Haemochromatosis
Iron is essential to the body. However, too much or too little iron can lead to health problems. Too little iron in the body results in anaemia. Too much iron may occur in an inherited (ie genetic) condition called haemochromatosis (he-mo-kro-ma-toe-sis). This may lead to a build-up of iron, causing damage to major organs, such as the liver and heart, but is treatable and preventable by giving blood. Haemochromatosis is a common condition, affecting around 1 in 300 Australians, and there is one gene change that causes over 90% of hereditary haemochromatosis (C282Y). Screening for haemochromatosis has been advocated but before it can be implemented we need to know more about dietary and lifestyle factors that contribute to the variable clinical picture of the condition. The Centre for MEGA Epidemiology coordinates two studies in this area.
The 'HealthIron' study will provide important data on the risk factors that influence clinical presentation and the association of the two main changes in the HFE gene that can increase the risk of developing the condition. The overall aim of this project is to evaluate the association of environmental factors, in particular dietary and lifestyle factors, with clinical expression in HFE mutation carriers using the resources of the Melbourne Collaborative Cohort Study, a multi-ethnic cohort of over 41,000 men and women aged 40-69 years at enrolment. This will be the first prospective epidemiological study of environmental modifiers of clinical expression for haemochromatosis and the only study for which more than 10 years of follow-up is already available for a large number of C282Y homozygotes (n=160), many of whom will not have been previously detected.
The 'Haemochromatosis Follow-Up Study', based at the Royal Melbourne Hospital, monitors haemochromatosis patients over several years to help determine the proportion of people genetically at risk of haemochromatosis who actually develop the condition 'penetrance') and the effect of treatment on reversing and/or preventing symptoms. It will also detail the personal impact of genetic screening. The study will have important implications for the design and management of future screening programs, both for haemochromatosis and other conditions.
For further information about haemochromatosis please visit the following websites.
- The Haemochromatosis Society (England)
- Haemochromatosis.org.au
- AustralianDoctor.com.au information sheet (pdf 32kb)
- Your Genes, Your Health
- Genetic Health Victoria
For further information about the HealthIron or Haemochromatosis Follow-Up Study please contact Ms Amy Nisselle, HealthIron Clinical Coordinator, on 8344 0860 or by email at a.nisselle @unimelb.edu.au