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Overview

Haemochromatosis is the most common genetic disorder, affecting about one in every 200 Australians of European origin. It causes the body to absorb too much iron resulting in iron overload. The excess iron is stored in your organs, especially the liver, heart and pancreas. There are other causes of iron overload including frequent blood transfusions for the treatment of thalassaemia and some haemolytic diseases. 

Iron is absorbed from the diet through the small intestine and the amount absorbed is determined by the body's needs. People with hereditary haemochromatosis (HH) absorb more iron than their body needs. As the body does not have a way to increase excretion of the excess iron there is a progressive build-up of the excess iron in tissues and organs. The symptoms of hereditary haemochromatosis occur in adulthood. Early symptoms include fatigue, joint pain and a loss of well-being. As it progresses, complications can include arthritis, diabetes, liver cirrhosis, heart arrhythmias and failure, loss of libido and a characteristic metallic grey pigmentation of the skin.

About one in eight Caucasians of Northern European descent have one abnormal (mutated) copy of the HFE gene associated with hereditary haemochromatosis and are referred to as carriers. Carriers are not at particular risk for developing iron overload. The carrier status is much lower in other racial/ethnic groups. About one in 200 Caucasians of Northern European descent have two abnormal (mutated) copies of the gene associated with HH and are at risk for developing iron overload and clinical symptoms. Of the people who carry two abnormal copies of the HFE gene about 24 per cent of men and up to 14 per cent of women have been reported to show clinical symptoms.

 


Last Review Date: April 14, 2016