Haemochromatosis is a hereditary disease characterised by excessive absorption of iron from the diet. Although iron is essential for good health, having too much iron can be detrimental. The body normally has a finely tuned regulatory mechanism to make sure iron levels remain within the optimal range. In patients with haemochromatosis, this regulation does not work very efficiently and affected individuals continue to absorb iron even though their body already has enough. The symptoms associated with excess iron are highly variable. Many people will not show any signs of disease at all. Others might experience relatively mild symptoms, such as lethargy or weakness. Yet others can be more severely affected and develop arthritis, diabetes, liver damage or heart disease. Rarely, haemochromatosis can be life-threatening.
The term haemochromatosis can be used to refer to a family of related diseases. Most of these are very rare, but one type of haemochromatosis (which results from mutations in the HFE gene) is very common and is one of the most prevalent genetic disorders in Australia. One in 200 Australians has two copies of the major mutation in the HFE gene that predisposes them to iron loading disease. Most of these people will accumulate at least some excess iron, but only 30% of men and 1% of women will accumulate enough iron to lead to clinical symptoms. Nevertheless, this still means that more than 20 000 Australians will be affected with haemochromatosis-related disease at any one time.
Haemochromatosis can be readily treated by bleeding. This is because a great deal of iron in the body is in the red blood cells, and removing blood will thus deplete body iron. If haemochromatosis patients are detected early and treated, then any subsequent health problems can be avoided.
RESEARCH FOCUS
- identifying genetic modifiers of the haemochromatosis phenotype
- investigating the basic mechanisms controlling dietary iron absorption and how they are dysregulated in haemochromatosis
- evaluating the hepatic consequences of excess iron in the body
- defining when, and how aggressively, haemochromatosis patients should be treated