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Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in SPTB Gene
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  • Daphna Varadi,
  • Benjamin Caplan,
  • Maria Scarano,
  • Rafat Ahmed
Daphna Varadi
Rowan University Cooper Medical School

Corresponding Author:[email protected]

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Benjamin Caplan
Rowan University Cooper Medical School
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Maria Scarano
Cooper University Health Care
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Rafat Ahmed
Cooper University Health Care
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Abstract

This case report describes a novel mutation of the SPTB gene as a potential pathogenic cause of spherocytosis. A three-week-old male presented with clinical and laboratory signs consistent with hemolytic spherocytosis (HS), including jaundice, hyperbilirubinemia, anemia, reticulocytosis, negative Coombs test, no ABO or Rh incompatibility, and a peripheral blood smear notable for numerous spherocytes. His lab work demonstrated persistent anemia despite daily folate prompting next-generation sequencing (NGS) which revealed a novel mutation in the SPTB gene resulting in a non-functioning protein product. Correlation of the genetic finding with clinical presentation may help guide management for this and future patients.