This case report describes a novel mutation of the SPTB gene as a
potential pathogenic cause of spherocytosis. A three-week-old male
presented with clinical and laboratory signs consistent with hemolytic
spherocytosis (HS), including jaundice, hyperbilirubinemia, anemia,
reticulocytosis, negative Coombs test, no ABO or Rh incompatibility, and
a peripheral blood smear notable for numerous spherocytes. His lab work
demonstrated persistent anemia despite daily folate prompting
next-generation sequencing (NGS) which revealed a novel mutation in the
SPTB gene resulting in a non-functioning protein product.
Correlation of the genetic finding with clinical presentation may help
guide management for this and future patients.
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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