26 May 2006
A Monash University scientist has discovered the location and mechanism of a genetic fault in a common inherited blood condition - alpha-thalassaemia -- which could help determine the causes of other genetic diseases.
Associate Professor Don Bowden, from the Department of Anatomy and Cell Biology, with colleagues from Oxford University and UCLA Berkeley, has identified a previously unknown genetic fault in people with the condition. Their research findings have been published in Science today.
Between five and 10 percent of Australians are genetic carriers of alpha-thalassaemia minor. Their health is not affected and they do not require treatment. However, a couple who are both carriers of alpha-thalassemia minor face a one in four chance of having children with thalassemia major, which is fatal at birth and can also seriously affect the mother's health.
Dr Bowden found the genetic fault causes a disturbance in normal gene regulation and the gene can't perform its normal task, resulting in alpha-thalassaemia.
"This unique mechanism has never been described before in alpha-thalassemia," Dr Bowden said. "It could also be a mechanism applicable to a range of other genetic blood diseases."
"The findings will influence the development of effective therapies for people with thalassaemia.
Dr Bowden said people should take advantage of genetic screening, particularly before having children, to see if they carried a thalassaemia genetic fault.
While Australians from any racial or ethnic origin may be a carrier of the thalassaemia minor condition, the genetic fault occurs more frequently in people from Southern Europe, the Indian sub-continent, the Middle East, Africa and Asian countries. Thalassaemia diseases are a major cause of concern in developing countries which can't afford treatment.
For more information contact Diane Squires, Media Communications on 9905 9315 or 0417 603 400.
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