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 the truncation of β-haemoglobin in the erythrocyte membrane can lead to loss of normal function, leading to the occurrence of diseases, including jaundice and hemolytic anemia. For neonates with jaundice and anemia, family history, erythrocyte index and peripheral blood smear findings have been indicated to contribute to the diagnosis of HS. In the current study, gene sequencing was indicated to be helpful for the diagnosis of HS. A novel mutation of SPTB gene was identified, which may be pathogenic via modulating the activity of β-spectrin in the erythrocyte membrane.