A CASE REPORT OF PEDIATRIC HEREDITARY SPHEROCYTOSIS: MANAGEMENT OF HEMOLYTIC DISEASE AND CHOLELITHIASIS
DOI:
https://doi.org/10.53582/he4a6g54Keywords:
hereditary spherocytosis, childrenAbstract
Introduction: Hereditary spherocytosis (HS) is a congenital hemolytic anemia caused by defects in erythrocyte membrane proteins, most commonly inherited in an autosomal dominant pattern. Clinical severity ranges from mild hemolysis to severe anemia with complications such as splenomegaly and pigment gallstones.
Case report: We report the case of a 10-year-old boy presenting with acute abdominal pain, jaundice, and dark urine. Physical examination revealed scleral icterus and splenomegaly. Laboratory investigations showed anemia (hemoglobin 7.9 g/dL), elevated mean corpuscular hemoglobin concentration (35.3 g/dL), reticulocytosis (9%), and indirect hyperbilirubinemia. Peripheral blood smear demonstrated numerous spherocytes. Abdominal ultrasonography confirmed splenomegaly and multiple gallstones. The patient had a history of recurrent hemolytic crises and a positive family history of HS. Based on clinical and laboratory findings, the diagnosis was established without further confirmatory testing. After appropriate vaccination, he underwent elective splenectomy with cholecystectomy. Postoperatively, clinical parameters improved significantly; however, moderate reactive thrombocytosis was observed. The patient remained asymptomatic during a 12-month follow-up period.
Conclusion: This case highlights the classic presentation and effective management of hereditary spherocytosis in a pediatric patient. Splenectomy combined with cholecystectomy resulted in significant clinical improvement and prevention of further hemolytic episodes.
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Copyright (c) 2026 Aleksandra Jovanovska, Bojan Teov, Valentina Cvejoska-Cholakovska, Sonja Bojadzieva, Svetlana Kocheva
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