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  • Title: [HFE gene mutations in Tunisian major beta-Thalassemia and iron overload].
    Author: Mellouli F, El Borgi W, Kaabi H, Ben Hassen E, Sassi R, Hmida H, Cherif G, Maamar M, Zouari B, Boukef K, Bejaoui M, Hmida S.
    Journal: Transfus Clin Biol; 2006 Dec; 13(6):353-7. PubMed ID: 17303462.
    Abstract:
    OBJECTIVES: In this study we have determined the allele frequency of HFE mutations H63D and C282Y in a group of Tunisian beta-thalassemia major patients. These two mutations are implicated in hereditary hemochromatosis among Caucasians. In this study we wanted to correlate these mutations with the iron status in major beta-thalassemia patients. DESIGN AND METHODS: Fifty Tunisian major beta-thalassemia were screening for the C282Y and H63D by digestion of polymerase chain reaction products (RFLP). Serum ferritin level was measured by immunoenzymatic microparticular essay. RESULTS: The allele frequency of H63D mutation was 17%. 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. CONCLUSION: Our results suggest that H63D mutation is so frequent in Tunisian 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.
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