Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan.

Background Hepcidin and hemochromatosis (HFE) are iron regulatory proteins that are encoded byHAMPandHFEgenes. Mutation in eitherHAMPgene orHFEgene causes Hepcidin protein deficiency that can lead to iron overload in beta thalassemia patients. The aim of this research work was to study the presence of G71D mutation ofHAMPgene and H63D mutation ofHFEgene in beta thalassemia major and minor group to check the association of these mutations with serum ferritin level of beta thalassemia patients. Methods The study was conducted on 42 beta thalassemia major and 20 beta thalassemia minor samples along with 20 control samples. The genotyping of both mutations has done by ARM-PCR technique with specific set of primers. Results Significant effect of G71D and H63D mutations was observed on serum ferritin level of thalassemia major group. The risk allele ofHAMPG71D andHFEH63D was found with high frequency (48% and 49%, respectively) in beta thalassemia major than in control group. High genotypic frequency ofHAMPandHFEgene mutation gene mutation was observed in beta thalassemia major than beta thalassemia minor and control group (7% and 9%, respectively). Conclusion It can be concluded that bothHAMPandHFEgene mutations show high frequency in beta thalassemia major patients and mean significant association between mutations and high serum ferritin level of beta thalassemia major patients but the nonsignificant results of Odd ratios showed that both mutations do not act as major risk factor in beta thalassemia major.