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What is hemochromatosis?

Hemochromatosis is a condition which is usually inherited, whereby a person absorbs too much iron from their diet. That iron then accumulates in the liver and other organs, this is known as iron overload. It can lead to inflammation and damage if left untreated.

Who typically has hemochromatosis?

Hemochromatosis is normally an inherited condition, sometimes termed ‘Hereditary Hemochromatosis’ (HH). This means that individuals inherit the condition from their parents. It therefore frequently runs in families. Genes which cause HH are more common in some populations, particularly those with a Gaelic (i.e. Irish or Scottish) link than within other groups. However, HH still occurs all over the world.

What are the symptoms of hemochromatosis?

The symptoms of hemochromatosis vary, and many individuals with the genes that cause hemochromatosis do not develop iron overload, nor any related symptoms or disease.

Where they do occur common symptoms can include fatigue, joint pain, liver damage and disruption to the menstrual cycle. If symptoms occur, these will typically begin to in middle age for men (from 30-40 years) and later in women (50 years plus).

How is hemochromatosis diagnosed?

Hemochromatosis is typically diagnosed when iron-related markers in the blood such as "ferritin" and "transferrin saturation" are found to be raised during a blood test. A genetic blood test can then confirm if the cause of iron overload is inherited or not.

Typically, a gene called ’HFE’ will be looked at. The hemochromatosis HFE gene-types commonly tested for are called ‘C282Y’ and ‘H63D’, though there are other rarer genes that can sometimes also cause iron overload. You have two sets of every gene, one from each parent. Typically, iron overload only occurs when you have two HH causing genes, such two C282Ys (called C282Y Homozygosity) or 1 C282Y and 1 H63D (called C282Y/H63D Compound heterozygosity).

Do not be afraid to ask your physician for more information if you find this confusing.

What is the treatment for hemochromatosis?

Treatment for hemochromatosis normally involves blood donation (or venesection). When blood is removed, iron is needed to make new red blood cells, and so it is removed from storage areas such as the liver. Each pint of blood given removes about 250mg of iron, far more than a person’s dietary uptake. Treatment is therefore usually very effective with early diagnosis generally meaning long-term complications can be avoided.

It may be that when you are first diagnosed, you have to donate blood as regularly as every week. When enough iron has been removed from the body, the frequency of blood donation can be reduced to just a few times a year. During this period of less regular blood donation, an individual is said to be 'in maintenance'.

If an individual is unable to give blood for any reason, drugs which remove iron from the body can be used as an alternative. This is called chelation.

Are there any hemochromatosis support groups I can contact?

For more information and support about Hemochromatosis visit the Haemochromatosis Society in the UK.

Haemochromatosis International maintains a list of groups worldwide who support those affected by Hemochromatosis.

What do patients with hemochromatosis say about LiverMultiScan?

Click here to read an account from a patient with Hemochromatosis who took part in the Patient LiverMultiScan study.