Haemochromatosis is a hereditary disease characterised by excessive absorption of dietary iron, which results in lethargy, weakness, diabetes, arthritis, and liver damage. Most people are unaware that they have the disease until liver damage is well advanced.
Haemochromatosis is one of the most common genetic disorders, affecting 1 in 300 Australians. The main cause of haemochromatosis is the major HFE gene mutation. One in 200 Australians have two copies of the major mutation in the HFE gene and 70-80 % of these people are likely to accumulate excess iron.
Iron-loading anaemias (including thalassaemia and haemolytic anaemias)
Anaemia is a condition where the level of red blood cells or haemoglobin in the body is insufficient to effectively transport oxygen. The iron-loading anaemias are uncommon syndromes where defective red blood cells are made.
Severe cases of anaemia are associated with symptoms including weakness, fatigue and dizziness. It is estimated that approximately 30 % of the world’s population suffer from anaemia; mainly due to iron deficiency, though other factors including inflammation, vitamin deficiency, parasite infection and inherited disorders can also cause the condition (Source: WHO).
Our research focuses on:
- identifying the less common (non-HFE) genetic origins of haemochromatosis and other iron-overload conditions
- investigating how iron metabolism is regulated by the liver
- examining the key molecules involved in anaemia and iron-overload conditions
- understanding iron nutrition and supplementation during pregnancy
- researching the role of iron in cystic fibrosis.