Journal of perinatology : official journal of the California Perinatal Association · 2026
Hereditary red cell defects as an underrecognized cause of neonatal jaundice.
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Komvilaisak Patcharee, Wichajarn Khunton, Laoaroon Napat, Paopongsawan Pongsatorn, Jirapradittha Junya, Kiatchoosakun Pakaphan, Suwannaying Kunanya, Sawatjui Nopporn, Komwilaisak Ratana, Kachenchat Rujanan
Аннотация
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.
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.