Crohn’s Disease & Iron Deficiency: Genetic Link Found
- A genetic mutation common in Crohn's disease patients can worsen iron deficiency and anemia, according to a new study from the university of California, Riverside School of Medicine.
- IBD,encompassing Crohn's disease and ulcerative colitis,primarily affects the intestines but can trigger issues beyond the gut.
- the study, analyzing serum samples from IBD patients, found that those with a loss-of-function mutation in the PTPN2 gene showed significant disruption in blood proteins that manage iron...
New research reveals a notable link between a genetic mutation and Crohn’s disease, worsening iron deficiency and anemia.Scientists at the University of California,Riverside,discovered a mutation in the PTPN2 gene,which affects iron regulation,impacting the health of those with inflammatory bowel disease (IBD). This finding could alter treatment,suggesting potential shifts from oral iron supplements to intravenous options for specific patients suffering from loss-of-function variants of the mutation. News Directory 3 is following this development closely, as it highlights the complexities of IBD and the need for targeted therapies beyond controlling inflammation. Discover what’s next for IBD treatments.
Genetic Mutation Linked to Iron Deficiency in Crohn’s Disease
Updated June 8, 2025
A genetic mutation common in Crohn’s disease patients can worsen iron deficiency and anemia, according to a new study from the university of California, Riverside School of Medicine. The research highlights how this mutation disrupts iron regulation in the blood, exacerbating complications of inflammatory bowel disease (IBD).
IBD,encompassing Crohn’s disease and ulcerative colitis,primarily affects the intestines but can trigger issues beyond the gut. Iron deficient anemia is a prevalent complication, leading to chronic fatigue and diminished quality of life, especially during flare-ups.
the study, analyzing serum samples from IBD patients, found that those with a loss-of-function mutation in the PTPN2 gene showed significant disruption in blood proteins that manage iron levels. This mutation appears in 14% to 16% of the general population and 19% to 20% of IBD patients. A loss-of-function mutation reduces or eliminates a gene’s normal function.
deleting the PTPN2 gene in mice led to anemia and impaired iron absorption, the researchers discovered. This was attributed to reduced levels of a key iron-absorbing protein in intestinal epithelial cells, which are responsible for absorbing dietary nutrients.
“This finding sheds light on a critical mechanism that links a patient’s genetics to thier ability to absorb and regulate iron, which is essential for maintaining healthy blood and energy levels,” saeid Declan McCole, a professor of biomedical sciences at UCR and lead author of the study. “Our findings offer an explanation for why some IBD patients remain iron-deficient despite oral supplementation.”
“The only way the body can obtain iron is through intestinal absorption from food, making this discovery especially significant,” said hillmin Lei, a doctoral student in McCole’s lab and first author of the study. “Disruption of this pathway by genetic variants like those in PTPN2 could help explain why some IBD patients fail to respond to oral iron therapy, a commonly prescribed treatment for anemia.”
McCole emphasized the study’s importance in understanding how genetic risk factors for IBD can worsen patient symptoms by interfering with nutrient absorption and highlights the need for targeted therapies for IBD patients.
What’s next
McCole suggests prioritizing intravenous iron supplementation over oral iron for anemic patients with loss-of-function PTPN2 variants, as oral iron might potentially be poorly absorbed. The research opens doors for therapies addressing systemic complications like anemia, beyond just inflammation control in IBD.