Study shows hereditary hemochromatosis behind many cancers and joint diseases

By Dr. Ananya Mandal, MDJan 20 2019

A British study has found that “stealth disease”, also known as hemochromatosis, could be the reason behind several disease conditions including cancers and joint diseases. These diseases were earlier thought to be a part of ageing, but this new study finds that hemochromatosis or build up of iron within the body is a prominent reason behind these conditions. The study reports were published in the latest issues of the journals BMJ and Journal of Gerontology.

Hemochromatosis is a hereditary condition that is found among people of European descent commonly and was thought earlier to affect only around 1 percent of the population. This condition is caused by a genetic mutation.

This latest study is one of the largest till date in the UK and US. It finds that around one in five men and one in ten women are affected with this genetic mutation carrying one or both affected genes. This condition leads to iron overload. This new study finds that 1.6 percent of hip replacements and 5.8 percent of liver cancers among males are linked to hemochromatosis. The common early problems these men face include fatigue and joint pain. In the UK around 250,000 people suffer from this condition. One in 200 individuals in Europe have this condition with a prevalence among the Irish, Scottish and the Welsh. This has nicknamed the disease “Celtic curse”.

This new study looked at 2,890 patients enrolled the UK Biobank scheme. They all carried a mutation in their HFE C282Y gene that led to their condition. Professor David Melzer from Exeter University, who led the research, said in a statement, “The hemochromatosis mutations were thought to only rarely cause health problems... We’ve shown that hereditary hemochromatosis is actually a much more common and stealth disease, including in older people.” He urged researchers to come up with better screening systems and methods to detect this condition early. '

He explained that people with hemochromatosis tend to absorb twice as much iron from their diet compared to those who do not have this condition. Some of this iron is used to form the red blood cells and others get deposited around the body especially in the liver, experts add. This iron overload leads to increased risk of liver disease (four times) and arthritis (two times). It also raises the risk of chronic pain and diabetes.

Co-author Dr Luke Pilling in a statement said, “We found that diagnosis of hemochromatosis 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.”

Public Health England lauded this research. Professor Debra Lapthorne, of PHE 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 UK National Screening Committee has said in a statement that they would “look at the evidence to screen for hemochromatosis in 2019/20, as part of their routine three yearly review.”