THERE are some 20,000 undiagnosed cases of the “Celtic Gene” in Ireland.
Formally known as haemochromatosis, or iron overload, it is the most common genetic disorder in the country – yet many people don’t know they have it.
Early diagnosis is “vital” and, if left untreated, it can lead to organ damage or even premature death.
Once diagnosed, treatment is simple, with regular removal of blood similar to donating blood.
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 Ireland are predisposed to developing haemochromatosis.
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, heart, pancreas and joints can be affected.
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 Northern Ireland, and could have been spread through Viking travel routes.
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.
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 sex drive, and low mood.
If you have a history of haemochromatosis in your family, we encourage people to go to their GP and ask for an iron panel test.
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.
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 www.giveblood.ie, 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 families through our helpline, patient information packs and resources, and information events.
We also work closely with the medical community and have recently received much-needed funding from a foundation, The Hospital Saturday Fund, to set up a pilot education and training programme for GP practice nurses who provide venesection treatments for haemochromatosis patients.
PILOT PROGRAMME
The first training pilot programme was delivered in the North-West in March 2025, and we worked with the HSE nurse training and education units to facilitate training for practice nurses across Sligo, Leitrim, Roscommon, Galway and Mayo.
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 menopause.
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 European haemochromatosis patient organisations to educate the public and raise awareness.
And we work with the research and medical community to keep up-to-date with European and international clinical studies that benefit haemochromatosis patients.
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 haemochromatosis.ie or email us on info@haemochromatosis.ie.
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