The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing

Hereditary spherocytosis (HS) with hemolysis, splenomegaly, and jaundice as the main clinical symptoms varied in different population and SPTB mutated rate is common except for ANK1 in the Chinese population, whereas only a few studies have been reported. Here, 11 Chinese pediatric patients with newly SPTB mutations detected by targeted next generation sequencing technology were included and analyzed in our study. The characteristics of mutation separation were verified among family members by bidirectional Sanger sequencing. The detected 11 mutations were novel, all of which were heterozygotes, including five de novo mutations, five maternal mutations, and one paternal mutation. Meanwhile, the 11 different novel mutation sites distributed on and near the seven exons included four pathogenic sites and seven likely pathogenic sites. The detection of 11 novel mutation sites gene expanded the mutant spectrum of the SPTB gene, and provided corresponding clinical data, which laid a foundation for the subsequent studies on HS in Chinese population, especially in pediatric patients.