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Hereditary Elliptocytosis Identified During the Evaluation of Splenomegaly: A Case Report
Bonaventure Oguaju1, Marlene Hamilton2, Lindsay Bridgland1
1General Internal Medicine, University of Alberta, Edmonton, CAN.
Abstract:
Hereditary elliptocytosis (HE) is a red blood cell (RBC) membrane disorder resulting from a mutation in RBC membrane proteins that predispose the cell to hemolysis. Clinical presentation can range from patients being asymptomatic to hemolysis with splenomegaly and anemia. In this report, we present the case of a 40-year-old female with a history of intermittent normocytic normochromic anemia and chronic left upper abdominal pain with mild splenomegaly. During workup for splenomegaly, she was found to have elliptocytes on her blood smear, leading to a clinical diagnosis of HE. For individuals diagnosed with asymptomatic HE, the management focus should be on counseling about the condition, including education on the complications associated with HE.