The body isn’t able to get rid of excess iron - it controls levels by absorbing just the right amount of iron from food, and any excess is stored in organs and joints in the body. If you have haemochromatosis, also known as "inherited iron overload disorder" - you absorb much more iron from your food than is needed. Gradually over many years this can cause iron to build up and damage organs such as the liver, heart and pancreas leading to serious diseases such as cirrhosis or liver cancer.
People affected by haemochromatosis often complain of fatigue, weakness and lethargy, as well as joint pain which can progress to osteoarthritis. Other symptoms can include abdominal pain, diabetes, liver disease, heart problems, sexual disorders such as loss of sex drive, impotence, disrupted menstrual periods and early menopause. Haemochromatosis can also lead to neurological disorders such as impaired memory, mood swings, severe irritability, depression. If haemochromatosis is diagnosed and treated before serious iron overload and significant damage occurs, most symptoms will decrease or disappear.
What we test
Haemochromatosis Gene Mutation Test (HFE Test)
Inherited disorders are caused by specific genes that have changed, or mutated over centuries and have been passed down through generations. This haemochromatosis test analyses the HFE gene that controls haemochromatosis. For the condition to be passed on, both mother and father must have one copy of the abnormal HFE gene.
The C282Y mutation is associated with most cases of hereditary haemochromatosis. If a person has C282Y mutations in both copies of the HFE gene, they have a high risk of developing haemochromatosis
Some cases of haemochromatosis occur in people who have one copy of C282Y and one of H63D. People who have two copies of the H63D mutation may have a very slightly increased risk of developing haemochromatosis, while people who have only one copy of any of this mutations and one normal gene are not at increased risk.
Some cases of haemochromatosis occur in people who have one copy of C282Y and one of S65Y. People who have only one copy of this mutation and one normal gene are not at increased risk.
Test instructions
Download and print your pathology form from your i-screen dashboard.
Take your form to one of our affiliated collection centres to have your sample taken.
Results for this test available in 10-12 days and will be published in your online dashboard.
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