Targeted next-generation sequencing identified a novel mutation associated with hereditary spherocytosis in a Chinese family.

: Hereditary spherocytosis (HS) represents a group of congenital diseases characterized by sphere-shaped erythrocytes on peripheral blood smears. The typical clinical manifestations of HS include haemolysis, jaundice, splenomegaly, and gallstones. Ankyrin1, encoded by the gene, is the predominant protein in red blood cells. Defects in ankyrin1 lead to a decrease in erythrocyte surface area, a spherical shape of erythrocytes and, in particular, loss of membrane elasticity and mechanical stability. The purpose of this study was to investigate a Chinese family with HS to determine the causative gene mutation and explore the genotype-phenotype correlation. : A 4-year-old boy was diagnosed with HS based on typical clinical features. In addition, his father had a high possibility of HS. Targeted next-generation sequencing (NGS) followed by Sanger sequencing was performed in the proband and his parents. : One mutation in the gene was recognized. c1801-1G > C in exon 17, which leads to splicing defects, was detected. To confirm the c1801-1G > C variant, samples from the proband and his parents were analysed by Sanger sequencing, and Sanger verification showed that this mutation was inherited from the father. : The present study confirmed that a novel mutation in may be causative of HS, which plays an important role in expanding the mutational spectrum of ANK1 mutations. This may contribute to accurate genetic counselling. And it is helpful for understanding the correlation of the genotype and phenotype.