A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family

Int J Lab Hematol. 2021 Dec;43(6):e294-e297. doi: 10.1111/ijlh.13575. Epub 2021 May 11.
No abstract available

Keywords: hemolytic anemia; hereditary spherocytosis.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Asian People / genetics
  • China
  • Female
  • Frameshift Mutation
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Middle Aged
  • Pedigree
  • Spectrin / genetics*
  • Spherocytosis, Hereditary / genetics*
  • Young Adult

Substances

  • SPTB protein, human
  • Spectrin