A condition in which excessive amounts of iron accumulate in the body

  • Age, gender, genetics, and lifestyle as risk factors depend on the cause

In haemochromatosis, the level of iron in the body is too high. The excess iron gradually accumulates in organs such as the heart and liver, eventually damaging the organs. Men are more likely to develop symptoms than women, because women regularly lose iron from their body when menstruating.

What are the causes?

Haemochromatosis may be caused by a genetic abnormality (primary, or inherited, haemochromatosis) or it may develop as a result of another condition or factor (secondary haemochromatosis).

Several gene abnormalities may cause primary haemochromatosis but a gene known as the HFE gene is responsible for more than 9 in 10 cases of the disorder. This gene is inherited in an autosomal recessive manner, which means that a person must inherit two copies of the gene, one from each parent, for symptoms to develop (see Gene disorders). If a person has only one copy, he or she is a carrier but does not develop symptoms.

Secondary haemochromatosis may occur as a result of various underlying causes. These include having numerous blood transfusions, which may be given in the treatment of conditions such as thalassaemia or sickle-cell disease; excessive dietary iron (usually from taking supplements or from drinking large amounts of beer that has been brewed in iron containers) or iron injections; chronic liver disease; and long-term kidney dialysis.

What are the symptoms?

The symptoms develop gradually and, at least initially, are often mild. Symptoms of primary haemochromatosis typically do not appear until after the age of about 40. Symptoms of secondary haemochromatosis may affect adults of any age. Initial symptoms may include:

  • Weakness and lack of energy.

  • Abdominal pain.

  • In men, shrinking of the testes and erectile dysfunction.

  • In women, infrequent or absent periods.

  • Pain and stiffness in the joints, particularly in the hands.

  • Bronzing of the skin.

As haemochromatosis progresses, damage to the organs can lead to conditions such as chronic heart failure, diabetes mellitus, and liver cirrhosis.

What might be done?

Haemochromatosis is diagnosed by testing blood for high levels of iron. CT scanning or ultrasound scanning may be used to look for liver damage. A liver biopsy may also be carried out to check for iron deposits in the liver. Relatives of an affected person should consult their doctor to see whether they should be screened for the condition.

Treatment is aimed at removing excess iron from the body. This is done by removing about 500 ml (1 pint) of blood each week until iron levels are normal. In a few cases where the underlying cause can be easily corrected, no further treatment may be necessary; for example, if the cause was simply too much dietary iron, restricting iron intake may be sufficient. However, usually it is necessary to continue to remove blood at regular intervals, although less frequently than once a week. People with haemochromatosis may also be treated with a drug that binds to iron in the body and enables it to be excreted.

It is also important to avoid alcohol, iron-rich foods, and iron supplements. Reducing your intake of vitamin C may also be helpful as this vitamin increases the amount of iron absorbed in the intestines.

What is the prognosis?

With early treatment, haemochromatosis is not thought to affect life expectancy. However, if organ damage has occurred, lifespan may be shortened, and in severe cases, an organ transplant may even be necessary.

From the 2010 revision of the Complete Home Medical Guide © Dorling Kindersley Limited.

The subjects, conditions and treatments covered in this encyclopaedia are for information only and may not be covered by your insurance product should you make a claim.

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