Inherited iron overload disorder

Haemochromatosis is the most common genetic disorder in Australia. About 1 in 200 people of northern European origin have the genetic risk for haemochromatosis. People with haemochromatosis absorb too much iron from their diet. The excess iron is stored in the body. Over time this leads to iron overload.


We all know that not enough iron causes health problems but few realise that for some, too much iron is also a problem. If undetected and untreated, the excess iron can cause organ or tissue damage and can potentially result in premature death.


Haemochromatosis tends to be under-diagnosed, partly because its symptoms are similar to those caused by a range of other illnesses.


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


The good news is that if haemochromatosis is detected before damage occurs, it can be easily treated and is no barrier to a happy and successful life.









Normal absorption of iron

Iron is a vital trace element that we get from our daily diet. The body is finely tuned to take in only as much iron as it needs. Red blood cells contain the protein haemoglobin, which carries oxygen around the body. Iron is needed for the production of haemoglobin.


The human body has no method of excreting excess iron. It controls iron levels by absorbing just the right amount of iron from our food. Any excess is stored in organs and joints in the body.


Effects of iron overload

The body typically stores around one gram or less of iron. However, a person with haemochromatosis absorbs a great deal more iron from their food than is necessary. Iron stores of five grams or more can build up inside the body. Organs such as the liver, heart and pancreas can be affected and ultimately damaged. Without treatment, haemochromatosis can cause premature death.


For people with haemochromatosis the excess iron stored in the organs and joints increases gradually over many years. The liver can become enlarged and damaged, leading to serious diseases such as cirrhosis or liver cancer. It can also cause other health problems including heart disease, diabetes, endocrine and sexual dysfunction and arthritis.

Common symptoms

The most common symptoms noticed by people with haemochromatosis are;

  • Fatigue, weakness and lethargy

  • Joint pains leading to osteoarthritis *

  • Other symptoms include:

  • Abdominal pain

  • Diabetes

  • Liver disorders; enlarged liver, cirrhosis

  • Sexual disorders; loss of sex drive in both male and female, impotence in men, absent or scanty menstrual periods and early menopause in women

  • Decrease in body hair

  • Discolouration or bronzing of the skin

  • Cardiomyopathy; disease of the heart muscle

  • Neurological/psychiatric disorders; impaired memory, mood swings, severe irritability, depression.

These symptoms, if present, take time to develop.

No two people are alike and symptoms will vary from person to person.

Some people never develop any symptoms at all.

All of the symptoms of haemochromatosis can also be caused by other medical conditions or even just the stresses of modern life.  They develop slowly and people often do not notice what is happening for a long time.  This can make haemochromatosis difficult to diagnose.

Symptoms are caused by high levels of iron stored in the body.  One indicator of the level of iron stored is serum ferritin. If iron stores are high the serum ferritin level will be high, but serum ferritin levels can also be raised by other factors.  The normal range is 20 – 300 micrograms per litre (µg/L) for men and 10 – 200 µg/L for women.

There is strong medical evidence of a potential for significant organ damage when iron stores cause serum ferritin levels above 1,000 µg/L. However some people seem to experience symptoms with levels between 300 and 1,000 µg/L. Higher levels are more likely to be associated with more severe symptoms.

If haemochromatosis is diagnosed and treated before serious iron overload and significant damage occurs, most symptoms will decrease or disappear. However there is evidence that treatment may not alleviate arthritis symptoms.










Treatment consists of the removal of blood by venesection (similar to donating blood). This is also sometimes called phlebotomy. Up to 500mL of blood is removed at regular intervals until the iron levels in the blood return to within the normal range.

This can take up to 18 months with weekly or sometimes twice weekly venesections, depending on the original iron levels of the patient.

Once normal levels of iron are re-established, venesections are used less frequently (three or four times a year) to maintain those levels throughout the patient’s lifetime.


Helpful Resources 



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For more Information and support with Haemochromatosis head to haemochromatosis.org.au

Content has been kindly supplied by Haemochromatosis Australia

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