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All enzyme defects, including erythrocyte enzyme errors, are inherited; some are sex-linked and located on the X chromosome. Some family members have no hematologic abnormalities, while others have a hemolytic anemia. For a number of RBC enzyme defects (eg, deficiencies of hexokinase, glucose phosphate isomerase, pyruvate kinase), the sole clinical manifestation is hemolytic anemia. Glucose-6-phosphate dehydrogenase deficiency is the most common metabolic error of the red cell and presents with acute hemolytic anemia in response to oxidant stress (eg, drugs, acute infections, fava bean ingestion).
This is a consultative evaluation looking at red cell enzyme defects as the cause for early red cell destruction.
Identifying defects of red cell enzyme metabolism
Evaluating patients with hemolytic anemia
A hematopathologist expert in these disorders evaluates the case, appropriate tests are performed, and an interpretive report is issued.
No significant cautionary statements
Definitive results and an interpretive report will be provided.
Beutler E: Glucose-6-phosphate dehydrogenase deficiency and other enzyme abnormalities. In Hematology. Fifth edition. Edited by E Beutler, MA Lichtmann, BS Coller, TJ Kipps. New York, McGraw-Hill Book Company, 1995, pp 564-581