Effect of bacterial infection on hepcidin level and its gene polymorphism in β-thalassemia major patients in Erbil province/Kurdistan

Background: β-thalassemia major, a genetic disorder causing chronic anemia and iron overload, often leads to dysregulated hepcidin, a key iron regulator. Bacterial infections, common in these patients, may alter hepcidin expression. Object: This study aims to assess the impact of bacterial infections on serum hepcidin levels and related HAMP (rs10421768 C-582A > G) in patients with β-thalassemia major. Method: This was a cross-sectional study with prospective data collection from August to December 2024. The study included two groups: cases, consisting of patients with β-thalassemia major at the Erbil Thalassemia Center, and controls, consisting of healthy individuals unrelated to the case group. Hepcidin levels were determined using a sandwich ELISA (enzyme-linked immunosorbent assay). Bacterial identification was performed on a urine sample using the VITEK 2 system. Additionally, a genetic test was conducted using ARMS-PCR. Data were analyzed using GraphPad Prism 9.0 with t-tests for group comparison and chi-square tests for genotype distribution. Result: In 100 β-thalassemia major patients, mean hepcidin levels were higher in those with bacterial infection (62.15 ± 6.676 ng/mL) than in non-infected patients (54.65 ± 5.286 ng/mL). Gram-negative bacteria (52.55%) were more common, with Escherichia coli being most prevalent (31.5%). The HAMP gene polymorphism (rs10421768 C-582A > G) was most frequently observed as the GA genotype, which showed differences in serum hepcidin levels between healthy and thalassemia patients. Conclusion: Hepcidin levels in β-thalassemia major patients are influenced by both bacterial infections, especially Gram-negative bacteria, and HAMP (rs10421768 C.-582A>G) gene polymorphism, underscoring the combined role of genetic and infection factors in iron regulation