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Glucose 6-Phosphate Dehydrogenase (G6PD), Erythrocytes

Description

G6PD is the key regulatory enzyme of the pentose phosphate pathway and, as such, controls the flow of carbon through this pathway and produces reducing equivalents in the form of NADPH to meet cellular needs for reductive biosynthesis and maintenance of the cellular redox state. G6PD deficiency, one of the most common genetically inherited disorders, is an X-linked disease that manifests in the red blood cells. Oxidant stress, generated by compounds from dietary or pharmaceutical sources, has been demonstrated to cause hemolysis of erythrocytes in deficient individuals. The number of mutations that cause the disorder are numerous and the severity of the disease varies among different ethnic groups from mild in Africans to severe in Mediterraneans.

Indications

The test is used in the diagnosis of drug-induced* hemolytic anemia and favism, a clinical manifestation of G6PD deficiency closely related to drug-induced hemolysis is the hemolytic anemia induced by ingestion of the fava bean. Patients with favism are always G6PD deficient, but not all G6PD-deficient individuals develop hemolysis when they ingest fava beans. *These include: Acetanilid, Furazolidone, Methylene Blue, Nalidixic acid, Naphthalene, Niridazole, Isobutyl nitrite, Naphthalene, Nitrofurantoin,Primaquine, Phenazopyridine, Sulfacetamide, Sulfamethoxazole,Sulfanilamide, Sulfapyridine, Thiazolesulfone, Toluidine blue, Urate oxidase and Phenylhydrazine.

Sample Type, Quantity & Conditions

1 ml EDTA Whole Blood 1 ml Heparin or Citerated Whole Blood Stability: 7 Days at 2-8 °C

Special Precautions

Determine RBC count or Haemoglobin concentration prior to assay

Normal Range

7.9 - 16.3 U/g Hb

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