Impact de la mutation H63D du gène HFE sur la surcharge en fer chez les β-Thalassémiques mineurs

Abstract

The H63D mutation of the HFE gene and the β- thalassemia are two genetic features that are relatively frequent in the Tunisian population. The aim of this study was to investigate the impact of H63D and C282Y HFE gene mutations on iron overload in Tunisian β-thalassemia carriers.
A 61 heterozygous β-thalassemia population was compared to a 62 healthy and non-apparently blood donors population. Iron overload was evaluated by measuring the serum ferritin level. C282Y and H63D HFE gene mutations were screened by
RFLP-PCR (restriction fragment-length polymorphism polymerase chain reaction).
C282Y mutation was not present in our studied population. The allele frequency of H63D mutation in β-thalassemia carriers (17.2%) was not different from that found in the healthy donors population (15.5%) (p=0.09). No statistically significant difference of serum ferritin level was detected between the patients and the healthy donors with or without HFE mutations.
Our results suggest that the H63D mutation is not frequent in heterozygous β-thalassemia Tunisian patients and in the general population. The number of subjects carrying H63D mutation was too low to conclude his effect on the iron status.