Genetic Haemochromatosis

Mark Pawsey Excerpts

Wednesday 3rd July 2019 Westminster Hall

[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.