ABSTRACT
HFE gene mutations have been shown to be responsible for hereditary hemochromatosis. Their effect on iron load in [3-thalassemia patients and carriers remains controversial. We aimed to determine the prevalence of HFE gene mutations [C282Y and H63D] in [3-thalassemia patients and carriers and to investigate its effect on their serum ferritin levels. A total of 100 [3-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. Twenty-eight [3-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 p-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]. 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