Genetic Haemochromatosis

Wednesday 3rd July 2019 Westminster Hall

16:29

[Mark Pawsey (Rugby) (Con)]

It is a pleasure to serve under your chairmanship, Mr Sharma. It is a great privilege to secure this important debate on genetic haemochromatosis. I chair the all-party parliamentary group for genetic haemochromatosis (iron overload). I want to raise awareness of the condition, within Westminster and beyond. I will explain what genetic haemochromatosis is and its prevalence within the UK. I will also look at how the condition fits into the NHS priorities. I will conclude with three asks to the Minister on behalf of the charity Haemochromatosis UK, which is represented here, and the APPG.

Until recently I knew nothing about the condition. Two or three years ago I visited the charity Haemochromatosis UK, which was based in my constituency, and the condition was explained to me. The lack of awareness of the condition and the importance of early diagnosis were brought to my attention. As a consequence of those discussions with the charity and some other hon. Members, some of whom are here, we formed the APPG earlier this year.

The APPG was based on the report published by Haemochromatosis UK in October 2018, which highlighted the previously underestimated impact of the condition, in terms of the number of people affected and the chronic effect it has on people’s lives. The APPG first met in January and we met again in May to talk about the adoption of clinical guidelines, which I will refer to later.

What is genetic haemochromatosis? It is a genetic condition in which the body fails to control the absorption of iron. Some hon. Members may have heard it described as iron overload or iron overload disorder. Iron builds up within the body and reaches a highly toxic level. That can lead to a multitude of different health problems. Iron builds up particularly in the liver and the damage is progressive. At its worst, iron overload can kill through liver and heart failure.

[Bob Stewart (Beckenham) (Con)]

I stand as an ignoramus on this matter, but I want to support my hon. Friend who is leading the debate, and I want to know more about the matter. Is this something that is in a baby from birth, and if not, what is the normal age at which it develops?

[Mark Pawsey]

This is a genetic condition that becomes apparent in some people who possess the gene. People are affected to a variable degree. I will come on to some of the debilitating consequences of genetic haemochromatosis, which include arthritis, joint pain, diabetes, fatigue, psychological or cognitive difficulties, skin conditions, menstrual problems in women, impotence, breathing and heart problems, abdominal pain, liver problems and hair loss.

Just because the condition is not widely spoken about, in either medical or public life, that does not mean that it is not prevalent in the UK. The white UK population of north-European extraction, particularly people of Celtic extraction, gives the UK the highest prevalence anywhere in the world. The condition is found around the world wherever the Irish and Celtic population has migrated to, including Australia, the Americas and South Africa.

One in eight people in the UK carry a faulty copy of the GH gene. That faulty gene is known as HFE. One in 200 people carry two faulty copies of the HFE gene. Those are the people at risk of iron toxicity. In layman’s terms, people must have two copies of the gene in order to be affected by the condition. It is estimated that around 380,000 people worldwide have the genetic haemochromatosis mutation. Of those 380,000 people, 200,000 are under 40 years old, which is why early diagnosis is important. If we can diagnose the condition early, people will not be overlooked and can attend to their symptoms.

[Rachel Maclean (Redditch) (Con)]

I congratulate my hon. Friend on securing the debate. I thank him for outlining, for those of us who do not have as much knowledge, how prevalent the disease actually is and how important it is that we get services and treatment right. I thank my constituent Roger Keyte, who is a trustee of Haemochromatosis UK. He has done a good job educating me. I thank him and others who are working hard to help the many people who are affected.

[Mark Pawsey]

My hon. Friend is exactly right. That charity, which serves to raise awareness, has done a fantastic job, and that includes her constituent. I should point out that this is a condition rather than a disease, because a disease may be considered to be contagious.

I mentioned that the prevalence is higher in Ireland. According to the Irish Haemochromatosis Association, in Northern Ireland one in five people are carriers. The incidence among people of Celtic origin leads to some people referring to genetic haemochromatosis as the Celtic curse, a term that is not looked on favourably, but does underline the prevalence among Irish, Scottish and Welsh people, and the need for them and their doctors to be aware of the condition. I am delighted to see hon. Members representing Welsh and Scottish constituencies here, some of whom I know will contribute to the debate.

I have already mentioned that the condition is poorly diagnosed. Recent research shows that at least 45,000 people affected in the UK are loading iron as their bodies fail to control the absorption. Only 10% to 13% of these cases are diagnosed. For every patient diagnosed, between eight and 10 have the symptoms but have not been diagnosed. They are suffering unaware of what is happening to them.

Dr Ted Fitzsimons of the University of Glasgow has done a great deal of work in this area. He highlights that 80% to 90% of individuals who have this condition are unaware that they have it. They do not know what it is. They know the symptoms, which affect them, but they do not have an explanation for them.

Professor David Melzer, from Exeter University, and the Haemochromatosis Research Group have conducted a UK Biobank study of half a million patients, which was published in January 2019. They found that people with the double haemochromatosis mutation had four times the risk of liver disease, twice the risk of arthritis and frailty among older age groups, and a 50% higher risk of pneumonia and diabetes compared with those who do not suffer from the condition. In the UK, there are currently 136,000 people with the condition aged 40-plus. The study found that of that generation of 136,000, approximately 12,200 will have had a hip replacement, which they would not have needed if they had been diagnosed earlier and treated for iron overload. However, the study has a caveat, as there is uncertainty about whether all those operations would have been avoided by early diagnosis. But as with any condition, we know that early diagnosis is crucial.

[Liz Twist (Blaydon) (Lab)]

Two of my constituents, Jane and Andrew, have haemochromatosis and have contacted me about this debate, stressing the importance of early diagnosis. Does the hon. Gentleman agree that it can be difficult sometimes for people to be clear about the symptoms, therefore making it can be difficult to get a diagnosis, and that we must work on that?

[Mark Pawsey]

The hon. Lady is exactly right. Very often, people suffer from the symptoms and persevere. They feel tired and just generally unwell, but they do not know why they are affected, so awareness of the condition among the medical profession when people present with those symptoms is vital in identifying those affected.

In terms of the additional demands placed on the NHS, we can estimate an extra 564 patients diagnosed with liver disease and 125 new liver cancer patients every year from among those with the condition. If we can diagnose it, enable patients to be aware of it and deal with it earlier, we can prevent it from making such a substantial demand on the NHS.

[Bob Stewart]

I congratulate my hon. Friend on securing this debate. As I am half-Scottish, have had my hip replaced and feel tired most of the time, I am worried, but not as worried as doctors must be, because it seems to me that if someone goes to a general practitioner with normal symptoms like that, it must be bloody difficult for them to diagnose the condition. Everyone here is nodding, so I presume that is right.

[Mark Pawsey]

My hon. Friend makes a valuable point. Next time he visits his GP, he can ask, armed with the knowledge that he has as a consequence of this debate, whether the condition might be something to consider.

Let me turn to the cost saving to the NHS. The basic test for iron levels in blood would cost only £1 per patient if routinely done at the same time as other blood tests. The test is not commonly done; perhaps it should be. Iron testing could be added to the NHS health check, which people receive at the age of 50. That might provide a pointer to some of the symptoms that my hon. Friend has referred to.

The UK Biobank study also indicates that the HFE gene is associated with significant morbidity, in particular associated arthritis and liver disease. Of course, because of the influence of the liver, there is a highly increased risk of liver cancer compared with the general population. There are approximately 6,000 cases of liver cancer per annum nationally, and the outlook for those with liver cancer is particularly poor. The survival rate for liver cancer is among the lowest of all cancers. Professor Ted Fitzsimmons of Glasgow University estimates the cost of a liver transplant at around £100,000. That is a broadbrush estimate, which excludes personal costs such as loss of employment and the need for family members to help with caring. Again, we know that early diagnosis could not only improve the lives of those affected but result in significant savings for the NHS.

Since my involvement with genetic haemochromatosis began, one thing that has had an impact on me is the stories of patients affected by it. I will read out a couple of patient testimonies. One comes from another trustee of Haemochromatosis UK, Michelle Weerasekera. This is her account:

“I was diagnosed with genetic haemochromatosis after suffering from chronic fatigue for some time. I had visited my GP and been told to take folic acid and wouldn’t have returned had I not had a routine blood test carried out for an insurance policy that I was taking out.”

She therefore became aware of her condition accidentally. She continues:

“I returned to my GP, who, thinking that I may be anaemic, ran a ferritin test. This showed that my results were elevated and I was referred to a Haematologist. I had a FerriScan carried out which showed some stored iron in my liver but luckily with regular venesections”—

the taking of blood—

“over the last eighteen months I have managed to reduce my ferritin levels and am now in what is called the ‘maintenance phase’. I hope to soon become a regular blood donor”—

an issue that I will raise with the Minister later on—

“so that my blood can be put to good use. I know how lucky I have been by being diagnosed when I was. Having talked to my GP since diagnosis, I know that Haemochromatosis was not on his radar and this is why raising awareness is so important. Had I not returned to the GP, my body would have carried on storing iron and the outcome and my future health may have not have looked so positive.”

The second piece of testimony comes from another patient with genetic haemochromatosis, a young woman. Katharine Hough is only 27 and has had to fight to be taken seriously by the medical profession, largely because genetic haemochromatosis generally affects older people. The key point about Katharine’s concerns is that she is relatively young. She says:

“Despite the advantage of being diagnosed young, I have often had to fight to be taken seriously by the medical profession. Doctors seem to think it will not affect me as I am young and they are accustomed to solving health issues rather than helping to maintain good health and prevent problems.

I have had many cases where specialists think that, as I am a young woman and my symptoms are not as severe as those suffered by older people, I am healthy and have nothing to worry about. But I am only 27...If they stop and think for a moment to consider it, I should not have joint pains, and my knees should not hurt when I walk. I want to prevent further damage and not wait until my symptoms are very bad…It is my health and only I can fight for it.”

Both these stories highlight the importance of early diagnosis and increased awareness of the condition among GPs and other medical professionals.

The frustrating thing is that in a large number of cases treatment will alleviate many of the symptoms. The earliest intervention prevents many of the problems that I have described, including the build-up of iron in the liver and heart. In the vast majority of cases, treatment is venesection, which is essentially giving blood. Done intensively, this removes excess iron from the body effectively. Done regularly, it will maintain iron levels. In simple terms, the body uses some of the stored excess iron to make red blood cells to replace those that have been removed.

Venesection is a safe and proven procedure. It is similar to donating blood, as those of us who donate blood will realise. The blood taken from a haemochromatosis patient is perfectly useable and would go some way to addressing NHS blood demand. However, blood taken in a venesection clinic is discarded, which does not seem to make sense. I will come back to that in my final remarks and asks of the Minister.

Why is this condition not higher on the UK health agenda? There are many and varied reasons, but one key reason is the lack of consistent clinical guidelines. What protocols exist are often non-mandatory, related to an individual trust, inconsistent and poorly adopted. The University of Exeter has conducted some research into the impact of iron overload, which shows wide inconsistencies in the experience of patients, and the prevalence of chronic symptoms arising from non-diagnosis is much higher in the UK than was previously thought. I am looking for the Minister to respond to the point about introducing guidelines. If there were guidelines, that could increase diagnosis perhaps as much as tenfold. That would prevent many people from developing the follow-on conditions, such as cancer, heart failure and diabetes, that I have referred to.

A consultant rheumatologist at St George’s Hospital in London, Dr Kiely, says that the cost of a typically large joint replacement is in the order of £10,000—which may be of interest to my hon. Friend the Member for Beckenham (Bob Stewart). Dr Kiely has also said that the big impact on healthcare costs would be in primary care, from delays in diagnosis. Those who suffer from genetic haemochromatosis suffer from less productivity when they are at work. They often have to take time off work, but also often want to continue at work. That leads to presenteeism, where people turn up for work but are ineffective because of the debilitating conditions that they suffer from. All those are costs to society, and are burdens that patients have to deal with.

A January 2019 editorial in The Lancet on gastroenterology and hepatology said:

“We wholeheartedly support the need to increase education and awareness of genetic haemochromatosis among clinicians to improve early diagnosis. The necessary tools are in hand, the guidelines are clear, and”—

very significantly—

“their implementation would be…cost-free. It is difficult to imagine a clinical problem that represents lower-hanging fruit for the…NHS. As such, there is no time like the present to elevate the priority of genetic haemochromatosis on the UK healthcare agenda.”

Professor Ted Fitzsimmons of the University of Glasgow, who attended the most recent meeting of the all-party parliamentary group for genetic haemochromatosis, has produced a set of guidelines for this condition. Those guidelines have been endorsed by a number of professional medical bodies, and the APPG would like them to be adopted and expanded on by the National Institute for Health and Care Excellence in order to improve and increase diagnosis, and to improve and, importantly, standardise care after diagnosis. We believe that doing so would put genetic haemochromatosis higher on the NHS agenda.

This condition fits into two of the priorities of the NHS long-term plan. First, the plan talks about prevention. Prevention of genetic haemochromatosis affecting patients means effective diagnosis before the damage is done. If we can identify it, we can save the NHS money and ensure that patients’ health is protected early. The Secretary of State for Health and Social Care drew attention to that in November last year, when he said that

“if we get prevention right, it holds the key to longer, healthier, happier lives and a sustainable, high quality health and care system… It’s why…I made it one of my big three priorities”.

There is no easier win than adopting prevention for this condition.

Another NHS priority is supporting people to age well. The University of Exeter report highlighted the impact of genetic haemochromatosis on our ageing population, and we know that the condition affects arthritis and frailty in older age groups and increases the risks of diabetes and chronic pain. It is an issue that we need to address.

My three asks of the Minister, which I hope she will respond to in her remarks, are as follows. First, what steps can she take to ensure that those who are affected are promptly and correctly identified, regardless of where they live? We have already heard that early diagnosis saves lives, yet so frequently people with genetic haemochromatosis suffer needlessly as a consequence of late diagnosis. Secondly, what steps can she take to encourage the NHS to adopt, share and embed the best practice we have referred to, both through screening and associated therapies, to ensure that venesection is available? We know from Haemochromatosis UK’s 1,800 members that NHS standards vary widely across the country. With a single system, we could offer a consistent, world-class approach.

That brings me on my third point. How can the Minister encourage different areas of the NHS system to collaborate more effectively to realise the economic benefits of joined-up care, and also the benefits to the patient? One example would be making use of the blood taken during venesection, incentivising NHS Blood and Transplant to make greater use of genetic haemochromatosis patient blood to meet ongoing needs. It is astounding that the blood collected is wasted. That distresses many of the people affected by genetic haemochromatosis, who take the view that if they are going to have their blood taken, they would love for it to be used productively to support other patients.

Mr Sharma, I know that other Members wish to contribute. I look forward to the Minister’s response to our asks at the conclusion of the debate.

16:54

[Liz McInnes (Heywood and Middleton) (Lab)]

It is a pleasure to serve under your chairmanship, Mr Sharma. I am grateful to the hon. Member for Rugby (Mark Pawsey), the chair of the all-party parliamentary group for genetic haemochromatosis, for having brought this debate before the House. It is an important subject; I asked for a debate on it earlier this year following the release of the University of Exeter’s research, which showed that this condition was 20 times more common than was previously thought, so I am pleased that the hon. Gentleman has secured this debate. I am also grateful to the charity Haemochromatosis UK, which is based in his constituency and whose website contains a wealth of useful information.

The hon. Gentleman has given a comprehensive opening speech, showing his understanding and knowledge of this condition, so I do not need to repeat it. Instead, I will talk about the research that was published this year and its implications. As we have heard, haemochromatosis is thought to be the UK’s most common genetic disorder and is inherited in a recessive manner, linked to a faulty gene passed from both parents to their child. It was previously believed to seriously affect about one in 100 carriers, but the new research has suggested that the true level could be closer to one in 10 among women, and one in five for men.

Researchers at the University of Exeter analysed data from 2,890 people from the UK Biobank who had the specific mutation to which the hon. Gentleman referred. The research was conducted on subjects aged between 40 and 70, so the point he made about that research being limited in its age range was a good one. In the light of those findings, the UK National Screening Committee has said that it will look at the evidence on screening for haemochromatosis in 2019-20, as part of its routine three-yearly review. I would be interested to hear the Minister’s comments about that.

The lead researcher, Professor David Melzer of the University of Exeter, has said that haemochromatosis is easy to treat if diagnosed early enough, which I think is the key point of this debate. However, the hon. Member for Rugby has observed that haemochromatosis can be difficult to spot, which is also a pertinent point. A lot of the symptoms can be very non-specific, and it is not a condition that is uppermost in the minds of general practitioners, which is why we are now considering routine screening. As we have heard, the treatment is relatively simple and involves regular venesection, or bloodletting. As the body makes more blood to replace that which is taken, it uses up the excess stored iron. That treatment, if started early enough, can avoid the complications of haemochromatosis that we have already referred to—liver failure, diabetes, chronic pain and severe arthritis—developing later in life.

I will illustrate the effect of having a diagnosis of haemochromatosis later in life by telling the story of my constituent, Paul Dicken. Paul has given me permission to use him as a case history, and I think his story will strike a chord with many haemochromatosis sufferers. He was diagnosed only this year after years of suffering from symptoms including liver, joint and stomach problems, for which he has been taking multiple painkillers over the years. Since his diagnosis, he has been having venesection, but he tells me that he now suffers from lethargy due to the frequency of venesection, no energy, muscle loss and joint pain. He has said that his depression is hitting a new low and, regarding his eventual diagnosis, has said that

“I was being asked for a long time if I had a drink problem because of my liver problems…but I don’t drink and the haemochromatosis was only discovered because the doctor was worried about my white blood cells being high.”

Paul’s case is a clear example of how raising awareness of the disease among GPs and medical professionals might have helped him get an earlier diagnosis and spared him some of the painful symptoms and possibly inappropriate treatment he had. I am grateful to him for allowing me to tell his story. Testing for iron overload is simple and GPs should be aware of the transferrin saturation test, where a result of greater than 50% indicates a risk of iron accumulation. If such a result is found, the patient should be referred to secondary care for further tests.

[Bob Stewart]

From what I have heard today, which is the entire encyclopaedia of my knowledge, it seems to me that we could cover the issue pretty well if every blood test included a check, because most people have blood tests at some stage—that happens fairly often these days.

[Liz McInnes]

I thank the hon. Gentleman for making that point, but I issue a caveat about blanket screening: it has to be proven to be clinically effective and it must not throw up false positives and false negatives. The tests are fairly specific for haemochromatosis, but they will have to go through an evaluation process, as I am sure the Minister will inform us when she makes her closing remarks.

At this stage, I want to mention the biomedical scientists and clinical scientists working in our NHS pathology labs. Those often unsung heroes of the NHS are the people who will be performing the tests. Indeed, that was my profession before I was elected as the MP for Heywood and Middleton.

In closing, I want to say that it is important to discuss with any patient diagnosed with genetic haemochromatosis the desirability of genetic testing for other members of the family, as there is at least a one in four chance that a sibling will also have haemochromatosis. Family checks frequently lead to the detection of haemochromatosis before organ damage has occurred. That is important.

It is important we are having this debate. Early diagnosis will help save lives, help cut costs for the NHS and reduce unnecessary suffering for so many individuals, such as my constituent Paul, and families around the UK.

17:02

[Martin Docherty-Hughes (West Dunbartonshire) (SNP)]

It is good to see you in the Chair, Mr Sharma. I congratulate the hon. Member for Rugby (Mark Pawsey) on all the work he does through the all-party parliamentary group and on securing this debate. It is a delight to follow the hon. Member for Heywood and Middleton (Liz McInnes) and hear about the experiences of their constituent. It is said that the Celtic peoples have a tendency for fair skin, freckles and being ginger. I do have fair skin on the odd occasion, I do have freckles and I am ginger, although Members might not believe it without a head of hair on me.

Having a name that in the ancient is Máirtín Ó Dochartaigh-Ó hAodha—I will send Hansard the spelling—it should come as no surprise that the Celtic curse, as the hon. Member for Rugby pointed out it is commonly known, looms large in my constituency. It has one of the highest proportions of the Irish diaspora anywhere in these islands. There is also the Celtic connection, in that Dunbreton was the capital of the Britons. I believe they moved to Wales around the year 600. We have a huge idea of what this means in terms of haemochromatosis. Let me be clear though, that just because someone is a Scot does not mean they are a Celt. We need to be clear on that, but the ethnic link with western Ireland—I am sometimes known as not only the Member for West Dunbartonshire, but the Member for Donegal—gives an idea of the genetic links of the condition.

I want to highlight my constituent, David McAleer, who is a well-known member of my constituency through Clydebank FC. David has given me permission to talk about him today. He wants to pay his respects to Dr Fitzsimons and his team for everything they do at the University of Glasgow. David got the condition diagnosed because his mum got diagnosed—this is not only about men—and after that, his younger brother got the diagnosis. His father on the other side of the family is a carrier, as are his two other brothers. Indeed, my own late father-in-law heard he had the condition later in his life, before he passed away. My brother-in-law went on to get tested, and he also has haemochromatosis. He lives a very lively life indeed.

It is important to state that we need some clear facts about the condition. In my constituency, on the basis of statistics and population—I am grateful to Haemochromatosis UK for the numbers—350 people would have haemochromatosis, but given the genetic make-up of my community, which is not that diverse in its Celtic make-up, I would assume that to be far higher. Early diagnosis is key in treating the condition and its long-term impact in other areas of healthcare provision, whether that is liver transplant—the costs of that vary across the UK—hip problems, bone issues or a whole range of other issues. There is a call to arms—it might not go down too well with some people—of offering automatic testing from birth to identify haemochromatosis in young people as quickly as possible, to deal with the reality of haemochromatosis and its broader impact on society across the whole UK.

It is notable that other major issues include alcohol consumption. In Scotland, we have for many years been confounded by high levels of alcohol consumption. Those are now reducing, and I congratulate the Scottish Government on pushing forward minimum pricing, but that is only part of a healthier lifestyle. We have to think about the type of food we consume, and how much of it, and, more importantly, about taking iron supplements. People should not take an iron supplement because they read in a magazine that it will help them feel better; they should go along to their doctor.

My clarion call to those watching today, especially in my constituency, is to go and talk to the medical profession about how they are feeling. They should try to get the test. It might not only save them a lot of time, but they will most probably save the NHS a lot of money and ensure that those in the medical profession in my constituency know more about the condition. I finish by congratulating the hon. Member for Rugby, the members of the Haemochromatosis UK who are here and the members of the APPG for the hard work they are doing on this issue.

17:07

[Ben Lake (Ceredigion) (PC)]

Diolch, Mr Sharma. It is a pleasure to serve under your chairmanship. I congratulate the hon. Member for Rugby (Mark Pawsey) on securing this important debate and I pay tribute to Haemochromatosis UK for its work supporting both the sufferers of the genetic condition and the all-party parliamentary group. If I may, I particularly thank Lisa Flude, who first brought the condition to my attention and has been an invaluable source of information and advice to me in recent months.

As we have already heard this afternoon, genetic haemochromatosis is the most common genetic disorder in the UK and yet it remains largely unknown or unfamiliar. Too often it is poorly diagnosed and managed. Approximately 10% of individuals of white European descent in the UK—as my hon. Friend the Member for West Dunbartonshire (Martin Docherty-Hughes) pointed out, this particularly affects those of Celtic descent—or some 5 million people are believed to be genetic carriers of the mutated copy of the haemochromatosis or HFE gene, as the hon. Member for Rugby mentioned. Perhaps 100,000 or 200,000 people might have two mutated copies of the HFE gene and are then at the risk of iron toxicity or overload and the subsequent diseases and conditions that can emerge from that. Yet—this is the nub of the debate in my opinion—for every patient diagnosed with the condition, between eight to 10 are left undiagnosed and unaware of the risk to their health. It is some risk, too: although genetic haemochromatosis is easy to diagnose and to treat, if left untreated it has serious consequences.

The hon. Member for Heywood and Middleton (Liz McInnes) referred to the two recent studies led by groups from the Universities of Exeter and Connecticut. They have shown that the condition quadruples the risk of liver disease and doubles the risk of arthritis and that individuals with the condition are at higher risk of diabetes and chronic pain. In addition to those serious health complications of iron overload, individuals with genetic haemochromatosis can suffer from fatigue, muscle weakness and joint pains. Unfortunately, those symptoms are often mistaken for the signs of ageing or tiredness, but together they can still prove debilitating. Yet genetic haemochromatosis can be diagnosed and treated effectively when detected. The treatment, as we have already heard, entails venesection. I will not go into that any further, but it is a safe process that should be widely available across the UK.

Given the pervasiveness of genetic haemochromatosis and the serious impact that iron toxicity has on an individual’s health and wellbeing, the case for ensuring consistent and effective diagnosis of the condition across the UK is clear. It is not a condition for which there is no treatment or diagnosis. The problem that we face is the lack of consistency, or standardisation, as the hon. Member for Rugby put it, in the application of clinical guidelines.

A survey of health boards across the country showed that even where protocols are in place they are often non-mandatory and differ between boards. Sometimes they are discipline-specific, which can be problematic in itself when we consider that haemochromatosis is often treated by a range of specialists, including hepatologists, haematologists and gastroenterologists.

Introducing standardised guidelines, and ensuring their consistent application, has the potential to increase diagnosis rates tenfold. Early diagnosis prevents so much unnecessary pain and suffering. I hope that the Minister can explore the introduction of more standardised guidelines or patient pathways for the diagnosis of this condition, as it would vastly improve treatment and management of the condition.

If further persuasion were needed, improved diagnosis and earlier treatment of genetic haemochromatosis has the potential to save the NHS considerable resources in the long term, as other Members have mentioned. Iron overload can cause a range of cancers, heart failure, diabetes, and joint disease. Researchers have found that, for men, 1.6% of all hip replacements and 5.8% of all liver cancers occurred in those with two HFE genes. The treatment of those conditions exerts incredible pressure on both primary and hospital care, without considering the impact that multiple appointments over years by patients with non-specific chronic conditions have on primary care.

I am conscious that you want me to finish, Mr Sharma, so to conclude, addressing the current lack of national or standardised guidelines and thus improving the rate of diagnosis of genetic haemochromatosis could reduce the unnecessary suffering of thousands of individuals, while saving the NHS much-needed resources. As somebody more eloquent than I put it, it is a no-brainer.

[Mr Virendra Sharma (in the Chair)]

I am sorry, I was conscious of the time—I want the Minister and the Opposition spokesperson to respond as well. I call Gavin Newlands.

17:09

[Gavin Newlands (Paisley and Renfrewshire North) (SNP)]

Thank you, Mr Sharma; it is a pleasure to see you in the Chair. I will start, as is customary, by congratulating the hon. Member for Rugby (Mark Pawsey), who chairs the all-party parliamentary group on genetic haemochromatosis, not only on securing today’s important and historic debate, but on setting out in such detail the nature of the condition, its prevalence, the symptoms and the available treatments, such as they are.

The hon. Gentleman spoke of the great work of Professor Ted Fitzsimons at the University of Glasgow, and of the fact that not only do the majority of people with the condition not know they have it, but thousands of hip replacements may not have been required, as my hon. Friend the Member for Ceredigion (Ben Lake) also mentioned. I wholeheartedly endorse the three asks that the hon. Member for Rugby made of the Minister, and I look to forward to hearing her response.

The hon. Member for Heywood and Middleton (Liz McInnes) spoke of research involving nearly 3,000 individuals and the possibility of screening for GH, as I will call it from here on in to avoid tripping over it. She concurred with the hon. Member for Rugby that, given the symptoms, without screening the condition will remain difficult to diagnose.

My hon. Friend the Member for West Dunbartonshire (Martin Docherty-Hughes) spoke of his fair skin and freckles, and of being a ginger. He also spoke of the Celtic curse. I am not sure about the Celtic curse, but he is certainly known for his Celtic verse, as we heard during his contribution. He also spoke of his constituent, David McAleer, and his GH story, and of Scotland’s relationship with alcohol, and what we are doing to tackle that.

My hon. Friend the Member for Ceredigion—I never pronounce his constituency correctly—spoke of how, for every person diagnosed, around eight to 10 go undiagnosed. He also mentioned the serious impact that iron toxicity has on health and wellbeing.

I, too, am a member of the all-party parliamentary group. The reason I am a member is because my dad has genetic haemochromatosis. I have not been tested myself yet, but I should, and will, endeavour to do so at some point in the near future. My dad was unaware of his condition; it turned up in a routine blood screening. He felt fine and had no symptoms that he was aware of at that point. My dad had further checks, including several ultrasounds, an endoscopy and a liver biopsy. When he was diagnosed, he did some digging around on the internet and found that he absolutely should not touch oysters. Google says lots of things, but apparently oysters could prove fatal. He told me and I had a look, and it also said that he should regulate his alcohol intake. When I pointed that out to him, he did not want to know that fact, but he was quite happy to accept the point about oysters—that is my dad for you.

My dad was not put on medication. We have already heard that the treatment is venesection. I am told that the normal ferritin level is around 50 to 60, or thereabouts, but when my dad was diagnosed his level was around 2,400, so it was quite high. He still did not have any symptoms at the time. He went on a weekly course of bloodletting for some time, and his levels are now normal. All he does now is go for a venesection every few months and watch his diet, particularly breakfast cereals, most of which are fortified with iron. Most concerning for him is the fact that he cannot eat Stornoway black pudding any more.

As we know from everyone who has spoken so far, early diagnosis is key. The Scottish National party welcomes the debate, as it offers an opportunity to raise awareness about GH and its symptoms for the first time in the history of the House of Commons. We also welcomed the “Living with the Impact of Iron Overload” report released last year.

Early diagnosis would reduce the demand on primary care services from tens of thousands of chronically affected patients, for whom the underlying cause of GH remains unidentified. Some Members have already outlined the substantial economic benefit of early diagnosis on top of the health benefits to the individual. The cost of a blood test to detect iron overload at an early stage is a few pounds at most. The cost to the NHS of a liver transplant, arising as a result of the lack of early diagnosis, could be close to £50,000.

The Scottish Intercollegiate Guidelines Network—SIGN—collaborates with clinicians and health and social care professionals to develop evidence-based guidelines. Were SIGN to publish guidelines regarding GH, we would welcome that. Introducing guidelines would have the potential to increase diagnosis as much as tenfold.

I thank the hon. Member for Rugby again for introducing this important debate and for bringing this condition to the attention of the House. I look forward to working with him and the rest of the APPG in keeping the pressure on the Minister, the Government and the NHS.

17:18

[Mrs Sharon Hodgson (Washington and Sunderland West) (Lab)]

It is an honour to serve under your chairmanship, Mr Sharma. I thank the hon. Member for Rugby (Mark Pawsey) for securing this important debate, and for his excellent and detailed speech, which set the scene. I congratulate him on establishing the all-party parliamentary group on genetic haemochromatosis earlier this year. I have set up a number of all-party parliamentary groups and am a big believer in them. I know how important they are in getting things one, cross-party, in this House. I am pleased that he was able to bring the condition to the House’s attention.

I thank all hon. Members who have spoken in the debate—in particular my hon. Friend the Member for Heywood and Middleton (Liz McInnes) and the hon. Members for West Dunbartonshire (Martin Docherty-Hughes), for Ceredigion (Ben Lake), and for Paisley and Renfrewshire North (Gavin Newlands)—as well as my hon. Friends who made helpful interventions.

As we have heard, GH is a genetic disorder that causes the body to absorb excessive amounts of iron from the diet. Iron overload occurs in one in every 200 people and is now recognised as the most common genetic disorder. Although GH cannot be prevented, its symptoms and health implications can. When untreated, GH can cause serious health problems, including fatigue, weight loss, irregular periods, type 2 diabetes, early menopause and depression.

GH was previously thought to be a low-level health risk, but a study by the University of Exeter found that the genetic condition usually quadruples the risk of liver disease and doubles the risk of arthritis and frailty in older age groups. As hon. Members have already said, treatment of those conditions comes at a huge cost to the NHS, so it is important to ensure that symptoms are prevented by diagnosing GH early and advising on how to avoid iron overload.

[Sir George Howarth (Knowsley) (Lab)]

My hon. Friend must have extra-sensory perception because I was going to ask if she agreed with everybody else who stressed the importance of early diagnosis, and she just did.

[Mrs Hodgson]

Excellent. If something is worth saying, it is worth saying more than once.

With early diagnosis in mind, I have a number of questions for the Minister; I will rattle through them quickly. What assessment has she made of the diagnosis pathway for patients suspected of having GH? How early are patients diagnosed after presenting with symptoms, and which diagnosis route is the most successful and least painful and invasive for patients? Is that diagnosis route available across NHS trusts and clinical commissioning groups? When someone is diagnosed, is it routine for their family to be tested and treated?

GH can be aggravated by environmental and lifestyle factors, so can the Minister assure the House that patients with GH are clearly advised on how to care for themselves if they have the disorder? Are patients given direct advice on their diet and on alcohol and tobacco consumption? As we have heard, that can make the condition easier to manage, if the advice is taken on board, of course—often people do not want to hear what is good for them, myself included. Where necessary, is support available to help patients reduce their alcohol consumption and to quit smoking?

As we know, diet, alcohol and tobacco consumption have huge health implications for all society and cost the NHS millions in treatment. It is therefore crucial that public health services are available to everyone to allow them to live heathier lives, especially patients with GH, who are more susceptible to health problems relating to the heart and liver.

I never miss an opportunity to call on the Minister once again—if she can; it might be above her pay grade—to reverse the public health budget cuts that have decimated our vital public health services. I also urge her to ensure that when the prevention Green Paper is published—I have heard rumours that it could be as early as Monday—patients with any existing conditions are also taken into consideration for prevention, so that their symptoms can be controlled, too. I look forward to her response.

17:23

[The Parliamentary Under-Secretary of State for Health and Social Care (Seema Kennedy)]

It is a pleasure to serve under your chairmanship, Mr Sharma. I know that I am pressed for time, so if I do not respond to all comments I will happily write to hon. Members. I thank my hon. Friend the Member for Rugby (Mark Pawsey) for securing this important debate on genetic haemochromatosis. I also thank his fellow members of the APPG and all right hon. and hon. Members who have spoken in the debate for highlighting the disease, which affects so many of us. The hon. Member for Heywood and Middleton (Liz McInnes) in particular, with her scientific knowledge, made a very good speech.

The Government are dedicated to improving the lives of all patients who live with rare diseases, as set out in the NHS long-term plan and the rare diseases strategy. Clearly, early diagnosis and treatment is key to prevent the development of the conditions that can arise from GH. I hope to be able to answer all the questions raised by my hon. Friend the Member for Rugby and others.

One part of diagnosis is genetic testing. That is a more recent development in haemochromatosis and is used to determine whether a mutation in the HFE gene is present, which can lead to iron overload. In January 2019 the NHS long-term plan set out the ambition to focus targeted investment in areas of innovation, including genomics. Last year NHS England launched its genomics medicines service, making the UK the first country in the world to integrate whole genome sequencing into routine clinical care. The GMS aims to provide consistent and equitable access to cutting-edge genomic testing to England’s population.

The first national genomic test directory, which underpins this service, was published in March 2019. It specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available and the patients who will be eligible to access them. GH is included in the directory. To ensure that the directory remains at the cutting edge, it will be updated on an annual basis to keep pace with scientific and technological advances. We are developing a national genomic healthcare strategy, which is overseen by Baroness Blackwood, and that is happening alongside work with the Office for Life Sciences.

Hon. Members have referred to the UK National Screening Committee’s 2016 evidence about whether testing should be offered—as the hon. Member for Heywood and Middleton said, that raises massive ethical questions. That was because not all people with the faulty HFE gene—as somebody who is half-Irish, I am now concerned—will go on to develop the condition. At the time, no evidence was found that provided that committee with evidence that a screening programme would be effective. However, it is important to take account of new evidence and developments as they emerge. The screening committee is always keen to consider new research and will be looking at new evidence to screen for hereditary haemochromatosis in 2019-20. I assure the House that I will follow that with great interest.

GH is not currently part of the NHS health check, but Public Health England routinely publishes open calls for proposals for new content to include in the check, which they consider in view of evidence, cost, clinical effectiveness, feasibility of implementation and health equity. On NICE guidelines, the British Society for Haematology has already published guidelines on the management of GH. They were last updated in 2018. NHS England is the body with responsibility for commissioning new clinical guidelines from NICE. If anyone considers that guidance from NICE would add value, proposals for such guidelines can be made to NHSE.

The shadow Minister made some points about the public health budget and the Green Paper, which we have often discussed. They will of course be subject to best evidence in the spending review. My hon. Friend the Member for Rugby talked about patient blood meeting ongoing national needs for donated blood, red blood types and associated blood products. NHS Blood and Transplant has been working in close partnership with Haemochromatosis UK to engage with patients with GH and to inform them that they are able to have their blood removed through blood donation. During National Blood Week in June this year, articles and social media posts were used to inform patients about the procedure for donating blood at a blood donation centre. NHSBT is continuing its work to ensure that patients are informed about the life-saving gift that they can give.

Patients who want to donate blood instead of having venesections have to meet the criteria set out by NHS Blood and Transplant for all donors, and they are advised to have iron check-ups with their consultant. Patients who want to donate blood need to call the NHS Blood and Transplant national call centre to inform it of their condition. That will allow the haemochromatosis patient to donate blood at a donation centre more frequently than the rest of the population.

I thank all right hon. and hon. Members and the members of Haemochromatosis UK who have helped us to raise awareness of this condition, because there is a significant gap in our understanding. Hon. Members have rightly pointed out that this is the first time we have discussed GH in this House. I fully recognise the need to raise awareness about GH among healthcare professionals and to provide training. I reassure the House that the Government are committed to ensuring that those affected by rare diseases receive high-quality care.

Question put and agreed to.

Resolved,

That this House has considered genetic haemochromatosis.

17:29

Sitting adjourned.