Prevalence of common mutations of HFE gene in patients with beta thalassemia in HAMEDAN

Introduction: Hemacromatosis is an autosomal recessive disorder of iron metabolism. The HFE gene in this disorder has been identified on chromosome 6 (6p21.3). HFE gene mutations are the main cause of Hemochromatosis. Thalassemia patients are at risk of hemochromatosis because of blood transfusions. In this study, two common mutations of the HFE gene is presented among thalassemia patients.Material and Methods: In this study, 41 patients with β-thalassemia in Hamadan province were studied. DNA was extracted form blood samples. PCR-RFLP method was used to determine the common variants of HFE gene.Result: p.H63D polymorphism was detected in heterozygously in 8 patients and polymorphism p.C282Y was not seen in the studied patients.Discution and Conclusion: According to studies, it is likely that in Iran, H63D mutation is common, so their frequency in the healthy population of Iran should also be studied.

کلیدواژه ها:

Beta Thalassemia ، Hemochromatosis ، HFE ، H63D ، C282Y.