by People whose loved ones have a blood disorder are often not screened in Northern Ireland due to cost concerns, a charity said.
Haemochromatosis – also known as the Celtic Curse – is the most common genetic condition in Northern Ireland.
The guidelines state that all close relatives — siblings, parents, and children — should be screened when a person is diagnosed.
The Department of Health said people would be screened for hemochromatosis if it was needed.
This is usually determined by a series of blood tests to detect high levels of iron.
But Haemochromatosis UK says people are struggling to get the genetic blood test.
It normally costs around £200, but the charity has funded 30,000 self-test kits for use by people in Belfast.
The disorder means a person absorbs too much iron and it can damage other parts of their body.
“I had to push it”
Catherine McComb counts herself among the lucky ones, having been diagnosed with hemochromatosis before any damage was done.
She acquired her “hard-fought diagnosis” more than three years ago.
Since then, the 40-year-old has been waiting “in limbo” for an initial consultation to discuss her treatment plan.
Treatment includes regular blood donations to lower iron levels in the body.
Catherine described her first symptoms as “general under the weather”.
She repeatedly contacted her GP before a local doctor found abnormal levels of iron in her blood.
“It was like night and day how much I had changed, and I knew it wasn’t just because I was getting older,” she said.
“I had the confidence to push for an understanding.”
What is the Celtic curse?
The gene mutation that causes most cases of hereditary hemochromatosis is believed to have originated in the Celtic population of Europe.
It is most commonly found in people of Irish, Scottish, Welsh, or Cornish descent.
DNA analysis of the genomes of a Bronze Age farmer on Rathlin Island in County Antrim showed it was already established by that time.
Even earlier, the remains of a Neolithic woman found at Ballynahatty, near Belfast, show that she carried another variant, also associated with an increased risk of the condition.
Read more: DNA sheds light on Irish origins
Three of the Sheridan siblings from Belfast have the disease, with Bill, 66, recently diagnosed.
“It’s interesting because we’re all at different stages,” he said.
One of his 69-year-old sisters believed she suffered from arthritis and fibromyalgia for 15 years before finally understanding the condition.
“Her doctor told her she may have been misdiagnosed,” Bill said.
“If people get tested early, they could donate blood and benefit the rest of society and not burden healthcare like my sister was.”
Bill and his siblings were all told they were “red flag referrals” to see a specialist, which could take two to three years later, so they opted to pay for a private consultant.
“I don’t know how many people are waiting … when it’s easily treatable at no cost to society,” he said.
“Dad insisted we be tested”
Sean O’Hare, 52, from Forkhill, County Armagh, lost his father Tony in 2018 to heart failure caused by hemochromatosis, which had been diagnosed two years earlier.
“He was showing signs of fatigue and joint pain, but we would have considered him to be very healthy for his age and active throughout his life,” Sean said.
“He was a passionate gardener and golfer who wouldn’t have been sitting around.
“My father insisted we get tested – he was a pharmacist himself.”
Sean said they now know of two carriers in the family.
“You don’t actually test for hemochromatosis, you have to ask — that has to change,” he said.
Since the death of Sean’s father, the family has raised money this month to fund genetic testing in Newry.
“The most important thing is to create awareness – if it saves someone’s life, everything will be worth it.”
How can I get tested?
First degree tests – siblings, parents and children – were recommended by the British Society of Hematology in 2018.
A recent campaign funded by Haemochromatosis UK has resulted in thousands of Belfast homes being offered free self-test kits.
The resulting samples are sent to an NHS accredited laboratory, which provides results within two weeks.
Similar schemes have been piloted in Carrickfergus and Londonderry over the past two years.
The charity’s Neil McClements said it found that one in ten people had the condition.
“They are all being cared for now, having previously either not known their status or been turned down for a test by their GP when a close relative was diagnosed,” he said.
“British guidance is that all first-degree relatives should be screened when someone is diagnosed – this is mostly not done in Northern Ireland due to cost concerns.”
“As far as I know, we got it from the Vikings,” my nurse said when she drew my blood last week.
I am being tested for hemochromatosis after several family members have been diagnosed.
We discovered it in our family in 2017 – at the time I had never heard of the disorder dubbed the “Celtic Curse”.
For centuries the people of Ireland lived with it without knowing they had it – has that harmed them?
My feeling is that it’s better to know because then you can do something about it.
More cases are now being diagnosed as people like me ask to be tested.
Those affected in my family have changed their diet.
Some breakfast cereals are avoided, as are other iron-rich foods and certain alcoholic beverages.
Regular vein dissections — collecting blood for diagnosis — mean her iron levels are falling.
At family gatherings, the discussion often revolves around “hemotics” and comparing iron levels. I’m waiting for my result.
