Haemochromatosis

Haemochromatosis is an inherited condition in which the body absorbs too much iron from food, leading to a build-up of iron.

Haemochromatosis symptoms

Haemochromatosis symptoms usually develop between the ages of 30 and 60 years. When symptoms do arise they are often very vague and can be similar to symptoms of many other conditions.

Common symptoms include:

  • extreme tiredness;
  • weight loss;
  • joint pains; and
  • abdominal pain or discomfort.

Complications resulting from the effects of excess iron being deposited in various tissues of the body over many years include:

  • Skin: the skin can have a bronzed or tanned colour.
  • Joints: arthritis, which commonly affects the finger joints, can cause pain and stiffness.
  • Liver: cirrhosis, or scarring, of the liver.
  • Pancreas: if the pancreas is affected, diabetes may develop.
  • Heart: heart failure and heart rhythm problems can result from heart muscle damage when iron is deposited in the heart.
  • Reproductive organs: iron overload may affect ovarian tissue in women causing irregular periods, loss of libido (sex drive) or early menopause. In men, iron deposition can affect the testes, resulting in low sex drive, erectile dysfunction (impotence) and breast enlargement.

Women usually develop symptoms later than men because they lose some iron every month when menstruating, and so iron does not build up as quickly.

Causes

Haemochromatosis is an inherited disorder, affecting about one in 300 Australians of Caucasian descent. The genetic problem in haemochromatosis affects the body’s ability to regulate how much iron is absorbed from food.

In small amounts, iron is essential for our bodies to work normally. A normal diet contains far more iron than we need, and most of us only absorb as much as we need from our food. In people with haemochromatosis, too much iron is absorbed, leading to a build-up of iron in the body.

Complications

Without treatment, the slow build-up of iron in various parts of the body, including the liver, heart and pancreas, can eventually cause permanently damage.

Diagnosis

Your doctor will ask about your symptoms and family history, and perform a physical examination.

When haemochromatosis is suspected, your doctor will recommend you have blood tests to measure the iron levels in your body (such as transferrin saturation and ferritin levels). If these tests are abnormal, genetic testing may be done to make the diagnosis.

An MRI-based scan (FerriScan) can be used to detect the amount of iron in the liver. Rarely, a tiny sample (biopsy) of the liver is recommended to determine whether iron overload has caused liver damage.

What is the treatment for haemochromatosis?

Treatment involves having blood taken out of the body, just like being a blood donor. When this is done the body's response is to make extra blood, using up some of the stored iron. This treatment is known as venesection or phlebotomy.

When haemochromatosis is first diagnosed it may be necessary to remove about half a litre of blood every week for up to 2 years. Once the excess iron has gone, blood is removed 3 or 4 times a year to maintain iron at normal levels.

Treatment with venesection can help improve symptoms and stop any further organ damage. When treatment is started early, organ damage can be prevented.

Treatment and monitoring are lifelong.

Self-care

Recommendations for self-care may include:

  • limiting the amount of iron-rich foods (such as red meat) in your diet;
  • avoiding supplements that contain iron or vitamin C (which increases the absorption of iron); and
  • limiting alcohol (drinking with meals may increase iron absorption).

People who have liver damage or cirrhosis of the liver should avoid drinking alcohol altogether.

Screening

Because haemochromatosis is an inherited (genetic) disease, anyone with a close relative who is affected should have genetic testing. This is very important because early diagnosis and treatment can prevent permanent organ damage.

Last Reviewed: 31 August 2015
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References

1. Genetic haemochromatosis (revised February 2011; amended June 2013). In: eTG complete. Melbourne: Therapeutic Guidelines Limited; 2015 Jul. http://online.tg.org.au/complete/ (accessed Aug 2015).
2. Gastroenterological Society of Australia (GESA); Digestive Health Foundation (DHF). Information about haemochromatosis, Third Edition 2011. http://www.gesa.org.au/consumer.asp?id=88 (accessed Aug 2015).
3. NHS Choices. Haemochromatosis (updated 29 Jul 2014)). http://www.nhs.uk/Conditions/Haemochromatosis/Pages/Diagnosis.aspx (accessed Aug 2015).
4. National Institue of Diabetes and Digestive and Kidney Diseases (NIDDK). Hemochromatosis (updated 19 Mar 2014). http://www.niddk.nih.gov/health-information/health-topics/liver-disease/hemochromatosis/Pages/facts.aspx (accessed Aug 2015).
5. Goot K, Hazeldine S, Bentley P, Olynyk J, Crawford D. Elevated serum ferritin. Australian Family Physician; 41 (12): 945-9. http://www.racgp.org.au/afp/2012/december/elevated-serum-ferritin/ (accessed Aug 2015).
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