New Delhi, June 10
Researchers have found a genetic mutation that can worsen iron deficiency and anaemia in patients with Crohn's disease.

Crohn's disease is a chronic inflammatory bowel disease (IBD) that can affect the small intestine and the large intestine.

While it is characterised by chronic inflammation, leading to symptoms like abdominal pain, diarrhoea, fatigue, and weight loss, it can also cause anaemia.

Iron-deficient anaemia is most common among Crohn's patients and leads to chronic fatigue, reducing the quality of life, particularly during disease flare-ups.

Biomedical scientists at the University of California, Riverside School of Medicine found that mutation in the gene PTPN2 (protein tyrosine phosphatase non-receptor type 2) -- found in 14-16 per cent of the general population and 19-20 per cent of the IBD population -- is responsible for this.

The study, performed on serum samples from IBD patients, reports that patients carrying a loss-of-function mutation in the PTPN2 gene exhibit significant disruption in blood proteins that regulate iron levels.

A loss-of-function mutation is a genetic change that reduces or eliminates the normal function of a gene or its product, a protein.

"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.

"Our findings offer an explanation for why some IBD patients remain iron-deficient despite oral supplementation," McCole said.

When the researchers deleted the PTPN2 gene in mice, the animals developed anaemia and were unable to absorb iron effectively.

The findings, published in the International Journal of Molecular Sciences, showed it was due to reduced levels of a key iron-absorbing protein located in the intestinal epithelial cells -- the cells responsible for taking up dietary nutrients.

Study finds gene mutation causing iron deficiency in Crohn's disease patients