Background: Beta-thalassemia major (TDT) is a hereditary
blood disease marked by a severe case of anaemia and the
requirement for regular red blood cell transfusions. Iron
overload resulting from transfusions and inefficient iron
chelation therapy poses a significant challenge in managing
these patients. Hepcidin polymorphisms may contribute to
variations in iron homeostasis and susceptibility to iron
overload. Objective: To examine the correlation between
Hepcidin gene polymorphism (C.-582A>G) and Iron overload
in patients with TDT who are unresponsive to iron chelating
treatment. Methods: This case-control study included 50
patients with TDT receiving regular iron chelation therapy and
50 healthy subjects matched for age and socioeconomic status as
the control group had been genotyped for the Hepcidin gene
variants (C.-582A>G) and were analyzed using the RFLP-PCR
technique. Results: All results statistically analyzed and
tabulated in the study. Conclusions: Hepcidin gene
polymorphism (C.-582A>G) is correlated with iron overload in
refractory TDT patients. The GG genotype shows an elevation
in serum iron and ferritin levels in contrast to the AA/AG
genotypes, along with a significant reduction in hemoglobin and mean corpuscular volume
(MCV) levels. Despite chelation treatment, Iron overload is still considered as a major
complication of thalassemia. |
