Abstract
We measured the red cell enzyme activities in 556 cases with hematologic disorders, most with hemolytic anemia, during the past 9 years. About half of them were from patients for whom a hematologic diagnosis had already been considered to be established or could readily be established from the data submitted with the sample. Of the 254 samples which were previously undiagnosed cases with congenital nonspherocytic hemolytic anemia, a diagnosis of erythroenzymopathy was established in 88 cases, and 10 cases were diagnosed as unstable hemoglobin. Many other patients (156 cases) had no red cell enzyme defect or unstable hemoglobin.
Although some of the samples in which we were unable to detect an enzyme deficiency or unstable hemoglobin seem to be due to our erroneous diagnosis, there may be the existence of the unknown metabolic pathway which is important to maintain the red cell function.
Pyruvate kinase deficiency and G6PD deficiency were the commonest erythroenzy-mopathies in Japan. The incidence of pyrimidine 5'-nucleotidase deficiency was thought to be high.
