Severe Neonatal Hereditary Spherocytosis Presenting With Hyperbilirubinemia and Profound Anemia: A Case Report
- 1Department of Neonatology and Neonatal Intensive Care, Hassan II University Hospital, Faculty of Medicine and Pharmacy, Sidi Mohamed Ben Abdellah University, Fez, MAR
Abstract
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.
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BibTeX
@article{mbarki2026severe,
title = {{Severe Neonatal Hereditary Spherocytosis Presenting With Hyperbilirubinemia and Profound Anemia: A Case Report}},
author = {Fatima Mbarki and Safae Rahmouni and Driss Oukachou and Skalli Khadija and Fouzia Hmami},
journal = {Cureus},
year = {2026},
month = oct,
doi = {10.7759/cureus.117743},
url = {https://doi.org/10.7759/cureus.117743},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Severe Neonatal Hereditary Spherocytosis Presenting With Hyperbilirubinemia and Profound Anemia: A Case Report
AU - Fatima Mbarki
AU - Safae Rahmouni
AU - Driss Oukachou
AU - Skalli Khadija
AU - Fouzia Hmami
PY - 2026
DA - 2026/10/10
JO - Cureus
DO - 10.7759/cureus.117743
UR - https://doi.org/10.7759/cureus.117743
AB - 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.
SN - 2168-8184
ER -