OBJECTIVE Thalassemia is one of the most common genetic disorders worldwide. Cap +1 mutation which causes 'silent beta thalassemia' is present around all ethnic groups of Pakistan. This study was designed to detect the frequency of Cap+1 mutation in Pakistani Population. METHODS Molecular genetic for Cap+1 beta thalassemic mutation was done by extracting DNA from whole blood by using Genomic ...

In this study we determined the levels of circulating soluble transferrin receptor (sTfR) in six untransfused and two transfused patients affected by beta-thalassemia intermedia during low-dose rHuEPO administration. While the majority of the untransfused patients showed a temporary increment during the first month of treatment, a higher and enduring increase in sTfR concentration was observed ...

Patients with thalassemia major are considered to have high erythropoietin (Epo) activity.' However, Hammond et a1 reported that thalassemic patients had much less serum Epo activity compared with patients with hypoplastic anemia.* Determination of serum Epo levels in 32 patients from our clinic with homozygous p-thalassemia major and intermedia showed that Epo activity was not significantly hi...

BACKGROUND Thalassemia intermedia patients usually do not require blood transfusions; however, all show variable degrees of erythropoietic marrow expansion to compensate for more or less marked anemia, and this represents the major cause of complications in untransfused individuals. MATERIALS AND METHODS To assess the degree of erythropoietic expansion in thalassemia intermedia, serum erythro...

Thalassemia intermedia is a genetically diverse group of diseases that is the result of an imbalance in the production of the alpha and beta chains with ensuing chronic hemolysis, ineffective erythropoiesis, and iron overload. Resulting complications include bone changes, hypercoagulability, and end-organ damage due to iron overload. This decade has witnessed major breakthroughs in the manageme...

In this study, we aimed to determine the frequency of red cell allo- and autoimmunization and analyze the factors responsible for the development of antibodies in patients with transfusion-dependent thalassemia. This crosssectional study was conducted on 139 patients with thalassemia major and intermedia who received leukodepleted RBC transfusions on a regular basis. Patients with a positive an...

BACKGROUND AND OBJECTIVE Reduced serum or erythrocyte Mg have been reported in human beta thalassemia. These deficiencies may play a role in the cellular abnormalities characteristic of this disorder. We have therefore studied the effect of dietary Mg supplementation in patients with beta thalassemia intermedia in order to establish whether it improves the abnormalities of thalassemic erythrocy...

Advances in the care of patients with thalassemia, sickle cell disease, and other hemolytic disorders through early detection, education, improvements in red cell transfusion and iron chelation therapy, penicillin prophylaxis, vaccination, and hydroxyurea therapy have led to a significant prolongation of the life expectancy of such patients. As this patient population ages, new chronic complica...

3. Taher A, Isma'eel H, Cappellini MD. Thalassemia intermedia: revisited. Blood Cells Mol Dis 2006;37:12-20. 4. Huehns ER, Dance N, Beaven GH, Heclht F, Motulsky AG. Human embryonic hemoglobins. Cold Spring Harb Symp Quant Biol 1964;29:327-31. 5. Villegas A, Ropero P, González FA, Anguita E, Espinós D. The thalassemia syndromes: molecular characterization in the Spanish population. Hemoglobin 2...