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Hereditary Haemochromatosis
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Hereditary Haemochromatosis, the Rusting Disease

You may not realise you have hereditary haemochromatosis (HC) until you’re middle-aged, because the symptoms take years to develop and losing iron during periods slows it down for women. It’s caused by a double dose of abnormal gene variants (one from each parent) and triggers a progressive build-up of iron in the liver and other body organs, that can lead to serious damage. New research suggests that a double dose of the genetic mutation HFE C282Y may harm up to one in 20 affected women and one in 10 affected men, many more than previously thought.

Occasionally iron overload has other causes, such as liver disease, kidney dialysis, frequent blood transfusions, or overdoing iron supplements. 

The symptoms

These usually start with chronic fatigue and weakness, joint pains (especially thumb and forefinger knuckles), weight loss and/or hormone changes (absent periods, impotence). As the iron accumulates, abnormal liver function can progress to cirrhosis (or rarely, cancer) and damage occurs to the heart muscle, skin (becomes greyish/tanned) and pancreas HC is nicknamed ‘bronze diabetes’. If it’s severe, you may also develop tummy pain/swelling, jaundice (yellow eyes and skin), ankle swelling, breathlessness and neurological, psychiatric or other symptoms.

The treatment

You’ll need to avoid iron supplements, including in fortified foods, limit your intake of alcohol and vitamin C supplements. If you’re pregnant, you’ll need additional advice.

The main treatment is venesection regular ‘blood donations’ (although the blood isn’t used) to encourage new blood cell formation, gradually sucking the iron out of your system. This is done frequently at first, while monitoring your ferritin (‘iron’) levels, then less frequently as they fall. If venesection isn’t suitable, infusions (prolonged intravenous injections) of chelation therapy will remove iron from the body instead.

Many of the changes and symptoms will gradually improve, although you may also need monitoring and treatment for liver or other complications. 

The Hereditary Haemochromatosis Society provides information and support on all aspects of the condition. Call the helpline or visit their website.

E322 – Hereditary Haemochromatosis, the Rusting Disease –

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