Mutation of the HFE gene in patients with hereditary hemochromatosis and other diseases with iron accumulation in the liver

Abstract

The authors established frequency of C282Y and H63D mutations of the HFE gene for hemochromatosis in the population of Czech Republic. They discovered that the frequencies are somewhat differents from those in close European countries.

They showed that homo- or heterozygosity for these mutations may play role in the pathogenesis of other liver diseases than hemochromatosis.

Keywords

• hereditary
• hemochromatosis
• diseases
• liver