Association of HFE Gene Mutations With Serum Ferritin Level and Heart and Liver Iron Overload in Patients With Transfusion-dependent Beta-Thalassemia.

Objective: This study was performed on patients with transfusion-dependent beta-thalassemia (TDT) to investigate the effect of HFE gene mutations of iron overload in a large group of patients with TDT major and its relationship with heart and liver T2* magnetic resonance imaging (MRI) level.

Materials And Methods: In a cross-sectional study, a total of 253 patients with TDT who had regular blood transfusion were included in this study. HFE gene mutations including H63D and C282Y were evaluated in all patients through molecular assay. Heart and liver T2* MRI results, types, duration of iron therapy, and the demographic data including age, gender, serum ferritin level, blood transfusion, and splenectomy history of the included participants were also collected, using a questionnaire.

Results: Homozygous and heterozygous H63D mutation was found in 39.5% of the patients and C282Y mutation was found only in 1 patient. Ferritin level was significantly higher in patients with H63D mutation in comparison with patients without this mutation (P=0.036). Although heart T2* MRI and also the liver T2* MRI in the patients with H63D was slightly higher, the difference was not statistically significant. No significant correlation was observed between serum ferritin level and heart and liver T2* MRI, and iron chelation regimen.

Discussion: Heart and liver iron overload was not significantly different between patients with and without H63D mutation. As for serum ferritin, it was significantly higher among patients with H63D mutation compared with patients without this mutation. Hence, it is recommended to consider HFE gene mutations among patients with thalassemia to reach a better iron overload evaluation and management.