Prevention

If you have a family history of haemochromatosis, you should see a medical professional as soon as you can. Relatives may be at risk and need to be encouraged to be screened by genetic testing to find out whether they carry the HFE gene mutation (though children do not need to be tested until they reach adulthood and can decide for themselves). ‘Screening’ in this sense means testing people who have no symptoms but are considered to be at increased risk of a particular disorder. It is very important that brothers and sisters are screened because they are more likely to carry both abnormal genes.

Genetics is a complex and fast changing area. Genetic counselling can help you to better
understand the likely occurrence of haemochromatosis in your family or explain the
implications of any diagnosis. Genetic counsellors are specially trained professionals, usually from a medical or nursing background, who have first-hand knowledge of genetic disease and
its practical impact. You may wish to talk to a counsellor to find out more about an inherited disorder in your family or you can be referred for counselling by a GP or hospital consultant following diagnosis.

Screening for haemochromatosis
Awareness of haemochromatosis among GPs is still emerging and it is still often mistakenly considered to be a rare disease. Diagnosis is not easy because most symptoms are non-specific, meaning that they are usually caused by other conditions not related to haemochromatosis.

Symptoms can also take a long time to develop. As they often occur after the age of 40 they can be mistaken for, or coincide with, conditions that have a later onset such as diabetes and heart disease. This can mean that people are not referred for the correct diagnostic tests quickly enough.

In the UK the National Screening Committee has yet to recommend national screening for haemochromatosis despite the known benefit of early detection. This is due to major uncertainty about the chance of a person becoming ill as a result of inheriting genetic haemochromatosis.

Without national screening, the possibility of carrying out blood iron tests to screen age and ethnically-targeted people should be examined urgently.