Genetic disorder dubbed ‘Celtic curse’ afflicts one in five men who carry mutation with liver disease or joint issues
A “stealth disease” which causes iron to build up to toxic levels may be responsible for thousands of cancers and disabling joint problems written off as part of ageing, a British study has found.
Hereditary haemochromatosis is one of the most common genetic disorders among people of European descent but it had previously only been thought to harm around 1 per cent of people carrying the mutation.
But in the largest study to date, a team of UK and US researchers estimate as many as one in five men and one in 10 women, with both genes affected, were affected by haemochromatosis and another harmful condition linked to the iron overload.
Researchers now think 1.6 per cent of all hip replacements and 6 per cent of liver cancers in men are directly down to the disease when early warning signs like joint pain and fatigue are missed.
“The haemochromatosis mutations were thought to only rarely cause health problems,” said Professor David Melzer from Exeter University, who led the research published in The BMJ.
“We’ve shown that hereditary haemochromatosis is actually a much more common and stealth disease, including in older people,” he added, calling for better sytems to screen for the condition.
People with the mutation absorb about twice as much iron from their diet as those without it. While much of this is turned into red blood cells, above threshold the body cannot remove it and deposits it around the body – particularly in the liver.
Over time this has a toxic effect and the study estimates the mutation quadruples carriers’ risk of liver disease, and doubles their chances of arthritis, as well as increasing rates of diabetes and chronic pain.
Around 250,000 people in the UK and one in 200 in Europe are thought to have the condition but its prevalence in Ireland has led to it being dubbed the “Celtic curse”.
Gwenda McInerney, 72, was diagnosed in 1987 after years of feeling fatigued, and went on to set up the Irish Haemochromatosis Association to help support patients and raise awareness
“I came from a totally medical family, but all of my doctor siblings and my mother said ‘you can’t have it, you’re a menstruating woman’,” she told The Independent. Other doctors she would be alongside in radio interviews would come prepared with a two-paragraph excerpt from medical textbooks – the extent of their knowledge.
Poor awareness likely means many people who died of cirrhosis of the liver missed treatment that could have helped them, Ms McInerney said, and some may even have had their condition made worse.
“I remember when I was pregnant they tried to pump iron into me,” she added. “They thought I was anaemic and needed iron, but I could have sold it to them!”
Haemochromatosis is easily tested for and treated by regularly drawing blood – known as venesection – but the broad symptoms like fatigue and pain mean the condition is still too easily a last thought.
‘There just isn’t enough knowledge’ says Ruth Jones after a nine month search for a diagnosis (Ruth Jones )
Ruth Jones, 38, from Stamford, Lincolnshire, was a regular long-distance runner but saw her GP in September 2017 with extreme fatigue and aching which went well beyond age-linked fatigue.
It took nine months for her to be diagnosed, after a “catalogue of errors”, and she said said awareness needs to be addressed because these delays can increase health complications.
“It seems to be a theme across the country,” she said.“There just isn’t enough knowledge about the condition in the medical profession.”
Professor Melzer’s team studied 2,890 patients enrolled the UK Biobank scheme who carry mutations in the HFE C282Y gene that causes the condition.