Abstract
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.