ+ group was higher than in SS and Sβ° groups (7.45 year vs 4.26 and 4.25 year (P<0.001. In addition, Sβ° and Sβ+ groups had significantly lower MCV, MCH, and Hb×RBC indices compared with control group.Conclusion: We suggest that in an anemic patient with history of pain crises, normochrome normocytic anemia, Hb×RBC <45 and MCH/RBC ≥7, SCD should be considered and the patient evaluated accordingly to confirm the diagnosis.

  15. Peripheral red blood cell split chimerism as a consequence of intramedullary selective apoptosis of recipient red blood cells in a case of sickle cell disease.

    Science.gov (United States)

    Marziali, Marco; Isgrò, Antonella; Sodani, Pietro; Gaziev, Javid; Fraboni, Daniela; Paciaroni, Katia; Gallucci, Cristiano; Alfieri, Cecilia; Roveda, Andrea; De Angelis, Gioia; Cardarelli, Luisa; Ribersani, Michela; Andreani, Marco; Lucarelli, Guido

    2014-01-01

    Allogeneic cellular gene therapy through hematopoietic stem cell transplantation is the only radical cure for congenital hemoglobinopathies like thalassemia and sickle cell anemia. Persistent mixed hematopoietic chimerism (PMC) has been described in thalassemia and sickle cell anemia. Here, we describe the clinical course of a 6-year-old girl who had received bone marrow transplant for sickle cell anemia. After the transplant, the patient showed 36% donor hematopoietic stem cells in the bone marrow, whereas in the peripheral blood there was evidence of 80% circulating donor red blood cells (RBC). The analysis of apoptosis at the Bone Marrow level suggests that Fas might contribute to the cell death of host erythroid precursors. The increase in NK cells and the regulatory T cell population observed in this patient suggests that these cells might contribute to the condition of mixed chimerism.

  16. Single Nucleotide Polymorphisms at +191 and +292 of Galectin-3 Gene (LGALS3) Related to Lower GAL-3 Serum Levels Are Associated with Frequent Respiratory Tract Infection and Vaso-Occlusive Crisis in Children with Sickle Cell Anemia

    Science.gov (United States)

    de Mendonça Belmont, Taciana Furtado; do Ó, Kleyton Palmeira; Soares da Silva, Andreia; de Melo Vilar, Kamila; Silva Medeiros, Fernanda; Silva Vasconcelos, Luydson Richardson; Mendonça dos Anjos, Ana Claudia; Domingues Hatzlhofer, Betânia Lucena; Pitta, Maíra Galdino da Rocha; Bezerra, Marcos André Cavalcanti; Araújo, Aderson da Silva; de Melo Rego, Moacyr Jesus Barreto; Moura, Patrícia; Cavalcanti, Maria do Socorro Mendonça

    2016-01-01

    Introduction Patients with sickle cell anemia (SCA) may present chronic hemolytic anemia, vaso-occlusion and respiratory tract infection (RTI) episodes. Galectin-3 (GAL-3) is a multifunctional protein involved in inflammation, apoptosis, adhesion and resistance to reactive oxygen species. Studies point to a dual role for GAL-3 as both a circulation damage-associated molecular pattern and a cell membrane associated pattern recognition receptor. Objective To investigate associations between the SNPs of GAL-3 gene (LGALS3) and serum levels with RTI and vaso-occlusive crisis (VOC) in children with SCA. Materials and Methods SNPs +191 and +292 in LGALS3 were studied using the TaqMan real-time PCR system; GAL-3 serum levels were measured by ELISA. The study included 79 children with SCA ranging from 2 to 12 years old. Results GAL-3 serum levels were associated with LGALS3 +191 and +292 genotypes (p <0.0001; p = 0.0169, respectively). LGALS3 +191, AA genotype was associated with low and CC with higher levels of GAL-3. For LGALS3 +292, the CC genotype was associated with lower GAL-3 and AA with higher levels. Patients with Frequency of RTI (FRTI) ≥1 presented higher frequency of +191AA (p = 0.0263) and +292AC/CC genotypes (p = 0.0320). SNP +292 was associated with Frequency of VOC (FVOC) (p = 0.0347), whereas no association was shown with SNP +191 and FVOC. However, CA/AC and AA/CC genotypes with lower GAL-3 levels showed a higher frequency in patients with FRTI ≥1 (p = 0.0170; p = 0.0138, respectively). Also, patients with FVOC ≥1 presented association with CA/AC (p = 0.0228). LGALS3 +191 and +292 combined genotypes related to low (p = 0.0263) and intermediate expression (p = 0.0245) were associated with FRTI ≥1. Lower GAL-3 serum levels were associated with FRTI ≥1 (p = 0.0426) and FVOC ≥1 (p = 0.0012). Conclusion Variation of GAL-3 serum levels related to SNPs at +191 and +292 may constitute a susceptibility factor for RTI and VOC frequency. PMID:27603703

  17. MANAGEMENT OF SICKLE CELL DISEASE

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    Rajesh

    2016-02-01

    Full Text Available Sickle cell disease (SCD is a genetically transmitted multisystem disease1 which includes a group of disorders that differs in severity sign and symptoms, The disease is not uniformly seen everywhere but it has some topographical distribution. In India, it is frequently seen in Central India, in and around the vicinity of Chhattisgarh in some religions in caste like kurmis, satnami, mahar, other backward caste and some tribes, it has great pathological significance considering the high morbidity and mortality resulting from the disease process. We have studied the cases of SCD from 2001 to 2015 series of such patients, since there is no cure of this disease, in regards to prevention of this genetic autosomal recessive disorder by marriage counseling, the incidence can be significantly reduced by avoiding consanguineous marriages in the susceptible community.

  18. There Is No Shame in Pain: Coping and Functional Ability in Adolescents with Sickle Cell Disease.

    Science.gov (United States)

    Robinson, M. Renee

    1999-01-01

    Discusses coping and personal adjustment to chronic pain for adolescents with sickle cell anemia and presents a model of illness behavior for these adolescents. Offers a framework of disease severity and disease impact, and suggests using functional ability as an index of coping and personal adjustment. Contains 59 references. (SLD)

  19. Acompanhamento nutricional de criança portadora de anemia falciforme na Rede de Atenção Básica à Saúde Nutritional follow-up of children with sickle cell anemia treated in a Primary Care Unit

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    Karen Cordovil M. de Souza

    2008-12-01

    Full Text Available OBJETIVO: Relatar estudo de caso de atendimento nutricional a criança com diagnóstico de anemia falciforme. DESCRIÇÃO DO CASO: Realizaram-se quatro atendimentos nutricionais pela equipe do Internato de Nutrição da Universidade do Estado do Rio de Janeiro (Uerj no período de julho a setembro de 2005 a criança de 1 a 4 meses, feminina, negra, com anemia falciforme. Na avaliação do estado nutricional e do ganho de peso, empregaram-se os seguintes indicadores antropométricos: comprimento/idade, peso/idade e peso/comprimento, e um indicador de impacto nutricional. A análise dietética compreendeu a avaliação da ingestão energética e de macronutrientes observada na primeira consulta após 30 dias de intervenção. COMENTÁRIOS: Ao longo do período analisado, a baixa estatura para a idade (z=−1,32 evoluiu para adequação (z=0,87, enquanto o peso em relação ao comprimento manteve-se inadequado (z=−2,53. O ganho de peso foi 50% inferior ao incremento esperado. O consumo energético inicialmente inadequado (60% das recomendações alcançou, após 30 dias, 117%. A Estratégia em Saúde da Família vem sendo recomendada como importante ferramenta para monitorar as condições nutricionais, bem como para melhorar a atenção prestada. Entretanto, considerando o modelo de atenção primária local, observa-se haver necessidade de capacitação, especialmente no que tange às peculiaridades inerentes à condição de nutrição e de saúde dos portadores de anemia falciforme.OBJECTIVE: To report the nutritional follow-up of a black baby girl, one year and four months old, with homozygous sickle cell anemia. CASE DESCRIPTION: From July-September 2005, the infant attended four nutritional appointments at the Nutrition Internship Program from the State University of Rio de Janeiro, Rio de Janeiro, Brazil. The nutritional status was evaluated by the anthropometric indexes: length/age, weight/age and weight/length, and by one indicator of

  20. Sickle Cell Screening: Medical, Legal, Ethical, Psychological and Social Problems; A Sickle Cell Crisis.

    Science.gov (United States)

    Bowman, James E.

    In recent years, sickle cell screening programs have been initiated by community groups, health centers, hospitals, medical schools, health departments, school systems, city and State governments, various branches of the Federal Government, fraternal and social clubs, and other organizations. Problems have resulted from mass sickle cell screening,…

  1. Multiscale modeling of sickle anemia blood blow by Dissipative Partice Dynamics

    Science.gov (United States)

    Lei, Huan; Caswell, Bruce; Karniadakis, George

    2011-11-01

    A multi-scale model for sickle red blood cell is developed based on Dissipative Particle Dynamics (DPD). Different cell morphologies (sickle, granular, elongated shapes) typically observed in in vitro and in vivo are constructed and the deviations from the biconcave shape is quantified by the Asphericity and Elliptical shape factors. The rheology of sickle blood is studied in both shear and pipe flow systems. The flow resistance obtained from both systems exhibits a larger value than the healthy blood flow due to the abnormal cell properties. However, the vaso-occulusion phenomenon, reported in a recent microfluid experiment, is not observed in the pipe flow system unless the adhesive interactions between sickle blood cells and endothelium properly introduced into the model.

  2. Mast cell activation contributes to sickle cell pathobiology and pain in mice.

    Science.gov (United States)

    Vincent, Lucile; Vang, Derek; Nguyen, Julia; Gupta, Mihir; Luk, Kathryn; Ericson, Marna E; Simone, Donald A; Gupta, Kalpna

    2013-09-12

    Sickle cell anemia (SCA) is an inherited disorder associated with severe lifelong pain and significant morbidity. The mechanisms of pain in SCA remain poorly understood. We show that mast cell activation/degranulation contributes to sickle pain pathophysiology by promoting neurogenic inflammation and nociceptor activation via the release of substance P in the skin and dorsal root ganglion. Mast cell inhibition with imatinib ameliorated cytokine release from skin biopsies and led to a correlative decrease in granulocyte-macrophage colony-stimulating factor and white blood cells in transgenic sickle mice. Targeting mast cells by genetic mutation or pharmacologic inhibition with imatinib ameliorates tonic hyperalgesia and prevents hypoxia/reoxygenation-induced hyperalgesia in sickle mice. Pretreatment with the mast cell stabilizer cromolyn sodium improved analgesia following low doses of morphine that were otherwise ineffective. Mast cell activation therefore underlies sickle pathophysiology leading to inflammation, vascular dysfunction, pain, and requirement for high doses of morphine. Pharmacological targeting of mast cells with imatinib may be a suitable approach to address pain and perhaps treat SCA.

  3. HYDROXYCARBAMINE: FROM AN OLD DRUG USED IN MALIGNANT HEMOPATHIES TO A CURRENT STANDARD IN SICKLE CELL DISEASE

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    Giovanna Cannas

    2017-02-01

    Full Text Available While hydroxycarbamine (hydroxyurea, HU has less and less indications in malignant hemopathies, it represents the only widely used drug which modifies sickle cell disease pathogenesis. Clinical experience with HU for patients with sickle cell disease has been accumulated over the past 25 years in Western countries. The review of the literature provides increasing support of safety and efficacy in both children and adults for reducing acute vaso-occlusive events including pain episodes and acute chest syndrome. HU has become the standard-of-care for sickle cell anemia, but remains underused. Barriers to its use should be identified and overcome.

  4. Hydroxycarbamine: from an Old Drug Used in Malignant Hemopathies to a Current Standard in Sickle Cell Disease

    Science.gov (United States)

    Cannas, Giovanna; Poutrel, Solène; Thomas, Xavier

    2017-01-01

    While hydroxycarbamide (hydroxyurea, HU) has less and fewer indications in malignant hemopathies, it represents the only widely used drug which modifies sickle cell disease pathogenesis. Clinical experience with HU for patients with sickle cell disease has been accumulated over the past 25 years in Western countries. The review of the literature provides increasing support for safety and efficacy in both children and adults for reducing acute vaso-occlusive events including pain episodes and acute chest syndrome. No increased incidence of leukemia and teratogenicity was demonstrated. HU has become the standard-of-care for sickle cell anemia but remains underused. Barriers to its use should be identified and overcome. PMID:28293403

  5. 78 FR 44575 - Sickle Cell Disease Treatment Demonstration Program

    Science.gov (United States)

    2013-07-24

    ... HUMAN SERVICES Health Resources and Services Administration Sickle Cell Disease Treatment Demonstration... Services (HHS). ACTION: Request for Class Deviation for Non-Competitive Extension: Sickle Cell Disease... nine programs that are funded through competitive grant awards under the Sickle Cell Disease...

  6. Deterministic Aperiodic Sickle Cell Blood Flows

    Science.gov (United States)

    Atsaves, Louis; Harris, Wesley

    2013-11-01

    In this paper sickle cell blood flow in the capillaries is modeled as a hydrodynamical system. The hydrodynamical system consists of the axisymmetric unsteady, incompressible Navier-Stokes equations and a set of constitutive equations for oxygen transport. Blood cell deformation is not considered in this paper. The hydrodynamical system is reduced to a system of non-linear partial differential equations that are then transformed into a system of three autonomous non-linear ordinary differential equations and a set of algebraic equations. We examine the hydrodynamical system to discern stable/unstable, periodic/nonperiodic, reversible/irreversible properties of the system. The properties of the solutions are driven in large part by the coefficients of the governing system of equations. These coefficients depend on the physiological properties of the sickle cell blood. The chaotic nature of the onset of crisis in sickle cell patients is identified. Research Assistant.

  7. Who Is at Risk for Anemia?

    Science.gov (United States)

    ... history of inherited anemia, such as sickle cell anemia or thalassemia Rate This Content: NEXT >> Updated: May 18, 2012 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG ...

  8. Plasma eicosanoid profiles determined by high-performance liquid chromatography coupled with tandem mass spectrometry in stimulated peripheral blood from healthy individuals and sickle cell anemia patients in treatment.

    Science.gov (United States)

    Galvão, Alyne Fávero; Petta, Tânia; Flamand, Nicolas; Bollela, Valdes Roberto; Silva, Célio Lopes; Jarduli, Luciana Ribeiro; Malmegrim, Kelen Cristina Ribeiro; Simões, Belinda Pinto; de Moraes, Luiz Alberto Beraldo; Faccioli, Lúcia Helena

    2016-05-01

    Eicosanoids play an important role in homeostasis and in the pathogenesis of various human diseases. Pharmacological agents such as Ca(2+) ionophores and Ca(2+)-ATPase inhibitors, as well as natural agonists such as formylmethionine-leucyl-phenylalanine (fMLP), can stimulate eicosanoid biosynthesis. The aims of this work were to develop a method to determine the eicosanoid profile of human plasma samples after whole blood stimulation and to assess differences between healthy and sick individuals. For this purpose, a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method was partially validated for the quantification of 22 eicosanoids using human plasma from healthy volunteers. In addition, we optimized a method for the stimulation of eicosanoids in human whole blood. LC-MS/MS analyses were performed by negative electrospray ionization and multiple reaction monitoring. An assumption of linearity resulted in a regression coefficient ≥0.98 for all eicosanoids tested. The mean intra-assay and inter-assay accuracy and precision values had relative standard deviations and relative errors of ≤15%, except for the lower limit of quantification, where these values were ≤20%. For whole blood stimulation, four stimuli (fMLP, ionomycin, A23187, and thapsigargin) were tested. Results of the statistical analysis showed that A23187 and thapsigargin were potent stimuli for the production or liberation of eicosanoids. We next compared the eicosanoid profiles of stimulated whole blood samples of healthy volunteers to those of patients with sickle cell anemia (SCA) under treatment with hydroxyurea (HU) or after chronic red blood cell (RBC) transfusion. The results indicate that the method was sufficient to find a difference between lipid mediators released in whole blood of SCA patients and those of healthy subjects, mainly for 5-HETE, 12-HETE, LTB4, LTE4, TXB2, and PGE2. In conclusion, our analytical method can detect significant changes in eicosanoid profiles in

  9. Intragraft vascular occlusive sickle crisis with early renal allograft loss in occult sickle cell trait.

    Science.gov (United States)

    Kim, Lisa; Garfinkel, Marc R; Chang, Anthony; Kadambi, Pradeep V; Meehan, Shane M

    2011-07-01

    Early renal allograft failure due to sickle cell trait is rare. We present clinical and pathologic findings in 2 cases of early renal allograft failure associated with renal vein thrombosis and extensive erythrocyte sickling. Hemoglobin AS was identified in retrospect. In case 1, a 41-year-old female recipient of a deceased donor renal transplant developed abdominal pain and acute allograft failure on day 16, necessitating immediate nephrectomy. In case 2, the transplanted kidney in a 58-year-old female recipient was noted to be mottled blue within minutes of reperfusion. At 24 hours, the patient was oliguric; and the graft was removed. Transplant nephrectomies had diffuse enlargement with diffuse, nonhemorrhagic, cortical, and medullary necrosis. Extensive sickle vascular occlusion was evident in renal vein branches; interlobar, interlobular, and arcuate veins; vasa recta; and peritubular capillaries. The renal arteries had sickle vascular occlusion in case 1. Glomeruli had only focal sickle vascular occlusion. The erythrocytes in sickle vascular occlusion had abundant cytoplasmic filaments by electron microscopy. Acute rejection was not identified in either case. Protein C and S levels, factor V Leiden, and lupus anticoagulant assays were within normal limits. Hemoglobin analysis revealed hemoglobin S of 21.8% and 25.6%, respectively. Renal allograft necrosis with intragraft sickle crisis, characterized by extensive vascular occlusive erythrocyte sickling and prominent renal vein thrombosis, was observed in 2 patients with sickle cell trait. Occult sickle cell trait may be a risk factor for early renal allograft loss.

  10. Características fenotípicas dos pacientes com anemia falciforme de acordo com os haplótipos do gene da βS-globina em Fortaleza, Ceará Phenotypic characteristics of patients with sickle cell anemia related to βS-Globin gene haplotypes in Fortaleza, Ceara

    Directory of Open Access Journals (Sweden)

    Lilianne B. Silva

    2010-02-01

    Full Text Available Foram analisados 47 pacientes com diagnóstico clínico, laboratorial e molecular de anemia falciforme, residentes em Fortaleza, Ceará, com a finalidade de fornecer informações sobre a influência dos haplótipos do gene da βS- globina nas características fenotípicas desta doença. A determinação dos valores hematológicos foi realizada em contador automático de células sanguíneas, e os níveis de HbF foram determinados pela técnica da desnaturação alcalina. O DNA foi isolado de leucócitos, a partir de amostras de sangue total. A análise dos haplótipos da mutação βS foi realizada por PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Lenght Polymorphism, sendo analisados seis sítios polimórficos de restrição. Os pacientes foram divididos em cinco grupos, de acordo com o tipo de haplótipo: Bantu/Bantu, Benin/Benin, Bantu/Benin, Bantu/Atípico e Benin/Atípico. O nível de significância considerado nas análises foi pWe analyzed 47 patients living in Fortaleza, Ceará with clinical, laboratory and molecular diagnosis of sickle cell anemia, in order to provide information on the influence of the βS-globin gene haplotypes on the phenotypic characteristics of this disease. The evaluation of hematological values was performed using an automated blood cell counter and the levels of HbF were determined by the alkali denaturation technique. The DNA was isolated from leukocytes from a whole blood sample. The analysis of the haplotypes of the βS mutation was achieved by PCR-RFLP, with an assessment of six polymorphic restriction sites. The patients were divided in 5 groups according to the type of haplotype: Bantu/Bantu, Benin/Benin, Bantu/Benin, Bantu/Atypical and Benin/Atypical. The level of significance was set for a p-value < 0.05. In the comparison between the haplotypes and the hematological characteristics, statistically significant differences were seen only for the values of HbF and Ht. The levels of HbF were

  11. [Tutankhamun and sickle-cell anaemia].

    Science.gov (United States)

    Pays, J-F

    2010-12-01

    After casting doubt on malaria as the cause of death for Tutankhamun, the author points out that the hypothesis of homozygotic sickle-cell anaemia, or a double HbS/β₀thal heterozygosis, is hardly more credible. To have any chance of being valid, any such hypothesis would have to involve a combination of at least three rare factors: survival until the age of 19 of a subject with homozygotic sickle-cell anaemia, with a probability at birth as to a life expectancy of more than five years probably standing at less than 5%, and with, for all bone sequelae and anomalies, osteonecrosis whose location is characteristic, not of sickle-cell anaemia, but rather of a case of Freiberg-Kohler syndrome, which is also rare, but which is on the other hand fully compatible with the condition of the mummy's skeleton.

  12. In silico mutation analysis of human beta globin gene in sickle cell disease patients

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    Hira Mubeen

    2016-05-01

    Conclusion: Studies suggested that there is need to maintain a primary prevention program to detect sickle cell disease at earlier stages despite having a large high risk. Preventive diagnosis and follow-up would reduce infant mortality by preventing the development of severe anemia as well as dangerous complications. In short, sickle cell disease surveillance would avert loss of life, measured as the number of years lost due to ill-health, disability or early death. [Int J Res Med Sci 2016; 4(5.000: 1673-1677

  13. Heart valve surgery in patients with homozygous sickle cell disease: A management strategy

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    El Mehdi Moutaouekkil

    2015-01-01

    Full Text Available Background: Patients with the homozygous sickle cell disease have increased perioperative mortality. Some indications like heart valve surgery, may justify an exchange blood transfusion to reduce the proportion of hemoglobin S (HbS and complications. Subjects and Methods: We report two female cases aged 20 and 27, of African origin with homozygous sickle cell anemia who underwent heart valve surgery to treat mitral valve regurgitation. This presentation describes the perioperative considerations including anesthesia and postoperative care. Results: A partial exchange blood transfusion decreased HbS levels from respectively, 90% and 84%, 9% to 27% and 34%, and simultaneously treated the anemia. Neither sickling crisis nor acidosis occurred in any patient, and no special postoperative complication occurred. Average hospital stay was 10 days. Currently, the two patients remain alive and free of cardiac symptoms. Discussion: Although the presence of sickle cell disorders is associated with increased risk of sickling and thus vaso-occlusive complications, they should not be taken as a contraindication for heart valve surgery. Nevertheless, monitoring of certain parameters such as venous, arterial oxygen content, pH, and body temperature is mandatory for a better outcome. Furthermore, preoperative exchange transfusion has a positive influence on the outcome of surgery and on the survival of patients undergoing heart valves surgery. Avoiding intraoperative hypoxia, hypothermia, and vaso-constrictive agents, minimizing HbS levels with preoperative exchange transfusion, and ensuring a stress-free environment with the judicious use of sedatives made surgery relatively safe in these cases.

  14. Sobrecarga e quelação de ferro na anemia falciforme Iron overload and iron chelation in sickle cell disease

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    Rodolfo D. Cançado

    2007-09-01

    Full Text Available Pacientes cronicamente transfundidos desenvolvem sobrecarga de ferro que ocasiona lesão orgânica e morte. Nos últimos trinta anos, pacientes com sobrecarga de ferro transfusional dependem de infusões noturnas de desferroxamina para quelação de ferro. Apesar da dramática melhora da expectativa de vida na era da desferroxamina para pacientes com anemias dependentes de transfusão, 50% dos pacientes com talassemia maior morrem antes dos 30 anos de idade, predominantemente devido à insuficiência cardíaca induzida pelo ferro. A difícil natureza desse tratamento com infusão subcutânea prolongada por meio de aparelho infusor portátil motivou o desenvolvimento de formas alternativas de tratamento que facilitasse a aderência do paciente. Estratégias para reduzir a sobrecarga de ferro e suas conseqüências, através da melhora dos regimes de quelação, foram as prioridades mais importantes nos últimos anos. Nesta revisão, descrevemos os avanços mais importantes da terapia quelante de ferro. Em particular, analisamos os dois quelantes de ferro ativos por via oral: deferiprona e o novo quelante de ferro oral deferasirox.Patients who are chronically dependent on transfusions will develop iron overload that leads to organ damage and eventually to death. For nearly 30 years, patients with transfusional iron overload have been subject to overnight deferoxamine infusions for iron chelation. Despite dramatic gains in terms of life expectancy in the deferoxamine era for patients with transfusion-dependent anemias, 50% of patients with thalassemia major die before the age of 35 years, predominantly due to iron-induced heart failure. The very demanding nature of this treatment with prolonged subcutaneous infusion via portable pump infusions has been the motivation for attempts to develop alternative forms of treatment that would facilitate the patients' compliance. Strategies to reduce iron overload and its consequences by improving chelation

  15. Clinical, hematological, and molecular characterization of sickle cell anemia pediatric patients from two different cities in Brazil Caracterização clínica, hematológica e molecular de crianças portadoras da anemia falciforme em duas diferentes cidades do Brasil

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    Isa Menezes Lyra

    2005-08-01

    Full Text Available This study focused on clinical, hematological, and molecular aspects of sickle cell anemia pediatric patients from two different cites in Brazil. Seventy-one patients from São Paulo and Salvador, aged 3 to 18 years, were evaluated. Hematological analyses, betaS globin gene haplotypes, and alpha2 3.7kb-thalassemia were performed. Numbers of hospitalizations due to vaso-occlusive crises, infections, stroke, and cholelithiasis were investigated. São Paulo had more hospitalizations from vaso-occlusion, cholelithiasis, and stroke than Salvador. The Ben/CAR genotype predominated in both cities. alpha2 3.7kb-thalassemia had a frequency of 28.2% in Salvador, mostly with Ben/CAR genotype (45.0%, while São Paulo had 22.5% with similar frequencies of the Ben/ CAR and CAR/CAR genotypes. Sickle cell anemia patients from São Paulo also had more episodes of stroke, which was observed among CAR/CAR, atypical, and BEN/CAR haplotypes. In Salvador stroke was only observed in the Ben/CAR genotype. Cholelithiasis had similar frequencies in the two cities. These data suggest a milder phenotype among patients in Salvador, possibly due to genetic, environmental, and socioeconomic factors. Further studies are needed to elucidate modulating factors and phenotype association.O objetivo desse estudo foi avaliar aspectos clínicos, hematológicos e moleculares de pacientes pediátricos portadores de anemia falciforme em duas cidades brasileiras: Salvador e São Paulo. Foram estudados 71 pacientes com idades variando entre 3 a 18 anos, analisando-se os seguintes aspectos: perfis hematológicos, haplótipos dos genes da globina beta, presença de talassemia alfa-2(3.7kb, número de internações por vaso-oclusão, infecção, presença de acidente vascular cerebral e litíase biliar. O genótipo Ben/CAR predominou nas duas cidades. Talassemia alfa-2(3.7kb teve freqüência de 28,2% em Salvador e 22,5% em São Paulo. Os pacientes de São Paulo apresentaram um número maior

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

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    Maryam Bibi Rumaney

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

  17. Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management

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    Samir K. Ballas

    2012-01-01

    Full Text Available The sickle hemoglobin is an abnormal hemoglobin due to point mutation (GAG → GTG in exon 1 of the β globin gene resulting in the substitution of glutamic acid by valine at position 6 of the β globin polypeptide chain. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of sickle cell disease in general and sickle cell anemia in particular. The disease itself is chronic in nature but many of its complications are acute such as the recurrent acute painful crises (its hallmark, acute chest syndrome, and priapism. These complications vary considerably among patients, in the same patient with time, among countries and with age and sex. To date, there is no well-established consensus among providers on the management of the complications of sickle cell disease due in part to lack of evidence and in part to differences in the experience of providers. It is the aim of this paper to review available current approaches to manage the major complications of sickle cell disease. We hope that this will establish another preliminary forum among providers that may eventually lead the way to better outcomes.

  18. β-Globin sleeping beauty transposon reduces red blood cell sickling in a patient-derived CD34(+)-based in vitro model.

    Science.gov (United States)

    Sjeklocha, Lucas M; Wong, Phillip Y-P; Belcher, John D; Vercellotti, Gregory M; Steer, Clifford J

    2013-01-01

    The ultimate goal of gene therapy for sickle cell anemia (SCA) is an improved phenotype for the patient. In this study, we utilized bone marrow from a sickle cell patient as a model of disease in an in vitro setting for the hyperactive Sleeping Beauty transposon gene therapy system. We demonstrated that mature sickle red blood cells containing hemoglobin-S and sickling in response to metabisulfite can be generated in vitro from SCA bone marrow. These cells showed the characteristic morphology and kinetics of hemoglobin-S polymerization, which we quantified using video microscopy and imaging cytometry. Using video assessment, we showed that delivery of an IHK-β(T87Q) antisickling globin gene by Sleeping Beauty via nucleofection improves metrics of sickling, decreasing percent sickled from 53.2 ± 2.2% to 43.9 ± 2.0%, increasing the median time to sickling from 8.5 to 9.6 min and decreasing the maximum rate of sickling from 2.3 x 10(-3) sickling cells/total cells/sec in controls to 1.26 x 10(-3) sickling cells/total cells/sec in the IHK-β(T87Q)-globin group (p cells decreased from 34.8 ± 4.5% to 29.5 ± 3.0% in control versus treated (p red blood cells in vitro.

  19. Sickle Cell: A Selected Resource Bibliography.

    Science.gov (United States)

    National Center for Education in Maternal and Child Health, Washington, DC.

    This annotated, selective bibliography lists the following types of educational and informational material on both sickle cell disease and trait: (1) professional education materials; (2) fact sheets, pamphlets, and brochures; and (3) audiovisual material. A selected list of references is provided for the following topic areas: (1) genetic…

  20. Sickle Cell Disease as a Neurodevelopmental Disorder

    Science.gov (United States)

    Schatz, Jeffrey; McClellan, Catherine B.

    2006-01-01

    Sickle cell disease (SCD) is a blood disorder; however, the central nervous system (CNS) is one of the organs frequently affected by the disease. Brain disease can begin early in life and often leads to neurocognitive dysfunction. Approximately one-fourth to one-third of children with SCD have some form of CNS effects from the disease, which…

  1. Sickle Cell Disease: What You Should Know

    Centers for Disease Control (CDC) Podcasts

    2008-09-10

    This podcast is for a general audience and gives information about sickle cell disease.  Created: 9/10/2008 by National Center on Birth Defects and Developmental Disabilities, Division of Blood Disorders.   Date Released: 9/15/2008.

  2. Brain Injury with Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-11-01

    Full Text Available The relationship between brain injury and vasculopathy in 146 sickle cell (SCD patients with hemoglobin SS, the most serious form of SCD, was evaluated by MRI and MRA at St Jude Children’s Research Hospital, Memphis, TN.

  3. Management of sickle cell disease: challenges and risks of transfusion

    Directory of Open Access Journals (Sweden)

    Serjeant GR

    2016-10-01

    Full Text Available Graham R Serjeant Sickle Cell Trust (Jamaica, Kingston, Jamaica Abstract: Homozygous sickle cell (SS disease is associated with rapid red cell destruction and a tendency to block flow in blood vessels. The bone marrow expansion needed to compensate for the rapid red cell destruction increases metabolic demands and folate requirements but also renders the bone marrow prone to suppression by renal impairment and infections especially those with human parvovirus B19. The abnormal red cells also tend to block blood vessels impairing flow in the bone marrow (dactylitis, bone pain crisis, hip necrosis, the spleen (acute splenic sequestration, chronic hypersplenism, loss of the normal filtering system rendering patients prone to overwhelming septicemia, the lungs (pulmonary embolism, acute chest syndrome, and the brain (ischemic stroke, hemorrhage. Transfusion plays a role in addressing all of these pathologies. During the acute lowering of hemoglobin due to acute splenic sequestration and aplastic crisis and the persistent lowering of hemoglobin due to chronic hypersplenism and chronic renal failure, top-up transfusions may help in maintaining oxygen delivery and symptomatic relief. Addressing vaso-occlusion is more complex but best documented in preventing recurrent stroke and primary stroke following detection of cerebral vessel stenosis by transcranial Doppler. Although top-up transfusions have minimal side effects, potentially serious complications arise from chronic transfusion, and there are many unanswered questions on the duration of such therapy and the natural history of the underlying complications. These issues are addressed with the knowledge currently available. Keywords: sickle hemoglobin, HbS, transfusion, oxygen affinity, anemia, vaso-occlusion

  4. Asthma in Sickle Cell Disease: Implications for Treatment

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    Kathryn Blake

    2011-01-01

    Full Text Available Objective. To review issues related to asthma in sickle cell disease and management strategies. Data Source. A systematic review of pertinent original research publications, reviews, and editorials was undertaken using MEDLlNE, the Cochrane Library databases, and CINAHL from 1947 to November 2010. Search terms were [asthma] and [sickle cell disease]. Additional publications considered relevant to the sickle cell disease population of patients were identified; search terms included [sickle cell disease] combined with [acetaminophen], [pain medications], [vitamin D], [beta agonists], [exhaled nitric oxide], and [corticosteroids]. Results. The reported prevalence of asthma in children with sickle cell disease varies from 2% to approximately 50%. Having asthma increases the risk for developing acute chest syndrome , death, or painful episodes compared to having sickle cell disease without asthma. Asthma and sickle cell may be linked by impaired nitric oxide regulation, excessive production of leukotrienes, insufficient levels of Vitamin D, and exposure to acetaminophen in early life. Treatment of sickle cell patients includes using commonly prescribed asthma medications; specific considerations are suggested to ensure safety in the sickle cell population. Conclusion. Prospective controlled trials of drug treatment for asthma in patients who have both sickle cell disease and asthma are urgently needed.

  5. A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells.

    Science.gov (United States)

    Park, Seonmi; Gianotti-Sommer, Andreia; Molina-Estevez, Francisco Javier; Vanuytsel, Kim; Skvir, Nick; Leung, Amy; Rozelle, Sarah S; Shaikho, Elmutaz Mohammed; Weir, Isabelle; Jiang, Zhihua; Luo, Hong-Yuan; Chui, David H K; Figueiredo, Maria Stella; Alsultan, Abdulraham; Al-Ali, Amein; Sebastiani, Paola; Steinberg, Martin H; Mostoslavsky, Gustavo; Murphy, George J

    2017-04-11

    Sickle cell anemia affects millions of people worldwide and is an emerging global health burden. As part of a large NIH-funded NextGen Consortium, we generated a diverse, comprehensive, and fully characterized library of sickle-cell-disease-specific induced pluripotent stem cells (iPSCs) from patients of different ethnicities, β-globin gene (HBB) haplotypes, and fetal hemoglobin (HbF) levels. iPSCs stand to revolutionize the way we study human development, model disease, and perhaps eventually, treat patients. Here, we describe this unique resource for the study of sickle cell disease, including novel haplotype-specific polymorphisms that affect disease severity, as well as for the development of patient-specific therapeutics for this phenotypically diverse disorder. As a complement to this library, and as proof of principle for future cell- and gene-based therapies, we also designed and employed CRISPR/Cas gene editing tools to correct the sickle hemoglobin (HbS) mutation.

  6. A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells

    Directory of Open Access Journals (Sweden)

    Seonmi Park

    2017-04-01

    Full Text Available Sickle cell anemia affects millions of people worldwide and is an emerging global health burden. As part of a large NIH-funded NextGen Consortium, we generated a diverse, comprehensive, and fully characterized library of sickle-cell-disease-specific induced pluripotent stem cells (iPSCs from patients of different ethnicities, β-globin gene (HBB haplotypes, and fetal hemoglobin (HbF levels. iPSCs stand to revolutionize the way we study human development, model disease, and perhaps eventually, treat patients. Here, we describe this unique resource for the study of sickle cell disease, including novel haplotype-specific polymorphisms that affect disease severity, as well as for the development of patient-specific therapeutics for this phenotypically diverse disorder. As a complement to this library, and as proof of principle for future cell- and gene-based therapies, we also designed and employed CRISPR/Cas gene editing tools to correct the sickle hemoglobin (HbS mutation.

  7. Sickle Cell Research: Symptoms, Diagnosis, Treatment and Recent Developments | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... Special Section: Sickle Cell Disease Sickle Cell Disease: Symptoms, Diagnosis, Treatment and Recent Developments Past Issues / Winter 2011 Table of Contents Symptoms Sickle cell disease is present at birth, but ...

  8. Tract specific analysis in patients with sickle cell disease

    Science.gov (United States)

    Chai, Yaqiong; Coloigner, Julie; Qu, Xiaoping; Choi, Soyoung; Bush, Adam; Borzage, Matt; Vu, Chau; Lepore, Natasha; Wood, John

    2015-12-01

    Sickle cell disease (SCD) is a hereditary blood disorder in which the oxygen-carrying hemoglobin molecule in red blood cells is abnormal. It affects numerous people in the world and leads to a shorter life span, pain, anemia, serious infections and neurocognitive decline. Tract-Specific Analysis (TSA) is a statistical method to evaluate white matter alterations due to neurocognitive diseases, using diffusion tensor magnetic resonance images. Here, for the first time, TSA is used to compare 11 major brain white matter (WM) tracts between SCD patients and age-matched healthy subjects. Alterations are found in the corpus callosum (CC), the cortico-spinal tract (CST), inferior fronto-occipital fasciculus (IFO), inferior longitudinal fasciculus (ILF), superior longitudinal fasciculus (SLF), and uncinated fasciculus (UNC). Based on previous studies on the neurocognitive functions of these tracts, the significant areas found in this paper might be related to several cognitive impairments and depression, both of which are observed in SCD patients.

  9. Quantitative microscopy and nanoscopy of sickle red blood cells performed by wide field digital interferometry

    Science.gov (United States)

    Shaked, Natan T.; Satterwhite, Lisa L.; Telen, Marilyn J.; Truskey, George A.; Wax, Adam

    2011-03-01

    We have applied wide-field digital interferometry (WFDI) to examine the morphology and dynamics of live red blood cells (RBCs) from individuals who suffer from sickle cell anemia (SCA), a genetic disorder that affects the structure and mechanical properties of RBCs. WFDI is a noncontact, label-free optical microscopy approach that can yield quantitative thickness profiles of RBCs and measurements of their membrane fluctuations at the nanometer scale reflecting their stiffness. We find that RBCs from individuals with SCA are significantly stiffer than those from a healthy control. Moreover, we show that the technique is sensitive enough to distinguish classes of RBCs in SCA, including sickle RBCs with apparently normal morphology, compared to the stiffer crescent-shaped sickle RBCs. We expect that this approach will be useful for diagnosis of SCA and for determining efficacy of therapeutic agents.

  10. Análise dos haplótipos da anemia falciforme em Fortaleza revela as origens étnicas da população cearense Analysis of sickle cell anemia haplotypes in Fortaleza reveals the ethnic origins of Ceará state population

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    Lilianne Brito da Silva

    2009-04-01

    Full Text Available Os haplótipos ligados ao gene da βS-globina foram analisados em uma amostra de 68 cromossomos de pacientes de Fortaleza, capital do Ceará, com anemia falciforme (AF, com a finalidade de fornecer informações sobre a distribuição das frequências dos haplótipos, contribuindo para o estudo das origens da formação étnica da população cearense. A distribuição dos haplótipos do gene da βS-globina foi 66,2% do tipo Bantu, 22% do Benin e 11,8% do atípico. Houve diferença estatisticamente significativa entre o presente estudo e os resultados de outros pesquisadores no Ceará. A distribuição das frequências dos haplótipos do gene da βS-globina no presente estudo está condizente com a história da formação da população brasileira. Conforme dados históricos sobre as origens da população negra trazida ao Ceará, o haplótipo Bantu seria o mais prevalente, seguido pelo Benin e Senegal. Estes resultados são relevantes para o estudo das rotas de tráfico dos escravos no Brasil e para entendermos as origens étnicas da população brasileira.In a sample of 68 chromosomes from sickle cell anemia patients from the population of Fortaleza, capital of Ceará State - Brazil, the haplotypes connected with βS-globin gene were analyzed with the aim to provide further information on haplotype frequency distribution, which ultimately contributed to the investigation into the ethnic origins of the state's population. The haplotype distribution of βS-globin gene was 66.2% Bantu type, 22% Benin type and 11.8% atypical. There was a significant statistical difference between the results of the present study and those achieved by other researchers in Ceará. The distribution of haplotype frequencies of βS-globin gene in the present study is consistent with the history of the Brazilian population origins. According to historical data on the origins of the slave population brought to Ceará State, Bantu haplotype would be the most prevalent

  11. Managing Acute Complications Of Sickle Cell Disease In Pediatric Patients.

    Science.gov (United States)

    Subramaniam, Sathyaseelan; Chao, Jennifer H

    2016-11-01

    Sickle cell disease is a chronic hematologic disease with a variety of acute, and often recurring, complications. Vaso-occlusive crisis, a unique but common presentation in sickle cell disease, can be challenging to manage. Acute chest syndrome is the leading cause of death in patients with sickle cell disease, occurring in more than half of patients who are hospitalized with a vaso-occlusive crisis. Uncommon diagnoses in children, such as stroke, priapism, and transient red cell aplasia, occur more frequently in patients with sickle cell disease and necessitate a degree of familiarity with the disease process and its management. Patients with sickle cell trait generally have a benign course, but are also subject to serious complications. This issue provides a current review of evidence-based management of the most common acute complications of sickle cell disease seen in pediatric patients in the emergency department.

  12. Elevated pulse pressure is associated with hemolysis, proteinuria and chronic kidney disease in sickle cell disease.

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    Enrico M Novelli

    Full Text Available A seeming paradox of sickle cell disease is that patients do not suffer from a high prevalence of systemic hypertension in spite of endothelial dysfunction, chronic inflammation and vasculopathy. However, some patients do develop systolic hypertension and increased pulse pressure, an increasingly recognized major cardiovascular risk factor in other populations. Hence, we hypothesized that pulse pressure, unlike other blood pressure parameters, is independently associated with markers of hemolytic anemia and cardiovascular risk in sickle cell disease. We analyzed the correlates of pulse pressure in patients (n  =  661 enrolled in a multicenter international sickle cell trial. Markers of hemolysis were analyzed as independent variables and as a previously validated hemolytic index that includes multiple variables. We found that pulse pressure, not systolic, diastolic or mean arterial pressure, independently correlated with high reticulocyte count (beta  =  2.37, p  =  0.02 and high hemolytic index (beta  =  1.53, p = 0.002 in patients with homozygous sickle cell disease in two multiple linear regression models which include the markers of hemolysis as independent variables or the hemolytic index, respectively. Pulse pressure was also independently associated with elevated serum creatinine (beta  =  3.21, p  =  0.02, and with proteinuria (beta  =  2.52, p  =  0.04. These results from the largest sickle cell disease cohort to date since the Cooperative Study of Sickle Cell Disease show that pulse pressure is independently associated with hemolysis, proteinuria and chronic kidney disease. We propose that high pulse pressure may be a risk factor for clinical complications of vascular dysfunction in sickle cell disease. Longitudinal and mechanistic studies should be conducted to confirm these hypotheses.

  13. Pregnancy in Sickle Cell Disease Is a Very High-Risk Situation: An Observational Study

    Science.gov (United States)

    Elenga, Narcisse; Adeline, Aurélie; Balcaen, John; Vaz, Tania; Calvez, Mélanie; Terraz, Anne; Accrombessi, Laetitia; Carles, Gabriel

    2016-01-01

    Sickle cell disease is a serious genetic disorder affecting 1/235 births in French Guiana. This study aimed to describe the follow-up of pregnancies among sickle cell disease patients in Cayenne Hospital, in order to highlight the most reported complications. 62 records of pregnancies were analyzed among 44 females with sickle cell disease, between 2007 and 2013. Our results were compared to those of studies conducted in Brazil and Guadeloupe. There were 61 monofetal pregnancies and 2 twin pregnancies, 27 pregnancies among women with SS phenotype, 30 SC pregnancies, and five S-beta pregnancies. The study showed that the follow-up of patients was variable, but no maternal death was found. We also noted that the main maternofetal complications of pregnancies were anemia (36.5%), infection (31.7%), vasoocclusive crisis (20.6%), preeclampsia (17.5%), premature birth (11.1%), intrauterine growth retardation (15.9%), abnormal fetal heart rate (14.3%), and intrauterine fetal death (4.8%). Pregnancies were more at risk among women with SS phenotype. Pregnancy in sickle cell disease patients requires a supported multidisciplinary team including the primary care physician, the obstetrician, and the Integrated Center for Sickle Cell Disease. PMID:27403164

  14. Pregnancy in Sickle Cell Disease Is a Very High-Risk Situation: An Observational Study

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    Narcisse Elenga

    2016-01-01

    Full Text Available Sickle cell disease is a serious genetic disorder affecting 1/235 births in French Guiana. This study aimed to describe the follow-up of pregnancies among sickle cell disease patients in Cayenne Hospital, in order to highlight the most reported complications. 62 records of pregnancies were analyzed among 44 females with sickle cell disease, between 2007 and 2013. Our results were compared to those of studies conducted in Brazil and Guadeloupe. There were 61 monofetal pregnancies and 2 twin pregnancies, 27 pregnancies among women with SS phenotype, 30 SC pregnancies, and five S-beta pregnancies. The study showed that the follow-up of patients was variable, but no maternal death was found. We also noted that the main maternofetal complications of pregnancies were anemia (36.5%, infection (31.7%, vasoocclusive crisis (20.6%, preeclampsia (17.5%, premature birth (11.1%, intrauterine growth retardation (15.9%, abnormal fetal heart rate (14.3%, and intrauterine fetal death (4.8%. Pregnancies were more at risk among women with SS phenotype. Pregnancy in sickle cell disease patients requires a supported multidisciplinary team including the primary care physician, the obstetrician, and the Integrated Center for Sickle Cell Disease.

  15. Anemia

    Science.gov (United States)

    ... are affected. Low levels of red blood cells leads to anemia. With low levels of white blood cells, the ... foods they eat. Food fads and dieting can lead to anemia. Talk to your doctor about taking iron pills ( ...

  16. Sickle cell syndrome. Association between hemoglobin S and β thalassemia

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    Nehuen P. Gasparini

    2016-12-01

    Full Text Available Sickle cell syndrome HbS/β thalassemia is an inheritable mendelian type disease where two affected alleles are simultaneously present, one from HbS (βS and the other from β thalassemia. That situation is mainly linked to individuals who share African and Mediterranean ancestors. The mutation responsible for HbS is a point mutation, whereas for β thalassemia, there are more than 200 mutations that cause different degrees of deficiency synthesis of β globin chain, which justifies the clinical and genetic heterogeneity of this syndrome. It is presented a clinical case of a young adult man with limited resources that consulted by longstanding bone pain. The patient presented anemia with a marked microcytosis. Hemoglobin electrophoresis was performed, an abnormal peak in position of HbS and high HbA2 fraction were detected. These last results indicated two possible molecular alterations simultaneously, for this reason the molecular study was performed looking for the most common β thalassemia mutations in our population and, the point mutation responsible for S hemoglobinopathy. Clinical data and biochemical laboratory allowed the diagnosis of sickle cell syndrome. The molecular study confirmed the syndrome carrying mutations IVS-I nt 110 G > A, responsible for β thalassemia and, codon 6 A > T (GAG → GTG: Glu → Val responsible for S hemoglobinophaty. Since it is a disease of high health impact, it is important to provide genetic counseling to the whole family.

  17. [Acute encephalic manifestations in Senegalese children with sickle cell disease].

    Science.gov (United States)

    Diagne, I; Diagne-Guèye, N R; Fall, L; Ndiaye, O; Camara, B; Diouf, S; Signate-Sy, H; Kuakuvi, N

    2001-01-01

    The course of sickle cell disease (SCD) may be complicated by neurologic events, mainly bactérial meningitidis and stroke. We retrospectively studied all cases with acute encephalic manifestations (AEM) in a cohort of 461 children and adolescents with SCD followed at Albert Royer Children Hospital of Dakar (Senegal) from january 1991 to december 2000 (ten years). Among them 438 had sickle cell anemia (SCA), 19 SC disease and 4 S-beta thalassemia (3 S-beta+, 1 S-beta0). Seven patients, all with SCA, presented antecedents of AEM revealed by flacid and proportionnal hemiplegia evoking stroke. Prevalence of these AEM was 1.5 per cent among patients with SCD and 1.6 per cent among those with SCA. They were 4 girls and 3 boys (sex ratio = 0.75) aged 4 to 8.5 years when occurred the first accident. We observed no clinical or biological distinctive characteristic of SCA in these patients compared to those without crebrovascular accident. Recurrence was observed once in a boy after a 12 months interval and twice in a girl after 20 and 60 months intervals successively. No transfusionnal program was applied to prevent recurrent stroke because of insufficient conditions for long-term transfusion. Stroke appears to be rare in senegalese children with SCD. However it poses in our context the major problem of applicability of transfusionnal program which constitute the only therapy universally recognised to be effective to prevent recurrence. Nevertheless hydroxyurea could be a satisfactory alternative.

  18. Improved survival of children and adolescents with sickle cell disease.

    Science.gov (United States)

    Quinn, Charles T; Rogers, Zora R; McCavit, Timothy L; Buchanan, George R

    2010-04-29

    The survival of young children with sickle cell disease (SCD) has improved, but less is known about older children and adolescents. We studied the Dallas Newborn Cohort (DNC) to estimate contemporary 18-year survival for newborns with SCD and document changes in the causes and ages of death over time. We also explored whether improvements in the quality of medical care were temporally associated with survival. The DNC now includes 940 subjects with 8857 patient-years of follow-up. Most children with sickle cell anemia (93.9%) and nearly all children with milder forms of SCD (98.4%) now live to become adults. The incidence of death and the pattern of mortality changed over the duration of the cohort. Sepsis is no longer the leading cause of death. All the recent deaths in the cohort occurred in patients 18 years or older, most shortly after the transition to adult care. Quality of care in the DNC has improved over time, with significantly more timely initial visits and preventive interventions for young children. In summary, most children with SCD now survive the childhood years, but young adults who transition to adult medical care are at high risk for early death.

  19. Sickle Cell Disease in the Emergency Department: Atypical Complications and Management”

    OpenAIRE

    Brandow, Amanda M.; Liem, Robert

    2011-01-01

    Sickle cell disease is the most common inherited blood disorder in the United States. This disorder of hemoglobin structure leads to a chronic hemolytic anemia and complex chronic disease manifested by sudden, severe, and life-threatening complications. These acute complications can occur in any organ system beginning in early childhood and lasting throughout life. The intermittent nature and acuity of these complications lend the emergency department to be an important site of care. The hall...

  20. The radiological manifestations of sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Madani, G. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom)]. E-mail: gittamadani@yahoo.com; Papadopoulou, A.M. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Holloway, B. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Robins, A. [Department of Paediatrics, Whittington Hospital NHS Trust, London (United Kingdom); Davis, J. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom); Murray, D. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom)

    2007-06-15

    Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD.

  1. Minimal doses of hydroxyurea for sickle cell disease

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    C.S.P. Lima

    1997-08-01

    Full Text Available The use of hydroxyurea (HU can improve the clinical course of sickle cell disease. However, several features of HU treatment remain unclear, including the predictability of drug response and determination of adequate doses, considering positive responses and minimal side effects. In order to identify adequate doses of HU for treatment of sickle cell disease, 10 patients, 8 with sickle cell anemia and 2 with Sß thalassemia (8SS, 2Sß, were studied for a period of 6 to 19 months in an open label dose escalation trial (10 to 20 mg kg-1 day-1. Hemoglobin (Hb, fetal hemoglobin (Hb F and mean corpuscular volume (MCV values and reticulocyte, neutrophil and platelet counts were performed every two weeks during the increase of the HU dose and every 4 weeks when the maximum HU dose was established. Reduction in the number of vasoocclusive episodes was also considered in order to evaluate the efficiency of the treatment. The final Hb and Hb F concentrations, and MCV values were significantly higher than the initial values, while the final reticulocyte and neutrophil counts were significantly lower. There was an improvement in the concentration of Hb (range: 0.7-2.0 g/dl at 15 mg HU kg-1 day-1, but this concentration did not increase significantly when the HU dose was raised to 20 mg kg-1 day-1. The concentration of Hb F increased significantly (range: 1.0-18.1% when 15 mg HU was used, and continued to increase when the dose was raised to 20 mg kg-1 day-1. The final MCV values increased 11-28 fl (femtoliters. However, reticulocyte (range: 51-205 x 109/l and neutrophil counts (range: 9.5-1.3 x 109/l obtained at this dose were significantly lower than those obtained with 15 mg kg-1 day-1. All patients reported a decrease in frequency or severity of vasoocclusive episodes. These results suggest that a hydroxyurea dose of 15 mg kg-1 day-1 seems to be adequate for treatment of sickle cell disease in view of the minimal side effects observed and the improvement

  2. Absence of atypical haplotype and presence of Senegal haplotype sickle cell disease in African-descent population in the northern Brazil

    OpenAIRE

    Nascimento,Rafael E.; Castelo,Natália M.; Bueno,Adriana C.; Larissa Mescouto; Artemis S. N. Rodrigues

    2015-01-01

    Introduction: Sickle cell anemia (SCA) is the most severe form of sickle cell disease; it presents variants that are called haplotypes βS. There are five major haplotypes βS gene: Arab-Indian/Saudi, Senegal, Benin, Bantu, and Camaroon. Objective: Characterize the presence of haplotypes in patients with SCA in Amapá. Methods: 46 sample were studied, all samples were amplified and analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Resul...

  3. Sickle cell microRNAs inhibit the malaria parasite.

    Science.gov (United States)

    Duraisingh, Manoj T; Lodish, Harvey F

    2012-08-16

    Sickle cell hemoglobin conveys resistance to malaria. In this issue of Cell Host & Microbe, LaMonte et al. (2012) demonstrate a surprising mechanism for this innate immunity. A microRNA enriched in sickle red blood cells is translocated into the parasite, incorporated covalently into P. falciparum mRNAs and inhibits parasite growth.

  4. Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India.

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    Dipti S Upadhye

    Full Text Available Sickle cell disease (SCD is a major health burden in India. The objective of the study was to establish a neonatal screening program and to understand the clinical course of children with SCD in central India.Pregnant mothers were screened for sickle hemoglobin using the solubility test. Babies were screened by high performance liquid chromatography if the mother was positive for sickle hemoglobin. The diagnosis was confirmed by molecular analysis. They received early prophylactic treatment and vaccination. Of 2134 newborns screened, 104 were sickle homozygous (SS, seven had sickle β-thalassemia (S-β thal and 978 were sickle heterozygous (AS. The other hemoglobin abnormalities detected included HbS-δβ thalassemia-1, HbSD disease-2, HbE traits-5, β-thalassemia traits-4, alpha chain variants-3 and HbH disease-1.These babies were followed up regularly for hematological and clinical evaluation. Pain, severe anemia requiring blood transfusions and acute febrile illness were the major complications with 59.7, 45.1 and 42.6 cases per 100 person years. Fetal hemoglobin (HbF levels were inversely associated with vaso-oclussive crisis (VOC and severe anemia while presence of alpha thalassemia increased the rate of painful events and sepsis. Six early deaths occurred among the SS babies.A systematic follow up of this first newborn SCD cohort in central India showed that 47% of babies presented within 1 year of age. In spite of the presence of the Arab-Indian haplotype many babies had severe manifestations.

  5. β-Globin sleeping beauty transposon reduces red blood cell sickling in a patient-derived CD34(+-based in vitro model.

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    Lucas M Sjeklocha

    Full Text Available The ultimate goal of gene therapy for sickle cell anemia (SCA is an improved phenotype for the patient. In this study, we utilized bone marrow from a sickle cell patient as a model of disease in an in vitro setting for the hyperactive Sleeping Beauty transposon gene therapy system. We demonstrated that mature sickle red blood cells containing hemoglobin-S and sickling in response to metabisulfite can be generated in vitro from SCA bone marrow. These cells showed the characteristic morphology and kinetics of hemoglobin-S polymerization, which we quantified using video microscopy and imaging cytometry. Using video assessment, we showed that delivery of an IHK-β(T87Q antisickling globin gene by Sleeping Beauty via nucleofection improves metrics of sickling, decreasing percent sickled from 53.2 ± 2.2% to 43.9 ± 2.0%, increasing the median time to sickling from 8.5 to 9.6 min and decreasing the maximum rate of sickling from 2.3 x 10(-3 sickling cells/total cells/sec in controls to 1.26 x 10(-3 sickling cells/total cells/sec in the IHK-β(T87Q-globin group (p < 0.001. Using imaging cytometry, the percentage of elongated sickled cells decreased from 34.8 ± 4.5% to 29.5 ± 3.0% in control versus treated (p < 0.05. These results support the potential use of Sleeping Beauty as a clinical gene therapy vector and provide a useful tool for studying sickle red blood cells in vitro.

  6. Anestesia em paciente obstétrica portadora de anemia falciforme e traço talassêmico após plasmaféresis: relato de caso Anesthesia in obstetric patient with sickle cell anemia and thalassemic trait after plasmapheresis: case report

    Directory of Open Access Journals (Sweden)

    Eduardo Barbosa Leão

    2005-06-01

    encaminada a la UTI, bajo intubación orotraqueal, y en uso de drogas vasoactivas, habiendo sido extubada después de 3 horas. CONCLUSIONES: Este caso se mostró un desafío para el equipo, ya que la paciente presentaba inestabilidad hemodinámica y alteración del coagulograma, condiciones que contraindican la anestesia regional, además de esto, la plasmaféresis potencialmente depleta las existencias de colinesterasas plasmáticas, lo que interfiere en la anestesia. Mientras, el arsenal medicamentoso disponible, permitió el manoseo seguro de esta situación.BACKGROUND AND OBJECTIVES: Plasmapheresis is the technique of choice for severe hemolytic anemia patients. A consequence is plasma cholinesterase depletion, which interferes with metabolism of some neuromuscular blockers currently used in anesthesiology. CASE REPORT: Pregnant patient, 26 years old, physical status ASA IV, 30 weeks and 3 days gestational age, with sickle cell anemia, thalassemic trait and allo-immunization for high frequency antigens. Patient presented sickling crisis being transfused with incompatible blood. Patient evolved with massive hemolysis being admitted with 3 g/dL hemoglobin and 10% hematocrit, severe jaundice, tachycardia, apathic and pale. Hematological evaluation has concluded for the inexistence of compatible blood for transfusion. Patient was treated with steroids, immunoglobulins and plasmapheresis. In the second admission day patient evolved with acute renal failure and pulmonary edema, general state worsening and hemodynamic instability. Gestation resolution was indicated due to patient's clinical conditions and consequent acute fetal suffering. Patient was admitted to the operating room conscious, pale, with dyspnea, jaundice, 91% SpO2 in room air, heart rate of 110 bpm and blood pressure of 110 x 70 mmHg, under dopamine (1 µg.kg-1.min-1 and dobutamine (10 µg.kg-1.min-1. We decided for balanced general anesthesia with alfentanil (2.5 mg, etomidate (14 mg, atracurium (35 mg and

  7. Ter anemia falciforme: nota prévia sobre seu significado para a criança expresso através da brincadeira Tener anemia falciforme: nota previa sobre el significado para el niño expresado a través del juego Having sickle-cell disease: short communication on the meaning for children as expressed through games what it means for them to have the disease

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    Ana Augusta Maciel de Souza

    2011-03-01

    Full Text Available Nota prévia de uma pesquisa que tem como objetivo compreender o significado de ter anemia falciforme para crianças de 3 a 12 anos de idade, a partir de uma investigação qualitativa ancorada no Interacionismo Simbólico como referencial teórico, e na Teoria Fundamentada nos Dados como referencial metodológico. Os dados são coletados por meio de entrevista com as crianças, mediada por uma sessão de Brinquedo Terapêutico. A análise preliminar dos dados permitiu compreender que ter anemia falciforme é uma vivência triste para a criança, porque, além de ser permeada pela dor, ela se percebe impotente frente ao sofrimento, reconhece seus sintomas, compreende a necessidade do tratamento, considerando-o apenas paliativo; que a família é um importante suporte, e o hospital, uma referência.Nota previa de una investigación que tiene como objetivo comprender el significado de tener anemia falciforme para niños de 3 a 12 años. Investigación cualitativa anclada en el Interaccionismo Simbólico como referencia teórica y en la Teoría Fundamentada en los datos como referencia metodológica. Los datos son recolectados por medio de entrevista con los niños, mediada por una sesión de Juguete Terapéutico. El análisis preliminar de los datos permitió comprender que tener anemia falciforme es una vivencia triste para el niño, porque además de ser atravesada por el dolor, ella se percibe impotente frente al sufrimiento, reconoce los síntomas, comprende la necesidad de tratamiento, considerándolo solamente paliativo, que la familia es un importante soporte y el hospital una referencia.Advance notice of a study aimed at understanding the significance of having sickle cell anemia for children 3 to 12 years old. It is a qualitative research grounded in Symbolic Interactionism as a theoretical perspective, and in Grounded Theory as a research method. The data have been collected through interview with the children by using therapeutic play

  8. Mechanism of testosterone deficiency in the transgenic sickle cell mouse.

    Science.gov (United States)

    Musicki, Biljana; Zhang, Yuxi; Chen, Haolin; Brown, Terry R; Zirkin, Barry R; Burnett, Arthur L

    2015-01-01

    Testosterone deficiency is associated with sickle cell disease (SCD), but its underlying mechanism is not known. We investigated the possible occurrence and mechanism of testosterone deficiency in a mouse model of human SCD. Transgenic sickle male mice (Sickle) exhibited decreased serum and intratesticular testosterone and increased luteinizing hormone (LH) levels compared with wild type (WT) mice, indicating primary hypogonadism in Sickle mice. LH-, dbcAMP-, and pregnenolone- (but not 22-hydroxycholesterol)- stimulated testosterone production by Leydig cells isolated from the Sickle mouse testis was decreased compared to that of WT mice, implying defective Leydig cell steroidogenesis. There also was reduced protein expression of steroidogenic acute regulatory protein (STAR), but not cholesterol side-chain cleavage enzyme (P450scc), in the Sickle mouse testis. These data suggest that the capacity of P450scc to support testosterone production may be limited by the supply of cholesterol to the mitochondria in Sickle mice. The sickle mouse testis exhibited upregulated NADPH oxidase subunit gp91phox and increased oxidative stress, measured as 4-hydroxy-2-nonenal, and unchanged protein expression of an antioxidant glutathione peroxidase-1. Mice heterozygous for the human sickle globin (Hemi) exhibited intermediate hypogonadal changes between those of WT and Sickle mice. These results demonstrate that testosterone deficiency occurs in Sickle mice, mimicking the human condition. The defects in the Leydig cell steroidogenic pathway in Sickle mice, mainly due to reduced availability of cholesterol for testosterone production, may be related to NADPH oxidase-derived oxidative stress. Our findings suggest that targeting testicular oxidative stress or steroidogenesis mechanisms in SCD offers a potential treatment for improving phenotypic changes associated with testosterone deficiency in this disease.

  9. Mechanism of testosterone deficiency in the transgenic sickle cell mouse.

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    Biljana Musicki

    Full Text Available Testosterone deficiency is associated with sickle cell disease (SCD, but its underlying mechanism is not known. We investigated the possible occurrence and mechanism of testosterone deficiency in a mouse model of human SCD. Transgenic sickle male mice (Sickle exhibited decreased serum and intratesticular testosterone and increased luteinizing hormone (LH levels compared with wild type (WT mice, indicating primary hypogonadism in Sickle mice. LH-, dbcAMP-, and pregnenolone- (but not 22-hydroxycholesterol- stimulated testosterone production by Leydig cells isolated from the Sickle mouse testis was decreased compared to that of WT mice, implying defective Leydig cell steroidogenesis. There also was reduced protein expression of steroidogenic acute regulatory protein (STAR, but not cholesterol side-chain cleavage enzyme (P450scc, in the Sickle mouse testis. These data suggest that the capacity of P450scc to support testosterone production may be limited by the supply of cholesterol to the mitochondria in Sickle mice. The sickle mouse testis exhibited upregulated NADPH oxidase subunit gp91phox and increased oxidative stress, measured as 4-hydroxy-2-nonenal, and unchanged protein expression of an antioxidant glutathione peroxidase-1. Mice heterozygous for the human sickle globin (Hemi exhibited intermediate hypogonadal changes between those of WT and Sickle mice. These results demonstrate that testosterone deficiency occurs in Sickle mice, mimicking the human condition. The defects in the Leydig cell steroidogenic pathway in Sickle mice, mainly due to reduced availability of cholesterol for testosterone production, may be related to NADPH oxidase-derived oxidative stress. Our findings suggest that targeting testicular oxidative stress or steroidogenesis mechanisms in SCD offers a potential treatment for improving phenotypic changes associated with testosterone deficiency in this disease.

  10. Sickle Cell Disease: A Brief Update.

    Science.gov (United States)

    Azar, Sharl; Wong, Trisha E

    2017-03-01

    Sickle cell disease (SCD) is an inherited monogenic disease characterized by misshapen red blood cells that causes vaso-occlusive disease, vasculopathy, and systemic inflammation. Approximately 300,000 infants are born per year with SCD globally. Acute, chronic, and acute-on-chronic complications contribute to end-organ damage and adversely affect quantity and quality of life. Hematopoietic stem cell transplantation is the only cure available today, but is not feasible for the vast majority of people suffering from SCD. Fortunately, new therapies are in late clinical trials and more are in the pipeline, offering hope for this unfortunate disease, which has increasing global burden.

  11. Patients with sickle cell disease taking hydroxyurea in the Hemocentro Regional de Montes Claros

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    Fernanda Kelle de Souza Santos

    2011-01-01

    Full Text Available BACKGROUND: The development of therapies for sickle cell disease has received special attention, particularly those that reduce the polymerization of hemoglobin S. Hydroxyurea is a commonly used medication because it has the ability to raise levels of fetal hemoglobin, decrease the frequency of vaso-occlusive episodes and thus improve the clinical course of sickle cell disease patients. OBJECTIVE: To study hematological data and the clinical profile of sickle cell disease patients taking hydroxyurea in a regional blood center. METHODS: From the charts of 20 patients with sickle cell anemia, the clinical outcomes and a number of hematological variables were analyzed before and during treatment with hydroxyurea. RESULTS: The patients' ages ranged from 6 to 41 years old, most were dark skinned and there was a predominance of women. The main symptom that defined whether patients were prescribed hydroxyurea was painful crises followed by hospitalizations. During treatment with hydroxyurea there were significant increases in hemoglobin, fetal hemoglobin, mean corpuscular volume and mean corpuscular hemoglobin. The reticulocyte and white blood cell counts dropped significantly with treatment. A positive correlation was found between fetal hemoglobin and mean corpuscular volume before and during treatment. Additionally, a correlation was found between the white blood cell and reticulocyte counts before treatment with hydroxyurea. CONCLUSION: Most patients showed improvements with treatment as demonstrated by increases in hemoglobin, fetal hemoglobin and mean corpuscular volume, as well as by reductions in the reticulocyte and white blood cell counts. Clinically, more than 50% of patients had a significant reduction of events.

  12. Vasculopathy and pulmonary hypertension in sickle cell disease.

    Science.gov (United States)

    Potoka, Karin P; Gladwin, Mark T

    2015-02-15

    Sickle cell disease (SCD) is an autosomal recessive disorder in the gene encoding the β-chain of hemoglobin. Deoxygenation causes the mutant hemoglobin S to polymerize, resulting in rigid, adherent red blood cells that are entrapped in the microcirculation and hemolyze. Cardinal features include severe painful crises and episodic acute lung injury, called acute chest syndrome. This population, with age, develops chronic organ injury, such as chronic kidney disease and pulmonary hypertension. A major risk factor for developing chronic organ injury is hemolytic anemia, which releases red blood cell contents into the circulation. Cell free plasma hemoglobin, heme, and arginase 1 disrupt endothelial function, drive oxidative and inflammatory stress, and have recently been referred to as erythrocyte damage-associated molecular pattern molecules (eDAMPs). Studies suggest that in addition to effects of cell free plasma hemoglobin on scavenging nitric oxide (NO) and generating reactive oxygen species (ROS), heme released from plasma hemoglobin can bind to the toll-like receptor 4 to activate the innate immune system. Persistent intravascular hemolysis over decades leads to chronic vasculopathy, with ∼10% of patients developing pulmonary hypertension. Progressive obstruction of small pulmonary arterioles, increase in pulmonary vascular resistance, decreased cardiac output, and eventual right heart failure causes death in many patients with this complication. This review provides an overview of the pathobiology of hemolysis-mediated endothelial dysfunction and eDAMPs and a summary of our present understanding of diagnosis and management of pulmonary hypertension in sickle cell disease, including a review of recent American Thoracic Society (ATS) consensus guidelines for risk stratification and management.

  13. Beta-globin gene cluster haplotypes in sickle cell patients from southwest Iran.

    Science.gov (United States)

    Rahimi, Z; Karimi, M; Haghshenass, M; Merat, A

    2003-11-01

    Sickle cell anemia in Iran is accompanied by a high level of HbF and mild clinical presentation. Here we report haplotypes of the beta gene cluster found in 81 randomly selected sickle cell patients, including 47 sickle cell anemia (SS), 17 sickle cell trait (AS), and 17 sickle/thalassemia (S/thal) from southwest Iran. We found all five common typical haplotypes as well as five atypical haplotypes in our patients. Except for four patients with homozygous Benin haplotype, none of the other African typical haplotypes were found in a homozygous state. Arab-Indian was found to be the most prevalent haplotype in the study population. This haplotype accounted for 51.1% as the homozygous form in SS patients, where 69.1% of chromosomes in these patients had the Arab-Indian haplotype. Bantu A2 was the second most prevalent haplotype among all patients. The mean %HbF in SS patients was 27.83 and in the homozygous Arab-Indian haplotype it was still higher (30.40%), while in AS patients the %HbF was only 1.20. The high %Ggamma chain (71.81) in the Arab-Indian homozygous haplotype was concomitant with the presence of an Xmn I site in both chromosomes. The presence of the Arab-Indian haplotype as the predominant haplotype might be suggestive of a gene flow to/from Saudi Arabia or India. More haplotype investigations of a normal population can clarify the high incidence of Bantu A2 haplotype in our population.

  14. Patient-specific modeling and analysis of dynamic behavior of individual sickle red blood cells under hypoxic conditions

    Science.gov (United States)

    Li, Xuejin; Du, E.; Li, Zhen; Tang, Yu-Hang; Lu, Lu; Dao, Ming; Karniadakis, George

    2015-11-01

    Sickle cell anemia is an inherited blood disorder exhibiting heterogeneous morphology and abnormal dynamics under hypoxic conditions. We developed a time-dependent cell model that is able to simulate the dynamic processes of repeated sickling and unsickling of red blood cells (RBCs) under physiological conditions. By using the kinetic cell model with parameters derived from patient-specific data, we present a mesoscopic computational study of the dynamic behavior of individual sickle RBCs flowing in a microfluidic channel with multiple microgates. We investigate how individual sickle RBCs behave differently from healthy ones in channel flow, and analyze the alteration of cellular behavior and response to single-cell capillary obstruction induced by cell rheologic rigidification and morphological change due to cell sickling under hypoxic conditions. We also simulate the flow dynamics of sickle RBCs treated with hydroxyurea (HU) and quantify the relative enhancement of hemodynamic performance of HU. This work was supported by the National Institutes of Health (NIH) Grant U01HL114476.

  15. New concepts in assessing sickle cell disease severity

    NARCIS (Netherlands)

    Schnog, JJB; Lard, LR; Rojer, RA; Van der Dijs, FPL; Muskiet, FAJ; Duits, AJ

    1998-01-01

    Vasoocclusion leads to pain, chronic organ damage, and a decreased life expectancy in patients with sickle cell disease. Therapeutic options for sickle cell disease have usually been evaluated according to their capacity for reducing the frequency of vasoocclusive crises requiring clinical attention

  16. Leg ulcers in sickle cell patients: management challenges

    Directory of Open Access Journals (Sweden)

    El Khatib AM

    2016-11-01

    Full Text Available Arij M El Khatib,1 Shady N Hayek2 1Division of Plastic and Reconstructive Surgery, Department of Surgery, American University of Beirut Medical Center (AUBMC, 2Private Practice, Cosmetic Surgery Center, Beirut, Lebanon Abstract: Sickle cell disease is an autosomal recessive hemoglobinopathy caused by an amino acid substitution from glutamic acid to valine in the beta hemoglobin chain. One of the common symptoms occurring in sickle cell patients are leg ulcers, which are notoriously painful, difficult to treat, and frequently recurrent. These ulcers pose a therapeutic challenge with multiple modalities proposed for treatment, but with scarce evidence of efficacy of any single modality. Ulcer prevention, rigorous wound care, pain control, and surgery are the current mainstays of sickle cell leg ulcer treatment. Keywords: sickle cell leg ulcer, leg wound, sickle cell disease 

  17. Pain measurement as part of primary healthcare of adult patients with sickle cell disease

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    Andreza Aparecida Felix Signorelli

    2013-01-01

    Full Text Available OBJECTIVE: The aim of this exploratory, cross-sectional study was to evaluate pain in sickle cell disease patients and aspects related to primary healthcare. METHODS: Data were obtained through home interviews. The assessment instruments (body diagram, Numerical Pain Scale, McGill Pain Questionnaire collected information on the underlying disease and on pain. Data were analyzed using the Statistical Package for Social Sciences program for Windows. Associations between the subgroups of sickle cell disease patients (hemoglobin SS, hemoglobin SC, sickle β-thalassemia and others and pain were analyzed using contingency tables and non-parametric tests of association (classic chi-square, Fisher's and Kruskal-Wallis with a level of 5% (p-value < 0.05 being set for the rejection of the null hypothesis. RESULTS: Forty-seven over 18-year-old patients with sickle cell disease were evaluated. Most were black (78.7% and female (59.6% and the mean age was 30.1 years. The average number of bouts of pain annually was 7.02; pain was predominantly reported by individuals with sickle cell anemia (hemoglobin SS. The intensity of pain (Numeric Pain Scale was 5.5 and the quantitative index (McGill was 35.9. This study also shows that patients presented a high frequency of moderately painful crises in their own homes. CONCLUSION: According to these facts, it is essential that pain related to sickle cell disease is properly identified, quantified, characterized and treated at the three levels of healthcare. In primary healthcare, accurate measurement of pain combined with better care may decrease acute painful episodes and consequently minimize tissue damage, thus improving the patient's overall health.

  18. Review Of Consultations For Children With Sickle Cell Disease CHR Kenitra Morocco

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    Mouden Samira

    2015-01-01

    Full Text Available Abstract Also called sickle cell anemia Sickle cell anemia is a genetic disease of autosomal recessive linked to abnormal structure of the hemoglobin which leads to the formation of hemoglobin S HbS. The descriptive and cross that we conducted at the pediatric ward of the regional hospital Gharb study Chrarda benihessen Knitra we were enjoying a work force of 164 children with sickle cell disease over a period of twenty four months from June 2010 to June 2012 . On average seven to eight 7-8 new cases per year. The majority of these children admitted to the exhibit acute complications that are typically associated either to a chronic hemolytic anemia vaso -occlusive crisis acute chest syndrome or severe infections which aims to identify factors likely to play a role in the occurrence of the sickle cell crises. This can cause severe functional consequences with renal lung bone etc.. In order to understand the problems and difficulties faced by sickle cell and their families in their daily lives we have established a protocol form of a questionnaire exploring various aspects related to eating habits and lifestyle of these children. and their families as well as family socioeconomic status and the context of environmental life The size of the control group study consists of 60 children aged 7-14 years. Clinical and analytical information is collected from records medical records and doctors during consultations of these patients. The results show that 71 of these children are from rural areas against 20 of children of urban origin while 9 live in suburban area however. The majority of parents have irregular income low educational attainment. 68 of these children use septic false in parallel they use well water in consumption and domestic use. Clinical examination and blood cell abnormalities formula revealed prevalence of 76 for fever cases painful crises severe recurrent and unpredictable also observed as well as acute chest syndrome pneumonia or

  19. Assistência de enfermagem a portadores de anemia falciforme, à luz do referencial de Roy Atención de enfermería a portadores de anemia falciforme apoyada en el modelo conceptual de Roy Nursing care to patiens with sickle cell disease in the light of Roy's model

    Directory of Open Access Journals (Sweden)

    Maria Lúcia Ivo

    2003-03-01

    ón; cuanto a la interdependencia, la madre fue referida como el otro significante más frecuente. Se identificó la oclusión de vasos sanguíneos como estímulo causador de comportamientos inefectivos y se verificó que la función fisiológica afectada altera otros modos de adaptación.This study aimed at applying the concepts from Roy's Adaptation Model in order to identify the behaviors (adaptive and ineffective of patients with sickle cell disease as well as the focal, contextual and residual stimuli that are responsible for such behaviors. Data collection was conducted in the Hemoglobinopathy Outpatient Unit of the University Hospital at the University of São Paulo at Ribeirão Preto School of Medicine. Nine subjects (8 females and 1 male were investigated. With respect to the physiological aspect, the ineffective behavior of low oxygenation and its outcomes (compromised physical development, sexual retardation hemolysis jaundice, respiratory alterations were evidenced. Regarding the psychosocial aspects, self-image showed a reduction in self-esteem as the most distinguished behavior; role performance was characterized by occupation change. Considering interdependence, the mother was reported as the most frequent significant "other". Vaso-occlusion was predominantly identified as the causing stimulus for ineffective behaviors. It was verified that the affected physiological function alters other adaptive aspects.

  20. The scope of clinical morbidity in sickle cell trait

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    Azza A.G. Tantawy

    2014-10-01

    Full Text Available Sickle cell trait (SCT, the heterozygous state of the sickle hemoglobin beta globin gene (HbAS is carried by as many as 100 million individuals including up to 25% of the population in some regions of the World. Sickle cell trait is the best-characterized genetic polymorphism known to protect against falciparum malaria. Although SCT was initially considered as a benign condition, data are accumulating of serious morbidities in SCT individuals including increased incidence of hematuria, renal papillary necrosis, renal failure and malignancy, thromboembolic disorders, splenic infarction as a high altitude complication, and exercise-related rhabdomyolysis and sudden death. Despite these associations, the average life span of individuals with sickle cell trait is similar to that of the general population. Nonetheless, given the large number of people with sickle cell trait, it is important that physicians be aware of these associations. The aim of this article is to review publications reporting and discussing morbidities in SCT individuals.

  1. Mast cell activation contributes to sickle cell pathobiology and pain in mice

    OpenAIRE

    2013-01-01

    Inhibition of mast cells with cromolyn or imatinib results in reduced systemic inflammation and neurogenic inflammation in sickle mice.Pharmacological inhibition or genetic depletion of mast cells in sickle mice ameliorates chronic and hypoxia/reoxygenation-induced pain.

  2. Nonblack patients with sickle cell disease have African. beta. sup s gene cluster haplotypes

    Energy Technology Data Exchange (ETDEWEB)

    Rogers, Z.R.; Powars, D.R.; Williams, W.D. (Univ. of Southern California School of Medicine, Los Angeles (USA)); Kinney, T.R. (Duke Univ., Durham, NC (USA)); Schroeder, W.A. (California Institute of Technology, Pasadena (USA))

    1989-05-26

    Of 18 nonblack patients with sickle cell disease, 14 had sickle cell anemia, 2 had hemoglobin SC disease, and 2 had hemoglobin S-{beta}{sup o}-thalassemia. The {beta}{sup s} gene cluster haplotypes that were determined in 7 patients were of African origin and were identified as Central African Republic, Central African Republic minor II, Benin, and Senegal. The haplotype Central African Republic minor II was present on the {beta}{sup o}-thalassemia chromosome in 2 patients. None of 10 patients whose {alpha}-gene status was determined had {alpha}-thalassemia-2. These data strongly support the concept that the {beta}{sup s} gene on chromosome 11 of these individuals is of African origin and that the {alpha}-gene locus on chromosome 16 is of white or native American origin. The clinical severity of the disease in these nonblack patients is appropriate to their haplotype without {alpha}-thalassemia-2 and is comparable with that of black patients. All persons with congenital hemolytic anemia should be examined for the presence of sickle cell disease regardless of physical appearance or ethnic background.

  3. Genetic determinants and stroke in children with sickle cell disease,

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    Daniela O.W. Rodrigues

    Full Text Available Abstract Objective: To verify genetic determinants associated with stroke in children with sickle cell disease (SCD. Methods: Prospective cohort with 110 children submitted to neonatal screening by the Neonatal Screening Program, between 1998 and 2007, with SCD diagnosis, followed at a regional reference public service for hemoglobinopathies. The analyzed variables were type of hemoglobinopathy, gender, coexistence with alpha thalassemia (α-thal, haplotypes of the beta globin chain cluster, and stroke. The final analysis was conducted with 66 children with sickle cell anemia (SCA, using the chi-squared test in the program SPSS® version 14.0. Results: Among children with SCD, 60% had SCA. The prevalence of coexistence with α-thal was 30.3% and the Bantu haplotype (CAR was identified in 89.2%. The incidence of stroke was significantly higher in those with SCA (27.3% vs. 2.3%; p = 0.001 and males (24.1% vs. 9.6%; p = 0.044. The presence of α-thal (p = 0.196, the CAR haplotype (p = 0.543, and socioeconomic factors were not statistically significant in association with the occurrence of stroke. Conclusion: There is a high incidence of stroke in male children and in children with SCA. Coexistence with α-thal and haplotypes of the beta globin chain cluster did not show any significant association with stroke. The heterogeneity between previously evaluated populations, the non-reproducibility between studies, and the need to identify factors associated with stroke in patients with SCA indicate the necessity of conducting further research to demonstrate the relevance of genetic factors in stroke related to SCD.

  4. Perfluorocarbon emulsion therapy attenuates pneumococcal infection in sickle cell mice.

    Science.gov (United States)

    Helmi, Nawal; Andrew, Peter W; Pandya, Hitesh C

    2015-05-15

    Impaired immunity and tissue hypoxia-ischemia are strongly linked with Streptococcus pneumoniae pathogenesis in patients with sickle cell anemia. Perfluorocarbon emulsions (PFCEs) have high O2-dissolving capacity and can alleviate tissue hypoxia. Here, we evaluate the effects of intravenous PFCE therapy in transgenic sickle cell (HbSS) mice infected with S. pneumoniae. HbSS and C57BL/6 (control) mice intravenously infected with S. pneumoniae were treated intravenously with PFCE or phosphate-buffered saline (PBS) and then managed in either air/O2 (FiO2 proportion, 50%; hereafter referred to as the PFCE-O2 and PBS-O2 groups) or air only (hereafter, the PFCE-air and PBS-air groups) gas mixtures. Lungs were processed for leukocyte and bacterial counts and cytokine measurements. HbSS mice developed severe pneumococcal infection significantly faster than C57BL/6 mice (Kaplan-Maier analysis, P < .05). PFCE-O2-treated HbSS mice had significantly better survival at 72 hours than HBSS mice treated with PFCE-air, PBS-O2, or PBS-air (P < .05). PFCE-O2-treated HbSS mice also had significantly lower pulmonary leukocyte counts, lower interleukin 1β and interferon γ levels, and higher interleukin 10 levels than PFCE-air-treated HbSS mice. Clearance of S. pneumoniae from lungs of HbSS mice or C57BL/6 mice was not altered by PFCE treatment. Improved survival of PFCE-O₂-treated HbSS mice infected with S. pneumoniae is associated with altered pulmonary inflammation but not enhanced bacterial clearance.

  5. Hydrodynamics of Hemostasis in Sickle-Cell Disease

    Science.gov (United States)

    Cohen, S. I. A.; Mahadevan, L.

    2013-03-01

    Vaso-occlusion, the stoppage of blood flow in sickle-cell disease, is a complex dynamical process spanning multiple time and length scales. Motivated by recent ex vivo microfluidic measurements of hemostasis using blood from sickle-cell patients, we develop a multiphase model that couples the kinetics and hydrodynamics of a flowing suspension of normal and sickled cells in a fluid. We use the model to derive expressions for the cell velocities and concentrations that quantify the hydrodynamics of hemostasis, and provide simple criteria as well as a phase diagram for occlusion, consistent with our simulations and earlier observations.

  6. Health-related quality of life in sickle cell disease.

    Science.gov (United States)

    Panepinto, Julie A

    2008-07-01

    Advances in drug therapy, hematopoietic stem cell transplantation, and technology have improved the morbidity and survival for those with sickle cell disease. The effect of this modern therapy on the health-related quality of life (HRQL) of those with sickle cell disease is not known. HRQL provides an assessment of how an illness, its complications, and its treatment are experienced by a patient. This review will examine prior work in HRQL in sickle cell disease and the rationale for utilizing HRQL as an outcome to measure impact of treatment. In addition, issues to consider when reporting HRQL will be presented.

  7. A STUDY OF SICKLE CELL TRAIT COMPLICATIONS IN PREGNANCY & DELIVERY AT TERTIARY LEVEL CENTER

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    Surekha Narayan

    2015-02-01

    Full Text Available OBJECTIVE : To study the outcome of pregnancy in women with sickle cell trait (SCT and compared with normal hemoglobin. METHODS : This is a comparative study consisted of 75 pregnant women with SCT who were attending the antenatal clinic & admitted in obs tetric ward were followed till 7 th day after delivery. The control group consisted of 150 age and gravidity matched pregnant women with normal hemoglobin recruited from same hospital. RESULTS: Statistically significant complications during pregnancy were p reeclampsia; UTI , eclampsia and severe anemia were observed. Incidence of adverse fetal outcome in terms of stillbirth and intrauterine death were significantly higher in the study group than control group. CONCLUSION: At tertiary level hospital which is a lso a regional centre for sickle cell hemoglobinopathy , still SCT was a important contributor for adverse maternal and fetal outcome. Hence vigilant observation & care is needed for SCT women.

  8. Tibial and fibular angles in homozygous sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Akamaguna, A.I.; Odita, J.C.; Ugbodaga, C.I.; Okafor, L.A.

    1986-05-01

    Measurements of the tibial and fibular angles made on ankle radiographs of 34 patients with sickle cell disease were compared with those of 36 normal Nigerians. Widening of the fibular angle, which is an indication of tibiotalar slant, was demonstrated in about 79% of sickle cell disease patients. By using fibular angle measurements as an objective method of assessing subtle tibiotalar slant, it is concluded that the incidence of this deformity is much higher among sickle cell disease patients than previously reported. The mean values of tibial and fibular angles in normal Nigerians are higher than has been reported amongst Caucasians.

  9. Sensorineural Hearing Affection In Sickle Cell Disease Patients With Chronic Renal Failure Under Dialysis

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    Saeed Abdelwhab Saeed MD*, Magdy M El Sharkawy

    2002-09-01

    Full Text Available Objective: to study the problem of hearing loss in patients of chronic renal failure on regular haemodialysis and The factors which affect it. And to study the effect of sickle cell disease on hearing loss. we studied hearing loss in dialysis patients, sickle cell disease patients and patients of sickle cell disease with chronic renal failure under dialysis compared to normal control subjects. Design: !"",include sickle cell disease patients with chronic renal fa"# $%& ' ", i ,nclude ( # #"# $%&'", , ,( #&'", i 9nclude the normal *+&*+' All groups are subjected to full history, thorough clinical examination including neurological and ENT examination, investigations includes Hb, s. creatinine, s.albumen, s.calcium and calculation of kt/v for dialysis patients. Full audiological assessment, using #,-GSI audiometer was done for all groups with special concentration at frequency of - .Results: hearing loss was found in patients with chronic renal failure more than normal control. Patient with sickle cell disease have hearing disorders significantly higher than $/%- .% 0( # #cell disease have significantly. Marked degree of SNHL than those with SCD only. Hearing loss in patients with 12( # * 3 &4 !4! '#"#"patients with chronic renal failure with or without SCD correlate with duration of dialysis , presence of peripheral neuropathy, s. calcium level, efficiency of dialysis marked by kt/v. Conclusion and recommendation: hearing disorder is common in patients with chronic renal failure under regular haemodialysis and it increase with duration of dialysis it should be suspected if there is Peripheral neuropathy. It can be reduced with efficient dialysis, correction of anemia, adjustment of calcium level. Patients with SCD suffer also some degree of hearing loss especially at higher frequency and this degree of hearing loss

  10. Metabolomic analysis of normal and sickle cell erythrocytes.

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    Darghouth, D; Koehl, B; Junot, C; Roméo, P-H

    2010-09-01

    Metabolic signatures of specialized circulating hematopoietic cells in physiological or human hematological diseases start to be described. We use a simple and highly reproductive extraction method of erythrocytes metabolites coupled with a liquid chromatography-mass spectrometry based metabolites profiling method to determine metabolomes of normal and sickle cell erythrocytes. Sickle cell erythrocytes and normal erythrocytes metabolomes display major differences in glycolysis, in glutathione, in ascorbate metabolisms and in metabolites associated to membranes turnover. In addition, the amounts of metabolites derived from urea cycle and NO metabolism that partly take place within erythrocyte were different between normal and sickle cell erythrocytes. These results show that metabolic profiling of red blood cell diseases can now be determined and might indicate new biomarkers that can be used for the follow-up of sickle cell patients.

  11. Information Exploration System for Sickle Cell Disease and Repurposing of Hydroxyfasudil

    KAUST Repository

    Essack, Magbubah

    2013-06-10

    Background:Sickle cell disease (SCD) is a fatal monogenic disorder with no effective cure and thus high rates of morbidity and sequelae. Efforts toward discovery of disease modifying drugs and curative strategies can be augmented by leveraging the plethora of information contained in available biomedical literature. To facilitate research in this direction we have developed a resource, Dragon Exploration System for Sickle Cell Disease (DESSCD) (http://cbrc.kaust.edu.sa/desscd/) that aims to promote the easy exploration of SCD-related data.Description:The Dragon Exploration System (DES), developed based on text mining and complemented by data mining, processed 419,612 MEDLINE abstracts retrieved from a PubMed query using SCD-related keywords. The processed SCD-related data has been made available via the DESSCD web query interface that enables: a/information retrieval using specified concepts, keywords and phrases, and b/the generation of inferred association networks and hypotheses. The usefulness of the system is demonstrated by: a/reproducing a known scientific fact, the "Sickle_Cell_Anemia-Hydroxyurea" association, and b/generating novel and plausible "Sickle_Cell_Anemia-Hydroxyfasudil" hypothesis. A PCT patent (PCT/US12/55042) has been filed for the latter drug repurposing for SCD treatment.Conclusion:We developed the DESSCD resource dedicated to exploration of text-mined and data-mined information about SCD. No similar SCD-related resource exists. Thus, we anticipate that DESSCD will serve as a valuable tool for physicians and researchers interested in SCD. © 2013 Essack et al.

  12. Asthma Management in Sickle Cell Disease

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    Esteban Gomez

    2013-01-01

    Full Text Available Asthma is a common comorbid factor in sickle cell disease (SCD. However, the incidence of asthma in SCD is much higher than expected compared to rates in the general population. Whether “asthma” in SCD is purely related to genetic and environmental factors or rather is the consequence of the underlying hemolytic and inflammatory state is a topic of recent debate. Regardless of the etiology, hypoxemia induced by bronchoconstriction and inflammation associated with asthma exacerbations will contribute to a cycle of sickling and subsequent complications of SCD. Recent studies confirm that asthma predisposes to complications of SCD such as pain crises, acute chest syndrome, and stroke and is associated with increased mortality. Early recognition and aggressive standard of care management of asthma may prevent serious pulmonary complications and reduce mortality. However, data regarding the management of asthma in SCD is very limited. Clinical trials are needed to evaluate the effectiveness of current asthma therapy in patients with SCD and coincident asthma, while mechanistic studies are needed to delineate the underlying pathophysiology.

  13. Sickle cell protection from malaria: a review

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    Sandro Eridani

    2011-11-01

    Full Text Available A linkage between presence of Sickle Haemoglobin (HbS and protection from malaria infection and clinical manifestations in certain areas was suspected from early observations and progressively elucidated by more recent studies. Research has confirmed the abovementioned connection, but also clarified how such protection may be abolished by coexistence of sickle cell trait (HbS trait and alpha thalassemia, which may explain the relatively low incidence of HbS trait in the Mediterranean. The mechanisms of such protective effect are now being investigated: factors of genetic, molecular and immunological nature are prominent. As for genetic factors attention is given to the role of the red blood cell (RBC membrane complement regulatory proteins as polymorphisms of these components seem to be associated with resistance to severe malaria; genetic ligands like the Duffy group blood antigen, necessary for erythrocytic invasion, and human protein CD36, a major receptor for P. falciparum-infected RBC‘s, are also under scrutiny: attention is focused also on plasmodium erythrocyte-binding antigens, which bind to RBC surface components. Genome-wide linkage and association studies are now carried out too, in order to identify genes associated with malaria resistance. Only a minor role is attributed to intravascular sickling, phagocytosis and haemolysis, while specific molecular mechanisms are the object of intensive research: among these a decisive role is played by a biochemical sequence, involving activation of haeme oxygenase (HMO-1, whose effect appears mediated by carbon monoxide (CO. A central role in protection from malaria is also played by immunological factors, which may stimulate antibody production to plasmodium antigens in the early years of life; the role of agents like pathogenic CD8 T-cells has been suggested while the effects of molecular actions on the immunity mechanism are presently investigated. It thus appears that protection from

  14. Orbital Infarction due to Sickle Cell Disease without Orbital Pain

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    Cameron L. McBride

    2016-01-01

    Full Text Available Sickle cell disease is a hemoglobinopathy that results in paroxysmal arteriolar occlusion and tissue infarction that can manifest in a plurality of tissues. Rarely, these infarcted crises manifest in the bony orbit. Orbital infarction usually presents with acute onset of periorbital tenderness, swelling, erythema, and pain. Soft tissue swelling can result in proptosis and attenuation of extraocular movements. Expedient diagnosis of sickle cell orbital infarction is crucial because this is a potentially sight-threatening entity. Diagnosis can be delayed since the presentation has physical and radiographic findings mimicking various infectious and traumatic processes. We describe a patient who presented with sickle cell orbital crisis without pain. This case highlights the importance of maintaining a high index of suspicion in patients with known sickle cell disease or of African descent born outside the United States in a region where screening for hemoglobinopathy is not routine, even when the presentation is not classic.

  15. Amelioration of painful crises in sickle cell disease by venesections.

    Science.gov (United States)

    Rombos, Yannis; Tzanetea, Revekka; Kalotychou, Vassiliki; Konstantopoulos, Kostas; Simitzis, Spyros; Tassiopoulos, Thomas; Aessopos, Athanasios; Fessas, Phaedon

    2002-01-01

    Sickle cell disease patients who acquire iron deficiency may experience a degree of amelioration from painful crises in terms of frequency, severity, and duration. This observation prompted us to identify the potential utility of iron load reduction in the management of this disease. Thirteen sickle cell patients not ameliorated by conventional treatment entered a weekly venesection protocol. Hematological values and painful crises of all degrees of severity were recorded and compared to those of the last 12 months before venesection for each case separately ("historical controls"). A decrease was noted in the frequency and intensity of several types of painful crises. Reduction of iron load by venesection seems to be a simple, safe, side-effect-free, and efficient way of preventing and ameliorating to a large extent painful crises in sickle cell disease. The biological effects of venesection on other parameters of sickle cell disease remain to be determined.

  16. Correlation of low levels of nitrite and high levels of fetal hemoglobin in patients with sickle cell disease at baseline

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    Darcielle Bruna Dias Elias

    2012-01-01

    Full Text Available BACKGROUND: Sickle cell disease is a hemoglobinopathy characterized by hemolytic anemia, increased susceptibility to infections and recurrent vaso-occlusive crises that reduces the quality of life of sufferers. OBJECTIVE: To evaluate the correlation of the levels of lactate dehydrogenase, malonaldehyde and nitrite to fetal hemoglobin in patients with sickle cell disease not under treatment with hydroxyurea in outpatients at a university hospital in Fortaleza, Ceará, Brazil. METHODS: Forty-four patients diagnosed with sickle cell disease were enrolled at baseline. Diagnosis was confirmed by evaluating the beta globin gene using polymerase chain reaction-restriction fragment length polymorphism. The concentration of fetal hemoglobin was obtained by high-performance liquid chromatography. Serum levels of nitrite, malonaldehyde and lactate dehydrogenase were measured by biochemical methods. RESULTS: Significantly higher levels of lactate dehydrogenase, nitrite and malonaldehyde were observed in patients with sickle cell disease compared to a control group. The study of the correlation between fetal hemoglobin levels and these variables showed a negative correlation with nitrite levels. No correlation was found between fetal hemoglobin and malonaldehyde or lactate dehydrogenase. When the study population was stratified according to fetal hemoglobin levels, a decrease in the levels of nitrite was observed with higher levels of fetal hemoglobin (p-value = 0.0415. CONCLUSION: The results show that, similar to fetal hemoglobin levels, the concentration of nitrite can predict the clinical course of the disease, but should not be used alone as a modulator of prognosis in patients with sickle cell disease.

  17. Nocturnal enuresis in sickle cell disease.

    Science.gov (United States)

    Wolf, Rachel B; Kassim, Adetola A; Goodpaster, Robert L; DeBaun, Michael R

    2014-04-01

    Nocturnal enuresis is a prevalent and challenging problem in children and young adults with sickle cell disease (SCD). Limited progress has been made in elucidating etiology and pathophysiology of nocturnal enuresis in individuals with SCD. Among adults with SCD ages 18-20 years, approximately 9% report nocturnal enuresis. Nocturnal enuresis contributes to decreased health related quality of life in people with SCD, resulting in low self-esteem and sometimes social isolation. Postulated non-mutually exclusive causes of nocturnal enuresis in individuals with SCD include hyposthenuria leading to nocturnal polyuria, decreased bladder capacity or nocturnal bladder overactivity, increased arousal thresholds, and sleep disordered breathing. No evidence-based therapy for nocturnal enuresis in SCD exists. This review is focused on describing the natural history, postulated causes and a rational approach to the evaluation and management of nocturnal enuresis in children and adults with SCD.

  18. Pregnancy outcomes in sickle cell disease: a retrospective cohort study from two tertiary centres in the UK

    OpenAIRE

    Chase, A. R.; Sohal, M; Howard, J.; Laher, R.; McCarthy, A; Layton, D. M.; Oteng-Ntim, E.

    2010-01-01

    The objective of this retrospective cohort study from two tertiary centres in the UK was to describe the pregnancy outcomes of women with sickle cell disease (SCD) who booked at these centres between 2004 and 2008, and to compare this with historical data. The study population comprised 122 singleton pregnancies in women with SCD: homozygous sickle cell disease 64, sickle cell haemoglobin C disease 45, sickle b plus thalassaemia 11, sickle cell haemoglobin E disease 1 and sickle cell delta di...

  19. HLA class II haplotypes distinctly associated with vaso-occlusion in children with sickle cell disease.

    Science.gov (United States)

    Mahdi, Najat; Al-Ola, Khadija; Al-Subaie, Abeer M; Ali, Muhallab E; Al-Irhayim, Zaid; Al-Irhayim, A Qader; Almawi, Wassim Y

    2008-04-01

    We investigated the association of HLA class II alleles and haplotypes with sickle cell anemia vaso-occlusive crisis (VOC). DRB1*100101 was positively associated, while DRB1*140101, DRB1*150101, and DQB1*060101 were negatively associated, with VOC. Both susceptible (DRB1*100101-DQB1*050101) and protective (DRB1*110101-DQB1*030101 and DRB1*150101-DQB1*060101) haplotypes were identified, indicating that HLA class II haplotypes influence VOC risk.

  20. Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation

    Science.gov (United States)

    2016-04-26

    Thalassemia; Sickle Cell Disease; Glanzmann Thrombasthenia; Wiskott-Aldrich Syndrome; Chronic-granulomatous Disease; Severe Congenital Neutropenia; Leukocyte Adhesion Deficiency; Schwachman-Diamond Syndrome; Diamond-Blackfan Anemia; Fanconi Anemia; Dyskeratosis-congenita; Chediak-Higashi Syndrome; Severe Aplastic Anemia

  1. [Susceptibility of induced sickle in samples of heterozygous hemoglobin S patients (sickle cell trait) suffering diabetes mellitus type 2].

    Science.gov (United States)

    Díaz-Piedra, Pablo; Cervantes-Villagrana, Alberto Rafael; Ramos-Jiménez, Raúl; Presno-Bernal, José Miguel; Cervantes-Villagrana, Rodolfo Daniel

    2015-01-01

    Hemoglobin S is an abnormal protein that induces morphological changes in erythrocyte in low-oxygen conditions. In Mexico, it is reported that up to 13.7% of the population with mutation in one allele are considered asymptomatic (sickle cell trait). The sickle cell trait and diabetes mellitus are conditions that occur together in more than one million patients worldwide. Both diseases possibly produce microvascular changes in retinopathy and acute chest syndrome. The aim of this study was to evaluate the induction of sickle cells in samples of diabetic patients with sickle cell trait to identify altered red cell parameters. We obtained samples of diabetic patients to determine hemoglobin A1c and S; furthermore, red blood cell biometrics data were analyzed. We found that older men with diabetes were susceptible to generate sickle cells and this correlated with reduced red blood cell count and an increase in media cell volume. In samples of women diabetes, there were no differences. We conclude that samples from patients with sickle cell trait and diabetes can cause sickle cells with high frequency in men, with lower red blood cells count and increased mean corpuscular volume as susceptibility parameters.

  2. The role of fibrocytes in sickle cell lung disease.

    Directory of Open Access Journals (Sweden)

    Joshua J Field

    Full Text Available BACKGROUND: Interstitial lung disease is a frequent complication in sickle cell disease and is characterized by vascular remodeling and interstitial fibrosis. Bone marrow-derived fibrocytes have been shown to contribute to the pathogenesis of other interstitial lung diseases. The goal of this study was to define the contribution of fibrocytes to the pathogenesis of sickle cell lung disease. METHODOLOGY/PRINCIPAL FINDINGS: Fibrocytes were quantified and characterized in subjects with sickle cell disease or healthy controls, and in a model of sickle cell disease, the NY1DD mouse. The role of the chemokine ligand CXCL12 in trafficking of fibrocytes and phenotype of lung disease was examined in the animal model. We found elevated concentration of activated fibrocytes in the peripheral blood of subjects with sickle cell disease, which increased further during vaso-occlusive crises. There was a similar elevations in the numbers and activation phenotype of fibrocytes in the bone marrow, blood, and lungs of the NY1DD mouse, both at baseline and under conditions of hypoxia/re-oxygenation. In both subjects with sickle cell disease and the mouse model, fibrocytes expressed a hierarchy of chemokine receptors, with CXCR4 expressed on most fibrocytes, and CCR2 and CCR7 expressed on a smaller subset of cells. Depletion of the CXCR4 ligand, CXCL12, in the mouse model resulted in a marked reduction of fibrocyte trafficking into the lungs, reduced lung collagen content and improved lung compliance and histology. CONCLUSIONS: These data support the notion that activated fibrocytes play a significant role in the pathogenesis of sickle cell lung disease.

  3. 78 FR 66747 - Sickle Cell Disease Public Meeting on Patient-Focused Drug Development

    Science.gov (United States)

    2013-11-06

    ... opportunity to consider participating in a clinical trial studying experimental treatments for sickle cell... how severe your sickle cell disease is, how well current treatments are working for you, your...

  4. Mycobacterium avium Complex Infection in a Patient with Sickle Cell Disease and Severe Iron Overload

    Directory of Open Access Journals (Sweden)

    Kamal Shemisa

    2014-01-01

    Full Text Available A 34-year-old female with sickle cell anemia (hemoglobin SS disease and severe iron overload presented to our institution with the subacute presentation of recurrent pain crisis, fever of unknown origin, pancytopenia, and weight loss. A CT scan demonstrated both lung and liver nodules concerning for granulomatous disease. Subsequent biopsies of the liver and bone marrow confirmed the presence of noncaseating granulomas and blood cultures isolated Mycobacterium avium complex MAC. Disseminated MAC is considered an opportunistic infection typically diagnosed in the immunocompromised and rarely in immunocompetent patients. An appreciable number of mycobacterial infection cases have been reported in sickle cell disease patients without immune dysfunction. It has been reported that iron overload is known to increase the risk for mycobacterial infection in vitro and in vivo studies. While iron overload is primarily known to cause end organ dysfunction, the clinical relationship with sickle cell disease and disseminated MAC infection has not been reported. Clinical iron overload is a common condition diagnosed in the sub-Saharan African population. High dietary iron, genetic defects in iron trafficking, as well as hemoglobinopathy are believed to be the etiologies for iron overload in this region. Patients with iron overload in this region were 17-fold more likely to die from Mycobacterium tuberculosis. Both experimental and clinical evidence suggest a possible link to iron overload and mycobacterial infections; however larger observational studies are necessary to determine true causality.

  5. Amelioration of Sickle Cell Pain after Parathyroidectomy in Two Patients with Concurrent Hyperparathyroidism: An Interesting Finding

    Directory of Open Access Journals (Sweden)

    John Muthu

    2016-01-01

    Full Text Available Patients with sickle cell disease have high morbidity and healthcare utilization due to repeated painful crises. Some coexisting conditions which cause pain similar to sickle cell disease may go undiagnosed in these patients. We report two adults with concurrent hyperparathyroidism who experienced significant improvement in sickle cell pain following parathyroidectomy thereby pointing to hyperparathyroidism as the principal causative factor for their pain. Meticulous evaluation for parathyroid disorders can be rewarding in sickle cell disease.

  6. Physical growth of children with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Mukherjee Malay

    2004-01-01

    Full Text Available Anthropometric measurements were used to study the physical growth of 58 sickle cell disease(SS children with severe clinical manifestations and compared with 86 normal(AA children from Nagpur district of Maharashtra. Both sickle cell disease male and female children were shown to have statistically significant lower weights, heights, sitting heights, mid arm circumferences, skin fold thickness and body mass indexes but not upper/ lower segment ratio as compared to normal children with comparable sex and ages. No significant differences were observed between the male and female children with sickle cell disease or normal for any of the anthropometric measurements. A significant lower values of all the measurements except U/L ratio was observed in the age group of 11-14 years than the earlier age among the sickle cell disease children as compared to the normal children of the same age and sex groups. Thus, these results indicate that as a group, children with sickle cell disease weigh less, are shorter and undernourished as compared to normal children.

  7.  Autosplenectomy of Sickle Cell Disease in Zaria, Nigeria: An Ultrasonographic Assessment

    Directory of Open Access Journals (Sweden)

    Mohammed Sirajo Aminu

    2012-03-01

    Full Text Available  Objectives: During infancy and early childhood, the spleencommonly enlarges in patients with sickle cell anemia (SCA, and it thereafter undergoes progressive atrophy due to repeated episodes of vaso-occlusion and infarction, leading to autosplenectomy in adult life. However, this may not always be the case as some studies have reported splenomegaly persisting into adult life. This study aims to determine and review the prevalence of autosplenectomy by abdominal ultrasonography in sickle cell anemic patients in Zaria, Nigeria.Methods: An ex-post-facto cross study of 74 subjects was carried out between May to July in 2010. Hematological parameters were determined by an analyzer while B mode Ultrasonography was used to determine the craniocaudal length of the spleen, if visualized.Results: The mean age of the sickle cell subjects was 23.2 ±5.3 years, while that of the controls was 22.7±12.4 years. Of the 74 sickle cell subjects, 55.4�0were females; while of the 20 controls,50�0were females. Forty one subjects (55.4�20had autosplenectomy and a significant difference existed in the mean splenic size compared with the control (p<0.0001. Only 3 (4.05�20subjects had splenomegaly, while 23 (31�20had a shrunken spleen.Conclusion: Anatomical autosplenectomy is not an uncommon finding in SCA patients. This may be related to inadequate clinical care due to the lack of good health education, ignorance, poverty, and poor standard of care, as well as the lack of newer therapeutic agents.

  8. Successful orthotopic liver transplantation in an adult patient with sickle cell disease and review of the literature

    Directory of Open Access Journals (Sweden)

    Morey Blinder

    2013-05-01

    Full Text Available Sickle cell disease can lead to hepatic complications ranging from acute hepatic crises to chronic liver disease including intrahepatic cholestasis, and iron overload. Although uncommon, intrahepatic cholestasis may be severe and medical treatment of this complication is often ineffective. We report a case of a 37 year-old male patient with sickle cell anemia, who developed liver failure and underwent successful orthotopic liver transplantation. Both pre and post-operatively, he was maintained on red cell transfusions. He remains stable with improved liver function 42 months post transplant. The role for orthotopic liver transplantation is not well defined in patients with sickle cell disease, and the experience remains limited. Although considerable challenges of post-transplant graft complications remain, orthotopic liver transplantation should be considered as a treatment option for sickle cell disease patients with end-stage liver disease who have progressed despite conventional medical therapy. An extended period of red cell transfusion support may lessen the post-operative complications.

  9. Cranial involvement in sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Alkan, Ozlem, E-mail: yalinozlem@hotmail.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kizilkilic, Ebru, E-mail: ebru90@yahoo.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kizilkilic, Osman, E-mail: ebos90@hotmail.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Yildirim, Tulin, E-mail: ytulin@hotmail.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Karaca, Sibel, E-mail: sibelkaraca@hotmail.com [Department of Neurology, Faculty of Medicine, Baskent University, Ankara (Turkey); Yeral, Mahmut, E-mail: mahmutyeral@hotmail.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kasar, Mutlu, E-mail: mutlukasar@hotmail.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Ozdogu, Hakan, E-mail: hakanozdogu@hotmail.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey)

    2010-11-15

    Purpose: To evaluate cranial findings in patients with neurologically symptomatic sickle cell disease (SCD). Materials and methods: We studied 50 consecutive patients with SCD and neurologic symptoms. All patients underwent brain MR examinations: all 50 underwent classic MR imaging; 42, diffusion-weighted MR imaging; 10, MR angiography; four, MR venography; and three patients, digital subtraction angiography. Results: Of the 50 SCD patients, 19 (38%) had normal MR findings, and 31 (62%) showed abnormalities on brain MR images. Of the 50 patients, 16 (32%) had ischemic lesions; two (4%), subarachnoid hemorrhage; one (2%), moya-moya pattern; one (2%), posterior reversible encephalopathy; one (2%), dural venous sinus thrombosis; 12 (24%), low marrow signal intensity and thickness of the diploic space; 12 (24%), cerebral atrophy; and two (4%), osteomyelitis. Twenty-seven patients (54%) presented with headache, which was the most common clinical finding. Conclusions: The cranial involvement is one of the most devastating complications of SCD. Early and accurate diagnosis is important in the management of cranial complications of SCD.

  10. A Fatal Case of Immune Hyperhemolysis with Bone Marrow Necrosis in a Patient with Sickle Cell Disease

    Science.gov (United States)

    Singavi, Arun; Johnson, Susan T.; Field, Joshua J.

    2017-01-01

    In patients with sickle cell disease, hyperhemolysis is a rare but life-threatening complication of transfusion. In this case report, we describe a 61 year-old woman with hemoglobin sickle cell (SC) disease and history of alloimmunization who developed hyperhemolysis associated with a transfusion. She was found to have a warm and a clinically-significant cold autoantibody. Severe anemia (Hb 2.7 g/dL) with reticulocytopenia and thrombocytopenia prompted a bone marrow biopsy, which demonstrated extensive bone marrow necrosis. Despite treatment, the bone marrow failure did not improve and the patient died on hospital day 38. This case illustrates the potential risks of transfusion in a patient with sickle cell disease, especially one with previous hemolytic reactions. While uncommon, hyperhemolysis can cause death, in this case by extensive bone marrow necrosis. In patients with sickle cell disease, judicious use of red cell transfusions with phenotypically-matched units can diminish, but never completely abrogate, the risks associated with transfusion. PMID:28286630

  11. Role of Exercise-Induced Oxidative Stress in Sickle Cell Trait and Disease.

    Science.gov (United States)

    Chirico, Erica N; Faës, Camille; Connes, Philippe; Canet-Soulas, Emmanuelle; Martin, Cyril; Pialoux, Vincent

    2016-05-01

    Sickle cell disease is a class of hemoglobinopathy in humans, which is the most common inherited disease in the world. Although complications of sickle cell disease start from polymerization of red blood cells during its deoxygenating phase, the oxidative stress resulting from the biological processes associated with this disease (ischaemic and hypoxic injuries, hemolysis and inflammation) has been shown to contribute to its pathophysiology. It is widely known that chronic exercise reduces oxidative stress in healthy people, mainly via improvement of antioxidant enzyme efficiency. In addition, recent studies in other diseases, as well as in sickle cell trait carriers and in a mouse model of sickle cell disease, have shown that regular physical activity could decrease oxidative stress. The purpose of this review is to summarize the role of oxidative stress in sickle cell disease and the effects of acute and chronic exercise on the pro-oxidant/antioxidant balance in sickle cell trait and sickle cell disease.

  12. Soluble CD163 levels in children with sickle cell disease

    DEFF Research Database (Denmark)

    Møller, Holger Jon; Nielsen, Marianne Jensby; Bartram, Jack

    2011-01-01

    Sickle cell disease (SCD) is characterized by vasculopathy, which has been causally linked to intravascular haemolysis and high levels of free plasma haemoglobin. Soluble CD163 (sCD163) is implicated in the clearance of free plasma haemoglobin and high plasma concentrations have been linked...... to arterial disease. We therefore investigated the value of sCD163 as a biomarker in children with SCD, and also measured haptoglobin levels in this population. We measured sCD163 in 25 control children with no haemoglobinopathy, 41 with sickle cell anaemia (HbSS) in the steady state, 27 with HbSS taking...

  13. Sickle cell disease with orbital infarction and epidural hematoma

    Energy Technology Data Exchange (ETDEWEB)

    Naran, A.D.; Fontana, L. [Dept. of Diagnostic Radiology, New York Methodist Hospital, Brooklyn, NY (United States)

    2001-04-01

    Although bone infarction is a common feature in sickle cell disease, the involvement of the orbit is an unusual complication. Intracranial bleeding is another uncommon and serious complication. Few cases of orbital infarction alone have been reported. We report imaging findings (CT, bone scan, MRI) in a 16-year-old boy with sickle cell disease with orbital infarction and epidural hematoma. The precise cause of epidural hematoma is not well known, but it is probably related to vaso-occlusive episodes and the tearing of small vessels. (orig.)

  14. Bone marrow scan evaluation of arthropathy in sickle cell disorders

    Energy Technology Data Exchange (ETDEWEB)

    Alavi, A.; Schumacher, H.R.; Dorwart, B.; Kuhl, D.E.

    1976-04-01

    Twelve patients with sickle cell hemoglobinopathies and arthropathy were studied, using technetium Tc 99m sulfur colloid bone marrow scans. Eight of 12 had decreased marrow radionuclide activity adjacent to painful joints, suggesting obliteration of vessels supplying bone marrow. Four patients without marrow defects on scanning had causes other than infarction for their joint symptoms, viz, small fractures, postinfectious synovitis, degenerative arthritis, and osteochondromas. Roentgenograms never showed bony abnormalities in five patients with marrow infarctions, and, in three others, showed defects several months later than did the marrow scans. Bone marrow scans offer a sensitive and early diagnostic aid in sickle cell hemoglobinopathies with arthropathy.

  15. Foetal Haemoglobin, Erythrocytes Containing Foetal Haemoglobin, and Hematological Features in Congolese Patients with Sickle Cell Anaemia

    Directory of Open Access Journals (Sweden)

    L. Tshilolo

    2012-01-01

    Full Text Available High HbF levels and F cells are correlated with reduced morbidity and mortality in sickle cell disease (SCD. This paper was designed to determine the HbF and F cells levels in Congolese sickle cell anemia (SCA patients in order to determine their impact on the expression of SCD. Population and Method. HbF levels were measured in 89 SCA patients (mean age 11.4 yrs using a standard HPLC method. F cell quantitation was done in a second group of SCA patients (=42, mean age 8.9 yrs and compared with a control group (=47, mean age 5 yrs. F cells were quantified by a cytofluorometric system (MoAb-HbF—FITC; cut off at 0.5%. Results. The mean value of HbF was 7.2% ± 5.0 with heterogeneous distribution, most patients (76% having HbF 4.5% developed less painful crisis and had higher percentage of reticulocytes. Conclusion. Congolese SCA patients displayed low levels of HbF and F-cells that contribute to the severity of SCD.

  16. Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.

    OpenAIRE

    Pagnier, J.; Mears, J G; Dunda-Belkhodja, O; Schaefer-Rego, K E; Beldjord, C; Nagel, R L; Labie, D

    1984-01-01

    Previous studies of the Hpa I cleavage site-sickle cell hemoglobin gene linkage in various African populations suggested that the sickle gene arose independently more than once. In the present study we have performed restriction endonuclease haplotype analysis for the beta-globin-like gene cluster from four separate geographic areas in Africa, all of which possess the sickle gene. In Benin (Central West Africa) and Algeria (Arab North Africa) all chromosomes carrying the sickle gene possess a...

  17. Nutrition assessment in children with sickle cell disease.

    Science.gov (United States)

    Williams, R; George, E O; Wang, W

    1997-01-01

    Children with sickle cell disease have decreased height and weight when compared with their peers. Although exact reasons for poor growth have not been established, increased calorie and protein needs and deficiencies in zinc, folic acid, and vitamins A, C, and E may be factors. To determine whether inadequate nutrient intake contributes to this poor growth, we conducted a survey of the nutrition knowledge and practices of families affected by sickle cell disease. Sixty-one patients with a median age of 8 years (range, 13 months to 17 years) participated in the study. Patients with homozygous S hemoglobin (sickle cell) disease (Hb SS, n = 34) and sickle beta zero thalassemia (Hb S beta zero-thalassemia, n = 2) were combined; 19% were below the fifth percentile for height. The other patients, with sickle hemoglobin C disease (Hb SC, n = 21) and sickle beta plus thalassemia (Hb beta(+)-thalassemia, n = 4), were grouped, and 4% were below the fifth percentile for height (P = .043). Ninety percent of the study patients or their parents were familiar with the food groups indicated on the US Department of Agriculture's Food Guide Pyramid, but most patients failed to consume appropriate amounts from those groups. Although two thirds of the patients ate the recommended number of servings daily from the meat group, only 20% to 31% of the recommended servings from each of the other food groups was consumed. This was possibly related to low socioeconomic status. The patients in the Hb SS group ate significantly less from the bread (P group. Fifty-nine percent of families had incomes below the poverty level, and 79% participated in a food assistance program. We conclude that the nutrient intake of patients with sickle cell disease is often inadequate. Education for patients with sickle cell disease should focus on (1) specific nutrient needs, with proper distribution of dietary intake among the food groups, (2) ways to provide nutritious meals on a limited income, and (3

  18. Academic Attainment Findings in Children with Sickle Cell Disease

    Science.gov (United States)

    Epping, Amanda S.; Myrvik, Matthew P.; Newby, Robert F.; Panepinto, Julie A.; Brandow, Amanda M.; Scott, J. Paul

    2013-01-01

    Background: Children with sickle cell disease (SCD) demonstrate deficits in cognitive and academic functioning. This study compared the academic attainment of children with SCD relative to national, state, and local school district rates for African American students. Methods: A retrospective chart review of children with SCD was completed and…

  19. A transgenic mouse model of sickle cell disorder.

    NARCIS (Netherlands)

    D.R. Greaves (David); P.J. Fraser (Peter); M.A. Vidal; M.J. Hedges; D. Ropers; L. Luzzatto; F.G. Grosveld (Frank)

    1990-01-01

    textabstractA single base-pair mutation (beta s) in codon 6 of the human beta-globin gene, causing a single amino-acid substitution, is the cause of sickle cell anaemia. The mutant haemoglobin molecule, HbS, polymerizes when deoxygenated and causes deformation of the erythrocytes to a characteristic

  20. PYOMYOSITIS IN SICKLE-CELL DISEASE - AN UNEXPECTED DIAGNOSIS

    NARCIS (Netherlands)

    SMID, WM; BREUKELMAN, F; KONINGS, JG; DAENEN, S

    1995-01-01

    Pyomyositis is a pyogenic infection of muscle, leading to abscess formation. Pyomyositis is frequent in tropical areas but uncommon in areas with a temperate climate [4]; therefore, diagnosis can be difficult and can be delayed [6]. Sickle cell disease (SCD) can be complicated by vascular occlusion

  1. Sickle Cell Trait Not Linked to Early Death in Study

    Science.gov (United States)

    ... 3, 2016 WEDNESDAY, Aug. 3, 2016 (HealthDay News) -- New research challenges the long-held belief that people with sickle cell trait, who are born with ... span and causes sudden episodes of severe pain. People with the disease carry ... on active duty in the U.S. Army over a four-year period. All had undergone ...

  2. Erythrocyte oxidative stress markers in children with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Priscila Bacarin Hermann

    2016-08-01

    Full Text Available Abstract Objective To determine eight parameters of oxidative stress markers in erythrocytes from children with sickle cell disease and compare with the same parameters in erythrocytes from healthy children, since oxidative stress plays an important role in the pathophysiology of sickle cell disease and because this disease is a serious public health problem in many countries. Methods Blood samples were obtained from 45 children with sickle cell disease (21 males and 24 females with a mean age of 9 years; range: 3–13 years and 280 blood samples were obtained from children without hemoglobinopathies (137 males and 143 females with a mean age of 10 years; range: 8–11 years, as a control group. All blood samples were analyzed for methemoglobin, reduced glutathione, thiobarbituric acid reactive substances, percentage of hemolysis, reactive oxygen species, and activity of the enzymes glucose 6-phosphate dehydrogenase, superoxide dismutase, and catalase. Data were analyzed using Student's t-test and were expressed as the mean ± standard deviation. A p-value of <0.05 was considered significant. Results Significant differences were observed between children with sickle cell disease and the control group for the parameters methemoglobin, thiobarbituric acid reactive substances, hemolysis, glucose 6-phosphate dehydrogenase activity, and reactive oxygen species, with higher levels in the patients than in the controls. Conclusions Oxidative stress parameters in children's erythrocytes were determined using simple laboratory methods with small volumes of blood; these biomarkers can be useful to evaluate disease progression and outcomes in patients.

  3. Enhanced thrombin generation in children with sickle cell disease

    NARCIS (Netherlands)

    Peters, M; Plaat, B E; ten Cate, H; Wolters, H J; Weening, R S; Brandjes, D P

    1994-01-01

    Recent studies suggest that increased activity of the coagulation system, measured with sensitive assays for activation markers, may be important in the pathogenesis of vascular occlusion in sickle cell disease (SCD). Since most of these studies were carried out in adult patients and SCD is an inher

  4. Collapsing glomerulopathy in sickle cell disease: a case report

    Directory of Open Access Journals (Sweden)

    Sealy Peter L

    2011-02-01

    Full Text Available Abstract Introduction Sickle cell disease has been associated with many renal structural and functional abnormalities. Collapsing glomerulopathy or the collapsing variant of focal segmental glomerulosclerosis is a rare clinicopathologic entity in patients with sickle cell disease that requires timely diagnosis and aggressive management. Case presentation In this case report we describe a 21-year-old African-American woman with a medical history of significant sickle cell disease and asthma. She was admitted for pain, decreased urine output, bilateral leg swelling and reported weight gain. During her period of hospitalisation she developed acute renal failure requiring dialysis. Further investigation revealed the collapsing variant of focal segmental glomerulosclerosis. Conclusions Although focal segmental glomerulosclerosis is a common feature of sickle cell nephropathy, the collapsing variant of focal segmental glomerulosclerosis or collapsing glomerulopathy has been rarely documented. Even when other risk factors are controlled, collapsing glomerulopathy has a very poor prognosis. This is a rare case of a patient with massive proteinuria presenting as acute renal failure with a very poor response to corticosteroids and a much faster rate of progression to end-stage renal disease.

  5. Impact of Undertreated Sickle Cell Pain in the Caribbean

    Directory of Open Access Journals (Sweden)

    PD Shah

    2014-09-01

    Full Text Available Objective: Undertreated pain around the world includes the acute and chronic pain caused by sickle cell disease (SCD. In collaboration with a Caribbean association that aims to provide assistance to those diagnosed with SCD, we surveyed adults with SCD about pain management and impact of SCD pain. Methods: Participants were recruited from a group of 55 adults with SCD. A survey was administered to those who agreed to participate. Questions centred on their self-assessed level of pain due to SCD, the extent to which that pain interferes with daily activities, and how they seek and obtain pain relief. Results: Responses were received from 39 participants (female: n = 28, 72%, male: n = 11, 28%; mean age: 31.6 (SD ± 13.7 years. Sickle cell disease pain significantly disrupts participants’ daily activities (62%, mood (72%, work (64% and sleep (69%. Prescription medicine was ineffective for 41% and about half (n = 19 sought alternate means of relief. Conclusion: Sickle cell disease pain is undertreated in the Caribbean, disrupts daily activities and affects quality of life by impinging on education, employment and marital status. Sickle cell disease and other types of pain can be clinically managed safely, effectively and inexpensively. By failing to palliate and overcome the problem of undertreated pain, healthcare systems and providers contribute to socio-economic amongst other repercussions for sufferers, their families and caregivers, and their nations.

  6. Cerebral blood flow in sickle cell cerebrovascular disease

    Energy Technology Data Exchange (ETDEWEB)

    Huttenlocher, P.R.; Moohr, J.W.; Johns, L.; Brown, F.D.

    1984-05-01

    Cerebral blood flow (CBF) has been studied by the xenon-133 (/sup 133/Xe) inhalation method in 16 children with suspected sickle cell cerebrovascular disease. Abnormalities consisting of decreases in total, hemispheral, or regional CBF were found in 17 of 26 studies. Eleven studies performed immediately after stroke, transient ischemic attack, or depression of state of alertness showed abnormalities. In addition to confirming regional cerebrovascular insufficiency in children with stroke due to major cerebral artery occlusion, the method detected diffuse decrease in CBF in children with stupor, coma, and seizures who had normal angiographic findings. In contrast, six of seven studies obtained after exchange transfusion or during maintenance on hypertransfusion therapy showed normal findings. The difference between results in patients with acute neurologic disturbances and those receiving transfusion therapy was statistically significant (P less than .005). The data indicate that the /sup 133/Xe method reliably demonstrates cerebrovascular impairment in sickle cell disease. They also suggest that CBF changes in patients with sickle cell disease can be reversed by exchange transfusion and by hypertransfusion therapy. The /sup 133/Xe CBF method may be useful for following up children with sickle cell disease who are at high risk for recurrent stroke.

  7. Treatment of sickle cell leg ulcers with pentoxifylline.

    Science.gov (United States)

    Frost, M L; Treadwell, P

    1990-06-01

    A 58-year-old black man with leg ulcers of 43 years duration responded to pentoxifylline 400 mg tid in 8 months. The ability of pentoxifylline to increase erythrocyte flexibility and decrease blood viscosity was the basis for our use of this agent. Oral pentoxifylline may be a useful adjunct in healing sickle cell leg ulcers and preventing their recurrence.

  8. Development and evaluation of a sickle cell assessment instrument.

    Science.gov (United States)

    Day, Sara W

    2004-01-01

    The current ability to predict very young children with sickle cell disease who are likely to have severe complications later in life permits accurate tailoring of therapy to match disease-related risks. A valid and reliable instrument is essential to accurately assess these children prior to referring them to therapies that are not without risk. This study was designed to develop a Sickle Cell Disease Assessment Instrument with two domains-high-risk identification and disease severity classification-and to evaluate instrument validity and reliability. Instrument development involved identification and definition of critical attributes, assignment of numerical values to critical attributes, and development of a scoring system. Content validity was measured using a panel of five experts in the field of sickle cell disease. Registered nurses using the equivalence approach determined interrater reliability and using test-retest design determined stability. Nurses are often the first persons to identify sickle cell patients that need additional intervention. This instrument will allow them to accurately and objectively assess their patients for high-risk indicators and disease severity classification.

  9. N-acetylcysteine reduces oxidative stress in sickle cell patients

    NARCIS (Netherlands)

    Nur, Erfan; Brandjes, Dees P.; Teerlink, Tom; Otten, Hans-Martin; Elferink, Ronald P. J. Oude; Muskiet, Frits; Evers, Ludo M.; ten Cate, Hugo; Biemond, Bart J.; Duits, Ashley J.; Schnog, John-John B.

    2012-01-01

    Oxidative stress is of importance in the pathophysiology of sickle cell disease (SCD). In this open label randomized pilot study the effects of oral N-acetylcysteine (NAC) on phosphatidylserine (PS) expression as marker of cellular oxidative damage (primary end point), and markers of hemolysis, coag

  10. Malevolent ogbanje: recurrent reincarnation or sickle cell disease?

    Science.gov (United States)

    Nzewi, E

    2001-05-01

    The Igbo of Nigeria believe that everyone is ogbanje (reincarnates) but malevolent ogbanje differ from others in being revenge-driven, chronically ill and engaging in repeated cycles of birth, death and reincarnation. This study examined culturally defined symptoms of 100 children classified as malevolent ogbanje; and investigated their family history and child mortality experience. There was concordance between cultural descriptions of malevolent ogbanje and symptoms as manifested in sickle cell patients. Hemoglobin analysis showed that 70 of the 100 children had sickle cell disease (SCD); while 68 families had death-related names. The symptoms associated with Igbo cases of reincarnation, high child mortality rates, and the high prevalence of sickle cell disease among children classified as malevolent ogbanje all support the conclusion that the symptomatology and early mortality experience are related to sickle cell. Names with themes of death were prevalent in families of children described as malevolent ogbanje. The findings are discussed with reference to cultural resistance to SCD as an explanation for malevolent ogbanje and the implications for the health care of children with SCD in Nigeria.

  11. Primary hemorrhagic stroke in a 12-year-old female with sickle cell disease and normal transcranial Doppler.

    Science.gov (United States)

    Wolf, Michael; Cangemi, Carla; Drachtman, Richard; Masterson, Margaret

    2008-06-01

    Stroke is a well-known complication of sickle cell disease (SCD). It is estimated to occur in approximately 11% of patients with SCD by the age of 20. The most frequent cause of cerebrovascular accident (CVA) is blockage of the intracranial internal carotid and middle cerebral arteries. Hemorrhagic stroke is less common, occurring in approximately 3% of children by age 20. Transcranial Doppler (TCD) is the standard test for prediction of stroke risk in children with sickle cell anemia. The authors present a case of a 12-year-old female with SCD transferred to their institution after suffering a catastrophic intracranial hemorrhage. Her most recent TCD was normal 6 months prior to her admission.

  12. Red cell exchange: special focus on sickle cell disease.

    Science.gov (United States)

    Kim, Haewon C

    2014-12-05

    The primary function of red blood cells (RBCs) is to deliver oxygen from the lungs to tissues. Tissue hypoxia occurs when the oxygen-carrying capacity of RBCs is compromised due primarily to 3 causes: (1) a reduction in circulating RBC mass, (2) an increase in circulating RBC mass, or (3) abnormal hemoglobin (Hb) that either does not sufficiently release oxygen to tissues (high-oxygen-affinity hemoglobin) or occludes the microvasculature due to deformed RBCs (sickled RBCs). To improve oxygenation in patients with reduced or increased RBC mass, RBC administration (simple transfusion) or RBC removal (RBC depletion) is performed, respectively. However, for patients with abnormal Hb, RBCs containing abnormal Hb are removed and replaced by healthy volunteer donor RBCs by red cell exchange (RCE). RCE can be performed by manual exchange or by automated exchange using a blood cell separator (erythrocytapheresis). In this review, indications for RCE in sickle cell disease using the evidence-based American Society for Apheresis categories(1) are presented and the rationale for RCE in each disorder are discussed. Simple transfusion versus RCE and manual RCE versus automated RCE are compared. Finally, this review briefly presents some of the challenges of performing erythrocytapheresis in small children and discusses various choices for central venous access during RCE.(2.)

  13. Environmental determinants of severity in sickle cell disease.

    Science.gov (United States)

    Tewari, Sanjay; Brousse, Valentine; Piel, Frédéric B; Menzel, Stephan; Rees, David C

    2015-09-01

    Sickle cell disease causes acute and chronic illness, and median life expectancy is reduced by at least 30 years in all countries, with greater reductions in low-income countries. There is a wide spectrum of severity, with some patients having no symptoms and others suffering frequent, life-changing complications. Much of this variability is unexplained, despite increasingly sophisticated genetic studies. Environmental factors, including climate, air quality, socio-economics, exercise and infection, are likely to be important, as demonstrated by the stark differences in outcomes between patients in Africa and USA/Europe. The effects of weather vary with geography, although most studies show that exposure to cold or wind increases hospital attendance with acute pain. Most of the different air pollutants are closely intercorrelated, and increasing overall levels seem to correlate with increased hospital attendance, although higher concentrations of atmospheric carbon monoxide may offer some benefit for patients with sickle cell disease. Exercise causes some adverse physiological changes, although this may be off-set by improvements in cardiovascular health. Most sickle cell disease patients live in low-income countries and socioeconomic factors are undoubtedly important, but little studied beyond documenting that sickle cell disease is associated with decreases in some measures of social status. Infections cause many of the differences in outcomes seen across the world, but again these effects are relatively poorly understood. All the above factors are likely to account for much of the pathology and variability of sickle cell disease, and large prospective studies are needed to understand these effects better.

  14. Laparoscopic cholecystectomy in sickle cell patients in Niger

    Directory of Open Access Journals (Sweden)

    Abarchi Habibou

    2009-12-01

    Full Text Available BACKGROUND: We report the results of our experience on laparoscopic cholecystectomy in sickle cell disease patients in Niger, which is included in the sickle cell belt. METHODS: A prospective study covering a period of 45 months, from July 2004 to March 2008. We included all sickle cell disease patients that underwent laparoscopic cholecystectomy. Blood transfusion was done for patients with haemoglobin (Hb levels less than 9g/dl. Homozygous and composite heterozygous patients were admitted in intensive care unit for 24 hours or plus post operatively. RESULTS:The series included 47 patients operated by the same surgeon, 31 females (66% and 16 males (34% (Ratio: 0.51. The average age was 22.4 years (range: 11 to 46 years and eleven (23.4% of them were aged less than 15 years. The types of sickle cell disease found were 37 SS, 2 SC, 1 S beta-thalassemia and 7 AS. Indications for surgery were biliary colic in 29 cases (61.7% and acute cholecystitis in 18 cases (38.3%. The mean operative time was 64 min (range: 42 to 103 min. Conversion to open cholecystectomy in 2 cases (4.2 % for non recognition of Calot‘s triangle structures. The postoperative complications were: four (4 cases of vaso-occlusive crisis and one case of acute chest syndrome. The mean postoperative hospital stay was 3,5days (range: 1 to 9 days. No mortality was encountered. CONCLUSION: Laparoscopic cholecystectomy is a safe procedure in sickle cell patients. It should be a multidisciplinary approach and involve a haematologist, an anaesthesiologist and a surgeon.

  15. Estimated red blood cell thickness in microcytic anemia due to iron deficiency anemia and thalassemia

    Directory of Open Access Journals (Sweden)

    Viroj Wiwanitkit

    2009-05-01

    Full Text Available "nAnemia is one of the most common hematological disorders that are still the present in all countries around the world. Microcytic anemia is a specific kind of anemia presenting with small red blood cell. In this paper, the author discusses on the estimated red blood cell thickness, a new proposed parameter, comparing between that of iron deficiency anemia and thalassemia and further extrapolate on the clinical implication.

  16. Intrasplenic masses of ``preserved`` functioning splenic tissue in sickle cell disease: correlation of imaging findings (CT, ultrasound, MRI, and nuclear scintigraphy)

    Energy Technology Data Exchange (ETDEWEB)

    Levin, T.L. [Department of Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, 3959 Broadway, BHN 3-318, New York, NY 10032 (United States); Berdon, W.E. [Department of Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, 3959 Broadway, BHN 3-318, New York, NY 10032 (United States); Haller, J.O. [Department of Radiology, SUNY Downstate Medical Center, Brooklyn, New York (United States); Ruzal-Shapiro, C. [Department of Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, 3959 Broadway, BHN 3-318, New York, NY 10032 (United States); Hurlet-Jenson, A. [Department of Pediatrics, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, New York (United States)

    1996-09-01

    Purpose. We studied six patients with sickle cell disease (SSD), five homozygous for sickle cell anemia and one with sickle beta-thalassemia, in whom rounded intrasplenic masses proved to be preserved functioning splenic tissue. Materials and methods. Available images including computed tomography, ultrasonography, bone scans (Tc-99m MDP), liver spleen scans (Tc-99m sulfur colloid), and MRI were evaluated. Results. The masses were low density on CT (in an otherwise calcified spleen), hypoechoic relative to the echogenic spleen on US, and had the imaging characteristics of normal spleen on MRI. They failed to accumulate Tc-99m MDP but did demonstrate uptake of Tc-99m sulfur colloid. Conclusion. In a patient with SSD and intrasplenic masses, proper correlation of multiple imaging modalities will establish the diagnosis of functioning splenic tissue and avoid mistaken diagnosis of splenic abscess or infarction. (orig.). With 2 figs., 1 tab.

  17. Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells

    Science.gov (United States)

    2016-06-21

    Sickle Cell Disease; Thalassemia; Anemia; Granuloma; Wiskott-Aldrich Syndrome; Chediak Higashi Syndrome; Osteopetrosis; Neutropenia; Thrombocytopenia; Hurler Disease; Niemann-Pick Disease; Fucosidosis

  18. What motivates individuals with sickle cell disease to talk with others about their illness? Reasons for and against sickle cell disease disclosure.

    Science.gov (United States)

    Derlega, Valerian J; Maduro, Ralitsa S; Janda, Louis H; Chen, Ian A; Goodman, Benjamin M

    2016-05-26

    This interview study documented how individuals with sickle cell disease make decisions about who to talk with concerning their illness based on psychological and interpersonal issues that are important to them. Reasons for sickle cell disease disclosure to specific persons were self-related (receiving support, venting feelings), other-related (educating others about sickle cell disease, forewarning others about sickle cell disease-related problems, someone asked for information about the disease), or situational (mostly focusing on another person being physically close or available to talk to). Reasons for sickle cell disease nondisclosure to specific persons were self-related (fear of rejection, being stereotyped, maintaining privacy) or other-related (lack of support, not worrying someone).

  19. An analysis of the NIH-supported sickle cell disease research portfolio.

    Science.gov (United States)

    Gavini, Nara; Hoots, W Keith; Mensah, George A; Hanspal, Manjit

    2015-02-01

    Sickle cell disease (SCD), an inherited blood disorder is due to a single amino acid substitution on the beta chain of hemoglobin, and is characterized by anemia, severe infections, acute and chronic pain, and multi-organ damage. The National Institutes of Health (NIH) is dedicated to support basic, translational and clinical science research to improve care and ultimately, to find a cure for SCD that causes such suffering. This report provides a detailed analysis of grants funded by the NIH for SCD research in Fiscal Years 2007 through 2013. During this period, the NIH supported 247 de novo grants totaling $272,210,367 that address various aspects of SCD. 83% of these funds supported research project grants investigating the following 5 scientific themes: Pathology of Sickle Red Blood Cells; Globin Gene Expression; Adhesion and Vascular Dysfunction; Neurological Complications and Organ-specific Dysfunction; and Pain Management and Intervention. The remaining 17% of total funds supported career development and training grants; Small Business Innovation Research (SBIR) and Small Business Technology Transfer (STTR) grants; large Center grants; and Conference grants. Further analysis showed that the National Heart, Lung, and Blood Institute (NHLBI) is the largest funder of SCD research within NIH with 67% of total grants, contributing 77% of total funds; followed by the National Institute for Digestive Diseases and Kidney (NIDDK) that is funding 19% of grants, contributing 13% of total funds. The remaining 14% of grants totaling 10% of the funds were supported by all other NIH Institutes/Centers (ICs) combined. In summary, the NIH is using multiple funding mechanisms to support a sickle cell disease research agenda that is intended to advance the detection, treatment, and cure of this debilitating genetic disease.

  20. In vitro microfluidic model of sickle cell disease

    Science.gov (United States)

    Wood, D. K.; Higgins, J. M.; Mahadevan, L.; Bhatia, S. N.

    2010-03-01

    The pathophysiology of sickle cell disease is complicated by the multiscale processes that link the molecular genotype to the organismal phenotype: hemoglobin polymerization occurring in milliseconds, microscopic cellular sickling in a few seconds or less, and macroscopic vessel occlusion over a time scale of minutes. The rheology of sickle blood, which captures many of these processes, can be studied in vitro using physical tools and insights. We present a minimal microfluidic device in which blood flow dynamics can be directly manipulated by modulating physical factors such as oxygen concentration, capillary size, and fluid shear. We have used this system to map out the phase space of blood flow with respect to a combination of geometric, physical, chemical, and biological parameters. We show that morphological changes in erythrocytes due to sickle hemoglobin polymerization and melting are alone sufficient to change blood rheology. We characterize whole blood from many patients in this device and correlate in vitro performance to clinical outcomes, suggesting the potential utility of such a device for patient monitoring. Our experimental study integrates the dynamics of many of the processes associated with vasoocclusion and provides a potential tool for optimizing and individualizing treatment, and identifying new therapies.

  1. Juvenile fibromyalgia in an adolescent patient with sickle cell disease presenting with chronic pain.

    Science.gov (United States)

    Ramprakash, Stalin; Fishman, Daniel

    2015-10-01

    Juvenile fibromyalgia in children with sickle cell disease has not been reported in the literature. We report an adolescent patient with sickle cell whose pain symptoms progressed from having recurrent acute sickle cell pain crisis episodes to a chronic pain syndrome over several years. He was eventually diagnosed with juvenile fibromyalgia based on the clinical history and myofascial tender points and his pain symptoms responded better to multidisciplinary strategies for chronic fibromyalgia pain. Chronic pain in sickle cell disease is an area of poor research, and in addition there is inconsistency in the definition of chronic pain in sickle cell disease. Central sensitisation to pain is shown to occur after recurrent painful stimuli in a genetically vulnerable individual. In a chronic pain condition such as fibromyalgia central sensitisation is thought to play a key role. Fibromyalgia should be considered as one of the main differential diagnosis in any sickle cell patient with chronic pain.

  2. Portable microsystem integrates multifunctional dielectrophoresis manipulations and a surface stress biosensor to detect red blood cells for hemolytic anemia

    OpenAIRE

    Shengbo Sang; Qiliang Feng; Aoqun Jian; Huiming Li; Jianlong Ji; Qianqian Duan; Wendong Zhang; Tao Wang

    2016-01-01

    Hemolytic anemia intensity has been suggested as a vital factor for the growth of certain clinical complications of sickle cell disease. However, there is no effective and rapid diagnostic method. As a powerful platform for bio-particles testing, biosensors integrated with microfluidics offer great potential for a new generation of portable point of care systems. In this paper, we describe a novel portable microsystem consisting of a multifunctional dielectrophoresis manipulations (MDM) devic...

  3. Sickle cell patients are characterized by a reduced glycocalyx volume

    NARCIS (Netherlands)

    E.J. van Beers (Eduard); M. Nieuwdorp (Max); A.J. Duits (Ashley); L.M. Evers (Ludo); J.J.B. Schnog; B.J. Biemond (Bart)

    2008-01-01

    textabstractThe glycocalyx is an important anti-inflammatory and anti-adhesive barrier at the luminal side of endothelial cells. Glycocalyx volume was significantly reduced in sickle cell patients (HbSS/HbSβ0-thalassemia median 0.47L, IQR 0.27-0.66, HbSC/HbSβ+-thalassemia 0.23L, 0.0-0.58) compared w

  4. Beneficios de la terapia con hidroxiúrea en niños con anemia de células falciformes = Benefits of hidroxyurea therapy in children with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Donado Gómez, Jorge Hernando

    2012-04-01

    Full Text Available Objetivo: describir la toxicidad y los beneficios de la hidroxiúrea (HU en el tratamiento de niños con anemia de células falciformes (ACF.Materiales y métodos: estudio observacional descriptivo-retrospectivo de pacientes con ACF tratados con HU en el Hospital Pablo Tobón Uribe (HPTU de Medellín, Colombia, entre mayo de 2004 y septiembre de 2009. Se trató con este medicamento a 16 pacientes menores de 15 años, 11 de ellos (68,8% de sexo masculino. Todos los pacientes tenían anemia falciforme (Hb SS. Las variables se estudiaron antes y después del inicio de la HU. Resultados: se encontró una media de crisis dolorosas por ACF de 3,31 antes y 1,13 después de la HU (p = 0,006; la media de la necesidad de transfundir glóbulos rojos fue de 2,69 antes y 0,75 después (p = 0,112; los episodios de síndrome torácico agudo (STA tuvieron una media de 0,19 antes y 0,13 después (p = 0,705; la media de la necesidad de hospitalización por ACF fue de 1,94 antes y 1,06 después de la HU (p = 0,155. Un paciente (6,3% presentó toxicidad hematológica y dos (12,5% tuvieron toxicidad hepática, pero no hubo casos de toxicidad renal; tres pacientes (18,8% presentaron accidentes cerebrovasculares. No se encontraron neoplasias. Conclusión: la HU redujo significativamente la frecuencia de crisis dolorosas en los pacientes con ACF. La toxicidad fue en general aceptable. Se requieren estudios prospectivos, multicéntricos, doble ciego, controlados con placebo, para definir el papel de la HU en pacientes pediátricos.

  5. Oral health-related quality of life of children and teens with sickle cell disease

    OpenAIRE

    2016-01-01

    ABSTRACT BACKGROUND: Children with sickle cell disease may have their quality of life affected by oral alterations. However, there is still little data on oral health-related quality of life in these children. The aim of this study was to investigate the influence of sickle cell disease, socioeconomic characteristics, and oral conditions on oral health-related quality of life of children and teens. METHOD: One hundred and six children and teens with sickle cell disease were compared to a ...

  6. Prevalence of Sickle Cell Trait in the Southern Suburb of Beirut, Lebanon

    OpenAIRE

    El Ariss, Abdel Badih; Younes, Mohamad; Matar, Jad; Berjaoui, Zeina

    2016-01-01

    Objective The objective of this study was to assess the prevalence, gender differences, and time trends of Sickle Cell Trait in the Southern Suburb of Beirut, Lebanon, as well as to highlight the importance of screening for Sickle Cell Trait carriers in this population. Another objective was to describe a new screening technique for Sickle Cell Trait carriers. Methods This was a retrospective cohort study carried out at a private laboratory in the Southern Suburb of Beirut, Lebanon between 20...

  7. [Vestibular neuronitis in a teenager with sickle cell disease. Treatment is urgent].

    Science.gov (United States)

    Runel-Belliard, C; Lesprit, E; Quinet, B; Wiener-Vacher, S; Saizou, C; Grimprel, E

    2008-09-01

    Vestibular syndrome is not frequently described in patients with sickle cell disease. We report the case of a teenager with sickle cell disease who had a vestibular syndrome with vertigo that successfully responded to exchange transfusion. We discuss guidelines and review the literature in view of this case report. Sensorineural disorders should be considered as stroke syndromes. They require urgent treatment consisting of exchange transfusion or maintaining optimal hydration associated with blood withdrawal. Treatment of vestibular syndrome in sickle cell disease is urgent.

  8. MR marrow signs of iron overload in transfusion-dependent patients with sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Levin, T.L. [Department of Pediatric Radiology, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, New York, NY (United States); Sheth, S.S. [Department of Pediatrics, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, 3959 Broadway, New York, NY 10032 (United States); Hurlet, A. [Department of Pediatrics, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, 3959 Broadway, New York, NY 10032 (United States); Comerci, S.C. [Department of Pediatric Radiology, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, New York, NY (United States); Ruzal-Shapiro, C. [Department of Pediatric Radiology, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, New York, NY (United States); Piomelli, S. [Department of Pediatrics, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, 3959 Broadway, New York, NY 10032 (United States); Berdon, W.E. [Department of Pediatric Radiology, Babies and Children`s Hospital, Columbia-Presbyterian Medical Center, New York, NY (United States)

    1995-11-01

    Magnetic resonance (MR) marrow signal in the axial and appendicular skeleton of 13 transfusion-dependent and chelated pediatric patients with sickle cell anemia (SSD) was compared with marrow signal in six non-transfusion-dependent patients with SSD. Hepatic, pancreatic, and renal MR signal were also evaluated. Indication for hypertransfusion therapy was primarily prior history of stroke. Transfusion-dependent patients had evidence of iron deposition throughout the imaged marrow and the liver, despite deferoxamine chelation therapy. Non-transfusion-dependent patients did not demonstrate grossly apparent signs of iron overload. Red marrow restoration was present in the spine, pelvis, and long bones and, in some patients, within the epiphyses. Marrow edema secondary to vaso-occlusive crises was evident in the metaphyses and diaphyses of long bones in areas of both red and fatty marrow and was best seen using fat-saturated T2-weighted imaging techniques. (orig.). With 4 figs., 2 tabs.

  9. The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease

    Directory of Open Access Journals (Sweden)

    F. Moreira Neto

    2006-10-01

    Full Text Available Sickle cell disease (SCD is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the presence of the factor V gene G1691A mutation (factor V Leiden, the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR C677T polymorphism may be risk factors for vascular complications in individuals with SCD. We studied 53 patients with SCD (60% being women, 29 with SS (sickle cell anemia; 28 years, range: 13-52 years and 24 with SC (sickle-hemoglobin C disease; 38.5 years, range: 17-72 years hemoglobinopathy. Factor V Leiden, MTHFR C677T polymorphism, and prothrombin G20210A variant were identified by PCR followed by further digestion of the PCR product with specific endonucleases. The following vascular complications were recorded: stroke, retinopathy, acute thoracic syndrome, and X-ray-documented avascular necrosis. Only one patient was heterozygous for factor V Leiden (1.8% and there was no prothrombin G20210A variant. MTHFR 677TT polymorphism was detected in 1 patient (1.8% and the heterozygous form 677TC was observed in 18 patients (34%, 9 with SS and 9 with SC disease, a prevalence similar to that reported by others. No association was detected between the presence of the MTHFR 677T allele and other genetic modulation factors, such as alpha-thalassemia, ß-globin gene haplotype and fetal hemoglobin. The presence of the MTHFR 677T allele was associated with the occurrence of vascular complications in SCD, although this association was not significant when each complication was considered separately. In conclusion, MTHFR C677T polymorphism might be a risk factor for vascular complications in SCD.

  10. Labyrinthitis ossificans in a child with sickle cell disease: CT and MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Benjamin P. [Boston University School of Medicine, Department of Radiology, Boston Medical Center, Boston, MA (United States); Northwestern University, Section of Neuroradiology, Feinberg School of Medicine, Chicago, IL (United States); Saito, Naoko; Wang, Jimmy J.; Mian, Asim Z.; Sakai, Osamu [Boston University School of Medicine, Department of Radiology, Boston Medical Center, Boston, MA (United States)

    2009-09-15

    The association between sensorineural hearing loss and sickle cell disease has been described, and labyrinthine hemorrhage has been reported with sickle cell disease. We report the CT and MRI findings of labyrinthitis ossificans in a child with sickle cell disease who presented with sensorineural hearing loss. Labyrinthitis ossificans is associated with an infectious, inflammatory, or destructive insult to the membranous labyrinth; however, it has not been specifically described with sickle cell disease. Recognition of this condition is important because it affects both management and prognosis of this disease. (orig.)

  11. Orbital wall infarction in child with sickle cell disease.

    Science.gov (United States)

    Janssens, C; Claeys, L; Maes, P; Boiy, T; Wojciechowski, M

    2015-12-01

    We present the case of a 17-year-old boy, known with homozygous sickle cell disease, who was admitted because of generalised pain. He developed bilateral periorbital oedema and proptosis, without pain or visual disturbances. In addition to hyperhydration, oxygen and analgesia IV antibiotics were started, to cover a possible osteomyelitis. Patients with sickle cell disease are at risk for vaso-occlusive crises, when the abnormally shaped red blood cells aggregate and block the capillaries. Such a crisis typically presents at a location with high bone marrow activity, as the vertebrae and long bones. At an early age, the bone marrow is still active at other sites, for example the orbital wall, and thus infarction can also occur there. Thus, in young persons with sickle cell disease, it is important to consider orbital wall infarction in the differential diagnosis, since the approach is different from osteomyelitis. If the disease is complicated by an orbital compression syndrome, corticosteroids or surgical intervention may be necessary to preserve the vision. In our patient, an MRI of the orbitae demonstrated periorbital oedema with bone anomalies in the orbital and frontal bones, confirming orbital wall infarction. Ophthalmological examination revealed no signs of pressure on the nervus opticus. The patient recovered gradually with conservative treatment.

  12. N-acetylcysteine reduces oxidative stress in sickle cell patients.

    Science.gov (United States)

    Nur, Erfan; Brandjes, Dees P; Teerlink, Tom; Otten, Hans-Martin; Oude Elferink, Ronald P J; Muskiet, Frits; Evers, Ludo M; ten Cate, Hugo; Biemond, Bart J; Duits, Ashley J; Schnog, John-John B

    2012-07-01

    Oxidative stress is of importance in the pathophysiology of sickle cell disease (SCD). In this open label randomized pilot study the effects of oral N-acetylcysteine (NAC) on phosphatidylserine (PS) expression as marker of cellular oxidative damage (primary end point), and markers of hemolysis, coagulation and endothelial activation and NAC tolerability (secondary end points) were studied. Eleven consecutive patients (ten homozygous [HbSS] sickle cell patients, one HbSβ(0)-thalassemia patient) were randomly assigned to treatment with either 1,200 or 2,400 mg NAC daily during 6 weeks. The data indicate an increment in whole blood glutathione levels and a decrease in erythrocyte outer membrane phosphatidylserine exposure, plasma levels of advanced glycation end-products (AGEs) and cell-free hemoglobin after 6 weeks of NAC treatment in both dose groups. One patient did not tolerate the 2,400 mg dose and continued with the 1,200 mg dose. During the study period, none of the patients experienced painful crises or other significant SCD or NAC related complications. These data indicate that N-acetylcysteine treatment of sickle cell patients may reduce SCD related oxidative stress.

  13. Intervenções de enfermagem durante crises álgicas em portadores de Anemia Falciforme Intervenciones de enfermería durante las crisis de dolor en portadores de Anemía Falciforme Nursing interventions for patients with Sickle Cell during pain crisis

    Directory of Open Access Journals (Sweden)

    Dária Guedes da Silva

    2007-06-01

    Full Text Available A anemia falciforme é a doença genética mais comum em nosso país. As complicações por ela geradas resultam em crises dolorosas de difícil controle. Considerando este contexto, o presente artigo tem como objetivo evidenciar quais ações e intervenções podem ser realizadas pela equipe de enfermagem a fim de minimizar a dor nesses pacientes. Foi realizada uma revisão de literatura com pesquisa nas Bases de dados LILACS, BDENF e SciELO. Os achados revelaram que é necessário ao enfermeiro conhecimento dos processos fisiológicos e da dor, bem como os fatores desencadeantes das crises. A atuação do profissional de enfermagem visa afastar esses fatores desencadeantes de crises, a orientação e educação do paciente e focar onde ocorre a dor, aplicando a intervenção necessária a cada situação.La anemia falciforme es la más comun enfermedad genética en Brasil. Sus complicaciones resultan en crisis de dolor sin controle. Al considerar esto contexto, esto artículo objectivó evidenciar las acciones e intervenciones de enfermería que pueden minimizar la dolor del paciente. Una revisión bibliográfica fue empleada en las basis de datos bibliográficos LILACS, BEDENF y SciELO. Los hallazgos han demonstrado que es necesário para el enfermero tener conocimiento suficiente sobre el proceso fisiológico de la dolor así como de los factores desencadeantes de las crisis. La actuación del profesional de enfermería tiene como objectivo afastar los factores desencadeantes, la orientación y educación del paciente y focar en la ocurencia del dolor, aplicando la intervención necesaria a cada situación.Sickle cell is the most common genetic disease in Brazil. Its complications result in out of control painful crisis. In considering this context, this article aimed at evidencing what nursing actions or interventions can be carried out to minimize those patients' pain. A bibliographic research was carried out in LILACS, BDENf and Sci

  14. Fetal Haemoglobin and β-globin Gene Cluster Haplotypes among Sickle Cell Patients in Chhattisgarh

    OpenAIRE

    Bhagat, Sanjana; Patra, Pradeep Kumar; Thakur, Amar Singh

    2013-01-01

    Background: Foetal Haemoglobin (HbF) is the best-known genetic modulator of sickle cell anaemia, which varies dramatically in concentration in the blood of these patients. The patients with SCA display a remarkable variability in the disease severity. High HbF levels and the β-globin gene cluster haplotypes influence the clinical presentation of sickle cell disease. To identify the genetic modifiers which influence the disease severity, we conducted a β-globin haplotype analysis in the sickle...

  15. Overview of chelation recommendations for thalassaemia and sickle cell disease

    Directory of Open Access Journals (Sweden)

    Banu Kaya

    2014-12-01

    Full Text Available The long term consequences of iron toxicity are mostly reversible with effective iron chelation therapy. Recommendations for use of chelation therapy in transfusion dependent thalassaemia (TDT, sickle cell disease (SCD and non transfusion dependent thalassaemia (NTDT continue to evolve as our knowledge and clinical experience increases. Improved chelation options including drug combinations and a better understanding of condition specific factors may help to improve efficiency of chelation regimens and meet the needs of patients more effectively.

  16. Morphological and functional platelet abnormalities in Berkeley sickle cell mice.

    Science.gov (United States)

    Shet, Arun S; Hoffmann, Thomas J; Jirouskova, Marketa; Janczak, Christin A; Stevens, Jacqueline R M; Adamson, Adewole; Mohandas, Narla; Manci, Elizabeth A; Cynober, Therese; Coller, Barry S

    2008-01-01

    Berkeley sickle cell mice are used as animal models of human sickle cell disease but there are no reports of platelet studies in this model. Since humans with sickle cell disease have platelet abnormalities, we studied platelet morphology and function in Berkeley mice (SS). We observed elevated mean platelet forward angle light scatter (FSC) values (an indirect measure of platelet volume) in SS compared to wild type (WT) (37+/-3.2 vs. 27+/-1.4, mean+/-SD; p<0.001), in association with moderate thrombocytopenia (505+/-49 x 10(3)/microl vs. 1151+/-162 x 10(3)/microl; p<0.001). Despite having marked splenomegaly, SS mice had elevated levels of Howell-Jolly bodies and "pocked" erythrocytes (p<0.001 for both) suggesting splenic dysfunction. SS mice also had elevated numbers of thiazole orange positive platelets (5+/-1% vs. 1+/-1%; p<0.001), normal to low plasma thrombopoietin levels, normal plasma glycocalicin levels, normal levels of platelet recovery, and near normal platelet life spans. Platelets from SS mice bound more fibrinogen and antibody to P-selectin following activation with a threshold concentration of a protease activated receptor (PAR)-4 peptide compared to WT mice. Enlarged platelets are associated with a predisposition to arterial thrombosis in humans and some humans with SCD have been reported to have large platelets. Thus, additional studies are needed to assess whether large platelets contribute either to pulmonary hypertension or the large vessel arterial occlusion that produces stroke in some children with sickle cell disease.

  17. Pica in children with sickle cell disease: two case reports.

    Science.gov (United States)

    O'Callaghan, Erin T; Gold, Jeffrey I

    2012-12-01

    Children with sickle cell disease (SCD) are at greater risk for developing pica compared to other children. This comorbidity can result in harmful medical and nutritional, and neurodevelopmental consequences. This article will describe the medical, nutritional, and psychosocial functioning in two children with SCD and pica in order to illustrate the potential complications and correlates of this co-morbidity. In addition, the clinical implications of pica in children with SCD will be discussed.

  18. Sickle cell disease: challenges and advances in drug discovery

    OpenAIRE

    Jean Leandro dos Santos; Chung Man Chin

    2012-01-01

    Sickle Cell Disease (SCD) is a disease characterized by a punctual mutation (GTG - GAG) in the sixth codon of the gamma globin gene leading to a substitution of glutamic acid by a valine in the β chain of hemoglobin. Despite the huge progress on the molecular knowledge of the disease in recent years, few therapeutic resources were developed. Currently, the treatment is mainly done with the anticancer agent hydroxyurea. This review summarizes current knowledge about possible targets and n...

  19. Globin gene transfer for treatment of the beta-thalassemias and sickle cell disease.

    Science.gov (United States)

    Sadelain, Michel; Rivella, Stefano; Lisowski, Leszek; Samakoglu, Selda; Rivière, Isabelle

    2004-09-01

    The beta-thalassemias and sickle cell disease are severe congenital anemias that are caused by mutations that alter the production of the beta chain of hemoglobin. Allogeneic hematopoietic stem cell (HSC) transplantation is curative, but this therapeutic option is not available to the majority of patients. The transfer of a functional globin gene in autologous HCSs thus represents a highly attractive alternative treatment. This strategy, simple in principle, raises major challenges in terms of controlling the expression of the globin transgene, which ideally should be erythroid specific, differentiation-stage restricted, elevated, position independent, and sustained over time. Using lentiviral vectors, we have demonstrated that an optimised combination of proximal and distal transcriptional control elements permits lineage-specific, elevated expression of the beta-globin gene, resulting in therapeutic hemoglobin production and correction of anemia in beta-thalassemic mice. Several groups have now confirmed and extended these findings in various mouse models of severe hemoglobinopathies, thus generating enthusiasm for a genetic treatment based on globin gene transfer. Furthermore, globin vectors represent a general paradigm for the regulation of transgene function and the improvement of vector safety by restricting transgene expression to the differentiated progeny within a single lineage, thereby reducing the risk of activating oncogenes in hematopoietic progenitors. Here we review the principles underlying the genesis of regulated vectors for stem cell therapy.

  20. 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.

  1. Acute clinical events in 299 homozygous sickle cell patients living in France. French Study Group on Sickle Cell Disease.

    Science.gov (United States)

    Neonato, M G; Guilloud-Bataille, M; Beauvais, P; Bégué, P; Belloy, M; Benkerrou, M; Ducrocq, R; Maier-Redelsperger, M; de Montalembert, M; Quinet, B; Elion, J; Feingold, J; Girot, R

    2000-09-01

    A subset of 299 patients with homozygous sickle cell anaemia, enrolled in the cohort of the French Study Group on sickle cell disease (SCD), was investigated in this study. The majority of patients were children (mean age 10.1 +/- 5.8 yr) of first generation immigrants from Western and Central Africa, the others originated from the French West Indies (20.2%). We report the frequency of the main clinical events (mean follow-up 4.2 +/- 2.2 yr). The prevalence of meningitis-septicaemia and osteomyelitis was, respectively, 11.4% and 12% acute chest syndrome was observed in 134 patients (44.8%). Twenty patients (6.7%) developed stroke with peak prevalence at 10-15 yr of age. One hundred and seventy-two patients (58%) suffered from one or more painful sickle cell crises, while the others (42.5%) never suffered from pain. The overall frequency of acute anaemic episodes was 50.5%, (acute aplastic anaemia 46%; acute splenic sequestration 26%). A group of 27 patients were asymptomatic (follow-up > 3 yr). Epistatic mechanisms influencing SCD were studied. Coinherited alpha-thalassemia strongly reduced the risk of stroke (p haplotype strongly reflects the geographic origin and identifies subgroups with a homogenous genetic background. Thus the observed effects might result more from differences in as yet unidentified determinants in the genetic background than from the direct linkage with differences in the beta-globin gene locus.

  2. Proceedings of a Sickle Cell Disease Ontology workshop - Towards the first comprehensive ontology for Sickle Cell Disease.

    Science.gov (United States)

    Mulder, Nicola; Nembaware, Victoria; Adekile, Adekunle; Anie, Kofi A; Inusa, Baba; Brown, Biobele; Campbell, Andrew; Chinenere, Furahini; Chunda-Liyoka, Catherine; Derebail, Vimal K; Geard, Amy; Ghedira, Kais; Hamilton, Carol M; Hanchard, Neil A; Haendel, Melissa; Huggins, Wayne; Ibrahim, Muntaser; Jupp, Simon; Kamga, Karen Kengne; Knight-Madden, Jennifer; Lopez-Sall, Philomène; Mbiyavanga, Mamana; Munube, Deogratias; Nirenberg, Damian; Nnodu, Obiageli; Ofori-Acquah, Solomon Fiifi; Ohene-Frempong, Kwaku; Opap, Kenneth Babu; Panji, Sumir; Park, Miriam; Pule, Gift; Royal, Charmaine; Sangeda, Raphael; Tayo, Bamidele; Treadwell, Marsha; Tshilolo, Léon; Wonkam, Ambroise

    2016-06-01

    Sickle cell disease (SCD) is a debilitating single gene disorder caused by a single point mutation that results in physical deformation (i.e. sickling) of erythrocytes at reduced oxygen tensions. Up to 75% of SCD in newborns world-wide occurs in sub-Saharan Africa, where neonatal and childhood mortality from sickle cell related complications is high. While SCD research across the globe is tackling the disease on multiple fronts, advances have yet to significantly impact on the health and quality of life of SCD patients, due to lack of coordination of these disparate efforts. Ensuring data across studies is directly comparable through standardization is a necessary step towards realizing this goal. Such a standardization requires the development and implementation of a disease-specific ontology for SCD that is applicable globally. Ontology development is best achieved by bringing together experts in the domain to contribute their knowledge. The SCD community and H3ABioNet members joined forces at a recent SCD Ontology workshop to develop an ontology covering aspects of SCD under the classes: phenotype, diagnostics, therapeutics, quality of life, disease modifiers and disease stage. The aim of the workshop was for participants to contribute their expertise to development of the structure and contents of the SCD ontology. Here we describe the proceedings of the Sickle Cell Disease Ontology Workshop held in Cape Town South Africa in February 2016 and its outcomes. The objective of the workshop was to bring together experts in SCD from around the world to contribute their expertise to the development of various aspects of the SCD ontology.

  3. Thinking beyond sickling to better understand pain in sickle cell disease.

    Science.gov (United States)

    Darbari, Deepika S; Ballas, Samir K; Clauw, Daniel J

    2014-08-01

    Painful vaso-occlusive crises (VOCs) are the hallmark of sickle cell disease (SCD); however, many patients experience frequent daily pain that does not follow the pattern of typical VOCs. This pain of variable severity, also referred as persistent pain in the SCD literature, contributes to significant morbidity and poor quality of life and often fails to respond adequately to standard SCD therapies. In this article, we briefly describe types of pain encountered in SCD with a special emphasis on persistent pain. We discuss altered pain processing as a potential contributing mechanism, which may lead to development and maintenance of persistent pain. We describe the advances in the non-SCD pain field that may help improve the understanding of SCD pain. We highlight the need for further investigation in this area because some of these patients with persistent pain may benefit from receiving adjuvant mechanism-based therapies used successfully in other non-SCD chronic pain conditions.

  4. Gravidez e contracepção na doença falciforme Pregnancy and contraception in sickle cell disease

    Directory of Open Access Journals (Sweden)

    Angela Maria D. Zanette

    2007-09-01

    Full Text Available A contracepção hormonal na doença falciforme é considerada atualmente uma forma segura de diminuir o risco de uma gestação indesejada e/ou de planejar a prole das pacientes acometidas pela doença. Na doença falciforme, a gestação é uma situação de risco materno-fetal elevado, necessitando abordagem multidisciplinar, com o objetivo de reduzir as conseqüências danosas da anemia hemolítica crônica e da vaso-oclusão, típicas da doença. Nesse artigo são abordados os principais aspectos relacionados à contracepção e à gestação em pacientes com doença falciforme, com um panorama atualizado em relação a ambos os temas.For women with sickle cell disease , hormonal contraception is an acceptable and reliable method of decreasing the risk of unwanted pregnancies. The use of combined oral contraceptives is considered safe in this group of patients according to the World Health Organization criteria. Medroxyprogesterone acetate is considered the safest hormonal contraceptive in sickle cell disease. Pregnancy carries increased risks of complications for woman as well as to the fetus, such as higher frequency of painful crises, spontaneous abortions, intrauterine growth retardation and higher neonatal mortality. Multidisciplinary teams are needed to manage pregnancy in sickle cell disease. The purpose of this article is to review some important aspects related to hormonal contraception and pregnancy in sickle cell disease.

  5. Comparison of Emergency Department Wait Times in Adults with Sickle Cell Disease Versus Other Painful Etiologies.

    Science.gov (United States)

    Pulte, Dianne; Lovett, Paris B; Axelrod, David; Crawford, Albert; McAna, John; Powell, Rhea

    2016-09-01

    Sickle cell disease is characterized by intermittent painful crises often requiring treatment in the emergency department (ED). Past examinations of time-to-provider (TTP) in the ED for patients with sickle cell disease demonstrated that these patients may have longer TTP than other patients. Here, we examine TTP for patients presenting for emergency care at a single institution, comparing patients with sickle cell disease to both the general population and to those with other painful conditions, with examination of both institutional and patient factors that might affect wait times. Our data demonstrated that at our institution patients with sickle cell disease have a slightly longer average TTP compared to the general ED population (+16 min.) and to patients with other painful conditions (+4 min.) However, when confounding factors were considered, there was no longer a significant difference between TTP of patients with sickle cell disease and the general population nor between patients with sickle cell disease and those with other painful conditions. Multivariate analyses demonstrated that gender, race, age, high utilizer status, fast track use, time of presentation, acuity and insurance type, were all independently associated with TTP, with acuity, time of presentation and use of fast track having the greatest influence. We concluded that the longer TTP observed in patients with sickle cell disease can at least partially be explained by institutional factors such as the use of fast track protocols. Further work to reduce TTP for sickle cell disease and other patients is needed to optimize care.

  6. Newborn screening for sickle cell disease in Jamaica: logistics and experience with umbilical cord samples.

    Science.gov (United States)

    Serjeant, G R; Serjeant, B E; Mason, K P; Gardner, R; Warren, L; Gibson, F; Coombs, M

    2017-01-01

    The study aims to describe the logistics and results of a programme for newborn screening for sickle cell disease based on samples from the umbilical cord. Samples were dried on Guthrie cards and analysed by high pressure liquid chromatography. All suspected clinically significant abnormal genotypes were confirmed by age 4-6 weeks with family studies and then recruited to local sickle cell clinics. The programme has screened 66,833 samples with the sickle cell trait in 9.8 % and the HbC trait in 3.8 %. Sickle cell syndromes occurred in 407 babies (204 SS, 148 SC, 35 Sbeta(+) thalassaemia, 6