A Novel Mutation in Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis.

Hereditary spherocytosis (HS) is a congenital disorder of the red blood cell membrane and is characterized by hemolytic anemia, variable jaundice, and splenomegaly. In neonates, the diagnosis of HS can be difficult in the absence of family history. Herein, we describe clinical and molecular genetic findings in a Korean neonate with HS. A one-month-old girl presented with severe anemia and jaundice. Spherocytes were frequently observed on peripheral blood smear, but the erythrocyte osmotic fragility test result was normal. Targeted next-generation sequencing (NGS) revealed the patient was heterozygous for a novel frameshift mutation, c.191_194del (p.Leu64Argfs*7), in exon 3 of gene. Family study was performed by direct sequencing, and neither of her parents carried this mutation. The patient also harbored the *6 allele. To the best of our knowledge, this mutation identified by targeted NGS has not been reported previously.