Genetic Disease Hotspots Identified in the UK and Ireland
A recent study has revealed that individuals from the Outer Hebrides and northwest Ireland face the highest risk of developing a genetic disease characterized by an excessive accumulation of iron in the body. This condition, known as haemochromatosis, has been dubbed the 'Celtic curse' due to its high prevalence among Scottish and Irish populations.
The research marks the first comprehensive mapping of the genetic risk for haemochromatosis across the UK and Ireland, despite its well-documented incidence in these regions. Experts suggest that prioritizing genetic screening in these areas could significantly improve early detection and prevent future health complications.
Haemochromatosis symptoms can develop over decades as the body's iron levels damage organs. Early diagnosis and treatment, such as regular blood donation to reduce iron levels, are crucial in preventing liver damage, liver cancer, and arthritis. The condition is caused by genetic variants, with the C282Y variant being the most significant risk factor in the UK and Ireland.
Scientists from the University of Edinburgh analyzed genetic data from over 400,000 individuals in the UK BioBank and Viking Genes studies to assess the prevalence of the C282Y variant across 29 regions of the British Isles and Ireland. They discovered that individuals with ancestry from northwest Ireland have the highest risk of developing haemochromatosis, with one in 54 people estimated to carry the genetic variant. This is followed by Outer Hebrideans (one in 62) and those from Northern Ireland (one in 71).
Mainland Scots, particularly in Glasgow and southwest Scotland, also face an elevated risk of the condition, with one in 117 people estimated to carry the variant, further supporting the 'Celtic Curse' nickname. The combined genetic risk in these locations suggests that focusing genetic screening in these areas would yield the highest number of individuals with the condition.
The research team also examined haemochromatosis diagnoses across NHS England and identified over 70,000 cases. Interestingly, the diagnosis rate was nearly four times higher in white Irish individuals than in white British individuals. Among white British individuals, those from Liverpool were 11 times more likely to have a diagnosis than those from Kent, which the research team attributes to historical immigration from Ireland, with over 20% of Liverpool's population being Irish in the 1850s.
The study highlights that the prevalence of haemochromatosis in England generally aligns with the genetic risk pattern, but some regions, such as Birmingham, Cumbria, Northumberland, and Durham, have lower diagnosis rates than expected. These areas of potential under-diagnosis in England could benefit from genetic screening to uncover additional cases.
The study, funded by the charity Haemochromatosis-UK and conducted in collaboration with RCSI University of Medicine and Health Sciences, has been published in the journal Nature Communications. The findings emphasize the importance of community-wide genetic screening in high-risk areas to identify individuals at risk of this preventable illness and improve health outcomes.
Professor Jim Flett Wilson, Chair of Human Genetics at the University of Edinburgh, stated, 'If untreated, haemochromatosis can lead to severe complications like liver cancer and arthritis. Our research has shown that the risk in the Hebrides and Northern Ireland is significantly higher than previously thought, with approximately one in every 60 people at risk, half of whom will develop the disease. Early detection is crucial, and a simple treatment, such as blood donation, is available. It's time to implement community-wide genetic screening in these high-risk areas to identify as many individuals as possible at risk of this preventable illness.'
Jonathan Jelley MBE JP, CEO of Haemochromatosis UK, added, 'While other forms and genotypes can cause iron overload, the C282Y variant poses the greatest risk. This groundbreaking work has the potential to lead to more targeted awareness, increased diagnosis, and improved treatment pathways for thousands of individuals affected by genetic haemochromatosis. As a charity, we have already initiated efforts to target and prioritize hotspot areas in the UK for support, including our National Helpline and clinician education. We will continue to advocate for better allocation of public resources to address this preventable condition, which is often overlooked.'
Torcuil Crichton, the Labour MP for Na h-Eileanan an Iar (the Western Isles), who has haemochromatosis, supports the call for community screening for haemochromatosis genetic variants in the Western Isles. He believes that this research strongly advocates for community-wide screening in the Western Isles, Northern Ireland, and other haemochromatosis hotspots.
Crichton said, 'This research strongly supports the case for community-wide screening in the Western Isles, Northern Ireland, and other haemochromatosis hotspots. I have previously raised this issue with Ministers in the House of Commons, and this new evidence should be sufficient to persuade the UK National Screening Committee to review its position and approve a pilot screening program. The Western Isles provide a contained and distinct population sample to begin with.'
'Early identification, as I was fortunate to receive, can prevent a range of adverse health outcomes. I will urge Ministers and the Screening Committee to reconsider their stance.'
The study's findings have been made public, and the URL for the published article is available upon request.
