Work

Hereditary red cell defects as an underrecognized cause of neonatal jaundice

Year: 2026

Type: article

Abstract: BACKGROUND: Neonatal jaundice is most commonly caused by blood group incompatibility but may also result from hereditary elliptocytosis (HE) associated with heterozygous SPTB mutations. METHODS: A retrospective descriptive study was conducted among 1,584 neonates presenting with jaundice over a 3-year period. RESULTS: Seventy-six neonates (4.8%) were diagnosed with HE, all carrying heterozygous SPTB mutations (Providence variant, n = 67; Buffalo variant, n = 9). Five had coexisting hemoglobinopathies. Early-onset jaundice occurred in 71 patients, with a median onset of 38 h. Peak total bilirubin levels ranged from 12.2 to 22.3 mg/dL. Most neonates required single phototherapy; seven required double phototherapy, and none underwent exchange transfusion. Anemia developed in 23 patients, of whom 17 required red cell transfusion. CONCLUSION: HE is an under-recognized cause of early-onset neonatal jaundice and anemia. Despite early hyperbilirubinemia, most neonates have a benign clinical course with minimal long-term complications and infrequent need for transfusion.

Source: Journal of Perinatology

DOI: 10.1038/s41372-026-02621-0