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Background <p>Neonatal jaundice is most commonly caused by blood group incompatibility but may also result from hereditary elliptocytosis (HE) associated with heterozygous <i>SPTB</i> mutations.</p> Methods <p>A retrospective descriptive study was conducted among 1,584 neonates presenting with jaundice over a 3-year period.</p> Results <p>Seventy-six neonates (4.8%) were diagnosed with HE, all carrying heterozygous <i>SPTB</i> mutations (Providence variant, <i>n</i> = 67; Buffalo variant, <i>n</i> = 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.</p> Conclusion <p>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.</p>

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Hereditary red cell defects as an underrecognized cause of neonatal jaundice

  • 期刊论文

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  • 发表日期：

    2026年3月16日

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  • Patcharee Komvilaisak,
  • Khunton Wichajarn,
  • Napat Laoaroon,
  • Pongsatorn Paopongsawan,
  • Junya Jirapradittha,
  • Pakaphan Kiatchoosakun,
  • Kunanya Suwannaying,
  • Nopporn Sawatjui,
  • Ratana Komwilaisak,
  • Rujanan Kachenchat

摘要

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.