Genetic Haemochromatosis

Liz McInnes Excerpts

Wednesday 3rd July 2019 Westminster Hall

[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.