EFFECT OF CO-INHERITANCE OF β-THALASSEMIA AND HEMOCHROMATOSIS MUTATIONS ON IRON OVERLOAD

Co-inheritance of mutations in the HFE gene underlying hereditary hemocromatosis (HH) may play a role in the variability of iron status in patients with beta-thalassemia (beta-thal) minor. Different studies have yielded conflicting results: some suggest iron overload might arise from the interaction of the beta-thal trait with homozygosity or even heterozygosity for HFE mutations and others that it was unrelated to the HFE genotype. Because of the high frequency of HFE mutations in the Balearic Islands, where the beta-thal trait is also moderately common, it is of interest to evaluate the effect of the co-inheritance of mutations in both genes on the severity of iron loading. A retrospective analysis of 142 individuals heterozygous for beta-thal was performed to investigate the effect of HFE mutations on iron status of these patients. No significant differences were detected between beta-thal carriers with and without HFE mutations. These results suggest that in the Balearic population the beta-thal trait does not tend to be aggravated by the co-inheritance of HFE mutations.