Mairi had no symptoms at all. She is a volunteer in the Viking III 'Hebrides' Study. As part of the Viking Genes return of results programme that started in 2023, Mairi found out that she has an actionable variant in the haemochromatosis (HFE) gene. Professor Jim Flett Wilson wrote to Mairi to find out what happened after she received the letter from him reporting that we had discovered an actionable variant in the haemochromatosis (HFE) gene in her DNA sample. Dear Mairi,I'm the Chief Investigator of Viking Genes and I'm writing in connection with the letter I sent you in January about your actionable variants in the HFE gene, which can cause haemochromatosis. I'd like to follow up a little on what happened next, if you would be willing to share that with me? It would help me to understand the impact of my letters if you'd be willing to answer a few questions. Thanks for your consideration.I don't know for instance if you already knew that you had haemochromatosis?Or, if you didn't, whether you followed up, as I suggested, with the NHS?If you did go on to be tested by your doctor, did it transpire that you were loading iron?And, if you were, have you been given treatment, such as venesection (giving blood)? I hope that your serum ferritin and transferrin saturation levels get back to maintenance levels as soon as possible.Professor Flett Wilson said: One final thing, we find that the most powerful way of making the case for the good that Viking Genes can do, and to help raise awareness with the public and with government and other funders, is to tell the stories of people who have been affected by our work. One way we do this is to feature people in our quarterly online newsletter - would you be willing to tell your story in the next newsletter? We are going to feature haemochromatosis, which it turns out is more common in the Western Isles than elsewhere.Thanks again for any help you can give.All the best,Professor Jim Flett WilsonMairi replied: Hi Jim, Update on my HH. I recently visited my GP to have a blood test done. The serum ferritin test produced a significantly raised level. The transferrin-saturation level was also on the high side, so I was asked to give another blood sample after fasting.The second blood test actually produced a higher value, so I was then referred to a day clinic for haemochromatosis.I was referred for a liver ultrasound (no damage to my liver) and I am currently on a schedule of giving blood to control my iron levels.Mairi went on to say: Please note that I attended for these blood tests purely as a result of the Viking Genes genetic testing - I had no symptoms at all, and in fact, I was feeling particularly well physically at the time.I am grateful to Viking Genes for highlighting this risk, allowing me to confirm the existence of the condition, and to have appropriate treatment at a point where I was still asymptomatic, as it seems likely that I would have experienced some effects of the condition in due course.Please share my story.MairiHaemochromatosis is more common in the Outer Hebrides and in Skye than anywhere else in the UK. One in 62 people carry the same gene variants as Mairi and are therefore at much higher risk of the disease. If you’d like to read more about this research, visit the link below.The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland > https://viking.ed.ac.uk/landscape-hereditary-haemochromatosis-risk-and-diagnosis-across-british-isles-and-ireland So we can help people like Mairi, please support Viking Genes Hebrides fund This article was published on 2025-11-05
