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Diagnosis - Haemochromatosis

Haemochromatosis is usually diagnosed with blood tests.

Non-urgent advice: Talk to your 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 want to rule out some of these before arranging a blood test.

Blood tests

Blood tests will check:

  • how much iron is in your blood - this is the transferrin saturation level
  • how much iron is stored in your body - this is the serum ferritin level
  • if your DNA carries a faulty gene linked to the condition

The results will show you if:

  • you have haemochromatosis
  • you're a carrier of a faulty gene linked to the condition
  • you have another condition that causes high iron levels

If the tests show there is a problem, you may be referred to a hospital specialist. They will tell you what the results mean and if you need more tests or treatment.

Treating haemochromatosis

Further tests

You may need more tests to check if haemochromatosis has caused damage to other parts of your body, especially your liver.

Tests may include:

  • a liver biopsy - a needle is used to remove some liver tissue to check for damage
  • an MRI scan - to check for iron in your liver and liver damage
  • an ECG or echocardiogram - to check your heart
  • check for joint diseases
  • check for diabetes or Addison’s disease
  • a DEXA scan - an x-ray of your bones to check for osteoporosis

Complications of haemochromatosis

Other causes of high iron levels

There can be other reasons for a high level of iron in your blood.

These 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, which is a treatment to help with kidney functions
  • rare inherited conditions that affect red blood cells
  • drinking too much alcohol
  • drinking beer brewed in iron containers

Page last reviewed: 8 August 2023
Next review due: 8 August 2026

This project has received funding from the Government of Ireland’s Sláintecare Integration Fund 2019 under Grant Agreement Number 123.