Haemochromatosis: HFE Gene Mutations

Haemochromatosis comprises a number of iron-overload disorders, which can result in cirrhosis of the liver, diabetes, hypermelanotic pigmentation of the skin, heart failure and primary hepatocellular carcinoma. Once diagnosed, haemochromatosis can be treated relatively easily by phlebotomy. The most common form of hereditary haemochromatosis or ‘Classic’ haemochromatosis, is an autosomal recessive disorder, caused by mutations within a gene designated HFE, which is located on chromosome 6. Of these mutations, the two most common and best characterised result in the substitution of Cysteine by Tyrosine at codon 282 (C282Y) and Histidine by Aspartic acid at codon 63 (H63D). A third, rarer mutation, S65C may be associated with milder diesease when present inconjuction with a H63D or C282Y mutation, although this awaits more detailed characterisation.

The cost of this assay is per sample, for both the H63D and C282Y mutations (Note: The S65C mutation is also included, but is only reported if detected or specifically requested). EDTA or Citrated whole blood samples only are routinely accepted for this assay. To check the suitablility of any other potential sample types, please contact us.