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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 01-06-2009
Symbol PKLR
Location 1q22
Name pyruvate kinase deficiency of red cells
Other name(s)
  • pyruvate kinase deficiency of erythrocyte
  • PK deficiency
  • Corresponding gene PKLR
    Main clinical features
  • hemolytic anemia, non spherocytic, chronic, mild to severe forms
  • severity of haemolysis is highly variable, ranging from very mild or fully compensated forms to life-threatening neonatal anaemia necessitating exchange transfusions (Zanella 2007)
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Gene product
    Name pyruvate kinase, liver and RBC (PKLR)