Haemochromatosis

Haemochromatosis is a genetic condition causing the body to absorb too much iron from food, which then builds up in organs such as the liver, heart, and pancreas over time. It is one of the most common inherited conditions in people of northern European ancestry. If untreated, iron overload can eventually damage affected organs.

The most common form is caused by inherited mutations in the HFE gene, following an autosomal recessive pattern, meaning two copies of the altered gene, one from each parent, are usually needed to cause significant iron overload. Not everyone with two altered gene copies develops symptomatic disease, and other factors, including diet and alcohol intake, can influence severity. Rarer genetic forms also exist.

Early symptoms are often vague, including fatigue, joint pain, and abdominal discomfort, which can make diagnosis tricky in the earlier stages. As iron accumulates further, symptoms can include diabetes, liver problems, skin bronzing, and heart or joint complications. Many people are now diagnosed through blood tests before significant symptoms develop, particularly if there is a known family history.

If left untreated, iron overload can cause serious damage to the liver (including cirrhosis and increased liver cancer risk), heart, pancreas (causing diabetes), and joints. With early diagnosis and regular treatment to reduce iron levels, most complications can be prevented, and people with treated haemochromatosis generally have a normal life expectancy. This makes early detection, particularly in family members of an affected person, especially valuable.

Yes, the common form is a genetic, inherited condition, and having a close relative diagnosed with haemochromatosis means other family members should consider being tested, even without symptoms. It follows an autosomal recessive pattern for the most common genetic type. Genetic testing and iron level blood tests can identify at-risk relatives early, before organ damage develops.

The main treatment is regular venesection (therapeutic blood removal), similar to donating blood, which reduces total body iron levels over time. Once iron levels are controlled, maintenance venesection continues periodically, often a few times a year, to keep levels in a safe range. Dietary advice, such as moderating alcohol and avoiding iron supplements, supports this treatment.

There is no cure for the underlying genetic condition, but regular venesection treatment effectively controls iron levels and prevents most complications, allowing many people to live a normal, healthy life. Early diagnosis before organ damage occurs gives the best long-term outcome. Lifelong monitoring of iron levels continues even once levels are well controlled.

Hereditary haemochromatosis is caused by a specific inherited genetic mutation affecting iron absorption, while other forms of iron overload can occur from conditions requiring frequent blood transfusions, certain chronic liver diseases, or rarer inherited disorders. Genetic testing helps confirm hereditary haemochromatosis specifically, which then guides the choice of venesection as the main treatment. The underlying cause affects which treatment approach, venesection or otherwise, is most appropriate.

Consider testing if you have a family history of haemochromatosis, unexplained fatigue or joint pain, or abnormal liver blood tests without another clear cause. A private assessment including iron studies and genetic testing can typically be arranged within about one to two weeks. Testing relatives of someone diagnosed with haemochromatosis is particularly valuable, since early detection before symptoms develop leads to the best outcomes.