Haemochromatosis Screening

Motion made, and Question proposed, That this House do now adjourn.—(Kate Dearden.)

19:03:00

I ought to begin with an explanation of what is a very long word. Put simply, haemochromatosis is too much iron in the blood—haemo, blood; chroma, iron; and tosis, too much of it. To save time and the good offices of Hansard, I will refer to it occasionally as HCT in this debate. It is an inherited genetic condition, a disorder often known as the Celtic curse, because it is particularly prevalent in Celtic bloodlines and is common in Wales, Scotland and Northern Ireland. I think it is more probably a Viking phenomenon—an old genetic response to times of famine that we carry into modern times. Untreated haemochromatosis can lead to several common conditions that we might describe as Scottish diseases of ill health: cirrhosis of the liver, heart disease, arthritis and so on. Once spotted, HCT is easily treated by venesection—another long word—which simply means bloodletting. About 450 ml of blood is taken off the patient at each session to chase down the iron levels in the body to normal levels. Generally haemochromatosis is asymptomatic, and without a test to measure for ferritin levels, it can be easily missed. I have a bit of knowledge of the bloodletting side of the business, because for the past 17 years, I have been attending the Knutsford ward at the Royal London hospital on a regular basis for venesection. I am grateful to the staff there for the incredible treatment they have given me, including consultants such as Richard Marley. I am also grateful to my younger brother, Donald, who was tested and found he carried the gene in 2008.

I thank the hon. Gentleman—I am not going to pronounce his constituency, as I would get that all wrong with my Ulster-Scots—for bringing this debate forward. He and I spoke last night about HCT and its prevalence. He is right that it is called the Celtic curse. Some might say that maybe I am a curse on some people. I am sure nobody would come to that conclusion. However, one in 10 people have this disorder, which features strongly among the Northern Irish, the Scots, the Welsh and even Cornish communities —all the Gaelic cousins and people. However, even with that prevalence, screening does not naturally take place and quality of life is impacted for years before someone even goes to their GP. Does the hon. Gentleman not agree that it is unnecessary to live with something that can be easily treated?

The hon. Gentleman’s interventions are always a blessing, never a curse. I have some information of particular interest to his part of the world later in my speech. I have declared my interest, as I have haemochromatosis, but it is not just my experience, but that of my constituents and the make-up of my constituency in Na h-Eileanan an Iar that have spurred me to secure this debate. It is not all about me. A groundbreaking DNA study headed by Professor Jim Flett Wilson of Edinburgh University discovered that the Western Isles are a hotspot for haemochromatosis, this genetic mutation that the body at some stage adopted for survival. People are at risk of developing the condition if both their parents have the faulty gene and they inherit one copy from each of them. They will not get haemochromatosis if only one of their parents carries the gene and they only get one copy, but there is a chance they could pass the gene on to their children. If people inherit two copies—that is, both their parents are carriers—they will not necessarily get haemochromatosis. About half of people with two copies of the faulty gene develop the condition, and it is not known exactly why. What is known is that the Viking genes DNA study by Professor Jim Flett Wilson took DNA samples from islanders in Orkney, Shetland and the Western Isles, and it threw up some amazing discoveries. People wanted to find out if they had Viking heritage, and many sent in swab samples and filled in the questionnaires in sufficient numbers for the scientists to crunch the numbers. I did not do that myself. Feeling Viking by name and by nature, I did not think it necessary. Analysis of the data, and cross-examination with other gene studies, showed that in Orkney and Shetland, participants in the study had rare and unique cancer genes, which led to them being alerted to their condition. The study saved lives and is credited with doing so. The good news for the Western Isles—for Na h-Eileanan an Iar—is that no rare cancer genes were found. While the results are still being finalised, it is clear that the Western Isles are a hotspot for haemochromatosis and inherited high cholesterol, which can lead to heart disease. According to Professor Flett Wilson, the numbers in the Western Isles are sufficiently high to justify population-wide screening. For instance, one in 212 people in the south and east of England carry two copies of the faulty gene, as opposed to one in 62 in the Outer Hebrides.

I am a member of the all-party parliamentary group on genetic haemochromatosis, and my constituent Lorraine asked me to attend the debate. She suffers from the disease, and has found a way to manage it by donating blood regularly. She is pleased that genetic testing enabled her to know about her condition so she did not suffer severe organ damage, which can affect many people with the disease. Does my hon. Friend agree that genetic testing for those who are more likely to be diagnosed is essential if we are to help people lead healthy lives without the need for medical intervention?

I do indeed agree. Haemochromatosis, although widespread, was not widely known about until very recently, but genetic testing, as well as simple ferritin level tests, will inform many more people. Early intervention is vital to preventing people from developing crippling illnesses which might otherwise be wrongly ascribed to a condition other than haemochromatosis. It is not just people such as my hon. Friend’s constituent who are affected. In Northern Ireland—or the north of Ireland, depending on how we view our maps—the situation is even more stark than it is in the Western Isles. Among the population of “Ulster Scots”, if I can call them that, there is a one in 123 occurrence of two faulty copies of the gene, which is similar to the incidence in mainland Scotland. The Catholic community in the north-west of Ireland have the highest concentration in the British Isles: one in 54 carry two faulty copies. On the basis of Professor Flett Wilson’s work, we can predict that one in 94 men in the Western Isles will develop HCT, and one in 80 men of north-west Irish ancestry—and the Irish diaspora is present in constituencies in Scotland, in London and across the United Kingdom—may have the condition, perhaps undetected and perhaps mis-diagnosed, and are possibly suffering from the long list of illnesses associated with an iron overload. In Orkney and Shetland, analysis of the Viking genes study uncovered rare cancers and lives were saved. In my constituency, people who were found to have the HCT gene have been alerted by letter. The figures for the Western Isles do not include people who did not take part in the study, but they constitute a timely warning about the advisability of screening, a procedure that is not expensive. In the Hebrides, it looks as though we should act on the spike in iron overload. Professor Flett Wilson has recommended islands-wide screening for this common blood condition, but I want to go further: I think that everyone in the Western Isles, or Na h-Eileanan an Iar, should be screened for too much iron in their blood, but I think they should also be offered DNA tests across the board to show what other inherited conditions they might have.

Will the hon. Gentleman give way?

I will.

Briefly, Mr Shannon.

I will be brief, Mr Deputy Speaker. I am descended from the Stewarts of the lowlands of Scotland, and I am probably the hon. Gentleman’s Gaelic cousin. This screening needs to be carried out in Northern Ireland as well as Scotland.

I do not disagree with that. Screening would be revolutionary. It would save money for the NHS in the short term and the long term, and, more important, it would save lives and put us two decades ahead of the rest of the world in preventive medicine. It would be transformative for my constituency. It would be radical, but only as radical as plans to offer every baby in the UK whole genome sequencing within a decade, a plan backed by the Health Secretary. Genomics, like these tests, would put us on the front foot in preventive medicine, as the Minister well knows. Of course it would cost money—£650 million is earmarked for the boost to genomics by the Department of Health and Social Care—but a smaller and more defined pilot scheme to lead the way in preventive medicine is to hand with the samples of high levels of HCT in the Western Isles. Given the given the cost per head of screening, it is logical that starting in the places with the highest rate of faulty genes would be the most cost-effective option. Initially at least, the Bill ought not to go to the national health service. The bill for gene testing in the Western Isles should be part of the community payback for the large-scale wind farm developments that are planned for the islands. There are already negotiations for community benefits, community funds and community shares in the many planned wind farm developments in rural Scotland. The renewables revolution is about saving the planet, but right now the consumer offer is simply to reduce bills. By properly harnessing the wealth of wind, we can not only make communities better off but transform the life chances and health chances of people and their children. The Viking genes results are not limited to haemochromatosis; they also showed high levels of hypercholesterolaemia in the Western Isles. That is simply inherited high cholesterol —a gene fault—that leaves many islanders, and many of my constituents, with high cholesterol and many with heart conditions, which again could be avoided with predictive medicine and early lifestyle and diet changes.

My hon. Friend makes an excellent point about the need to test in the Western Isles, and his solution of using the community payback from wind farms is an excellent idea. Would he want to go further thereafter and test more widely? My brother has haemochromatosis, and it was discovered completely by accident. The rest of the family were then tested, and one or two cousins were found to have it, although I fortunately do not. It is much more prevalent than any of us ever imagined, and I had never heard of it until my own brother was diagnosed.

My hon. Friend anticipates much of the remainder of my argument. As I said, the research and DNA testing in the islands could and should be paid for by community funds from large-scale renewable projects, just as similar screening projects proposed for Orkney and Shetland could be paid for by funding from wind farms there. From those discrete samples, much learning could be had, and then sampling and testing could be rolled out across not just the rest of Scotland but the rest of the UK. Luckily for me, my siblings and I were spotted early but, as I said, if left untreated and undiagnosed this gene can lead to serious arthritic symptoms, liver cancer and heart disease, the consequences of which are often attributed to other conditions and lifestyle factors but could have been easily prevented by testing. Given the resources, we could test for a wide range of conditions and help this generation and future generations of islanders to live healthy lives. As my hon. Friend the Member for Glasgow West (Patricia Ferguson) said, if it works for a small, discrete population—there are only 21,000 adults in the island chain—the experience and lessons learned could be rolled out across the UK. I know, as we all know, that health services in Scotland do not fall within the ambit of the Minister, but the future of healthcare is in all our hands, and I urge UK Ministers and their counterparts in Holyrood to seriously consider a pilot screening study in the Western Isles. There is a clearly identifiable risk from haemochromatosis, and we should use the lessons from that screening to roll out haemochromatosis screening across the rest of the UK.

19:18:00

I thank my hon. Friend the Member for Na h-Eileanan an Iar (Torcuil Crichton) for securing this debate and for sharing his personal connection as someone who has haemochromatosis. In honour of World Haemochromatosis Week earlier this month, from 1 to 7 June, I pay tribute to the important work that my hon. Friend and our colleagues on the all-party parliamentary group are doing to raise awareness of genetic haemochromatosis. As we have heard, genetic haemochromatosis can have debilitating consequences, including arthritis, joint pain, diabetes, fatigue, psychological or cognitive difficulties, skin conditions, menstrual problems, impotence, breathing and heart problems, abdominal pain, liver problems and hair loss. This genetic condition, which allows iron levels to build up in the body, particularly affects people of white northern European backgrounds. It is estimated that as many as one in 150 people in England and Wales, one in 113 people in Scotland and one in 10 people in Northern Ireland are affected. Health is a devolved matter, and I am delighted to see Members from the devolved nations represented in this debate. I note the interventions from the hon. Member for Strangford (Jim Shannon), and from my hon. Friend the Member for Glasgow West (Patricia Ferguson), who is the Chair of the Scottish Affairs Committee. All four nations in the UK are advised on screening matters by the same independent scientific advisory committee. The UK National Screening Committee is an independent scientific advisory committee that advises Ministers and the NHS in all four countries on all aspects of population and targeted screening, and supports implementation. Using research evidence, pilot programmes, economic evaluation, expert stakeholders and consultation, the UK NSC assesses the evidence for national screening programmes against a set of internationally recognised criteria. These cover the condition, the test, the treatment options, the effectiveness, the ethics and the acceptability of the screening programme. It is only where the offer to screen provides more good than harm that a screening programme is recommended. 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. 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. Currently, there is no evidence that a screening programme is the best way of helping people with the condition. 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. Haemochromatosis is one of the most common genetic diseases, and genetic testing is available. 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. As we have heard, the main way to treat the condition is venesection, which is a procedure to remove some of an individual’s blood. This may need to happen every week at first, but only two to four times a year once the condition is stable. For those who cannot have blood removed, chelation therapy is an option. This medicine reduces the amount of iron in a patient’s body. I know that the NHS Blood and Transplant service works with many patients who have genetic haemochromatosis. While some genetic haemochromatosis sufferers will not be well enough, many of these individuals are well enough, and like Lorraine, the constituent of my hon. Friend the Member for North Warwickshire and Bedworth (Rachel Taylor), offer to give blood as an alternative to venesection. Turning a life-altering condition into a lifesaving opportunity is to be commended. I take this opportunity to thank each and every patient who is able to do so and has opted for that route. To conclude, I once again thank my hon. Friend the Member for Na h-Eileanan an Iar for bringing forward this important debate and every Member who has contributed. 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. Question put and agreed to.

19:24:00