Haemochromatosis Hits the News

Press Release

17 January 2019

Haemochromatosis has been highlighted in the media as a “common gene disorder causes serious “stealth” disease, but which could be easily treated”

Two major studies have confirmed that the iron overload condition haemochromatosis, previously thought to be a low-level health risk – although Haemochromatosis UK has stated its significance in the recently released Iron Overload Report –  actually quadruples the risk of liver disease and doubles the risk of arthritis, and frailty in older age groups. It also causes higher risk of diabetes and chronic pain. The studies in UK Biobank data found that the number of deaths from liver cancer in men with the faulty genes was significantly higher than expected, although the number of deaths was small.

The links to liver disease, frailty and cancer are significant, they add evidence to to the stories that Haemochromatosis UK (HUK) hears from patients and members.

The research, led by a group from the University of Exeter in the U.K. with the U.S. National Institute on Aging and the University of Connecticut, is published in The BMJ and The Journals of Gerontology: Medical Sciences.

David Head, Chief Executive at Haemochromatosis UK, said: “Recently Haemochromatosis UK made calls to action for more research into the impact of chronic pain on the lives of people with haemochromatosis, so as a patient organisation we were delighted to learn of this work by Professor Melzer and his colleagues. The paper adds to growing evidence that the impact of haemochromatosis on individuals and healthcare services has been enormously underestimated and poorly understood. The problem can no longer be dismissed.”

The research, funded by the UK Medical Research Council, suggests that routine screening may be needed for people at risk of haemochromatosis. Blood tests for iron and genetic testing are simple and cost-effective. The condition is easily treated by removing blood.

As many haemochromatosis patients may know, haemochromatosis causes people to absorb too much iron from their diet. It accumulates around the body over time, and if left undiagnosed it damages many organs and eventually causing disease. It is the most common genetic disorder in the UK. An estimated 250,000 people of European ancestry in the UK have the disease, which is caused when people have two particular faulty genes.  One in eight people in some areas of the UK are carriers, meaning they have one of the two faulty genes that cause the disease. If both parents are carriers then two faulty genes can be passed on to their children.

Symptoms can include feeling tired all the time, muscle weakness and joint pains, meaning it is often misdiagnosed as the signs of ageing. The researchers found that, at the time they enrolled in this study, men with two copies of the C282Y gene mutation associated with ‘classic’ GH, were two and a half times more likely than people without a C282Y mutation to have had a hip replacement.  Women with two copies of the C282Y gene mutations were almost twice as likely to have had a hip replacement.

Professor David Melzer, from the Universities of Exeter in the UK and Connecticut in the USA, who led the research, said: “The haemochromatosis mutations were thought to only rarely cause health problems. We’ve shown that hereditary haemochromatosis is actually a much more common and stealth disease, including in older people. We now need to test ways of screening and diagnosing haemochromatosis earlier. It’s exciting to think that better care might prevent so much unnecessary disease.”

The team analysed data from 2,890 people with the two genetic mutations (called HFE C282Y homozygous), nearly ten times more than in the previous largest study. Having two copies defines most diagnoses of haemochromatosis. Of that group, one in five men and one in 10 women with the mutations developed additional diseases, compared to those without mutations. The average age of those studied was 63, and the data suggested that even more disease developed at older ages. The team found that both the men and women with the mutations aged 65 to 70 were much more likely to suffer from frailty and chronic pain, and had lower muscle strength. Fourteen of those with the faulty genes studied died of liver cancer

Dr Roseanna Brady, Consultant Health Psychologist and trustee at HUK said: “These papers add to the evidence linking haemochromatosis to potentially debilitating and costly conditions including arthritis and osteoporosis, particularly in men. The findings with regard to higher levels of disease in older people supports the need to diagnose and treat haemochromatosis early.”

Dr Luke Pilling, of the University of Exeter Medical School, first author of the BMJ paper, said: “We found that diagnosis of haemochromatosis is often delayed or missed. That’s not surprising as symptoms such as joint pains and tiredness are frequently mistaken as signs of ageing. Yet it is likely that these potentially deadly health risks could be treated and avoided, transforming lives, especially at older ages.”

Professor Debra Lapthorne, Director for the South West at the government agency Public Health England, which supports Professor Melzer’s research, said: “’We really welcome this study and think the work will be clinically very important as the results could have implications for clinical practice and help us find people much earlier, before significant damage is done. This work shows the real benefit to the population of linking academic research to policy and clinical practice.”

The NHS advises that it is important to talk to your GP if you have a parent or sibling with haemochromatosis, even if you don’t have symptoms yourself – tests can be done to check if you’re at risk of developing problems. People are also advised to talk to their GPs about haemochromatosis if they have the following persistent or worrying symptoms – particularly if you have a northern European family background. Typical symptoms include feeling very tired all the time (fatigue); weight loss; weakness and joint pain. Also, some men with haemochromatosis develop an inability to get or maintain an erection (erectile dysfunction), and some women have irregular periods or absent periods. These symptoms usually come on between ages 30 and 60.

Haemochromatosis UK has long called for haemochromatosis (iron overload or GH) to move up the healthcare agenda and for more research into the condition. The recent formation of an All Party Parliamentary Group (APPG) for GH is a step towards helping GH move up the healthcare agenda, minutes from the first meeting of the APPG will be available next week.

The media interest in GH is more important now than ever as early diagnosis will help save lives, will help cut costs for the NHS and reduce unnecessary suffering for so many individuals and families.

The two new papers are:

Common conditions associated with Hereditary Haemochromatosis genetic variants: cohort study in UK Biobank. Luke C Pilling, Jone Tamosauskaite, Garan Jones, Andrew R Wood, Lindsay Jones, Chia-Ling Kuo, George A Kuchel, Luigi Ferrucci, David Melzer. The BMJ.

Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain:  Evidence from 200,975 Older UK Biobank Participants. Jone Tamosauskaite, Janice L Atkins, Luke C Pilling, Chia-Ling Kuo, George A Kuchel, Luigi Ferrucci, David Melzer.  Journal of Gerontology: Medical Sciences.


Notes to Editors

Haemochromatosis UK is a charity and patient organisation providing support and information for those with genetic haemochromatosis (Iron Overload Disorder). If you have or suspect you may have a health problem you should consult your doctor.

For quotes from Haemochromatosis UK, contact:

Tam Kaur Gulati

Communications Officer 03030 401101