Co-inheritance of hereditary hemochromatosis (HFE) gene variants p, C282Y and p. H63D worsen iron overload in transfusion-dependent thalassemia. This study investigated a total of 125 transfusion-dependent ß-thalassemia major and HbE/ß thalassemia patients and tested for the c.845G>A (p.C282Y) and c. 187C>G (p.H63D) HFE gene variants. The HFE gene variant p_C282Y is unlikely to cause iron overload in Asian ß-thalassernia patients; the rarity of this variant in our study cohort replicates the findings of other South Asian population studies of this variant The presence of the p.H63D variant could be a potential risk factor for iron overload in ß-thalassemia patients. A more extensive cohort study is required to validate this finding. 

Padmapani Padeniya, Hemali Goonasekara, Gayan Abeysekera, Rohan Jayasekara, Vajira Dissanayake

Frontiers in Pediatrics

Abstract:- https://doi.org/10.3389/fped.2022.890989