Diagnosis

The diagnosis of hemolytic anemia is usually not difficult, thanks to the triad of normomacrocytic anemia, reticu-locytosis and hyperbilirubinemia. Enzymopathies should be considered in the differential diagnosis of any chronic Coombs-negative hemolytic anemia. In most cases of gly-colytic enzymopathies, the morphological abnormalities of red cells characteristically seen in membrane disorders are conspicuous by their absence. A definitive diagnosis can be made only by demonstrating the deficiency of an individual enzyme by a quantitative assay. For the sake of economy, it is sensible to carry out these rather laborious tests in order of frequency of occurrence of the various enzymopathies [e.g. first pyruvate kinase (PK), then GPI, etc.; Table 12.7]. If a particular molecular abnormality is already known in the family, of course one could test directly for that at the DNA level, bypassing the need for enzyme assays.

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