Hereditary xerocytosis and familial haemolysis due to mutation in the PIEZO1 gene: a simple diagnostic approach

Int J Lab Hematol. 2014 Aug;36(4):e62-5. doi: 10.1111/ijlh.12172. Epub 2013 Dec 6.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Anemia, Hemolytic, Congenital / diagnosis*
  • Anemia, Hemolytic, Congenital / genetics*
  • Anemia, Hemolytic, Congenital / metabolism
  • Anemia, Hemolytic, Congenital / pathology
  • Base Sequence
  • Cations, Monovalent
  • Erythrocytes / metabolism*
  • Erythrocytes / pathology
  • Female
  • Hemolysis / genetics*
  • Humans
  • Hydrops Fetalis / diagnosis*
  • Hydrops Fetalis / genetics*
  • Hydrops Fetalis / metabolism
  • Hydrops Fetalis / pathology
  • Ion Channels / genetics*
  • Ion Channels / metabolism
  • Ion Transport
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Potassium / metabolism
  • Sodium / metabolism

Substances

  • Cations, Monovalent
  • Ion Channels
  • PIEZO1 protein, human
  • Sodium
  • Potassium

Supplementary concepts

  • Xerocytosis, hereditary