A novel SPTB gene mutation in neonatal hereditary spherocytosis: A case report.

ABSTRACT: The aim of the present study was to enhance the understanding of the diagnosis and treatment of neonatal hereditary spherocytosis (HS). Gene sequencing and analysis was performed for the crucial splicing signals on the exons and introns of the 302 known pathogenic genes [including ANK1, SPTAN1, SPTA1, EPB42, SLC4A1, and SPTB] that are associated with this genetic deficiency of erythrocytes. A 26-day-old female presented with jaundice, anemia, an increased count in peripheral blood reticulocyte and spherocytes and a positive acidified glycerol hemolysis test. Gene sequencing revealed a novel mutation of c.3737delA (p.Lys1246fs) in the exon 16 of SPTB (14q23|NM_000347.5) gene in the patient and her father. The mutation was a frame-shifting mutation, which may result in t

SUBMITTER: Liu Y 

PROVIDER: S-EPMC7444424 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature