Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in beta-thalassemia minor: Observations in a thalassemic kindred.

Heterozygosity for beta -thalassemia (minor) by itself does not lead into i ron overload; however, when it is inherited together with a homozygous stat e for either the H63D or the C282Y mutations of the hereditary hemochromato sis gene (HFE gene), iron overload may ensue. We describe here a Kindred in which the propositus, being heterozygote for beta -thalassemia and the H63 D mutation of the HFE gene, developed severe iron overload and in turn, chr onic liver failure with portal hypertension. Other members of the family wi th either beta -thalassemia or heterozygous for the H63D gene mutation did not develop iron overload. The interaction between beta -thalassemia and he reditary hemochromatosis is briefly discussed and speculations about other possible genetic mutations leading into familial iron loading are done.