Common gene disorder causes serious “stealth” disease, but could be easily treated

The western world’s most common genetic disorder causes far higher levels of serious disease and disability than previously thought, despite being easy to detect and treat.

Two major studies have revealed that the iron overload condition haemochromatosis, previously thought to be a low-level health risk, actually quadruples the risk of liver disease and doubles the risk of arthritis, and frailty in older age groups. 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. 

The research 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.

Haemochromatosis causes people to absorb too much iron from their diet. It accumulates around the body over time, damaging 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.

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.

Treatment initially involves the regular removal of blood, known as a venesection. This is usually carried out once every few weeks. When the iron levels are lowered, this reduces to around four times per year. This is known as maintenance therapy. Blood can be donated once the patient’s iron levels reach maintenance. As a result of these findings, a proposal has been put forward to NHS England to consider checking iron levels as part of the general NHS health check. 

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.