A case of acute granulocytic leukemia with pyruvate kinase deficiency of erythrocyte and bone marrow chromosome aberration was reported.
The patient, 49-year-old man, was admitted to our hospital in September, 1973 for precise examination of severe anemia. On physical examination icterus and hepatosplenomegaly were noted. Blood examination showed hemoglobin 7.4g/dl, RBC 225×10⁴/mm³, Ht 23.8%, MCV 103 μ³, MCHC 31.7%, reticulocytes 28‰, 86 erythroblasts per 100 leucocytes in the peripheral blood, WBC 2,100 with 31% Auer body positive blast cells, platelets 9.0×10⁴/mm³, indirect bilirubin 1.24gm/dl, serum iron 195 γ%, Vitamin B₁₂ 425 pg/ml. A bone marrow examination revealed erythroid hyperplasia with macrocytosis and 29% blast cells contained Auer rods in the cytoplasm. Hemolysis test including haptoglobin determination were within normal limits.
On Nov. 1974, when he was readmitted due to remarkable anemia with reticulocytosis and high percentage myeloblasts in the peripheral blood, pyruvate kinase deficiency of red blood cells and bone marrow chromosome aberration (centromeric spreading) were found. This enzymatic deficiency was considered not to be hereditary in nature and chromosome aberration was also different from that encountered usually with leukemia or erythroleukemia. His clinical course was rather mild without any anti-leukemic drugs and no aggressive increase of leukemic cells in the bone marrow and peripheral blood was observed until 3 months before his death.