Haemochromatosis : Diagnosis

Haemochromatosis can usually be diagnosed with blood tests.

Speak to a GP about getting tested if:

  • you have persistent symptoms of haemochromatosis – these symptoms can have a number of causes, and the GP may want to rule out some of these before arranging a blood test
  • a parent or sibling has been diagnosed with haemochromatosis – even if you do not have any symptoms, you may be at risk of developing the condition

Blood tests

Several blood tests are needed to diagnose haemochromatosis.

You'll have tests to check:

  • the amount of iron in your blood – known as your transferrin saturation level
  • the amount of iron stored in your body – known as your serum ferritin level
  • if your DNA carries a faulty gene associated with the condition – read about the causes of haemochromatosis

These tests will help show if you have haemochromatosis, if you're a carrier of a faulty gene linked to the condition, or if you might have another condition that causes high iron levels.

If these tests detect a problem, you'll usually be referred to a hospital specialist to discuss what the results mean and whether you might need any further tests or treatment.

Further tests

If blood tests show that you have haemochromatosis, you may need to have some further tests to check if the condition has caused any organ damage, particularly damage to your liver.

These tests may include:

  • a blood test to check for substances that indicate a problem with your liver
  • a liver biopsy – where a needle is used to remove a small sample of liver tissue under local anaesthetic so it can be checked for signs of damage
  • an MRI scan to check for iron in your liver and look for signs of liver damage

Liver damage is 1 of the main complications of haemochromatosis.

Other causes of high iron levels

A high level of iron in the body can have several causes other than haemochromatosis, including:

  • long-term liver disease
  • conditions that need frequent blood transfusions, such as sickle cell disease or thalassaemia
  • drinking beer brewed in iron containers
  • excess iron intake from supplements or injections
  • long-term dialysis, a treatment that replicates some of the functions of the kidneys
  • rare inherited conditions that affect red blood cells, the proteins that transport iron (such as atransferrinaemia) or where iron collects in the body (such as aceruloplasminaemia)