Comparison between H63D and G71D gene mutation effects on iron overload in Iraqi patients with β‑thalassemia major: A case–control study

Abstract

BACKGROUND: Iron overload certainly will develop in β‑thalassemia major. Iron homeostasis wasmostly regulated by hepcidin that synthesized in the liver and encoded by the hepcidin antimicrobialpeptide (HAMP) gene. HAMP and HFE genes, respectively, encode iron‑regulating proteins (Hepcidinand HFE). The iron overload’s possibility will increase if there is an interaction between β‑thalassemiaand HAMP‑HFE gene mutations.AIM OF STUDY: In β‑thalassemia major patients, we need to identify mutations in iron‑regulatinggenes (HAMP and HFE genes), their impact on the iron overload, and their association with someclinicopathological parameters.PATIENTS AND METHODS: During a period of 5 months from (November 2020 to March 2021), acase–control study was conducted. It included 80 patients and controls aged ≥14 years and dividedinto two groups: thalassemic patient group included 40 patients who were diagnosed by completeblood count, blood film, and hemoglobin – electrophoresis as β‑thalassemia major and controlgroup included 40 unrelated, apparently healthy controls that were age and gender matched withthalassemic patient group. Complete blood count, liver and renal function tests, serum ferritin, andDNA extraction were performed.RESULTS: There was a statistically significant difference between study groups by H63D mutations.The proportion of CG genotype was significantly higher among thalassemic patient group than that incontrols. There was no statistically significant difference (P = 0.082) between study groups by G71Dmutations. Serum ferritin and Alanine transaminase (ALT) levels were significantly higher in patientswith CG and GG genotypes compared to that in patients with CC genotype of H63D.CONCLUSION: H63D is associated with iron overload in β‑thalassemia patients with unapparenteffect on biochemical and hematological data except for ALT and serum ferritin. This could allow earlydiagnosis and proper treatment to overcome the complications of iron overload in those patients.