Note: All samples should be forwarded to LabPlus at room temperature within 24hours.
Note: If an analysis of the H63D and S65C HFE mutations is required, and the patient has already been analysed for the C282Y HFE mutation by this lab, we may already have a suitable specimen for testing. This may mean that it is not necessary to take a new blood sample for this test. Please call the lab and discuss this with a Scientist.
Approximately 90% of patients diagnosed with classical hereditary haemochromatosis appear to be homozygous for a mutation in an MHC class I like gene termed HFE (formerly HLA-H) which changes cysteine 282 to a tyrosine. Two further mutations (H63D & S65C) have been reported to be associated with more mild forms of haemochromatosis, although the functional significance of S65C is yet to be determined. Compound heterozygotes with both the C282Y and H63D have been associated with iron overload.