A groundbreaking study has revealed a hidden health threat lurking within certain Celtic populations. The research, a collaboration between the University of Edinburgh and RCSI University of Medicine and Health Sciences, has mapped the highest risk areas for hemochromatosis, a genetic disease causing excessive iron buildup in the body.
But here's where it gets controversial: the study suggests that people from the Outer Hebrides and northwest Ireland face the greatest risk, with one in 54 individuals estimated to carry the genetic variant C282Y, the primary risk factor for hemochromatosis in the UK and Ireland.
Hemochromatosis, often referred to as the 'Celtic curse', can lead to severe health complications if left untreated. Over time, high iron levels damage organs, potentially resulting in liver cancer, arthritis, and other adverse outcomes. Early diagnosis and treatment, such as regular blood donation to reduce iron levels, are crucial to prevent these complications.
The study analyzed genetic data from over 400,000 individuals in the UK BioBank and Viking Genes studies, pinpointing the prevalence of the C282Y variant across various regions. The results highlight the need for targeted genetic screening in these high-risk areas to identify at-risk individuals early and provide appropriate treatment.
And this is the part most people miss: the study also examined hemochromatosis diagnoses across NHS England, identifying over 70,000 cases. White Irish individuals were nearly four times more likely to be diagnosed than white British individuals, with Liverpool showing an 11-fold increase in diagnoses compared to Kent. This trend is believed to be linked to historical Irish immigration to Liverpool.
The prevalence of hemochromatosis in England generally follows the genetic risk pattern, but some regions like Birmingham, Cumbria, Northumberland, and Durham show lower diagnosis rates than expected. Experts suggest these areas could benefit from genetic screening to uncover potential underdiagnosis.
Professor Jim Flett Wilson, Chair of Human Genetics at the University of Edinburgh, emphasizes the importance of early detection and treatment, stating, "The time has come to plan for community-wide genetic screening in these high-risk areas to identify as many people as possible at risk of this preventable illness."
Jonathan Jelley MBE JP, CEO of Haemochromatosis UK, adds, "This hugely important work has the potential to lead to greater targeted awareness, increased diagnosis, and better treatment pathways for thousands affected by genetic hemochromatosis."
The study's findings have prompted calls for community screening in the Western Isles and Northern Ireland, with Torcuil Crichton, the Labour MP for Na h-Eileanan an Iar, supporting the initiative. Crichton, who has hemochromatosis himself, believes early identification is key to avoiding poor health outcomes and urges a review of the UK National Screening Committee's position.
The full study can be found in the journal Nature Communications.
