Study of the effect of HFE gene mutations on iron overload in Egyptian thalassemia patients

Abstract EN

HFE gene mutations have been shown to be responsible for hereditary hemochromatosis.

Their effect on iron load in b-thalassemia patients and carriers remains controversial.

Objectives : We aimed to determine the prevalence of HFE gene mutations (C282Y and H63D) in b-thalassemia patients and carriers and to investigate its effect on their serum ferritin levels.

Patients and methods: A total of 100 b-thalassemia subjects; 75 patients and 25 carriers were screened for HFE gene mutations by PCR-RFLP.

Serum ferritin measured by ELISA was evaluated in relation to HFE mutations.

Results : Twenty-eight b-thalassemia patients (37.3 %) were heterozygotes for H63D mutation (H / D), 8 (10.7%) were D / D and 39 (52 %) were negative (H / H).

Among carriers, 4 (16 %) were D/D and 21 (84 %) were H/H homozygotes.

C282Y mutant allele was not detected in any of the subjects.

Serum ferritin levels were significantly higher in b-thalassemia patients heterozygotes or homozygotes for H63D mutation compared to those without mutation (p= 0.000).

Carriers homozygotes for H63D mutation showed significantly higher serum ferritin levels compared to those without mutation (p < 0.001).

Conclusion : Homozygosity for H63D mutation tends to be associated with higher ferritin levels in beta-thalassemia patients and carriers suggesting its modulating effect on iron load in these cases.