![]() | Only 14 pages are availabe for public view |
Abstract Background: Hepcidin encoded by HAMP gene plays a key role in modulating iron absorption in β-thalassemia. Hepcidin deficiency due to either mutations in HFE gene encoding the hemochromatosis protein (HFE) or in the HAMP gene have been implicated in iron overload. Objectives: A case-control study aimed to verify the influence of G71D of HAMP gene and H63D of HFE gene variants on iron overload in β- thalassemia major patients. Material & Methods: A total of 52 β- thalassemia major patients and 46 healthy control subjects were screened for the H63D and G71D mutations by polymerase chain reactionrestriction fragment-length polymorphism (PCR-RFLP). Estimation of iron overload was based on serum iron, TIBC, ferritin and transferrin saturation. Results: Among the studied patients, 30 (57.7%) carried the wild-type profile, 13 (25%) carried G71D mutation of HAMP gene, 12 (23.1%) carried the H63D mutation of HFE gene and 3 (5.8%) carried both mutations. Both HAMP-G71D and HFE-H63D mutations observed among patients were in the heterozygous condition. Patients with either HAMP-G71D or HFE-H63D variants did not show significant difference in iron overload parameters in relation to wild-type patients. Conclusion: The G71D mutation of HAMP gene and H63D mutation of HFE gene are common among β-thalassemia major patients. Neither the HAMP-G71D mutation nor the HFE-H63D mutation is a major determinant of total body iron status in patients with β-thalassemia major. Keywords: HAMP-G71D, HFE-H63D, β-thalassemia major and iron overload. I List |