The 'Celtic Curse': 50 Scots receive letters of disease diagnosis after breakthrough research

Haemochromatosis is the most common genetic condition in Scotland with work ongoing to improve prevention of serious illness among patients.

Around 50 Scots have received letters informing them they have the gene linked to a disease dubbed the ‘Celtic Curse’ given its high prevalence across Scotland and Ireland.

The new cases follow fresh analysis of the ‘Viking Genes’ database, which holds information on around 10,000 people with at least two grandparents from Orkney, Shetland and the Western Isles.

The database has been used to detect those with the pathogenic genes that cause haemochromatosis - the most common genetic condition in Scotland.

People on the Shetland Isles have also contributed to the Viking Genes study. New analysis has offered up hope to those affected by genetic variants that can cause serious illness if left untreated. | AFP via Getty Images

While the majority of those in the database live in the island groups, many are known to live in Glasgow, Edinburgh and Aberdeen.

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Haemochromatosis causes a build up of iron in the body, which can lead to a range of health issues, from diabetes to liver cancer and heart failure.

Estimates suggest up to one in 100 Scots carry the gene variant, with the research aiming to refine numbers and the location of carriers in a bid to improve screening and increase prevention of serious health issues.

Professor Jim Flett Wilson, from Edinburgh University, who set up the Viking Genes database, has led the research.

It follows his breakthrough work on mutations of the BRCA1 and BRCA2 genes, which are linked to a higher incidence of breast and ovarian cancer, among women in Orkney, with his findings leading to mass community screening and treatment.

Prof Wilson said: “I became aware that haemochromatosis is known to be very common in Scotland and indeed Ireland, and either Ireland or Scotland is probably the highest in the world.

“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.”

Professor Jim Flett Wilson, of University of Edinburgh, who has led the Viking Genes project for more than 20 years. | contributed

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.

“This is part of the whole idea of preventative medicine rather that waiting until you are broken and you are harder to fix. “

Prof Wilson said there was a range of theories over why the ‘Celtic Curse’ was so prevalent in Scotland and Ireland. A 4,000-year-old skeleton excavated on Rathlin Island off the coast of Northern Ireland was found to have the gene variant.

Prof Wilson said: “That skeleton was a carrier of haemochromatosis. So it has been in Northern Ireland and Scotland area for 4,000 years bare minimum.”

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He added: “I think that everybody in Scotland and in Ireland and England who has this variant, they all descend from a person 4,000, 5,000, 6,000 years ago and everyone is a descendant of this founder individual. That is all that has happened. They haven’t moved all that much and they are all still there.”

Prof Wilson’s discovery of the new cases follows a grant from Haemochromatosis UK, with the funding to produce a nationwide map on cases. A total of 29 regions are being plotted, including nine in Scotland.

Prof Wilson said: “I strongly believe there should be screening, so I saw the chance to do a study to ask the question where in England, Scotland Ireland and Wales is the most common, where are the hot-spots, are there any cold spots

“So far it is very vague, so we have looked in 29 regions and we are still finishing it off to make a map.

“When eventually screening does happen when we persuade the powers that screening would be a good idea as it prevents disease down the line and saves money, there is not going to be [anyone] saying ‘let’s have everyone in Scotland or Britain screened’. They are going to have to start somewhere and you should start where there is the most haemochromotosis. So our map, people will be able to use it as a guideline of where should screening be started.

“It is going to be an interesting scientific question, but it has an immediate and direct practical purpose. It is about ensuring that the people of Scotland get good healthcare based on evidence.”

Data from England will come from the DigiTrials bank of more than 63 million patient records.

Neil McClements, chief executive of Haemochromatosis UK, said: “Haemochromatosis is a relatively common condition in Scotland. It is massively underdiagnosed, so the work that the charity has been doing - and we are in our 35th year - supports people at risk and those affected by the condition. But we also try and stimulate research to improve clinician and public awareness.

“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.

“In Scotland, there is a kind of belt [of cases] that runs right the way across from Aberdeen to Inverness and right across to the Western Isles. It is particularly prevalent in that kind of arc and there are historical reasons behind that.

“Island communities are close familial communities. So what you end up with is a situation where people tend to be born, live, grow up, maybe travel off the island, come back to the island to have a family and they do that with other people who follow a similar pattern.

“So you end up with a concentration of the gene pool and that is why in the Western Isles it is particularly prevalent.”

Mr McClements said NHS Western Isles was “particularly good” at treating those with haemochromatosis.

CASE STUDY

Linda Milne, 75 from Kirkwall

Linda Milne first took part in a DNA study of those with Orkney grandparents in the 1990s and was later traced by researchers to tell her she had haemochromatosis.

She said: “By then, I hadn't felt good for a long time but nobody seemed to know what was wrong with me. When I found out I felt like there was light at the end of the tunnel.”

For Mrs Milne, a mother of three, a major side effect of her “nasty” illness was a loss in balance.

She said: “I had been out for a walk with my mum and dad and daughter and I felt so dizzy and horrible. For around nine years, I was not right. I couldn't stand in queues. I would hang onto walls.

“Sometimes, I could collapse. I had nine years of misery. I think folk thought I was putting it all on so I never said much about it. I had this terrible tiredness. The other major side effect for me was itchy skin.

"I had to fight this for so long that I think it made me a stronger person. I wouldn't give into it but it was really, really tough.

After diagnosis, Mrs Milne started venesections to draw blood from her body and reduce iron levels.

She described the process as "extremely awful to begin with", although the process did improve as her iron levels started to come down.

"My doctors at Skerryvore Practice and the Balfour Hospital have looked after me so well. They have been amazing.

“I feel like I am one of the lucky ones. Around five days after the first treatment, I felt like a new human being."

Treatment is ongoing but Mrs Milne knows exactly when her iron levels need adjusted.When she was younger, Mrs Milne's mother knew when her daughter was unwell given a change in her eyes. Her eyes would improve following menstruation and then get worse again over the course of her cycle, she said.

Mrs Milne's family line on Orkney goes back to the 1700s with many family members suffering poor health over time. Her great uncle died aged 32 with other relatives leading short lives. One of her three children also has haemochromatosis.

Mrs Milne said looking after her health was now part of her life.

"I don't eat things that are overloaded with iron. I don't eat red meat or drink red wine or orange juice. I play golf and go to the gym. I am looking after myself. I don't want to be a burden to my children."