Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in SPTB Gene: Case Report.
J Investig Med High Impact Case Rep
; 11: 23247096231180552, 2023.
Article
em En
| MEDLINE
| ID: mdl-37306287
ABSTRACT
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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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Sequenciamento de Nucleotídeos em Larga Escala
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Hiperbilirrubinemia
Limite:
Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article