Interpretation of results for the red blood cell enzyme evaluation
Identifying defects of red cell enzyme metabolism
Evaluating patients with Coombs-negative hemolytic anemia
Only orderable as part of a profile. For more information see EEEV1 / Red Blood Cell (RBC) Enzyme Evaluation, Blood.
Medical Interpretation
RBC Enzyme Study
Red Cell Enzymes
Whole Blood ACD-B
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole Blood ACD-B | Refrigerated | 11 days |
Interpretation of results for the red blood cell enzyme evaluation
Identifying defects of red cell enzyme metabolism
Evaluating patients with Coombs-negative hemolytic anemia
Erythrocyte enzyme deficiencies are inherited causes of hemolytic anemia. Some are very common, such as glucose 6-phosphate dehydrogenase (G6PD) deficiency, and others are very rare, found in only a few families around the world. Most are autosomal in inheritance, but some are sex-linked and located on the X chromosome. Most enzyme deficiencies result in chronic nonspherocytic hemolytic anemia of variable severity; however, some, such as G6PD, can be hematologically normal with episodic acute hemolysis due to a trigger event such as medications, toxins, or some foods. The red blood cell (RBC) enzymopathies do not typically show recurrent pathognomonic changes on the peripheral blood smear other than generic features of hemolytic anemia, although some such as pyruvate kinase deficiency can have echinocytes and pyrimidine 5' nucleotidase (P5NT) deficiency is associated with basophilic stippling. RBC enzyme activity levels are best evaluated as a panel as reticulocytosis can mask some deficient states and comparison to the background enzyme activity is useful.
This is a consultative evaluation of red cell enzyme activity as a potential cause of early red cell destruction.
Only orderable as part of a profile. For more information see EEEV1 / Red Blood Cell (RBC) Enzyme Evaluation, Blood.
Definitive results and an interpretive report will be provided.
A hematopathologist expert in these disorders evaluates the case and an interpretive report is issued.
Recent transfusion may mask the patient's intrinsic enzyme activity and cause unreliable results.
A very high white blood cell count can contribute to interference and falsely raise the activity for some enzymes.
Some enzyme deficiency disorders can be masked by reticulocytosis and comparison of activities of other red blood cell enzyme activities in this panel can be useful.
1. Koralkova P, van Solinge WW, van Wijk R. Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis. Int J Lab Hematol. 2014;36(3):388-397
2. Beutler E. Glucose-6-phosphate dehydrogenase deficiency and other enzyme abnormalities. In: Beutler E, Lichtmann MA, Coller BS, Kipps TJ, eds. Hematology. 5th ed. McGraw-Hill Book Company; 1995:564-581
A hematopathologist who is an expert in these disorders evaluates the case and an interpretive report is issued.
Monday through Friday
Not Applicable
Test Id | Test Order Name | Order LOINC Value |
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EEEVI | Erythrocyte Enzyme Interpretation | 59466-3 |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
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608087 | Erythrocyte Enzyme Interpretation | 59466-3 |
608109 | Reviewed By | 18771-6 |