Diagnosis - Haemochromatosis

Haemochromatosis is usually diagnosed with blood tests.

These symptoms can have many causes, and the GP may want to rule out some of these before arranging a blood test. Even if you do not have any symptoms, you may be at risk of developing the condition.

Blood tests

You will need several blood tests to diagnose haemochromatosis.

The blood test will 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
• you're a carrier of a faulty gene linked to the condition
• 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. They will discuss what the results mean and if you might need any further tests or treatment.

Other tests

You may need more tests to check if haemochromatosis has caused any organ damage.

These tests may include:

• a blood test to check for problems with your liver
• a liver biopsy – a needle is used to remove some liver tissue to check it for signs of damage
• an MRI scan to check for iron in your liver and look for signs of liver damage

Liver damage is one of the main complications of haemochromatosis.

Other causes of high iron levels

A high iron level may 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