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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2023-06-01
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| Series: | Journal of Investigative Medicine High Impact Case Reports |
| Online Access: | https://doi.org/10.1177/23247096231180552 |