Haemochromatosis Type 1
Also known as: Haemochromatosis« Back to test list
Haemochromatosis Type 1 is an autosomal recessive disorder caused by two common mutations in the HFE gene. This test result has diagnostic and therapeutic implications.
In an affected person, the presence of one mutation increases the likelihood of a diagnosis of haemochromatosis Type 1 but is not diagnostic. The presence of two mutations supports a diagnosis of this disorder. The absence of mutations in this gene makes a diagnosis of haemochromatosis type 1 very unlikely.
In an unaffected person, the presence of one mutation indicates that the person is a carrier of this disorder, but is unlikely to be affected. The presence of two mutations places the person at high risk of developing iron overload, with a 2-30% risk (depending on the mutations found) of developing systemic complications.
This is an assay for heritable mutations. It may raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient. The interpretation of the result may also be dependent on the family history and the interpretation of other studies.
Analysis of the HFE gene for the Cys282Tyr (C282Y), His63Asp (H63D), and Ser65Cys (S65C) mutations.
This test can be requested by any medical practitioner.
4 mL blood in EDTA (separate tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We also recommend that the patient or another adult check the labelling of request forms and sample tubes.
Investigate Fe studies (Transferrin Saturation, TIBC, Ferritin)