New England Journal of Medicine · 1965 · 194 citations · 5 references
MedicineGeneticsHematologyHematopathologyHuman GeneticsIron Metabolism DisordersAnemiaCoagulation AbnormalitiesEnzyme DeficienciesHematologic DisordersHemolytic DisordersRed Blood Cell DisordersTriosephosphate Isomerase Deficiency
THE demonstration of the association of inherited deficiencies of erythrocyte enzymes with certain congenital hemolytic anemias has aided a greater understanding of the genetic and pathological manifestations of these disorders, and has resulted in a more definitive classification of these heterogeneous conditions. In 1954 Selwyn and Dacie1 separated the congenital nonspherocytic hemolytic anemias into two classes, Types 1 and 2, on the basis of differences in the spontaneous autohemolysis of sterile defibrinated blood. Valentine, Tanaka and Miwa,2 , 3 in 1961, described the occurrence of a marked deficiency of erythrocyte pyruvate kinase in association with hemolytic disease classifiable as Type 2 on . . .
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Pyruvate Kinase (PK) Deficiency Hereditary Nonspherocytic Hemolytic Anemia
Kouichi R. Tanaka, William N. Valentine, Shiro Miwa · Blood · 1962 · 269 citations · Full text
Medicine, Genetics, Hematology +13