Haemochromatosis is usually diagnosed with blood tests.
Non-urgent advice: Talk to a GP about getting tested if:
- you have long-lasting symptoms of haemochromatosis
- a parent or sibling has haemochromatosis, even if you do not have symptoms
Symptoms of haemochromatosis can be similar to symptoms of other conditions. Your GP may need to rule out other conditions and do certain blood tests.
Blood tests
Blood tests can check different types of iron levels:
- serum ferritin level - how much iron is stored in your body
- transferrin saturation level - how much iron is in your blood
Your GP may do these tests in stages.
There is a risk of haemochromatosis if your:
- serum ferritin level is higher than 300ng/ml in men or higher than 200ng/ml in women
- transferrin saturation level is higher than 45%
Your GP may do other tests to check if you have another condition that causes high iron levels.
Genetic test for haemochromatosis
If other blood tests show a risk of haemochromatosis, your GP may arrange a genetic test. The test checks if your DNA carries a faulty gene linked to the condition.
The results can show if you:
- have haemochromatosis
- are a carrier of a faulty gene linked to the condition
Further tests
If blood tests show a problem, your GP may refer you to a hospital specialist. You can talk to the specialist about any other tests or treatment you may need.
You may need more tests to check if haemochromatosis damaged other parts of your body, especially your liver.
Tests may include:
- a liver biopsy - doctors use a needle to remove some liver tissue and check for liver damage
- an MRI scan - to check for iron in your liver and liver damage
- an electrocardiogram (ECG) or echocardiogram - to check your heart
- tests for joint conditions
- tests for diabetes
- tests for Addison’s disease
- a DEXA scan - an x-ray of your bones to check for osteoporosis
Other causes of high iron levels
Other reasons for a high level of iron in your blood include:
- long-term liver disease
- conditions that need frequent blood transfusions, such as sickle cell disease or thalassaemia
- taking too much iron from supplements or injections
- long-term dialysis - a treatment to help with kidney function
- rare inherited conditions that affect red blood cells
- drinking too much alcohol
