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‘Celtic Gene' silently stalking Ireland can cause premature death & THOUSANDS are undiagnosed – 6 symptoms to check for
‘Celtic Gene' silently stalking Ireland can cause premature death & THOUSANDS are undiagnosed – 6 symptoms to check for

The Irish Sun

time3 days ago

  • Health
  • The Irish Sun

‘Celtic Gene' silently stalking Ireland can cause premature death & THOUSANDS are undiagnosed – 6 symptoms to check for

THERE are some 20,000 undiagnosed cases of the 'Celtic Gene' in Ireland. Formally known as Advertisement 4 Haemochromatosis is the most common genetic disorder in the country Credit: Getty Images - Getty 4 David Beggy is raising awareness of the disorder that may lead to organ damage Credit: Barry Cronin 4 It is ­treated with regular removal of blood Credit: Getty Images - Getty Early diagnosis is 'vital' and, if left untreated, it can lead to Once diagnosed, ­treatment is simple, with regular removal of blood similar to donating blood. Advertisement Here, voluntary chairperson of Irish Haemochromatosis Association, David Beggy, talks about the disorder, which was discovered in Ireland thousands of years ago. He describes the symptoms to watch out for and explains how you can get checked out for it. ONE in five of us is a carrier and one in 83 people in Our charity, the Irish Haemochromatosis Association, estimates that there are at least 20,000 undiagnosed cases of haemochromatosis in Ireland, so our mission is to continue to raise awareness of the disorder to get as many people as possible diagnosed and treated. If haemochromatosis is not diagnosed and treated early, iron overload can lead to organ damage where the liver, Advertisement Women and men can equally be at risk of haemochromatosis, but women might present with symptoms later, especially after menopause. The gene implicated in haemochromatosis was identified as late as 1996. But the genetic mutation was found in the remains of a Neolithic woman about 5,000 years ago in Ballynahatty in Urgent health alert as GP shares ways to combat illness with simple everyday task Ireland is a small island nation, so the gene was passed down from generation to generation within families. LOOK OUT FOR SYMPTOMS We would always urge people to look out for the early and most common symptoms of haemochromatosis, which can sometimes be non-specific and difficult to diagnose. Advertisement They include, chronic fatigue, abdominal pain (non-specific), irregular heartbeat, joint pain - especially in the knuckle and first joint of the first and second fingers - loss of If you have a history of haemochromatosis in your family, we encourage people to go to their The GP usually recommends a genetic test to rule in or rule out a diagnosis of haemochromatosis if ferritin and/or transferrin saturation levels are raised. SIMPLE TREATMENT Treatment for haemochromatosis is the removal of a unit of blood (similar to donating at the blood bank, only more frequent), sometimes every two weeks or until iron levels return to normal. Once normal iron levels are re-established, they can be maintained by blood removal two to five times per year, depending on the patient and also depending on how high ferritin levels were when first diagnosed. Advertisement This phase is known as a maintenance phase. We also work with the Irish Blood Transfusion Service to promote blood donations from haemochromatosis patients where they are eligible. EARLY DIAGNOSIS IS VITAL For more information on how to donate blood and check if you're eligible, patients can visit where there is an online questionnaire for people to check if they meet the criteria — or you can call to make an appointment. Early diagnosis of haemochromatosis is vital. At the Irish Haemochromatosis Association, we provide support for patients and their Advertisement We also work closely with the medical community and have recently received much-needed funding from a foundation, The PILOT PROGRAMME The first training pilot programme was delivered in the North-West in March 2025, and we worked with the We hope to work with the HSE to roll this out nationally. Early symptoms of haemochromatosis HAEMOCHROMATOSIS symptoms usually start between age 30 and 60, but they can happen earlier, according to the HSE Symptoms usually develop earlier in men than in women. Symptoms may not start in women until after Sometimes there are no symptoms and the condition is only found during a routine blood test. The HSE list some of the symptoms of haemochromatosis as: Feeling very tired all the time (fatigue) Weight loss Weakness Joint pain Not being able to get or maintain an erection (erectile dysfunction) Irregular periods or absent periods We also work closely with our And we work with the research and medical community to keep up-to-date with European and international clinical studies that benefit haemochromatosis patients. Advertisement RAISING AWARENESS World Haemochromatosis Awareness Week, which took place last week, was an important event for us. It gives us the opportunity on a national scale to highlight what haemochromatosis is, how to recognise the symptoms of the disorder and how to get checked and tested for haemochromatosis. Awareness Week has gone from strength to strength in the past few years and, each year, we reach more people, especially through our charity social media pages. For more info on what we do, see or email us on info@ 4 There are at least 20,000 undiagnosed cases of haemochromatosis in Ireland Credit: Getty Images - Getty Advertisement

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