title: Atypical intraerythrocytic pyruvate kinase in some haematological diseases.
abstract: An atypical pyruvate kinase (PK) in erythrocytes was studied in a family with several different haematological diseases: non-spherocytic haemolysis, thrombocytopenia, myelofibrosis and polycythaemic traits. Atypical intraerythrocytic PK was also found in a group of non-related patients with myelofibrosis and polycythaemia vera. The atypical PK was characterised by abnormal urea inhibition and other relevant biochemical parameters.
mesh_terms: D000368:Aged; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006461:Hemolysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011086:Polycythemia / Q000201:enzymology / Q000235:genetics; D011087:Polycythemia Vera / Q000201:enzymology; D055728:Primary Myelofibrosis / Q000201:enzymology / Q000235:genetics; D011770:Pyruvate Kinase / Q000097:blood*; D013921:Thrombocytopenia / Q000201:enzymology / Q000235:genetics; D014508:Urea / Q000097:blood
chemical_list: D014508:Urea; D011770:Pyruvate Kinase