Findings from research led by the University of Exeter published in the internationally renowned journal JAMA reveal that men with Australia’s most common genetic disorder are ten times more likely to develop liver cancer and have prompted calls for greater use of simple detection and treatment techniques.
Haemochromatosis Australia welcomes the new findings which highlight the importance of early diagnosis as well as monitoring and treatment of the condition to avoid harm and additional health complications. Previous research has found the occurrence of haemochromatosis in Australia to be similar to that in the UK.
Co-Director of the Bruce Lefroy Centre at Murdoch Children’s Research Institute and Medical Director of Victorian Clinical Genetics Service, Professor Martin Delatycki, said ‘This study provides further data to indicate that early diagnosis of the genetic predisposition to haemochromatosis will enable people to ensure they do not develop iron overload and will prevent ill health and death.
This research supports the case for a national screening program to identify those at risk of developing iron overload and associated preventable chronic conditions here in Australia.’
President Dr Dianne Prince said the new research using UK Biobank data provides the most robust estimates to date of the prevalence of haemochromatosis-associated disease. ‘Awareness of haemochromatosis is more important now than ever as early diagnosis will help save lives, cut health costs and reduce unnecessary suffering for so many individuals and families.’
One such Australian is James Barclay from Wagga Wagga, New South Wales, who was not diagnosed until age 54 and now has liver cancer as a consequence of untreated haemochromatosis. Testing revealed the excess iron accumulated in James’ body for decades had damaged his liver. He was diagnosed with cirrhosis and liver cancer and has been undergoing cancer treatment for the past three years.
‘Haemochromatosis is the most common genetic disorder in Australia with one in 200 affected, yet it is under-diagnosed, partly because its symptoms – including fatigue, depression and joint pain – are confused with a range of other illnesses. These findings show It is a serious condition if undiagnosed or untreated. However genetic detection and testing of iron levels is simple and affordable, and the condition itself is easily treated by donating blood which is simple, safe and effective,’ said Dr Prince.
The new study projected that more than seven per cent of men with two copies of the faulty haemochromatosis genes would develop liver cancer by age 75, compared to just 0.6 per cent in the general population. The study found there was not a significant association in women with faulty haemochromatosis genes.
Previously, the Exeter team found that having the haemochromatosis double faulty gene quadruples the risk of liver disease and doubles the risk of arthritis and frailty in older age groups. It also causes higher risk of diabetes and chronic pain.
Edith Cowan University academic and Fiona Stanley Hospital Hepatologist, Professor John Olynyk says ‘The greatest risk factor and prerequisite for development of liver cancer in subjects with C282Y homozygosity is the presence of cirrhosis. In the absence of this, liver cancer is extremely rare. Globally obesity, alcohol consumption or chronic viral hepatitis are the most common contributors to liver cancer.’
Recent Australian research has shown that haemochromatosis should be treated even when iron stores are mildly elevated.
If haemochromatosis is diagnosed early enough it is completely preventable – those affected need never get sick they simply need to donate blood to maintain their health and normal iron levels.
The paper is entitled Atkins JL, Pilling LC, Masoli JAH, et al. Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancy. JAMA. 2020;324(20):2048–2057. doi:10.1001/jama.2020.21566
Available for interview:
- Dr Dan Johnstone, Haemochromatosis Australia
- James and Anne Barclay, who have been affected by liver cancer and haemochromatosis
- Professor Martin Delatycki
- Professor John Olynyk
Support, advocacy and health promotion group for people affected by the common genetic condition haemochromatosis.
M: 0411 145 771