Westminster debate on Haemochromatosis screening 25/06/2025

The situation is even more stark in Northern Ireland, with 1/123 of the Ulster Scots carrying two haemochromatosis variants, while 1/54 in the Catholic community do: the highest concentration in the British Isles. The Irish diaspora is present in constituencies in Scotland, London and across the UK, many perhaps suffering from undetected iron overload and its consequences.

Prof Wilson has recommended screening for haemochromatosis but Torcuil Crichton wants to go further – he thinks everyone in the Western Isles should be screened for both haemochromatosis and DNA tests across the board to see which other inherited conditions they might have. This would save money for the NHS and be transformative for the constituency, putting them on the front foot for preventative healthcare. Given the cost per head of screening, it is logical that starting in the places with the highest rates of the variants would be most cost-effective.

Initially the bill should be paid from the community payback from the large-scale windfarm developments planned for the islands. This would properly harness the wealth of the wind to transform the health chances of people and their children. Similar projects proposed for Orkney and Shetland could be paid for by funding from wind farms there. The learning from these pilot schemes could then be used to plan rollout across the rest of Scotland and the UK.

I urge UK ministers and their counterparts in Holyrood to seriously consider a pilot screening study in the Western Isles as there is a clearly identifiable increased risk of haemochromatosis.

Ashley Dalton, the Parliamentary Under-Secretary of State for Health and Social Care responded for the government:

Ms Dalton thanked Mr Crichton for securing the debate and sharing his personal connection to haemochromatosis. She outlined the debilitating consequences of the condition and estimates of the rates of people affected in different parts of the UK.

She explained that all four nations of the UK are advised by the UK National Screening Committee on all aspects of population and targeted screening. The NSC assesses the evidence for screening programmes against a set of internationally recognised criteria covering the condition, the test, the treatment options, the effectiveness, the ethics and acceptability of the screening programme. A screening programme is only recommended when the offer to screen provides more good than harm.

“The UK National Screening Committee reviewed the case for screening for genetic haemochromatosis in adults in 2021. After consideration, it recommended on balance against a national screening programme at that time. That was because although a faulty hereditary hemochromatosis protein gene—the HFE gene—is known to cause iron to build up, that does not happen to every person with the faulty gene. Screening could therefore result in people being told that they have a condition that would not go on to impact their lives, which may cause undue worry. Screening would identify people who may never experience symptoms.”

Prof Jim Flett Wilson, Professor of Human Genetics, University of Edinburgh, Chief Investigator, Viking Genes, responds:

The Under-Secretary’s concern that a screening programme may cause undue worry to some individuals is misplaced and perhaps arises from a misunderstanding. Every type of screening programme causes some people to worry.  Unfortunately, every screening programme, such as breast or bowel cancer screening, will also always give rise to a few false positives: people who are told they have an abnormal mammogram or stool sample, but who later turn out not to have the disease. This can be extremely stressful for the individual involved. However, this concern doesn’t prevent the NHS from operating population screening, as the advantage of being able to identify and treat the many individuals who are unaware of their heightened risk outweighs the concern of the unfortunate few who are misdiagnosed.

Not everyone with a lump or other abnormality on their mammogram has breast cancer, but the heightened risk this may indicate is more important to investigate than the undue worry caused for those fortunate to find out following further investigation that the lump is nothing to worry about.

Similarly, not all people with a BRCA1/2 gene variant being screened as part of the NHS England Jewish BRCA community screening programme go on to develop breast or ovarian cancer but all of these people with a BRCA variant are at a higher risk of doing so than the general population. Knowing this allows them to access better NHS surveillance to monitor for any early development of disease.

In the case of haemochromatosis, it would be possible today to screen and identify all those individuals with two copies of the faulty HFE gene who are at higher risk of developing iron overload and the conditions it can lead to. It’s true that some individuals with two faulty HFE gene copies do not appear to develop symptoms, however this remains poorly understood. For this reason, all these people should be monitored for signs of occurrence of the disease.

Moreover, we do not propose telling people with two faulty copies of HFE that they “have the condition”, rather that they are at increased risk of the condition and that on average around 1 in 2 of them will go on to develop symptoms. Just as is the case with BRCA2, enhanced surveillance is required through regular checking of blood iron levels.

Ashley Dalton, Under-Secretary of State for Health and Social Care:

“A screening programme would be most relevant for this condition if pre-symptomatic treatment showed significant improvements in an individual’s prognosis.  However, there is limited evidence on whether treatment is more effective in individuals without symptoms compared with those who have symptoms.”

Prof Jim Flett Wilson, Professor of Human Genetics, University of Edinburgh, Chief Investigator, Viking Genes, responds:

A screening programme is always a form of pre-emptive intervention – to identify and continue to monitor those at higher risk or to intervene medically or surgically early in disease progression, in those of greater immediate need. The level of urgency leads to different pathways of care for the individual.

Those with two faulty copies of the haemochromatosis gene would access a different pathway of care, with those currently asymptomatic undergoing further monitoring, e.g., having their blood iron levels checked every couple of years, whilst being encouraged to make lifestyle changes, such as moderation of alcohol intake, that may help to stave off the development of symptoms. 

If, at some future point, they start to show increasing iron levels or some other symptoms, they can begin treatment earlier (than if undiagnosed) with the simple venesection known to reduce blood iron. This then, in turn, reduces the chances of organ damage.

Again. this is not very different from the situation with BRCA2, where a carrier who is cancer-free will be offered earlier, more regular and more accurate mammograms than women who are not carriers. This is a different pathway of care.

Ashley Dalton, Under-Secretary of State for Health and Social Care:

“However, the UK National Screening Committee keeps its decisions under review. It welcomes any new published peer-reviewed evidence that suggests the case for a new or modified screening programme via its annual call. Any individual or organisation can submit a topic to the UK NSC to consider a new screening programme or modification to an existing programme.”

Prof Jim Flett Wilson, Professor of Human Genetics, University of Edinburgh, Chief Investigator, Viking Genes, responds:

Together with colleagues in the Usher Institute at the University of Edinburgh, we are going to put forward a case to the next call. Our paper with accurate frequencies of the genetic variants across 29 regions of the British Isles will provide further peer-reviewed evidence for the committee to consider.

Ashley Dalton, Under-Secretary of State for Health and Social Care:

“For patients in England who show unexplained iron overload suggestive of hereditary haemochromatosis, genetic testing is available at one of the seven genomic laboratories. Any healthcare professional who suspects their patient may have haemochromatosis can refer their patient for testing via their local NHS clinical genomic service.”

“Let this be the beginning of a conversation about how we can best support people with haemochromatosis. The condition affects many in our constituencies, and this has been an important opportunity to highlight how we must support their diagnosis and treatment in the future.”

Prof Jim Flett Wilson, Professor of Human Genetics, University of Edinburgh, Chief Investigator, Viking Genes, responds:

Whilst this is good news for some lucky patients in England, who have a GP who correctly identifies iron overload, unfortunately this is rare, with many patients suffering decades of misdiagnosis as early symptoms of haemochromatosis are common to many illnesses. It is precisely this difficulty in identifying haemochromatosis at an early stage, together with the fact that many of the people with two faulty haemochromatosis genes are unaware of their increased risk, that further justifies the need for targeted screening in communities that are known to have higher frequencies of individuals with faulty HFE genes. The Western Isles and Northern Ireland have the highest frequencies, around four times that seen in southern England and thus community screening would greatly support diagnosis in these regions.

The health minister has stressed the need to modernise the NHS, to move to preventative medicine and to keep people fit and active and contributing to our economic growth. Focussed regionally targeted screening programmes for debilitating conditions such as haemochromatosis will help do exactly that.