Rapid Genotyping of Hemochromatosis Gene Mutations on the LightCycler with Fluorescent Hybridization Probes

Abstract

Two point mutations in the hemochromatosis gene (HFE) are considered responsible for the development of hereditary hemochromatosis (HH), an autosomal recessive iron overload disease. One of these mutations produces a cysteine-to-tyrosine amino acid substitution at position 282 of the HFE protein (Cys282Tyr), caused by a G-to-A transition at nucleotide position 845. A homozygous Cys282Tyr mutation is present in 80–100% of hemochromatosis patients ( 1)( 2). This mutation prevents interaction of HFE protein with β₂-microglobulin, leading to an inability to bind to the transferrin receptor, a process that is necessary for iron resorption ( 3)( 4).