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Blood test can now detect Australia’s most common genetic condition

Haemochromatosis is a common genetic disorder.

Edith Cowan University (ECU) researchers have developed a way to use data already gathered in Australia’s most commonly ordered blood test to detect the iron overload disorder HFE Haemochromatosis.

Haemochromatosis is the most common genetic disorder affecting people of Northern European descent and results in too much iron being absorbed by the body.

If left untreated, it can lead to arthritis, cirrhosis of the liver, heart disease, diabetes mellitus and certain forms of cancer.

Haemochromatosis is commonly asymptomatic or can manifest with symptoms of fatigue and lethargy.

Researchers from Edith Cowan University have found a way to detect haemochromatosis using the results of the Full Blood Count – a standard test used every day to diagnose a range of other conditions.

Lead researcher Professor John Olynyk, who is also the Head of Gastroenterology at Fiona Stanley Fremantle Hospital Group, said the ability to detect the condition early would greatly benefit sufferers.

“We know that the earlier we are able to detect haemochromatosis, the sooner treatment can start and the better the outcomes are for sufferers,” he said.

“The treatment for haemochromatosis is to start regularly donating blood. By donating blood, people with haemochromatosis not only reduce the amount of iron in their body, they also provide a donation that could save another person’s life.”

Research already bearing fruit

Professor Olynyk said the new discovery could be rapidly incorporated into everyday practice, meaning sufferers wouldn’t have to wait years for the research to bear fruit.

“This can be done immediately,” he said.

“In fact, the results of the research have already been incorporated into Primary Health Care Pathways used by doctors to guide detection of this condition in Western Australia, with other states taking similar steps.

“We estimate that by analysing the 12 million Full Blood Counts that are already carried out in Australia each year, we could detect 34 per cent of untreated men and 63 per cent of untreated women with haemochromatosis.

“This research is a great example of how clinical research can take something that we are already doing and extract even more benefit out of it.”

Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests’ was recently published in Blood Cells, Molecules and Diseases.


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