A Study of Hepcidin Gene Polymorphism in Beta Thalassemia Major Egyptian Patients Refractory to Iron Chelation

Noureldin Abdelrahman, Amira Mohamed; Ismail, Yasser Mahmoud; Saad, Wesal Mostafa; Elfallah, Asmaa Adel; ELAlfy, Amira

doi:10.21608/bmfj.2024.280890.2054

A Study of Hepcidin Gene Polymorphism in Beta Thalassemia Major Egyptian Patients Refractory to Iron Chelation

Document Type : Original Article

Authors

¹ Department of Clinical and chemical pathology -Faculty of Medicine, Benha University

² Department of clinical and chemical pathology - Faculty of Medicine - Benha University.

³ Department of Clinical Pathology-Faculty of Medicine- Benha University-Benha-Egypt.

⁴ Department of Clinical and Chemical Pathology-Faculty of Medicine -Benha University

⁵ Department of Internal Medicine-Faculty of Medicine, Benha University.

10.21608/bmfj.2024.280890.2054

Abstract

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.

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