introduction: beta thalassemia is the most common inherited bloody disorder, affecting synthesis of the beta globin chain of hemoglobin. the type of β-thalassemia mutation affects on the β-globin chain synthesis that appears as β ° ، β + and β ++ -thalassemia. the presence of xmni polymorphic site at the 5 َ region of the g γ-globin gene affects on the rate of g γ chain synthesis and in some con...

Hemoglobin E interacts with beta-thalassemia to produce a disorder of variable severity that is the most common form of symptomatic thalassemia in Southeast Asia. The beta E-globin gene acts as a mild thalassemia gene; there are low levels of beta E-messenger RNA (mRNA) in reticulocytes, and preliminary evidence had suggested that this might be due to instability of the beta E-mRNA. Analysis of...

abstract background beta-thalassemia is a common hereditary hemoglobinopathy, which is a reason of microcytic hypochromic anemia. patients with major thalassemia require multiple blood transfusions. this study evaluated growth in thalassemic patient and relationship with ferritin level. materials and methods this is a cross sectional study on seventy patients (36 boys, 34girls) with transfusion...

Background: Hemoglobinopathies and betathalassemia is one of the most common autosomal disorders worldwide different molecular mechanisms, most of which are base substitution or small deletions or insertions of one or two nucleotides in the globin genes. It has been found that hemoglobinopathies and β-thalassemia mutations are relatively populations specific; each ethnic group has its own set o...

A pedigree was studied in which five individuals with beta-thalassemia minor were found to have nontransfusional hemochromatosis. Three were children under the age of 10 and two were young male adults, ages 28 and 33. A 5-yr-old child without evidence of thalassemia also had hemochromatosis. Since hemochromatosis is transmitted as an HLA-linked autosomal recessive disorder, HLA haplotypes serve...

hereby we report a patient with thalassemia major having extradural cord compression at t3-t9 levels due to a mass of extramedullary hematopoiesis (emh) tissue, whose treatment was successful with hypertransfusion therapy alone. the patient was a 23-year-old man who had not received regular blood transfusion since two years before admission. he suffered from paraparesis with a history of progre...

Background Patients with beta thalassemia suffer from increased susceptibility to infections and putridity plays a major role in the patient's morbidity and mortality. The risk of transfusion-transmitted viral infection is well known in these patients. However, there is dearth of information about the seroprevalence of herpes simplex virus (HSV) infection in patients with beta thalassem...

Beta-thalassemia is prevalent in Sri Lanka and imposes a heavy economic and social burden in the country due to the patients' life-long need for regular blood transfusion and treatment with iron chelation therapy. Thus, there is a need to develop a rapid, reliable and effective population-based presymptomatic and prenatal screening method for beta-thalassemia. Single-strand conformational polym...

In many Asian populations, the commonest form of severe thalassemia results from the coinheritance of HbE and beta thalassemia. The management of this disease is particularly difficult because of its extreme clinical diversity; although some genetic and adaptive factors have been identified as phenotypic modifiers, the reasons remain unclear. Because the role of the environment in the course of...

We have analyzed a cloned beta O-thalassemia (beta O-thal) gene from a patient doubly heterozygous for hemoglobin Lepore and beta O-thalassemia. Studies of 3H-uridine incorporation into beta-globin mRNA in this patient's erythroblasts suggested an intranuclear defect in both beta and Lepore (delta beta) mRNA synthesis, as did S1 nuclease analysis of nuclear RNA. However, the nucleotide sequence...