Approximately 20,000 people in Northern Ireland suffer from genetic haemochromatosis (GH), a condition in which the body absorbs too much iron from the diet, storing the ‘overload’ in vital organs such as the heart, liver and pancreas.
ver time this build-up of iron has a toxic effect and, if left untreated, can result in serious illnesses such as cirrhosis and heart disease.
Genetic haemochromatosis is the most common genetic disorder in the western world but its unusually high prevalence in Ireland has earned it the moniker the ‘Celtic Curse.’
In fact, in 2015 geneticists from Trinity College in Dublin with archaeologists from Queen’s University in Belfast, discovered the mutation in a prehistoric female — known as the Ballynahatty Woman — confirming that GH was present here during the Stone Age.
Fast-forward 5,000 years, and a revolution in genetic research has unravelled many of the mysteries of the disorder. But despite the progress, shockingly fewer than 5% of sufferers are even aware they have it.
Alison Houston (48) from Bangor spent almost two decades searching for a diagnosis.
She explain how her non-specific symptoms, including fatigue and joint pain, allowed the Celtic Curse to fall below the medical radar.
“Looking back, the problems began around 18 years ago,” she says. “With two boys aged two and five, life was hectic. Like all mums, I was always on the go, running around looking after the children while trying to hold down a job in customer service. No wonder I was tired and rundown. At first I tried to ignore the exhaustion and just get on with things but it wasn’t easy.”
As the years passed Alison’s health was getting worse. As well as fatigue, she was struggling with a whole set of new problems.
“I could barely keep my eyes open,” she recalls. “It was an effort just to get through the day.
“I’d started feeling sick all the time, was having pains in my stomach as well as my joints and had developed an unusual sensitivity to cold.
“In the end I simply couldn’t cope so I made an appointment and went to see my GP.”
That visit was to launch Alison on a medical merry-go-round of hospital visits, scans and umpteen tests.
“My symptoms were so vague they could have been caused by any number of things,” she says.
“I think it became a process of elimination, beginning with blood tests.”
There are two key test to detect haemochromatosis: transferrin saturation measures the levels of iron in the blood while serum ferritin reveals the amount of iron in the body.
If levels are outside the normal parameters, patients are referred for genetic testing.
The result can take up to four weeks. These tests are not always offered as part of routine blood screening and, like Alison, patients can be misdiagnosed.
“Over the years I’ve been tested for many conditions including thyroid problems, diabetes, menopause etc,” she says.
“I’ve also had an endoscopy to rule out anything sinister causing the nausea. On a few occasions I was even told my problems were caused by anxiety and depression. In reality, it was the lack of a diagnosis that was making me anxious.
“Eventually, a few hormone results combined with a CAT scan suggested I was suffering from hypopituitarism, a condition affecting the pituitary gland at the base of the brain. I was given a course of steroids, which only added to my problems by making me gain weight.”
By 2020 Alison was getting worse and, desperate for help, she returned to her GP. On this occasion she saw a new doctor.
“I didn’t know what to do. I was permanently at the surgery and was worried they’d put me down as a hypochondriac.
“But my doctor was very understanding and assured me we’d get an answer.
“She ordered another set of blood tests, but this time included a few specific ones to check my ferritin levels.”
When her result came back, Alison and her doctor were shocked.
“My serum ferritin levels were through the roof. I still didn’t really understand what was wrong but my GP referred me to the endocrine clinic at the Ulster Hospital, where I had another test to confirm the diagnosis and the staff went to great lengths to explain what was happening. It was a lot to take in.”
Treatment focuses on reducing the amount of iron in the body.
Interestingly, the technique is as ancient as the condition. In 21st century medicine the practice of removing blood is known as therapeutic phlebotomy, or venesection.
But in antiquity, doctors used bloodletting as a panacea for everything from epilepsy to gout. They even had a special tool called a scarificator.
For Alison, the cure may not have been as bad as the disease, but with a needle phobia, it was far from easy.
“I’ve always been afraid of needles. So when I learned that I’d have to have a pint (500ml) of blood withdrawn every month, it was definitely unnerving.
“As it turned out, once a month wasn’t enough and I had to attend every fortnight instead. To be fair, the staff are great and very reassuring, so it wasn’t as awful as I’d imagined.”
There are no formal dietary rules but, considering that people with GH absorb four times the normal intake of iron (1mg), some foods are more beneficial than others.
Animal proteins aren’t completely off the menu. With a few tweaks, like choosing chicken and fish, both lower in iron than red meats, everyone can enjoy a traditional roast dinner.
“My diet has changed completely,” Alison says. “I tend to avoid foods that are known to be rich in iron. I eat a lot of fruit and vegetables and try to cook everything from scratch.
“On the whole, it’s a much healthier diet that both my partner and sons can also enjoy. There are some things, like iron supplements or vitamin pills containing iron that must be avoided. But, if I’m not sure about something, the doctors and staff at the clinic are always there to offer advice.
“It’s still new to me and I’m learning as I go along. Social media, especially the GH support group on Facebook, is very helpful.”
As a genetic disorder, does she worry her sons may have inherited the same gene?
“Yes, of course. I think any mum would be worried. But the diagnosis is still so unfamiliar and we’re all trying to get our heads around it.
“After two decades searching for an answer, I was diagnosed and suddenly everything started happening so quickly. I found myself plunged into this strange new world of hospital clinics, needles and blood. It’s been hard to take it all in.
“But I’ve spoken to my sons, and as life is settling into some form of normality, no doubt they too will be tested.”
How is she feeling now?
“My levels still aren’t back to normal but they’re much better and, more importantly, still falling. I’m usually tired after the procedure but it passes relatively quickly and I’m relieved that many of the vague, unexplained symptoms have gone. I’m feeling a lot better.
“I’ve also a great support system, especially from my partner, who has been amazing.
“He’s always there for me and, to be honest, I don’t know how I’d have coped without him.
“My sons Dean, who’s 23, and his brother, 20-year-old Jake, always put a smile on my face.
“I may have the Celtic Curse but I’m an incredibly lucky woman.”
For further information visit www.haemochromatosis.org.uk
