A new study has mapped genetic hotspots across the UK and Ireland for haemochromatosis, a genetic condition causing dangerous iron build-up in the body, often referred to as the “Celtic Curse.” The research, published this month, identifies areas with significantly higher concentrations of the genetic variant C282Y, the most important risk factor for the condition in the region.
The Outer Hebrides and north-west Ireland exhibit the highest risk levels, with approximately one in 54 people in north-west Ireland and one in 62 people in the Outer Hebrides estimated to carry the genetic variant. Northern Ireland follows closely, with an estimated one in 71 carriers. Mainland Scotland, particularly Glasgow and southwest Scotland, also shows increased risk, with one in 117 people carrying the variant.
Haemochromatosis symptoms develop gradually over decades as excess iron accumulates, causing damage to organs. Early diagnosis and treatment are crucial to prevent severe health complications, including liver damage, liver cancer, and arthritis. Treatment typically involves regular blood donation to reduce iron levels.
Scientists at the University of Edinburgh analysed genetic data from over 400,000 individuals participating in the UK BioBank and Viking Genes studies to determine the prevalence of the C282Y variant across 29 regions of the British Isles and Ireland. The study marks the first comprehensive mapping of genetic risk for haemochromatosis in these regions, despite the condition’s known high incidence among Scottish and Irish populations.
Researchers suggest that focusing genetic screening efforts on these identified hotspots could lead to earlier detection of at-risk individuals. The condition is caused by genetic variants passed down through families. The study’s findings corroborate the historical association of the condition with populations of Celtic ancestry, hence the nickname “Celtic Curse.”
Recent data indicates that Liverpool residents are particularly vulnerable, with rates of haemochromatosis estimated to be eleven times higher than those in Kent. While the study does not detail the specific prevalence within Liverpool, it reinforces the broader pattern of increased risk in areas with significant Celtic ancestry.
Experts emphasize that while genetic predisposition is a key factor, not everyone who carries the C282Y variant will develop significant health problems. But, awareness of the risk and access to genetic testing are vital for early intervention and management of the condition.
