Coexistence of G6PD Deficiency in a Crohn’s Disease Patient: Case Report

Abstract

Mutations in the X-chromosome G6PD gene cause glucose-6-phosphate dehydrogenase (G6PD) deficiency. Crohn’s disease (CD) is an  inflammatory bowel disease that can cause inflammation and damage to the lining of the digestive tract. We report a 50-year-old male  with CD who was found to have an unrecognized variant of G6PD deficiency. Further investigation confirmed the presence of G6PD  enzymatic activity impairment, indicating the clinical relevance of this genetic alteration. This case report presents the G6PD variants  rs137852339, rs1050757, and rs2230037 in an individual from South India, highlighting the significance of early genetic screening in individuals experiencing persistent symptoms lasting for years. The present case underscores the importance of genetic screening in  patients with prolonged symptoms, aiming to prevent delayed diagnosis and enhance overall patient well-being through timely  interventions and personalized treatment approaches.