Haemochromatosis is an inherited condition leading to excessive iron absorption from food and is more common in Ireland than anywhere else in the world. One in 83 Irish people carry two copies of the HFE gene (i.e. a faulty gene from each parent) and are predisposed to develop iron overload. One in five carry one copy of the gene and are said to be carriers.
Early diagnosis and treatment are crucial to prevent serious complications.
What to look out for in patients:
- Chronic unexplained fatigue, weakness and abdominal pain
- Asymptomatic patients with incidental elevated LFT, ferritin or hepatomegaly
- Family members of HH patients - in the case of brothers and sisters (siblings) there is a 1 in 4 chance of being affected
- Liver disease of unknown cause, suspected alcoholic liver disease
- Early onset arthralgia (joint pain), atypical arthropathy
- Early onset male impotency, early menopause and loss of libido in women
- Early onset arrhythmias and cardiomyopathy
- Unexplained increasing skin pigmentation
- When women enter menopause and stop menstruating, it may emerge
- Diabetes, especially where there might be a family history of genetic haemochromatosis
Why get tested?
Excess iron is a free radical, with deposits building up in organs, mainly in the liver, and the pancreas, heart, anterior pituitary and joints.
Treatment
Regular venesections or phlebotomy is still the most effective treatment for haemochromatosis. (In some case, chelation therapy may be recommended for cases where patients cannot tolerate venesection treatment).
Dietary modifications: Avoid iron supplements, multivitamins that contain iron and Vitamin C supplements. Avoid raw or undercooked shellfish. Limit alcohol consumption.
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