Abstract / Summary
Hereditary spherocytosis (HS) is an inherited erythrocyte membrane disorder with a variable clinical presentation during the neonatal period.Early unconjugated hyperbilirubinemia may be the first manifestation, whereas clinically significant anemia may develop later.A positive family history may therefore provide an important diagnostic clue.We report a term female neonate born at 38 weeks' gestation to a mother with HS who had previously undergone splenectomy.Unconjugated hyperbilirubinemia developed on day 2 of life, with a total serum bilirubin level of 198.7 mg/L (339.6 µmol/L) and a negative direct antiglobulin test.Phototherapy was initiated; however, progressive hemolytic anemia subsequently developed, with hemoglobin decreasing from 16.0 g/dL on day 2 to 6.3 g/dL on day 30, accompanied by reticulocytosis (110 × 10⁹/L) and an elevated mean corpuscular hemoglobin concentration (36.8 g/dL).The eosin-5′-maleimide binding test demonstrated a 34.8% reduction in fluorescence, supporting the diagnosis of HS.Packed red blood cell transfusion corrected the severe anemia, with subsequent clinical improvement.This case highlights that neonatal HS may present with significant early hyperbilirubinemia followed by rapidly progressive severe anemia.In neonates with a family history of HS, early recognition and serial monitoring of bilirubin and hemoglobin levels are essential to guide timely management and reduce the risk of complications.