One of the Ireland’s most common genetic disorders is causing far higher levels of serious disease than we thought.
Haemochromatosis, whereby the body absorbs too much iron from its diet, has been thought of as a relatively simple hereditary condition to treat. All that’s required is for someone diagnosed with the condition to regularly draw blood to decrease the iron count.
However, two new studies have shown that the disorder – the most common in the western world and referred to as the ‘Celtic Curse’ in Ireland because of its prevalence – may be a lot more damaging than we once thought.
Rather than being a low-level health risk, the studies show that haemochromatosis actually quadruples the risk of liver disease, and doubles the risk of arthritis and frailty in older age groups. Not only that, but the findings show that it results in the person having a significantly higher risk of developing diabetes and chronic pain.
The research was led by a group from the University of Exeter in conjunction with the University of Connecticut and the US National Institute on Aging, which published their findings in The BMJ and The Journals of Gerontology: Medical Sciences.
Catching it early is key
The researchers found that in men of European ancestry in Britain, 1.6pc of all hip replacements and 5.8pc of all liver cancers occurred in those with two haemochromatosis mutations.
The study involving almost 3,000 people was 10 times larger than any previous similar study, and it found that one in five men and one in 10 women developed additional diseases if they had the two mutations.
These findings add to a US study across seven health providers that estimated 50pc of men and 25pc of women with the two mutations were diagnosed with haemochromatosis by the end of their lives.
The researchers are now calling on routine screening for people at risk of haemochromatosis to see if they carry the mutation when they are undergoing bloodletting. Due to how common this is, however, it is easily treated.
“This could be one example where a less common genetic variation causes limited disease in the young and middle-aged, but reduces resilience and causes susceptibility to multiple diseases later in life,” said Dr Luigi Ferrucci, scientific director of the National Institute on Aging. “Identifying more of these genetic variants may lead to new treatment targets to ultimately improve health and function in old age. It is possible that many other situations like these exist.”