New gene mutation linked to iron deficiency, IBD

Biomedical scientists have discovered that a genetic mutation associated with Crohn’s disease can worsen iron deficiency and anemia — one of the most common complications experienced by patients with inflammatory bowel disease, or IBD.

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The study led by scientists at the University of California, Riverside School of Medicine in the US — performed on serum samples from IBD patients — reported that patients carrying a loss-of-function mutation in the gene PTPN2 (protein tyrosine phosphatase non-receptor type 2) exhibit significant disruption in blood proteins that regulate iron levels.

This mutation is found in 14-16 per cent of the general population and 19-20 per cent of the IBD population. A loss-of-function mutation is a genetic change that reduces or eliminates the normal function of a gene or its product, a protein.