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Article

Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in SPTB Gene: Case Report.

Journal of investigative medicine high impact case reports - 1 Jan 2000

Varadi Daphna, Caplan Benjamin, Scarano Maria, Ahmed Rafat

Abstract excerpt

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...

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Identifiers

PMID: 37306287
DOI: 10.1177/23247096231180552
PMCID: PMC10272686

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Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in SPTB Gene: Case Report.PMID 37306287Read ↗

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