Haemochromatosis - Diagnosis 

Diagnosing haemochromatosis 

Haemochromatosis can be difficult to diagnose as many of the typical symptoms can also result from other conditions.

Haemochromatosis is often diagnosed during testing for unrelated conditions.

Unless you have a family history of the condition, it may take a while before a correct diagnosis is confirmed.

If you do have a family history of haemochromatosis it's important to tell your GP.

Screening

If a close family member (mother, father, brother or sister) is diagnosed with haemochromatosis, there is a chance you will also develop haemochromatosis.

The chance could be as high as one in four if your brother or sister is diagnosed, so you may want to be tested for the condition yourself.

Similarly, family members, including any children you have, may want to be tested if you are positively diagnosed.

Blood tests

Haemochromatosis is usually diagnosed using blood tests, which may include:

  • transferrin saturation – a blood test that indicates how much iron is readily available for use in the body
  • serum ferritin – a blood test that indicates the amount of iron stored in the body

If tests detect high levels of iron in your body you will be referred for a more detailed blood test, where a sample of your DNA is checked for the HFE mutation.

This genetic test will usually confirm or rule out the diagnosis and also determine whether a person is a carrier of the HFE mutation. People who carry the mutation do not develop symptoms and signs of iron overload.

Liver biopsy

A liver biopsy may be recommended if tests reveal high levels of iron or there are enzymes present that indicate liver damage.

A liver biopsy involves taking a small sample of liver tissue. A hollow needle is injected into your skin and then into your liver and a sample of the tissue is taken. The injection is not painful as the skin is numbed with local anaesthetic.

The sample is then checked to see if the tissue is hardened, scarred or has cancer cells in it – all of which would indicate some degree of liver disease.


Page last reviewed: 29/07/2014

Next review due: 29/07/2016

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Blood tests

Blood tests are carried out for a variety of reasons and can provide a wide range of information