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Unit Code 84161:
Red Blood Cell (RBC) Enzyme Evaluation

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Useful For

Identifying defects of red cell enzyme metabolism

 

Evaluating patients with hemolytic anemia

Clinical Information

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 red blood cell

enzyme defects (e.g., 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 (e.g., 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.

Reference Values

Definitive results and an interpretive report will be provided.

Interpretation

A hematopathologist expert in these disorders evaluates the case,

appropriate tests are performed, and an interpretive report is issued.

Cautions

No significant cautionary statements

Clinical Reference

Beutler E: Glucose-6-phosphate dehydrogenase deficiency and

other enzyme abnormalities. In Hematology. 5th edition. Edited by

E Beutler, MA Lichtmann, BS Coller, TJ Kipps. New York,

McGraw-Hill Book Compnay, 1995, pp 564-581

Key