A new study, funded by Haemochromatosis UK, in collaboration with University of Edinburgh aims to provide robust evidence for future haemochromatosis screening programmes by showing which geographical areas are most at-risk of the condition.

With over 10,000 volunteers worldwide, the project analyses data from volunteer cohorts across Scotland, Ireland, and England, to help locate ‘hotspots’ for haemochromatosis.  

Chief Investigator of the Viking Genes project, Professor Jim Wilson says that the project will provide robust evidence for future haemochromatosis screening programmes by showing which areas are most at-risk of the condition and most in-need of those resources. Like few of its kind, the study uses data from understudied areas such as the Inner and Outer Hebrides, and understudied minority groups, ensuring a thorough analysis of UK populations. The findings will increase public and healthcare professionals’ understanding of the prevalence of haemochromatosis, and who is most at risk of developing the condition.

Mapping out pathogenic (disease-causing) variants of the HFE gene, the project will increase awareness of haemochromatosis across the British Isles and Ireland. Providing ‘actionable findings,’ to volunteers, Professor Wilson’s team writes to inform them if they have pathogenic genotypes. With this information, volunteers can go to their healthcare providers for next steps, helping to prevent serious damage caused by the condition if left unidentified.

How did you hear about Haemochromatosis UK?

‘I became aware of the charity through the Aberdeenshire screening campaign following Miranda McHardy’s death. We've been studying genes in the North of Scotland for 20 years, and in the last 5 years, our research has become more about rare diseases,’ Jim says. These include, ‘breast cancers, [and] inherited forms of heart disease.’

Where did the idea for the project come from?

Jim describes two cohorts in Scotland, ‘the Viking Genes cohort in Edinburgh with 10,000 people from the Northern Isles,’ and another cohort, Generation Scotland, which focuses on mainland Scotland.’

‘There is the Irish DNA Atlas which focuses on the Republic of Ireland, and the UK Biobank, and I thought that we should use these cohorts to figure out where the haemochromatosis gene variants are the most common.’

Why has there not been a project like this before?

‘No one has done a large epidemiological study like this where there is little to no bias...these people in the study don’t have a bias because they were recruited for research that wasn’t to do with haemochromatosis.’

‘It is only in recent years that the cohorts have got the latest genetic sequencing data that allows us to look at variants like those that cause haemochromatosis.’

Why is your research focused on the North of Scotland?

‘I come from Orkney, and my father is from Shetland, so there’s an interest in studying my own people. I’ve always had a slight interest in haemochromatosis,’ Jim says, referring to its moniker, ‘the Celtic Curse.’

‘Island populations are different to more cosmopolitan areas like London and may need slightly different treatment...we started with Long QT syndrome, a sudden death disease. The variant for the disease was 130 times more frequent in Shetland than in London. The breast cancer variant in Orkney was over 100 times more common.’

‘People were sharing their blood and data with us for research, and I thought, what can I do for them? I can return ‘’actionable’’ genetic findings, called actionable because we can do something about them. We have done returns for the initial cohort of 4000 people telling them if they have the C282Y variant...we are one of only 2 cohorts in the UK doing the return of results...I’ve become an advocate for genetic screening during this process.’

What are the aims of the project?

Jim describes two main aims of the project:

‘A map of haemochromatosis variants across the UK and Ireland...looking for hotspots...this evidence will help Haemochromatosis UK, and the NHS to focus screening programs on those who need them the most.’

‘The second part is to return results to the second cohort of 6000 who volunteered...they receive a letter from me telling them whether they have the HFE gene variants that put them at risk of haemochromatosis and encouraging them to reach out to their doctor to have their iron tested.’

What challenges have you faced during the project?

‘It’s been difficult to raise funds, that’s one of the reasons I reached out to Haemochromatosis UK and applied for a Fernau Award (named after HUK's founder Janet Fernau MBE). I had a phone call with HUK CEO Neil McClements, and we agreed on everything about screening.’

How will this help people with, or at risk of developing haemochromatosis?

‘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.’

‘If we can focus screening on the places with the highest frequency of haemochromatosis variants, scarce resources can be directed more accurately to help find more undiagnosed people and identify those at risk.’

‘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.’