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...

Full description

Saved in:
Bibliographic Details
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.
Subjects:
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!