Hereditary red cell defects as an underrecognized cause of neonatal jaundice

Neonatal jaundice is most commonly caused by blood group incompatibility but may also result from hereditary elliptocytosis (HE) associated with heterozygous SPTB mutations.

A retrospective descriptive study was conducted among 1,584 neonates presenting with jaundice over a 3-year period.

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.

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.