Haemochromatosis: Thousands in NI Offered Testing for a Genetic Condition with Celtic Origins
Many residents in Northern Ireland are being offered free genetic testing for haemochromatosis, a condition often referred to as the Celtic Curse. This disorder is a common genetic issue in Northern Ireland, particularly among people of Irish and Scottish ancestry.
Haemochromatosis predisposes individuals to absorbing too much iron, which can lead to damage in various body parts. Symptoms can range from chronic fatigue, joint pain, memory issues, abdominal pain, and skin conditions. If left untreated, it can result in severe long-term health complications.
The BBC previously reported on concerns regarding insufficient testing in Northern Ireland due to cost constraints. The Department of Health's policy is to screen for genetic haemochromatosis when symptoms appear.
Haemochromatosis UK, a charity, aims to gather more data on undiagnosed cases in specific Northern Irish areas. They will provide free genetic screening to up to 23,500 households in Irvinestown, Portadown, Ballymena, and Magherafelt.
Neil Irwin, a Haemochromatosis UK employee, was diagnosed seven years ago. He emphasizes the importance of early diagnosis for accessing effective treatments. Anecdotal evidence from areas like Mid Ulster suggests high haemochromatosis rates, but official data is lacking.
Collette McKnight, a mother of three from rural County Down, was diagnosed in 2019. She initially attributed her symptoms to being busy with children, but later developed heart palpitations, leading to a diagnosis. She now undergoes therapeutic blood removal to manage her iron levels and 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 on Rathlin Island and a Neolithic woman near Belfast revealed the mutation's presence in those periods.
Haemochromatosis UK is organizing a touring photographic exhibition, 'We are Overloaded,' featuring photos by Cathal McNaughton, a Pulitzer Prize-winning photojournalist. The exhibition will be open to the public at the Millennium Court in Portadown on January 19th.
Finbar Polin, from Gilford, is featured in the exhibition and was diagnosed during the pandemic. He shares his story, emphasizing the mental impact of the diagnosis and the support gained from the charity and fellow patients.
Regarding screening, the Department of Health follows UK National Screening Committee (UK NSC) advice. The UK NSC notes limited evidence on the effectiveness of treatment for asymptomatic individuals compared to those with symptoms. However, Haemochromatosis UK stresses the importance of accurate data on the condition's prevalence.
Previous research suggests that up to one in 10 people in Northern Ireland may be at risk of genetic haemochromatosis. The charity has previously funded free self-test kits for thousands of households in Belfast, Carrickfergus, and Londonderry.
Haemochromatosis UK's genetic testing kits typically cost around £130, but they were recently purchased with donations and funding. Businessman James Hagan, whose close relative was recently diagnosed, highlights the importance of early detection, as most affected individuals show no warning signs.
