The assay covers the 3 most common mutations in the HFE gene (H63D, S65C, C282Y).
Hereditary haemochromatosis (HH) is a very common autosomal recessive disorder of iron metabolism. Among individuals of Northern European descent the carrier frequency is estimated 1 in 10, resulting in up to 1 in 200 homozygous subjects being predisposed to develop the disease. HH is characterized by progressive accumulation of iron in various organs (liver, heart, pancreas), ultimately leading to liver cirrhosis, diabetes, arthritis, cardiomyopathies and premature death. A number of mutations within a novel MHC class I-like gene (HFE) have been identified and related to HH. In the majority of Caucasian HH patients homozygosity for a single point mutation (C282Y) in exon 4 is observed. In addition, compound heterozygotes for C282Y and one of two other common mutations (H63D, S65C) within exon 2 of the HFE gene are at increased risk of developing haemochromatosis. Molecular genetic testing for HH-associated mutations is considered valuable for carrier identification, as well as for presymptomatic diagnosis of the disease. With early detection and simple and very effective treatment by therapeutic bleeding (phlebotomy) in order to remove the iron overload, irreversible organ damage can be completely prevented and survival of patients is virtually normal.