A major new study funded by Haemochromatosis UK and headed by Professor Jim Wilson at the University of Edinburgh has analysed genetic data from over 10,000 volunteers and more than 400,000 participants from large population cohorts to identify geographical “hotspots” for haemochromatosis across the UK and Ireland.

The research maps the prevalence of the key C282Y HFE gene variant, which is the strongest genetic risk factor for hereditary iron overload, revealing for the first time which regions have the highest genetic risk for the condition.

Using large, unbiased population cohorts, including understudied communities such as island populations, the study aims to provide robust evidence that will inform future haemochromatosis screening programmes and resource allocation. Volunteers with high-risk results are notified of their genetic status so they were able to seek follow-up care, in a timely manner, helping to prevent serious damage through early detection and treatment.

The analysis shows that people with ancestry from North West Ireland and the Outer Hebrides have the highest frequency of genetic haemochromatosis risk variants, followed by Northern Ireland and certain parts of mainland Scotland such as Glasgow and South West Scotland; living up to it's moniker 'The Celtic Curse'. These findings support targeted genetic screening in high-risk areas as a way to find undiagnosed individuals early, prevent long-term complications (like liver damage and arthritis), and make better use of scarce health resources.

The research aims to improve understanding of who is most at risk of genetic haemochromatosis and strengthen the case for personalised, preventative genetic screening across the UK and Ireland, driving both increased awareness and more effective clinical pathways.

Fernau Award winner, Professor Jim Wilson said: 

‘Our paper will provide high quality evidence to support arguments for screening. In 20 years' time, I believe everyone will be screened...so this is a step towards that future. I hope that when we publish, it will act to raise awareness too.’

‘It’s about changing the old mindset to a new one...what’s better than being fixed when you are broken would be to prevent illnesses like haemochromatosis...it will save money in the long run for the NHS. That's why I believe in it so strongly, it’s personalised, it’s preventable.’

CEO Jonathan Jelley said: 

Although there are other forms and genotypes that can lead to iron overload, available research indicates C282Y presents as the greatest risk. This hugely important work has the potential to lead to greater targeted awareness, increased diagnosis and better treatment pathways for thousands of people affected by genetic hemochromatosis.

As a charity we have already begun work on targeting and prioritising hotspot areas of the UK for support including with our National Helpline and clinician education. Using this study we will continue to campaign for better allocation of public resources to this preventable condition that is all too often overlooked."