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

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...

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Main Authors: Daphna Varadi MD (Author), Benjamin Caplan MD (Author), Maria Scarano PhD (Author), Rafat Ahmed MD (Author)
Format: Book
Published: SAGE Publishing, 2023-06-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
Copy 1 Available