Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis

Abstract Purpose Objective to summarize the clinical features and laboratory findings of 28 Chinese children with hereditary spherocytosis (HS), and analyze these mutations. Method Collected and analyzed the clinical data of all children and their parents, and completed the relevant laboratory examinations of all children. Analyzed the sequence of related genes by second‐generation sequencing technology, and verified the suspected mutations by Sanger sequencing method. Analyzed all biological information using the Single Nucleotide Polymorphism database, the 1000 Human Genome Project, and the Exosome Aggregation Consortium. Result New mutations were detected in the HS coding region of 28 children. Among them, there were 13 cases (46.4%) with ANK1 mutation, 10 cases (35.7%) with SPTB mutation, three cases (10.7%) with SLC4A1 mutation, and two cases (7.2%) with SPTA1 mutation. All mutations cause amino acid changes in the coding gene, as well as subsequent changes in protein structure or loss of function. Conclusion All the newly discovered gene coding region mutation sites detected are the suspected pathogenic causes of the 28 Chinese children. At the same time, the second‐generation gene sequencing technology is an effective means to diagnose HS. Different mutation types and different mutation regions have no significant correlation with the severity of anemia. The novel gene mutation sites in 28 children studied in this paper have not yet been included in the human genome database, dbSNP (v138), or ExAC database. The new gene mutations found in HS children can provide a theoretical basis for further exploring the genetic causes of HS in Chinese children.