Genetic Haemochromatosis

Part of the debate – in Westminster Hall at 5:07 pm on 3rd July 2019.

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Photo of Ben Lake Ben Lake Plaid Cymru, Ceredigion 5:07 pm, 3rd July 2019

Diolch, Mr Sharma. It is a pleasure to serve under your chairmanship. I congratulate 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 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.

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.