Effects of HAMP gene polymorphism on iron over load β-Thalassemia Iraqi patients

Backgrounds: β-Thalassemia is an inherited blood disorder. Thalassemia patients need repeatedblood transfusion which leads to iron overload. This study aims to investigate the possibleassociation between serum Hepcidin level and the presence of c–۵۸۲A>G polymorphism(rs۱۰۴۲۱۷۶۸) in the promoter of the HAMP gene which encoded HAMP protein or the effects ofthese gene's polymorphisms on iron overload in the thalassemia patients.Materials and Methods: This case-control study included ۲۰۰ blood samples (۱۰۰ patients and۱۰۰ controls). The patient was diagnosed with thalassemia syndrome patient was regularlyattending the hematology clinic in Thalassemia hematology center in Al Kut women &childrenHospital, either for transfusion and chelation and follow up of Hb level and iron status. The β-thalassemia diagnosis was based on clinical presentation, hematological indices, iron overload,and hemoglobin electrophoresis. Hepcidin levels along with iron parameters were measured,DNA was extracted from the blood cells and the polymorphisms were determined using PCRRFLP.Results: The genetic analysis of the SNP, for the HAMP gene by using the PCR-RFLP techniquethat there was a significant difference in genotype polymorphisms between patients and controlby using the same technique above.Conclusion: The polymorphism of the HAMP gene was associated with patients, but didn’timpact physiological parameters.

کلیدواژه ها:

β-Thalassemia ، Polymorphism ، HAMP Gene