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  • Q&A with Australian Health Practitioners

    How is haemochromatosis diagnosed?

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    Dr Richard Beatty

    GP (General Practitioner)

    Brisbane GP With Special interest in Complex Medical, Men's health, antenatal, paediatrics. Skin Cancer Clinic Designated Aviation Medical Examiner Specific interests in Vasectomy, Dermatology & … View Profile

    Hereditary Haemochromatosis (HH) is a topical subject because of the availability of genetic tests and many people are finding out that they have a family member with the genetic code behind haemochromatosis, and wonder what this means.

    The condition is caused by a genetic defect that results in increased iron absorption and iron overload; after many decades, this can manifest as problems with the liver, diabetes or other issues such as arthritis or impotence.

    The condition requires both of the genes to be present - one from each parent. About 1 in 200 people carry both genes. Remember, both parents must be carriers to pass this on. Carriers (1 in 10 to 1 in 15 people) are not clinically affected.

    So … What if you carry both genes (you are in the 1 in 200 group)? Surprisingly, only a small number of people ever get problems with iron overload. The statistics vary hugely, but roughly 1 in 3 men and roughly in 1 in 20 women who carry both genes ever get the disease. Only those with iron overload can be said to truly have “haemochromatosis.”

    Therefore, for those people who have been tested positive for both genetic faults (have the HH gene), they can be reassured that that most will never get the disease; however, it is important to pick up early those who will go onto get iron overload because the disease can be prevented by removing the iron from the body. Therefore, those with the full HH gene (but not just carriers) will need “iron studies” (not just iron levels) done each year.

    The “first” blood test to become abnormal is the iron saturation. However, it's only when the “ferritin” (an indirect measure of iron) becomes high that you'll need treatment to prevent any disease caused by iron overload. It can be difficult to know when to start treatment and sometimes other tests will be needed.

    It's important for family members of those with both HH genes to be screened for the gene. It's recomended generally that kids don't have the test, however, until they are 18 because treatment will not be required (if at all) until they reach well into adulthood.

    Established HH can easily be picked up on a blood test (iron studies). The commonest presenting symptom is tiredness - but it's such a common symptom that only a truly tiny number of tired people will be tired because of HH. Having said that, if you do have blood tests for tiredness, the iron studies may be worth checking.

    For those living in Australia, the genetic test for haemochromatosis will cost up to around $190. Medicare will pay a rebate, however, where there is an immediate family member with the genes for HH (not carriers), or where the ferritin or iron saturations have been raised on at least 2 occasions.

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    Thanks for this information.  Haemochromatosis is not often talked about - most people know that iron deficiency is not good, but don't know that iron overload can be a problem for some too.  There's more information available too from Haemochromatosis Australia via thier website at

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