Simple swab test could help detect common genetic blood disorder, preventing deadly medical condition
A common genetic blood disorder is going undetected among thousands of Australians, but a simple swab test could help treat it.
If caught early, treatment can help prevent serious complications like liver disease and heart problems.
Chris Baxter, 27, is credited with saving his dad’s life - and that of three other relatives - thanks to a chance medical test he took in high school.
The young Melbourne man was diagnosed with haemochromatosis - where the body absorbs and stores too much iron from food. As a result, his family was tested and diagnosed, too.
It’s the most common genetic disorder in Australia but researchers say it’s under-diagnosed.
The bond between a father and son is unique - but Chris and David Baxter share a rare connection.
“I remember saying to my dad ‘Should I do it?’ and he said ‘Yeah, why not?’” Chris told 7 News.
“And I did and it turns out that was a very prudent decision.
“Sometimes your heritage can surprise you. There’s always the chance a mix up in the family tree - someone comes from somewhere they thought they didn’t.”
While the young man is credited for saving three lives including his own, the humble hero played down the feat.
“When all of this came out and my uncle got treated, he sent me a letter. He said that I’d saved his life, and I guess I did, but at the same time I don’t want to accept that, because it’s pretty sappy.”
Researchers have discovered that even those with moderate iron levels can be treated, and consequently saved from disease. They're encouraged to give blood regularly.
“Undetected haemochromotosis can cause liver cirrhosis, liver cancer, and can shorten life span - and that’s all completely preventable,” Monash Children's Institute's Professor Martin Delatycki said.
“When you remove a unit of blood you’re removing iron from the body and then more red cells are made, removing the dangerous cells from the liver and other organs.”
A simple cheek swab can diagnose the condition. It takes around 10 seconds and costs just $50.
Researchers now want the government to fund the test for all Australians, but in the meantime the swabs are available at any GP.
