| Description And Clinical Indication: |
Genetic abnormalities in red blood cell enzymes can cause acute or chronic hemolytic anemia. Acute or episodic hemolysis occurs with infection or certain drugs. In most cases, this is due to glucose-6-phosphate dehydrogenase (G6PD) deficiency. G6PD deficiency is one of the most common genetic disorders affecting millions of individuals worldwide. The gene for G6PD deficiency is located on the X chromosome and most hemolytic episodes occur in males. Chronic hemolysis due to other enzyme disorders is rare compared to G6PD deficiency. The second most common cause is pyruvate kinase (PK) deficiency, and this disorder is thought to affect thousands worldwide. Much less common enzyme defects causing hemolysis are those due to other glycolytic enzymes, alterations in glutathione metabolism and abnormalities in purine or pyrimidine metabolism. Testing for red cell enzyme abnormalities is indicated in patients with hemolytic anemia not due to an immune process (direct antiglobulin test negative) and not due to a hemoglobin or RBC membrane abnormality.
RBC ENZYMES
- Glucose-6-Phosphate Dehydrogenase (G6PD) Quantitative
- Pyruvate Kinase (PK) Quantitative
- Glucose Phosphate Isomerase (GPI) Quantitative
- Hexokinase (HK) Quantitative
- Pyrimidine 5’ Nucleotidase (P5’N) Screen
- Reduced Glutathione (GSH) Concentration
- Adenosine Deaminase (ADA) Quantitative
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