Haemochromatosis: Thousands in NI Being Offered Testing for a Genetic Disorder
'I'd never heard of this condition until I was diagnosed.'
Thousands of people in Northern Ireland are being offered free genetic testing for a disorder known as the Celtic Curse. This condition, called haemochromatosis, is the most common genetic disorder in the region, primarily affecting those of Irish and Scottish ancestry. It poses a risk of excessive iron absorption, potentially damaging various body parts.
Symptoms vary widely, from chronic fatigue and joint pain to memory issues and skin conditions. If left untreated, it can lead to severe long-term health complications. The BBC News NI previously reported concerns about insufficient testing in Northern Ireland due to cost.
The Department of Health's policy is to screen for genetic haemochromatosis when a patient exhibits symptoms. However, a charity, Haemochromatosis UK, aims to gather more information on undiagnosed cases in specific areas of Northern Ireland. They are offering free genetic screening to up to 23,500 households in Irvinestown, Portadown, Ballymena, and Magherafelt.
Neil Irwin, a Haemochromatosis UK employee, was diagnosed with the condition seven years ago. He emphasizes the importance of early diagnosis for effective treatment. 'In recent years, we've received anecdotal evidence from areas like Mid Ulster where people have contacted us, reporting high rates of haemochromatosis in their regions. However, there's a lack of official data, so we're targeting previously unscreened areas in Northern Ireland to create a more detailed picture of the condition's prevalence.'
Collette McKnight, a mother of three from rural County Down, was diagnosed with haemochromatosis in 2019. She initially attributed her symptoms to being busy with her children. However, heart palpitations led her to realize something was wrong. 'When the tests confirmed haemochromatosis, I had no idea what it was. Everyday brings different challenges; some days it's joint pain, others it's breathing problems, but the severe fatigue is always there, making it very difficult to manage.'
She is now treated with therapeutic blood removal, which helps lower iron levels and alleviate symptoms. The Celtic Curse refers to a gene mutation believed to have originated in Europe's Celtic population. DNA analysis of a Bronze Age farmer's remains on Rathlin Island off County Antrim showed its presence by that period. Earlier remains of a Neolithic woman near Belfast also carried a variant associated with an increased risk of the disorder.
Haemochromatosis UK is organizing a touring photographic exhibition in Northern Ireland as part of its latest screening campaign. The exhibition, 'We are Overloaded', featuring photographs by Pulitzer Prize-winning photojournalist Cathal McNaughton, opens to the public at the Millennium Court in Portadown on January 19. Finbar Polin from Gilford, diagnosed during the pandemic, is featured in the exhibition. 'I'd never heard of the Celtic Curse until I was diagnosed. It's initially scary because it affects you mentally; you don't know where it's going, but being part of the charity and meeting others with the condition has been incredibly helpful. The exhibition is powerful because each picture tells a person's story.'
Regarding screening, the Department of Health follows advice from the UK National Screening Committee (UK NSC). The UK NSC recommends that there is 'limited evidence on whether treatment is more effective in individuals without symptoms compared to those with symptoms.' However, Haemochromatosis UK believes it's crucial to create an accurate picture of the number of people living with the condition. Previous research suggests that as many as one in 10 people in Northern Ireland are at risk of genetic haemochromatosis. The charity has previously funded and offered free self-test kits to thousands of households in Belfast, Carrickfergus, and Londonderry.
A Haemochromatosis UK genetic testing kit typically costs around £130. The latest kits, purchased with donations and funding, are being distributed to households in relevant postcodes. James Hagan, a businessman and founder of Hagan Homes, is one of the donors. 'Someone close to me was recently diagnosed with genetic haemochromatosis, despite showing no symptoms. Their experience highlights why this campaign is vital. Most affected individuals have no warning signs, yet the potential consequences can be severe if the condition goes undetected.'
Haemochromatosis UK plans to inform households in the relevant postcodes about genetic haemochromatosis in the coming weeks and months, offering them a free genetic test and access to counseling to help them understand their results.
