Hereditary Haemochromatosis

Haemochromatosis occurs when the body absorbs and improperly stores too much iron from the diet.

Last modified: June 24, 2019

What is haemochromatosis?What is haemochromatosis?

Hereditary haemochromatosis (also known as familial haemochromatosis or inherited iron overload disorder) occurs when the body absorbs and improperly stores too much iron from the diet.

People with haemochromatosis absorb too much iron from their food. Over time this leads to iron overload. The extra iron is stored in the body in places where it can cause problems, for example the liver, heart, pancreas, pituitary gland and other organs.

Who is at risk of haemochromatosis?Risk factors

Hereditary haemochromatosis is the most common genetic disorder in Australia.

Approximately 1 in 200 Australians with Northern European ancestry inherit the genes that cause haemochromatosis – meaning they may develop the clinical condition during their life. People of Celtic origin are at higher risk than people from Southern Europe.

Both men and women are at risk from haemochromatosis. However, women tend to develop the condition later in life because they lose blood from menstruation during child bearing years. However some women will develop symptoms at an early age.

Signs and symptoms of haemochromatosisSigns and symptoms

In the early stages of hereditary haemochromatosis, iron begins to build up in the body but people may not show any symptoms. Then as time goes by they may become unwell.

However, people with hereditary haemochromatosis don’t always have the same symptoms. The condition can be difficult to detect and tends to be under-diagnosed, partly because its symptoms are similar to those caused by a range of other illnesses and are vary in their intensity.

Symptoms of hereditary haemochromatosis can include:

  • Tiredness

  • Weakness and generally feeling unwell

  • Sore joints (especially in the knuckles, knees and ankles)

  • Stomach pains

  • Unexplained weight loss

  • Irregular heartbeat

  • Sexual dysfunction

For people with hereditary haemochromatosis, the extra iron stored in the organs and joints builds up gradually over many years. Over time, the liver becomes damaged, leading to serious diseases such as cirrhosis and liver cancer. Other organs such as heart and pancreas can also be affected and ultimately damaged. Without treatment, haemochromatosis can cause permanent organ damage and even early death.

How is haemochromatosis diagnosed?Diagnosis

Blood tests are used to detect iron overload and to diagnosis hereditary haemochromatosis. The blood tests you may have include transferrin saturation (TS), serum iron and serum ferritin.

  • Transferrin is a protein that carries iron in the blood. A transferrin saturation (TS) test shows how much iron the transferrin is carrying.
  • A serum iron test measures how much iron is present in the blood.
  • A serum ferritin test measures the amount of iron the body has stored.

If your blood tests show iron overload and/or you have a family history of haemochromatosis, then your doctor may request genetic testing (HFE studies) to confirm if you have hereditary haemochromatosis.

Your doctor may suggest other tests, such as a liver function test, to confirm the diagnosis and to look for other problems.

Treatment for haemochromatosisTreatment

There is no cure for haemochromatosis but regular blood removal (or venesection) is used to lower your blood levels to normal. The procedure for blood removal is similar to blood donation, where around 450-500mls of blood is removed until iron in the blood is reduced to normal. The amount of blood removed and how often it is removed depends on your age, overall health and how severe your iron overload condition is.

It may take a year or longer to reduce the iron in your body to normal levels. People with haemochromatosis should keep their iron levels monitored regularly by their doctor. If diagnosed early, the outlook for haemochromatosis is very good.

Frequently asked questionsFAQs

Can I get gene testing for haemochromatosis?

Haemochromatosis is an autosomal recessive gene disorder. This means that to develop haemochromatosis, a person needs to inherit the haemochromatosis (HFE) gene mutation from both of their parents. If a person inherits only one mutated haemochromatosis HFE gene, they are known as a carrier, and although they generally won’t develop iron overload themselves, they may pass the mutation on to their children.

A simple blood test can be done to test whether a person is carrying the mutated haemochromatosis (HFE) gene.

Is haemochromatosis more common in men than women?

Both men and women are at risk from haemochromatosis. Women tend to develop the condition later in life because of the blood they lose during menstruation during child bearing years. However some women will develop symptoms at an early age.

Can haemochromatosis be treated by diet?

Haemochromatosis cannot be treated by diet but you should eat a healthy nutritious diet and there are some things you should avoid. More information about diet and haemochromatosis can be found on the Dietitans Association of Australia website.

Can I still eat red meat if I have haemochromatosis?

There is no need to cut red meat out of your diet or follow a low iron diet, since blood removal (or venesection) is the best way to remove extra iron from your blood.

References References

For a full list of references, click here.
  1. Hereditary Haemochromatosis Diagnosis and Management. (2010). Australian Family Physician. Retrieved on 1 June 2019 from
  2. About Haemochromatosis. (2017). Haemochromatosis Australia. Retrieved on 1 June 2019 from
  3. Diet. (2019). Dietitians Association of Australia. Retrieved on 1 June 2019 from
View all


Contact us
Become a patient