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: | , , , |
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| Format: | Book |
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SAGE Publishing,
2023-06-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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 demonstrated persistent anemia despite daily folate prompting next-generation sequencing which revealed a novel mutation in the SPTB gene resulting in a nonfunctioning protein product. Correlation of the genetic finding with clinical presentation may help guide management for this and future patients. |
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| Item Description: | 2324-7096 10.1177/23247096231180552 |