Viking Genes study highlights genetic risk for Outer Hebrideans

People from the Outer Hebrides have a particularly high risk of a developing a genetic disease that causes a dangerous build-up of iron in the body, a University of Edinburgh study suggests.

The study mapped the genetic risk for haemochromatosis and found that while people with ancestry from north-west Ireland have the highest risk, Outer Hebrideans have the second highest, at one in 62.

The results have led to calls for targeted genetic screening for the condition, to help identify at-risk individuals earlier and avoid future health complications.

The information came to light partly as a result of the 2022 Viking Genes study, which asked volunteers who had at least two grandparents from the Hebrides, Orkney or Shetland to contribute by completing a questionnaire and sending a saliva sample.

One participant, Mairi, from south Harris, discovered that she had Haemochromatosis as a result of taking part in the project. Her story now features on the Viking Genes website.

“I decided to join Viking Genes after seeing a post on Facebook. With three grandparents from Harris and one from Uist, I fit their criteria. It was an easy way to contribute to research and, if anything important came up, I’d be notified. Saying yes to actionable find-ings felt right, not just for myself, but because contributing to medical research could benefit others, too.

“Before my diagnosis, I had never even heard of genetic haemochroma-tosis. Looking back, I’m surprised at how little I knew, especially since, after talking to just a couple of people, I realise how common it actually is in my area.

“When I was diagnosed, I actually felt physically well. I was fortunate to be well looked after by the Western Isles Hospital in Stornoway. They referred me for an ultrasound and arranged a telephone consultation with a liver specialist, since advanced haemochromatosis can affect liver function. Thankfully, my liver was fine.

Following his advice, I booked an appointment with my GP and had a blood test done. The results showed a significantly raised serum ferritin level and a high transferrin saturation. After fasting and taking a second test, my iron levels were even higher.

I was quickly referred to a day clinic for haemochromatosis. I’ve now started a treatment schedule involving regular blood donations to manage my iron levels. It’s a relief to know that I caught this early, before any symptoms appeared or damage occurred.

“If I hadn’t received a letter from Viking Genes, I might never have known about my condition until symptoms appeared. I’m glad I could pre-empt any serious consequences.”

Another local figure affected is local MP Torcuil Crichton, who has joined aca-demics in calling for screening.

"This research writes the case for com-munity-wide screening in the Western Isles, Northern Ireland, and other hae-mochromatosis hotspots,” he said. “This new evidence ought to be enough to persuade the UK National Screening Committee to review its position and approve a pilot screening programme. The Western Isles offers a contained and distinct population sample.

“Early identification, which I was lucky to have, means a whole range of bad health outcomes can be avoided and I’ll be urging Ministers and the Screening Committee to reconsider their stance."

- Find out more about the Viking Genes Hebrides project and support fundraising towards for further research at donate.ed.ac.uk/support/VikingGenesHebrides