Assessment of the haemochromatosis gene (HFE) is used to check for hereditary haemochromatosis which is an inherited disorder that causes the body to absorb too much iron. Iron begins to build up in the blood, heart, liver, pancreas, skin, joints and other organs.
In its early stages haemochromatosis can cause stomach pain and joint soreness, malaise and weight loss. Haemochromatosis can also cause scarring of the liver (liver cirrhosis), diabetes, infertility, heart failure, darkening of the skin, arrhythmia (irregular heartbeats), and arthritis. It is also possible that many people do not have symptoms in the early stages.
For men, hereditary haemochromatosis can manifest around the age 40 to 60. For women it does not usually manifest until after menopause because, until that time, menstruation allows the body to regularly deplete itself of surplus iron.
Why This Test is Done
HFE testing is performed in order to find out if a person has an increased likelihood of having haemochromatosis. It is generally recommended for people who have a close family member such as a parent, sister, brother or child with the disorder. The test can also be performed if you have continuously high levels of iron in the blood. This test can help the patient to confirm if they have haemochromatosis.
HFE testing aids in the identification of gene mutations in the HFE genes. The gene mutations for this disorder are called C282Y and H63D.
A blood specimen is required, which can be taken at any time of the day. Fasting is not required.
Once the practitioner has given the patient their request form, the patient takes it to their nearest Australian Clinical Labs collection centre. If you are unsure of your nearest collection centre head to location on our website or call us on 1300 554 480 between 9.00am and 5.00pm Monday to Friday for details.
Patients does not need to fast or make any special preparation before having blood collected.
Turnaround time is usually 7-10 working days.
Patient results are delivered to the referring practitioner via electronic download unless requested otherwise. Results can also be issued via hardcopy, fax or web based e-viewer.