The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland 2026 Wilson et al

[Andy]

Abstract​

Hereditary haemochromatosis is caused by pathogenic variants in the homoeostatic iron regulator gene HFE. Outcomes include liver cancer, cirrhosis and arthropathy, but penetrance is incomplete. Here, we use genetic data from >400,000 subjects to determine the genetic risk across 29 regions of the British Isles and Ireland. Northwest Irish and Outer Hebrideans are at the highest risk (1/54 – 1/62 carry the major risk genotype), Mainland Scots are also at increased risk (1/117), declining to 1/212 in Southern England. We also assessed the prevalence of clinically diagnosed haemochromatosis in >63 million people in NHS England and identified 70,365 cases. White Irish individuals have the highest prevalence (3.7x white British). Among white British, prevalence varied 11-fold from 1/1972 in parts of Kent to 1/177 in Liverpool. Discrepancies between genetic risks and prevalences of clinical diagnoses for Birmingham, Cumbria, Northumberland and Durham suggest under-diagnosis in these regions. We show heightened genetic risk of haemochromatosis in people of Northwest Irish and Hebridean ancestry and suggest health-economic modelling of community screening should be targeted to these priority areas.

Open access

 

[Andy]

Victim of 'Celtic Curse' spent years blaming herself for poor health

A woman who believed it was her fault she was always tired and in pain has said it is a relief to learn in her 80s that her life-long health problems are caused by a genetic disease linked to her Hebridean ancestry.

London-born Anne Campbell took early retirement from teaching when she was 44, after doctors were unable to explain why she did not have the energy to work.

A test two years ago revealed she has haemochromatosis - a genetic disorder nicknamed "the Celtic Curse" that she inherited from her Lewis-born father.

"I spent a lot of time blaming myself and I always felt I was letting people down," said Campbell, 83. "It was an amazing relief - I wasn't imaging it and it wasn't my fault."

Article

 

[John Mac]

I was tested twice for haemochromatosis, once by the NHS and once privately at a Spire hospital but both tested negative for the gene variant.
I was feeling unwell and when I had my blood tests done by my GP my iron levels were reading 760 where the upper limit was 300 ( sorry can't remember the units used). I was referred to the local NHS haematology department but as mentioned the test came back negative and with all the other tests carried out they couldn't find a reason for the raised iron levels but left me with the ansewer that it can be a marker for inflammation somewhere in the body. As I was not feeling any better I paid to go private as speaking to them they seemed very confident they could get to the bottom of it but as with the NHS everything was negative and they also suggested a possible inflammation somewhere.
Eventually the reading came down below the upper limit but as this was the start of my ME/CFS illness I wonder if there is a connection.

1/177 in Liverpool

Northwest Irish and Outer Hebrideans are at the highest risk (1/54 – 1/62 carry the major risk genotype)

The reason this intrigues me is that I am from Liverpool and according to Ancestry.com I am 64% Ulster heritage.

 

[Amw66]

You can be a carrier ( have 1 of the genes) - I know of two family members who are carriers and have higher than normal iron levels.
Australia has a high Haemochromatosis level reflecting the exodus of celts over the past 2-300 years- I believe their genetic testing is slightly different. ( I've been told they test more genetic factors than we do. I don't know how accurate that statement is)

 

[Spartacus]

My DNA is about 70% from North West Ireland, though I consider myself to be English. I have often idly wondered whether I might have haemochromatosis, as my ME symptoms are vastly improved for a brief period if I have blood taken. The more blood, the better. However I have never had any yellowish tinge to my skin, so have always felt too foolish to ask my GP.
Is it normal for people with ME to feel better after a blood test?
Is the improvement just down to a surge in Adrenaline?

 

[Kitty]

You can also have both pathogenic variants and not be affected. My mam did, though her sibling was affected.

Quite a substantial percentage of people in Britain and Ireland are carriers—10 or 15 percent is the usual estimate.

I have often idly wondered whether I might have haemochromatosis, as my ME symptoms are vastly improved for a brief period if I have blood taken.

I don't think it's usual for haemochromatosis sufferers to feel better after venesection. My aunt always said she felt a bit weak and weedy, and my cousin needs someone with her for the day because she gets dizzy. I'm sure there are plenty of folk who don't have any ill-effects from it, but there's no obvious reason they'd feel better. The attrition caused by the disease is gradual, and liver damage in particular is known for not tending to show symptoms until it's quite severe.

But anyway, it's a straightforward blood test. The GP's probably done it already, to be honest, as it's one of the standard tests done when people become ill with symptoms like fatigue. However, as iron overload often doesn't manifest until later life (it can take decades for levels to build up), if you were diagnosed with ME/CFS under 30 and are now getting on for middle age, it might be worth repeating if you're concerned.