A decade ago, some unrelated health concerns led Dr Daniel Johnstone to visit a GP for a battery of medical tests which found elevated iron levels and further tests revealed haemochromatosis – the most common genetic disorder in Australia.
“I was the first in my family to be diagnosed with the condition. My father, who was 50 at the time, subsequently had the genetic test and was diagnosed with haemochromatosis too, which might explain the minor health issues he was suffering at the time,” Dr Johnstone said.
The genetic test to identify haemochromatosis was only developed two decades ago and is yet to be made available for population screening.
“Now that my Dad and I know we have the condition, all we do is donate blood regularly to keep our iron levels stable,” he said. “Haemochromatosis is not a burden in your life if you get on to it early, and the treatment – giving blood – provides a benefit to others.”
Dr Johnstone did his PhD on iron effects in the brain at the University of Newcastle and now researches neuroprotection for older-age diseases including Alzheimer’s and Parkinson’s disease at The University of Sydney.
“Even though I was working on haemochromatosis, I had no idea that I had the condition until I was tested. I feel fortunate it was picked up in my late 20s because it doesn’t usually show symptoms until your 50s when damaging complications can arise.”
He urges young people to take action, ask their doctor for a blood test and if iron levels are high then a genetic test for haemochromatosis, because one in seven people carry the condition. Those of Irish and European descent are more at risk of carrying and inheriting it.
Haemochromatosis Australia President Dr Dianne Prince said fatigue is the main symptom of the condition and early diagnosis is key to managing and reducing complications.
“Recent research showed that undiagnosed haemochromatosis quadruples the risk of liver disease, doubles risk of arthritis and causes higher risk of diabetes and chronic pain,” Dr Prince said.
“The research supports the case for a national screening program to identify those at risk of developing iron overload and associated preventable chronic conditions, but in the meantime it is up to individuals to find out more themselves.”
On behalf of Haemochromatosis Australia, Dr Johnstone and Dr Prince are launching a social media awareness campaign Iron out your health today at the University of Sydney. The campaign seeks to highlight that while the genetic disorder may be tricky to say, it is easy to test, simple to treat and tragic to ignore.
To find out more, view the Haemochromatosis Australia website ha.org.au