Testing and Diagnosis for Haemochromatosis

If you think you might have haemochromatosis please make an appointment with your GP.

Diagnosis of genetic haemochromatosis is often made late.   This is dangerous as untreated iron overload can lead to organ damage and other health problems, of which much is irreversible.

Genetic Haemochromatosis (GH), is diagnosed through blood which your Doctor can order, they are not routine blood tests.

1. Transferrin Saturation (TS) – indicates how much iron is readily available for use in the body.   The average is 30% (slightly higher in men than women).   If on two occasions this is over 50% in men or 45% in women, GH is very likely.   This test is not often requested but it is the most specific and sensitive test for GH.

2. Serum Ferritin (SF) – indicates the amount of iron stored in the body. Levels significantly over 300μg/l [micrograms per litre] in men and post menopausal women and 200μg/l in younger women suggest GH.   In the early stages of iron accumulation serum ferritin may be normal.

3. Gene Test – a simple blood test for the HFE gene mutation is positive in over 95% of people with GH.  It will identify family members at risk of loading iron even before they have increased body iron stores.

4. Liver Biopsy – this is only usually requested if GH is diagnosed by the gene test and the serum ferritin level is over 1000μg/l, the liver function tests are abnormal, or the gene test is negative. A biopsy shows if the liver is damaged. If tests indicate that GH is likely, a referral to a Haematologist (blood) or Gastroenterologist (Digestive system) is usually the next step.

Other blood tests may be ordered by your GP or Consultant to test liver function.