Abstract

Objective: Thalassemia is an important hematological disorder. The possibility of iron overload development may be increase by Interaction between thalassemia and HFE gene mutations. This study aim to investigate the possible association between serum hepcidin level as indicator of iron concentration and the presence of HFE gene mutations.
Methods: The study contains two groups, group I: include seventy six children with beta thalassemia, group II include 51 apparently healthy gender and age matched children served as controls. Children was passed through full history taking, clinical examination. Complete blood picture, iron, ferritin, hepcidin, renal and liver functions were measured. HFE gene C282Y mutation was assayed by SNP real time PCR.
Results: Frequency of the A genotype and A allele of HFE gene C282Y mutation shows a significant increase in beta thalassemia group in comparison controls. Also, serum Iron and ferritin levels were significantly increase with decrease in hepcidin level in AA when compared to AG and GG genotypes. The splenectomy percent was significantly increased among AA genotype in the patient group. The number and % of patients with ferritin level equal or more than 2500 ng/ml and decrease in hepcidin level as an index of iron overload was significantly increase in patients with AA and AG genotypes.
Conclusion: There were significant negative associations between serum hepcidin levels as indication of iron toxicity and HFE C282Y mutation in Egyptian Beta thalassemia children.

Keywords: TM; Hepcidin; HFE; Mutation