The ‘Celtic curse,’ the blood condition affecting the Irish diaspora

Awareness about haemochromatosis – a genetic condition that also affects people from Scotland, Wales, England, and Brittany – is still relatively low.

Iron plays an essential role in the human body, making a protein found in our red blood cells called haemoglobin. 
This protein allows our bodies to pick up oxygen from our lungs and transport it all around the body. 
For those of Irish heritage, however, a disease known as haemochromatosis, a condition which sees the body store too much iron, can over time lead to a build-up of iron deposits on the organs. 
This can result in health complications later in life, including cirrhosis or liver cancer and heart issues. And yet despite its prevalence, the condition continues to be little known.
Symptoms of haemochromatosis can include fatigue and joint pain. These signs can appear anytime from the age of 30, occasionally earlier, but they are more common in men around the age of 50 and women ten years later due to the menstrual cycle.
For 39-year-old Matt Skinner, fatigue was one of the main precursors to his haemochromatosis diagnosis. 
“I had a lot of brain fog and had difficulty retaining information at work,” he told Euronews Health. 
“I got a new job and there was a new software and I just couldn’t work out how to use it even though it was a similar job. I went to the GP back and forward and they just said I was depressed”.
The condition is mostly hereditary and passed on if both parents have faulty copies of the HFE gene, which regulates the circulating iron uptake in the body. 
If a person only has one faulty copy of the gene, then it is a lot less likely they will develop haemochromatosis, but they are known as a “carrier”. 
Whether or not a person has two mutated copies of the gene from each of their parents and therefore more likely to have haemochromatosis is determined through a blood test.
While haemochromatosis can affect anyone, it has earned itself the sinister nickname the “Celtic Curse”. 
This is because it disproportionately affects people from Ireland, and to a lesser extent those from Scotland, Wales and some other parts of Europe with Celtic ancestry such as Brittany in France. 
Studies by the charity Haemochromatosis UK in 2023 estimated that as many as one in 10 people in Northern Ireland were at risk of genetic hemochromatosis. In Scotland, it was one in 113 and one in 150 in England and Wales.
Aside from higher rates in these populations, the genes were found in human remains as far back as the Neolithic period. 
A 5,200-year-old female farmer from the Neolithic period unearthed in Northern Ireland was found to be a carrier of a variant of the gene.  
In addition, two 4000-year-old males from the Bronze Age, who were also discovered in Northern Ireland, were found to have carried the haemochromatosis mutation of a different variant.
There are no clear explanations yet as to why haemochromatosis disproportionately affects people of Celtic origin. 
While the bad news is that there is no cure for haemochromatosis, the good news is that it’s a condition that can be managed through testing and treatments. 
If it’s caught early, there is less of a chance that the high iron levels will damage any major organs.
In recent years, there have been more health drives – particularly in parts of Scotland and throughout Northern Ireland – to boost people’s awareness of getting tested and ultimately identified as a sufferer earlier. 
One study published by Haemochromatosis UK in 2022 estimated that the total excess cost attributable to the condition across all the mutations of genetic haemochromatosis was over €400 million, including treatments for osteoarthritis and liver disease.
In terms of treatment options, there are two main options: the first is called a venesection or phlebotomy, which reduces the number of red blood cells in your blood and therefore reduces the level of iron. 
It is a very similar procedure to blood donation and involves removing some of your blood at various intervals sometimes weekly or perhaps a couple of times a year. Depending on your iron levels, it can be a lifelong process.
The other option for people with haemochromatosis is chelation therapy, which is a medication usually given intravenously to remove heavy metals from the blood.
When he got tested and found he had the double gene mutation, Skinner started his venesections in January 2021, a treatment he initially received for 11 months. 
This of course came with its setbacks, as can be the case with having blood drawn regularly, but combined with B12 injections, Skinner said it was “lifesaving”.
Edward Holland, 66, who is from the Midlands in England, also experienced similar symptoms and has now had 38 venesections since his diagnosis in April 2023. 
While his joint pain has yet to ease, Holland says he has noticed an improvement since receiving treatment. “My level of fatigue has begun to lift a little bit. I feel as if I do have more energy,” he said.
Speaking to Euronews Health, Holland said he is lucky to have escaped any major organ damage even though he was only diagnosed at 65.
Both men want to raise the profile of this condition. 
“If I’d had this identified earlier, my levels might have been much lower and I could be in maintenance by now. So it’s important to raise awareness,” he said.
“I have never met anyone else in person with haemochromatosis,” Skinner, who comes from Cardiff in Wales, added. 
“I would love to see some advertising of the condition in Wales as I had never heard about it before being diagnosed”.