Prevalence of the C282Y and H63D mutations of the HFE hemochromatosis gene in Azerian major β-thalassemia and iron overload

In this study, we have determined the allele frequency of HFE mutations H63D and C282Y in a group of Azerian beta-thalassemia major patients. These two mutations are implicated in hereditary hemochromatosis among Caucasians. In this study, we wanted to outbreak these mutations with the iron status in major beta-thalassemia patients. Sixty Azerian major beta-thalassemias were screening for the C282Y and H63D by digestion of polymerase chain reaction products (PCRP). Serum ferritin level was measured by enzyme-linked immunosorbent assay (ELISA). The allele frequency of H63D mutation was 20 %. C282Y mutation was not present in our studied patients. No statistically significant difference of serum ferritin level was found between major beta-thalassemia with and without HFE mutations. Our data suggest that H63D mutation is so frequent in Azerian major beta-thalassemia patients than in the general population and that the coinheritance of H63D mutation does not influence the severity of iron overload in these patients.
Source: Comparative Clinical Pathology - Category: Pathology Source Type: research

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