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More Common Than Thought

The genetic disorder hemochromatosis could affect more people than previously thought, the BBC reports.

Hemochromatosis is one of the most common genetic disorders — stemming from a mutation within the HFE gene — among northern Europeans and is marked by the increased absorption and accumulation of iron from food, which can lead to liver and heart damage, according a press release from The BMJ. It had been thought that about 1 in 100 carriers became affected by the condition, but the BBC notes that new research pegs those numbers to be closer to 1 in 10 for women and 1 in 5 for men.

Researchers from the University of Exeter examined UK Biobank data to find 2,890 individuals who were homozygous for the p.C282Y mutation. As they report in The BMJ, the researchers found that hemochromatosis was diagnosed in 21.7 percent of the men and 9.8 percent of the women by end of follow-up. They also found that men between the ages of 40 and 70 homozygous for the p.C282Y mutation were also more likely to have been diagnosed with liver disease, rheumatoid arthritis, osteoarthritis, and diabetes, than those without the mutation.

"As p.C282Y associated iron overload is preventable and partly treatable, re-examination of the many issues involved in recommending expanded early case ascertainment or screening is justified," the researchers write in their paper.