Article

Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in SPTB Gene

2023-03-31

Abstract excerpt

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...

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Literature Corpus work: 96f32b97-f8c1-556a-9bd4-33c250049215
DOI: 10.22541/au.168026223.30044148/v1

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