It is known as the ‘Celtic Curse’, a potentially fatal genetic condition which has an unusually high prevalence among those with Scottish and Irish ancestry.
And now, in a radical bid to cut the number of deaths from haemochromatosis, researchers have written to 50 Scots informing them they have the disease.
The individuals were identified from genetic information stored on a specialist database originally set up to find women in Orkney who were particularly prone to gene mutations linked to breast and ovarian cancer.
The ‘Viking Genes’ database holds information on around 10,000 people with at least two grandparents from Orkney, Shetland and the Western Isles, but fresh analysis of the database has now uncovered a separate group with the pathogenic genes that cause haemochromatosis.
The most common genetic condition in Scotland, it causes a build-up of iron in the body, which can lead to a range of serious health issues, from diabetes to liver cancer and heart failure.
Around one in 100 Scots are thought to carry the gene variant and researchers hope they can save more lives by pinpointing carriers and improving screening.
While most of those in the database are scattered across island communities, many are known to live in Glasgow, Edinburgh and Aberdeen.
There is no cure for the condition, but treatment is straightforward and outcomes good, particularly if caught at an early stage.
Miranda McHardy died in March 2023 at the age of 59 after a lifetime of ill health linked to the Celtic Curse
Miranda McHardy and her brother, estate owner Sir George Forbes-Leith, were diagnosed with genetic haemochromatosis around the same time
Lead researcher Professor Jim Flett Wilson, from Edinburgh University, set up the Viking Genes database to pursue his groundbreaking work on mutations of the BRCA1 and BRCA2 genes, which led to mass community cancer screening and treatment for women on Orkney.
Prof Wilson said it became clear that his research could also be applied to seeking out haemochromatosis sufferers.
He told Scotland on Sunday: ‘These letters only went out three weeks ago. People need to digest the information. Some of these people will need treatment.
Some of them might not, but it is better to know. This is part of the whole idea of preventative medicine rather than waiting until you are broken and you are harder to fix.’
Those who suffer from haemochromatosis report a range of symptoms, from extreme tiredness to mood swings, brain fog, weakness, joint pain, balance problems and itchy skin.
While there is no cure, relatively simple treatment can effectively bring down iron levels, with patients undergoing regular venesections – similar to blood donation.
If untreated, a build-up of iron in the body damages vital organs over time.
Prof Wilson said the Viking Genes research into cancers had led to ‘multiple instances’ of people’s lives being saved, with those affected seeking out check-ups and going on to get treatment and then the all clear.
He said: ‘And they say, “It is because of your letter that I went and did this”. We predict something similar will be going on in households across Scotland as people are reading these letters and being checked.’
Prof Wilson aims to build up a nationwide map of cases following a grant from leading charity Haemochromatosis UK, whose chief executive Neil McClements said that haemochromatosis was a ‘massively underdiagnosed’ condition.
He added: ‘The map will be incredibly useful. If you are trying to run a centralised healthcare system like the NHS, if you don’t know where your patient groups are it is very hard to allocate resources to the right geographic area.’
Prof Wilson said a 4,000-year-old skeleton excavated on Rathlin Island off the coast of Northern Ireland was found to have the gene variant suggesting there may be one ‘founder individual’ thousands of years ago from whom all modern-day sufferers descend.
Sir George Forbes-Leith, who owns Fyvie Estate in Aberdeenshire, welcomed the new research.
He was diagnosed around four years ago, roughly the same time as his sister, Miranda McHardy, who had trouble with her heart, kidneys and liver throughout her life.
Haemochromatosis is an overload of iron in the blood that, if left untreated, can start to attack the organs and cause serious illness.
Normal iron levels in the blood are around 100 but, following testing, it emerged Mrs McHardy’s levels were at 5,000 while her brothers were at around 1,200.
Ms McHardy, 59, of Banchory, Aberdeenshire, died from complications from haemochromatosis in 2023.
Sir George, 57, continues to be treated for the condition by undergoing six-monthly venesections, which remove blood from the body to bring down iron levels in a process much like giving blood.
‘Once the iron levels went down, the tiredness went away,’ he said. ‘I feel a lot more alert during the day.’ Sir George added: ‘The cure is not drugs, the cure is simply becoming a blood donor.’
