Genetic screening could prevent ‘substantial’ haemochromatosis burden


One of the most common genetic disorder is associated with much higher levels of haemochromatosis than previously thought, a UK study has shown.

People who have a HFE C282Y gene mutation  – present in about one in 150 Australians – are up to 400 times more likely to develop haemochromatosis than those without the mutation, according to researchers from the University of Exeter.

Therefore screening early in life for the gene mutation could help avert many of the consequences of haemochromatosis -such as arthritis – that may be mistaken for symptoms of old age, they suggest.

The findings come from an analysis of disease data for 2,890 people with HFE C282Y mutations derived from the UK Biobank database of more than half a million men and women recruited between 2006 and 2010.

Participants were followed up for an average of seven years, during which time haemochromatosis was diagnosed in 21.7% of men and 9.8% of women homozygous for HFEC282Y mutations.

Men who were homozygous for the HFE C282Y mutation (approximately 0.6% of European population) had a higher prevalence of diagnosed haemochromatosis (Odds Ratio 411.1) and illnesses associated with iron overload such as liver disease (OR 4.30), rheumatoid arthritis (OR 2.23), osteoarthritis (OR 2.01) and diabetes mellitus (OR 1.53), compared to those with no p.C282Y mutations.

Homozygous status was associated with substantial incident morbidity, with 15.7% of homozygous men and 10% of women developing at least one incident associated condition such as liver disease, diabetes, osteoarthritis or rheumatoid arthritis versus 5% and 3.4% of those with no HFE C282Y mutations.

Writing in the BMJ, the researchers said their findings showed much higher rates of haemochromatosis than had been seen in previous studies which had been smaller and with little long term follow up and which may not have had the power to detect the disease and its related morbidities.

Since haemochromatosis eventually develops in large proportions of people who are homozygotes for the HFE C282Y gene, there may be a benefit from screening and early intervention to prevent the effects of haemochromatosis in older age, they suggested.

“It seems likely that intervention before the development of pathologies in p.C282Y homozygotes in the community could prevent a substantial burden of excess morbidity.

“Phlebotomy and other iron reducing interventions are effective at improving clinical outcomes in individuals with high iron levels, especially when started before development of the related pathologies: after pathologies are established, effectiveness is limited, especially for arthrosis,” they added.

“It is clear that routine testing is needed if patients are to be identified early enough, and it is exciting to think that such a large amount of disease could be avoided by such a simple treatment,” they commented.

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