Individuals have been cautioned about regions with a high prevalence of a hereditary condition referred to as the “Celtic Curse,” which can result in severe health issues like cancer if not addressed.
A recent research study has revealed that individuals from the Outer Hebrides and north-west Ireland face the greatest risk of developing haemochromatosis, a condition that leads to an unhealthy accumulation of iron in the body and, if left untreated, can cause liver cancer, arthritis, and other significant health complications.
Researchers have conducted the first comprehensive study mapping the genetic susceptibility to haemochromatosis across the UK and Ireland, focusing on the notably high occurrence of the condition among Scottish and Irish populations.
Experts suggest that concentrating genetic screening efforts on priority regions could facilitate the early identification of individuals at risk for the condition.
The research team explained that symptoms of haemochromatosis may develop over several decades as elevated iron levels in the body lead to organ damage. However, early detection and treatment, such as regular blood donation to reduce iron levels, are crucial in preventing liver damage, liver cancer, and arthritis.
This condition arises from minor alterations in DNA, known as genetic variants, which can be inherited within families. Scientists highlight a genetic variant called C282Y as the primary risk factor in the UK and Ireland.
Researchers at the University of Edinburgh analyzed genetic data from over 400,000 individuals in the UK BioBank and Viking Genes studies to determine the prevalence of the C282Y variant across 29 regions in the British Isles and Ireland.
Published in the journal Nature Communications, the findings indicate that individuals with ancestry from north-west Ireland are at the highest risk of haemochromatosis, with an estimated one in 54 individuals carrying the genetic variant.
Following this region are individuals from the Outer Hebrides (one in 62) and Northern Ireland (one in 71). Mainland Scots, particularly in Glasgow and south-west Scotland, also face an elevated risk, with an estimated one in 117 individuals carrying the variant, validating the moniker “Celtic Curse” as per the researchers.
The team suggests that the cumulative genetic risk in these areas warrants a focus on genetic screening to identify a larger number of individuals with the condition. The researchers also examined haemochromatosis diagnoses in NHS England, identifying over 70,000 cases.
Diagnoses were nearly four times higher among white Irish individuals compared to white English individuals. Notably, individuals from Liverpool were 11 times more likely to receive a diagnosis than those from Kent among white English individuals, potentially due to historical Irish immigration to Liverpool, where over 20% of the population was Irish in the 1850s.
While the prevalence of haemochromatosis in England generally aligns with genetic risk patterns, some regions like Birmingham, Cumbria, Northumberland, and Durham have lower-than-expected diagnosis rates. Scientists propose that potential under-diagnosis in these English regions could be addressed through genetic screening to unveil additional cases.
Data on haemochromatosis prevalence from the NHS is unavailable for Scotland, Wales, and Northern Ireland, hence not included in the analysis.
Professor Jim Flett Wilson, chair of human genetics at the University of Edinburgh, emphasized the significance of early detection and treatment in preventing adverse outcomes associated with haemochromatosis, advocating for community-wide genetic screening in high-risk areas.
Jonathan Jelley, CEO of Haemochromatosis UK, which funded the study, highlighted the importance of research on the C282Y variant in addressing iron overload, potentially leading to improved awareness, diagnosis, and treatment avenues for affected individuals.
Torcuil Crichton, the Labour MP for the Western Isles and a haemochromatosis patient, supports community screening for genetic variants in haemochromatosis hotspots, emphasizing the need for early identification to prevent negative health outcomes.
He urged the UK National Screening Committee to consider a pilot screening program in the Western Isles, Northern Ireland, and other high-risk regions based on the research findings.
These insights have the potential to drive targeted awareness, improved diagnosis rates, and better management strategies for individuals affected by genetic haemochromatosis, ultimately advocating for better resource allocation to address this