Haemochromatosis

Haemochromatosis is an inherited condition in which the body absorbs too much iron from food, leading to a build-up of iron. Iron overload can cause damage to various organs in the body, but early detection and treatment of haemochromatosis can prevent complications.

There is no cure for haemochromatosis, but it can be treated by removing blood from your circulation. Many people with haemochromatosis are able to donate this blood to the blood bank.

Symptoms

In many cases, there are no symptoms, especially in children and young adults. When symptoms do arise (usually between the ages of 30 and 60 years) they are often very vague and can be similar to symptoms of many other conditions.

The most common haemochromatosis symptoms include:

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

Men with haemochromatosis may have problems getting an erection, and women may have irregular or absent periods.

Complications

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

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. This can sometimes eventually lead to liver cancer.
  • Pancreas: if the pancreas is affected, diabetes may develop.
  • Heart: heart failure and heart rhythm problems can result from heart muscle damage (cardiomyopathy) when iron is deposited in the heart.
  • Reproductive organs: iron overload may affect ovarian tissue in women causing irregular periods, no 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.
  • Thyroid gland: hypothyroidism (an underactive thyroid gland) may develop.

Women usually develop symptoms later than men because they lose some iron every month when menstruating (having periods), meaning iron does not build up as quickly.

What causes haemochromatosis?

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. But in people with haemochromatosis, genetic mutations affect their ability to regulate how much iron is absorbed from food. This means that too much iron is absorbed, leading to a build-up of iron in the body. This happens slowly, over many years.

Haemochromatosis is a common inherited disorder. About 1 in 10 people of Northern European descent are carriers of a genetic mutation that causes haemochromatosis, and about one in 300 Caucasian Australians has the disease.

Diagnosing haemochromatosis

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 iron studies are abnormal, genetic testing may be done to make the diagnosis. The gene that is usually affected in haemochromatosis is called the HFE gene. Genetic tests will involve analysing a blood sample for the common disease-causing mutations (HFE mutation testing).

An MRI-based scan (FerriScan) can be used to detect the amount of iron in the liver. Your doctor may also recommend a blood test to assess your liver function. Rarely, a tiny sample (biopsy) of the liver is recommended to confirm the diagnosis and determine whether iron overload has caused liver damage.

Treating 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.

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

When first diagnosed, it may be necessary to remove about half a litre of blood every week for up to 2 years. Not all people will need to have venesection this frequently - your doctor will recommend a venesection schedule depending on your symptoms, general health and the degree of iron overload.

Once the excess iron has gone, blood is removed 3 or 4 times a year to maintain iron at normal levels.

Venesection treatment is available free of charge through the Australian Red Cross Blood Service. Your doctor can refer you to this service for treatment. However, some people are not eligible to donate blood - if this is the case, your doctor can organise venesection.

At the moment there is no cure for haemochromatosis, so treatment and monitoring are lifelong for people with this disorder.

Self-care

Recommendations for self-care may include:

  • limiting the amount of iron-rich foods (such as red meat and iron fortified cereals) in your diet;
  • avoiding vitamin and mineral 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 family members

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.

First degree relatives, which means parents, children or siblings (brothers or sisters), of people with haemochromatosis should have blood tests, including iron studies and genetic tests (HFE mutation testing). These tests help work out if there is a chance that you are a carrier of a haemochromatosis gene mutation, or if you are at risk of developing haemochromatosis.

Support groups

There are support groups for people with haemochromatosis (and their families) where you can talk about your condition with other people who are affected. Ask your doctor or visit the Haemochromatosis Australia website for more information on support groups.

References

1. Genetic haemochromatosis (published March 2016; amended March 2017). In: eTG complete. Melbourne: Therapeutic Guidelines Limited; 2018 Mar. https://tgldcdp.tg.org.au (accessed May 2018).
2. Gastroenterological Society of Australia (GESA); Digestive Health Foundation (DHF). Information about haemochromatosis, Third Edition 2011. http://www.gesa.org.au/resources/patients/haemochromatosis/ (accessed May 2018).
3. Australian Red Cross Blood Service. Therapeutic venesection (updated 18 Sep 2017). https://transfusion.com.au/high_ferritin (accessed May 2018).
4. NHS Choices. Haemochromatosis (updated 7 Nov 2016). https://www.nhs.uk/conditions/haemochromatosis/ (accessed May 2018).
5. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Hemochromatosis (updated 19 Mar 2014). https://www.niddk.nih.gov/health-information/liver-disease/hemochromatosis (accessed May 2018).
6. Royal College of Pathologists Australia. RCPA Manual. Hereditary haemochromatosis (revised Feb 2015). https://www.rcpa.edu.au/Library/Practising-Pathology/RCPA-Manual/Items/Clinical-Problems/H/Hereditary-haemochromatosis (accessed May 2018).
7. Goot K, Hazeldine S, Bentley P, Olynyk J, Crawford D. Elevated serum ferritin. Australian Family Physician 2012;41(12):945-9. http://www.racgp.org.au/afp/2012/december/elevated-serum-ferritin/ (accessed May 2018).
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