Professor John Olynyk. Image courtesy of WAIMR

Imagine if eating a healthy diet could kill you. This is the danger for men suffering from hemochromatosis, a hereditary disease that triggers the body to absorb and store too much iron from everyday foods.
 
If left untreated, hemochromatosis can lead to liver disease, cancer and diabetes.

Now a landmark study involving researchers from the Western Australian Institute for Medical Research has paved the way for all Caucasian men – who are those most at risk – in Australia to receive a simple screening test for the disease.

One in every 200 men of mostly northern European descent, including Irish, Scottish and Englishmen – carry the two mutations of the HFE gene that causes hemochromatosis. They are 30 times more likely than women to develop complications from the disease.

University of Western Australia Professor John Olynyk and his team followed the health of 32,000 men with the genetic mutation over 12 years.

“Researchers from WA, Victoria and Queensland collaborated with US analysts to solve the big question – of those who have the mutations, how many will develop health problems?” Professor Olynyk says.

They discovered that nearly a third of the sufferers were likely to develop serious health complications. The problem is that many men are unaware they have the disorder until serious complications have arisen.

“This study should provide enough momentum to ensure every Caucasian man in Australia will now be screened in adulthood,” he says.

There is a reliable test for hemochromatosis but it is only available by request.

“Given that it’s one of the few diseases we have that we can actually pick up during a test and then treat to prevent serious illness, routine screening would be indispensable,” he says.

The disease is treated by removing blood regularly to deplete iron levels.

The researchers are now investigating the apparent increased risk of colorectal and breast cancer in people with mutations in the HFE gene.

Their work was published in the New England Journal of Medicine in January.