ArticleCureus2026
Effect of HFE Gene H63D and S65C Mutations on the Severity of Secondary Iron Overload in Children With β-Thalassemia Major.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 authors.
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Abstract
introductionCoinheritance of MATERIALS AND
methodsThis cross-sectional study included 76 Sudanese children with βTM who were all receiving regular blood transfusions and iron chelation therapy. Polymerase chain reaction and Sanger DNA sequencing were used to screen for H63D and S65C mutations. IO severity was assessed by measuring serum ferritin (SF) levels using electrochemiluminescence immunoassay.
resultsThe H63D mutation was identified in 17 (22.4%) of the thalassemic children; 16 (21.1%) were heterozygous, and one (1.3%) was homozygous. The S65C mutation was not present in any of the participants. SF levels were higher among carriers of the H63D variant allele (CG + GG) than among those with the wild-type allele (CC). Still, the difference was not statistically significant (median: 2051.0 vs. 1460.0 μg/L, p = 0.09). Furthermore, no statistically significant association was observed between the H63D mutation and the risk of myocardial iron loading (p = 0.087). The results revealed a statistically significant positive correlation between SF levels and the total number of blood transfusions (Spearman's ρ = 0.496, p < 0.001). A weak, positive, insignificant correlation was observed between SF levels and both the time since the last dose of iron chelation therapy (ρ = 0.257, p = 0.100) and C-reactive protein levels (ρ = 0.129, p = 0.267).
conclusionsThe frequency of the
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