1. Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in Gene: Case Report
- Author
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Daphna Varadi MD, Benjamin Caplan MD, Maria Scarano PhD, and Rafat Ahmed MD
- Subjects
Medicine (General) ,R5-920 ,Pathology ,RB1-214 - Abstract
This case report describes a novel mutation of the SPTB gene as a potential pathogenic cause of spherocytosis. A 3-week-old male presented with clinical and laboratory signs consistent with hemolytic spherocytosis, including jaundice, hyperbilirubinemia, anemia, reticulocytosis, negative Coombs test, no ABO or Rh incompatibility, and a peripheral blood smear notable for numerous spherocytes. His laboratory work demonstrated persistent anemia despite daily folate prompting next-generation sequencing which revealed a novel mutation in the SPTB gene resulting in a nonfunctioning protein product. Correlation of the genetic finding with clinical presentation may help guide management for this and future patients.
- Published
- 2023
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