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. 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.

While IBD primarily affects the intestines, it can have effects beyond the gut. Iron deficient anemia is the most prevalent of these effects, contributing to chronic fatigue and reduced quality of life, particularly during disease flare-ups, said the study published in the International Journal of Molecular Sciences. “This discovery sheds light on a critical mechanism that links a patient’s genetics to their ability to absorb and regulate iron, which is essential for maintaining healthy blood and energy levels,” said Declan McCole, a professor of biomedical sciences at UCR who led the study.