Coexistence of Hereditary Spherocytosis and Hyperreactive Malarial Splenomegaly in a Child From a Malaria-Endemic Region: A Case Report in Uganda

Abstract Background: Hereditary spherocytosis (HS) is a congenital hemolytic anemia caused by red blood cell membrane defects, while hyperreactive malarial splenomegaly (HMS) is an immune-mediated condition resulting from chronic malaria exposure in endemic regions. Both conditions present with anemia and splenomegaly, posing significant diagnostic challenges, particularly in low-resource settings where splenomegaly is often attributed to malaria alone. Case Presentation: We report a 7-year-old female from western Uganda who presented with a 4-year history of progressive abdominal distension and a 5-day history of fever and abdominal pain. Clinical examination revealed massive splenomegaly, pallor, mild jaundice, and generalized lymphadenopathy. Laboratory findings showed severe anemia (hemoglobin 5.1 g/dL), elevated red cell distribution width, and peripheral blood smear demonstrating spherocytes. Malaria rapid diagnostic test was initially positive. Despite appropriate antimalarial therapy, the patient had persistent severe anemia and progressive splenomegaly requiring multiple blood transfusions. A positive family history of similar illness, together with hematological findings, supported a diagnosis of hereditary spherocytosis, while the presence of massive splenomegaly in a malaria-endemic region suggested concurrent HMS. The patient later underwent splenectomy with good clinical and hematological improvement. Conclusion: This case highlights the importance of considering underlying hematological disorders in children presenting with massive splenomegaly in malaria-endemic regions. Early recognition of dual pathology is essential to prevent misdiagnosis, guide appropriate management, and improve outcomes.