Hereditary Spherocytosis as an Atypical Presentation of Anemia in Ulcerative Colitis

Abstract

Anemia is encountered in up to two-thirds of all patients with inflammatory bowel disease (IBD). We are reporting a case of a 9-year-old female with history of very early onset IBD ulcerative colitis, and primary sclerosing cholangitis who was found to have hereditary spherocytosis as the etiology of her anemia. Despite good clinical response to IBD therapy, she continued to have persistent normocytic anemia. Liver biopsy and magnetic resonance cholangiopancreatography for uptrending liver transaminases demonstrated iron deposition which led to a T2-weighted magnetic resonance imaging study that quantified significant iron deposition in her liver and kidneys. Without any history of blood transfusions, these findings were concerning for hereditary hemochromatosis, but the hereditary hemochromatosis gene test was negative. Whole genome sequencing identified a pathogenic de novo variant consistent with hereditary spherocytosis. Table of Contents Summary: A novel presentation of anemia in inflammatory bowel disease