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Haemochromatosis gene’s impact on carriers

Thursday January 17th, 2019

A genetic variant that causes haemochromatosis is more dangerous than previously thought, according to a new UK analysis.

Researchers found higher rates of the disease than previously estimated among those who carry the HFE C282Y mutation.

The findings led to calls for improved screening for this mutation.

The analysis of the UK Biobank found nearly 3,000 people with homozygous mutations. After seven years of follow up haemochromatosis had been diagnosed in 21.7% of the men in this group and 9.8% of the women.

There was also an increased likelihood of these people developing liver disease, osteoarthritis or rheumatoid arthritis. Some 14 people died from liver cancer.

This compared with previous studies suggesting “very few” of those with the gene developed haemochromatosis.

The researchers, led by Professor David Melzer, of the University of Exeter, say: “This is the largest study of its kind and findings were similar after additional analyses to test the strength of the results.

“In light of this evidence, and as treatment is safe and effective if started early, issues involved in offering screening and improving early detection of HFE C282Y mutations need re-examining to help prevent unnecessary disease, including at older ages.”

Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank. BMJ 17 January 2019

https://doi.org/10.1136/bmj.k5222

Tags: Genetics | Internal Medicine | UK News

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