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Interpretive Handbook

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Test 84161:
Red Blood Cell (RBC) Enzyme Evaluation

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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.

Useful For Suggests clinical disorders or settings where the test may be helpful

Identifying defects of red cell enzyme metabolism

 

Evaluating patients with hemolytic anemia

Interpretation Provides information to assist in interpretation of the test results

A hematopathologist expert in these disorders evaluates the case, appropriate tests are performed, and an interpretive report is issued.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

No significant cautionary statements

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Definitive results and an interpretive report will be provided.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

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