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GENATLAS PHENOTYPE

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)

Remark(s)