Hereditary red blood cell membrane defects. Detection of PIEZO1 mutations associated with SPTA1 mutations. An unusual clinical case of hereditary xerocytosis

Pediatr Hematol Oncol. 2021 Mar;38(2):184-190. doi: 10.1080/08880018.2020.1829219. Epub 2020 Nov 2.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anemia, Hemolytic, Congenital / blood*
  • Cell Membrane / pathology*
  • Child, Preschool
  • Erythrocytes / pathology*
  • Humans
  • Hydrops Fetalis / blood*
  • Male
  • Mutation
  • Spherocytosis, Hereditary / genetics*

Supplementary concepts

  • Xerocytosis, hereditary