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Haemochromatosis is a condition that causes excess iron to build up in the body. Too much iron in the body can become toxic over time if left untreated. It can cause damage to other tissues and organs in the body, resulting in illnesses including arthritis and type 2 diabetes. Haemochromatosis is easily treated. Getting an early diagnosis and treatment is vital for normal health and to prevent long-term, irreversible damage to your body.

About haemochromatosis 

Iron is an essential mineral in your diet. About two-thirds of the iron you absorb is used to make the protein haemoglobin. This is found in red blood cells, and it carries oxygen around your body.

Your body has no way of excreting iron, so any excess iron that is not immediately needed by your body is stored in your liver, bone marrow, pancreas, heart, endocrine glands and joints. This can cause damage, which may lead to conditions such as cirrhosis of your liver, diabetes, arthritis and heart problems.

What causes haemochromatosis? 

Genetic (hereditary) haemochromatosis

This is the most common form of haemochromatosis. In Australia, about 1 in 300 people are genetically susceptible to developing haemochromatosis. It affects both men and women.

Genetic haemochromatosis is caused by a mutation (defect) in a gene called HFE. The HFE gene makes the HFE protein, which limits the amount of iron your body absorbs. If you have haemochromatosis, the HFE protein doesn’t function normally, so your body is unable to control the amount of iron it absorbs.

Genetic haemochromatosis is known as a recessive disorder. This means that to develop the condition, you need to inherit two sets of the mutated HFE gene – one from your mother and one from your father. If you inherit only one mutated HFE gene from your parents, you will be a carrier. This means you won't develop the disease, but you can pass the mutated gene on to your children. If your partner is also a carrier, your children may develop the disease.

If you have genetic haemochromatosis, genetic testing is very important for your family. Talk to your doctor to find out more.

How haemochromatosis is inherited

haemochromatosis diagram

Juvenile haemochromatosis

Juvenile haemochromatosis is a very rare form of genetic haemochromatosis that usually appears in adolescence – hence its name. It is caused by a mutation in a different set of genes from the more common form of genetic haemochromatosis – either the HJV gene or the HAMP gene. Juvenile haemochromatosis is often more severe and can cause extensive organ damage.

Secondary haemochromatosis

You can develop this type of haemochromatosis if you need to have regular blood transfusions over a long period of time. For example, people with some bone marrow disorders such as myelodysplasia, or an inherited condition such as thalassaemia or sickle cell disease may need to have regular blood transfusions, and may be at higher risk of developing secondary haemochromatosis.

Liver disease

Long-term liver diseases such as hepatitis C or alcohol-related liver disease can also lead to a build up of excess iron in the body.

Symptoms of haemochromatosis 

The symptoms of genetic haemochromatosis usually begin to appear between the ages of 30 and 50, but you may notice them at an earlier age. Women usually develop symptoms later than men because they lose some iron during each menstrual period.

The symptoms of haemochromatosis are the same regardless of what is causing it and may include:

  • severe and ongoing tiredness
  • weakness in your arms and legs
  • pain in your joints, especially in your knuckles and joints of your first two fingers
  • abdominal pain
  • weight loss
  • yellowing or bronzing of your skin – you may look unusually tanned
  • loss of libido
  • erectile dysfunction or shrinking of your testicles.

These symptoms may not always be caused by haemochromatosis, but if you have any of them, see your doctor.

Symptoms may be made worse by excessive alcohol intake. You may, however, have none of these symptoms in the early stages. As iron builds up further in your body, you may start getting symptoms related to the specific organs that are affected, such as liver scarring (cirrhosis) or diabetes.

Diagnosis of haemochromatosis 

There are two blood tests that can be used to screen you for haemochromatosis:

  • transferrin saturation blood test
  • serum ferritin blood test.

These tests give an indication of the amount of iron in your blood and body stores. If your doctor thinks you have haemochromatosis, they may refer you to a specialist for further tests. This may be a haematologist (a doctor who specialises in treating blood disorders), a hepatologist (a doctor specialising in liver disease) or a gastroenterologist (a doctor specialising in digestive disorders).

Your doctor may also ask you to have the further tests depending on the results of the transferrin and/or ferritin tests including:

  • a genetic test to find out if you have a mutated HFE gene 
  • blood tests to assess your blood count and liver function 
  • an ultrasound or MRI scan of your liver 
  • A liver biopsy – when a small sample of tissue is taken from your liver and sent to a laboratory for examination. It’s sometimes used to confirm your diagnosis when you have high iron levels and signs of liver disease but the genetic test is negative.

Treatment for genetic haemochromatosis 

If you have haemochromatosis, your body has no natural way of removing the extra iron that builds up. The aim of treatment is to reduce your iron levels and prevent irreversible damage occurring.

Venesection (phlebotomy)

Venesection (also called phlebotomy) is a treatment that involves taking blood from your body to help get rid of the excess iron. The procedure is similar to donating blood.

Venesection is split into two phases:

  • reducing your iron level until it is within the normal range
  • life-long monitoring and treatment to keep your iron stable at a safe level.

Your doctor will set up a treatment schedule for you that will depend on how severe your symptoms are. They will continue to check your haemoglobin and serum ferritin levels throughout your treatment.

Venesection can be done in an outpatient clinic at a hospital, in some medical practices and in some private pathology clinics. The Australian Red Cross Blood Service also has a free venesection program for people with hereditary haemochromatosis, funded by the Australian Government. If it is safe to do so, your blood can be donated to others.

Iron-chelation therapy for secondary haemochromatosis 

If you have secondary haemochromatosis as a result of regular blood transfusions, you can't be treated by venesection. Your doctor may therefore advise iron-chelation therapy.

Iron-chelation treatment involves having regular treatments with a medicine called desferrioxamine. Desferrioxamine can be given as an injection directly into a vein, under your skin or into a muscle. It may also be given as a slow 'drip' or infusion into a vein or under the skin. It works by binding to the excess iron in your blood. The iron then gets removed from the body in your urine and faeces.

You may be able to have your treatment in tablet or solution form for certain conditions or situations using the iron-chelating agents, deferasirox and deferiprone. However, oral iron-chelation therapy isn’t suitable for everyone. Always ask your doctor for advice and read the patient information leaflet that comes with your medicine.

Do I need to make changes to my diet? 

Haemochromatosis cannot be managed by diet alone but there are things you can do to help keep your iron levels down. You should eat a balanced, healthy, nutritious diet that contains iron but avoid:

  • taking iron supplements and multivitamins that contain iron
  • vitamin C supplements, as vitamin C helps your body absorb iron
  • eating large amounts of foods high in iron such as liver
  • drinking too much alcohol, as alcohol can increase iron absorption and put additional strain on your liver

If you are having many venesections, vitamin B12 and folate supplements may be beneficial. Drinking tea and eating dairy products with your meal may help too, as these reduce the amount of iron your body absorbs.

Further information 

Haemochromatosis Australia


Better Health Channel. State Government of Victoria. Haemochromatosis [Online] 2014 [Last updated July 2014; accessed Oct 2014] Available from:

Haemochromatosis Australia. Haemochromatosis: your questions answered [Online] 2013. Available from:

Lab tests online. TIBC and Transferrin [Online] [Last updated Dec 2013; accessed Oct 2014] Available from:

Lab tests online. Ferritin [Online] [Last updated Apr 2014; accessed Oct 2014] Available from:

NHS choices. Haemochromatosis [Online] [Last reviewed Jul 2014; accessed Sept 2014] Available from:

St John AT Stuart KA Crawford DHG. Testing for HFE-related haemochromatosis. Aust Prescr 2011; 34:7 3–6.

Last updated: 10 December 2014


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