Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disease with sex-linked inheritance, due to the presence of numerous mutations in the gene that encodes the G6PD enzyme.

The clinical manifestation of the enzyme deficiency is acute hemolytic anemia that develops as a result of ingestion of beans or drugs.

The mutations that determine the G6PD deficiency are very numerous and determine extremely variable enzymatic activities. Furthermore, the levels of G6PD are variable in heterozygous women according to the different degree of Lyonization of the X chromosome. This variability makes the traditional method for the diagnosis of G6PD deficiency very imprecise in women with a sensitivity of less than 50%.

The method based on the ratio between the enzymes G6PD and 6PGD allows a sensitivity greater than 99% in both sexes. The method is in fact independent of the variations due to the number of reticulocytes and / or leukocytes, from the individual variations of Hb and from the induction phenomena observed in microcitemic subjects.

The G6PD / 6PGD method is also easy to automate and has been validated on all clinical chemistry platforms.

The Principle of the Test

  • The G6PD enzyme is measured as the difference between the activity of the G6PD and 6PGD enzymes in order to subtract the residual activity of the 6PGD
  • The activity of the 6PGD enzyme is used as a reference for the G6PD. 6PGD is a reference that varies in parallel to G6PD in the presence of factors that increase its activity (reticulocytosis, leukocytosis, thalassemia traits, decreased mean erythrocyte life) and is not affected by the variability of Hb levels which eliminates these sources of error
  • A series of measures have been introduced to stabilize the enzyme and allow its measurement in whole blood even in the presence of leukocyte proteases
  • The method was automated on the main analytical systems to increase the analytical rate

Order information

G6PD deficiency diagnostic kit

Format 100ml

Code: G201

Format 50ml

Code: G202

Format 20ml

Code: G203

Controls

Standard control

Code: GK10L

Deficient control

Code: GK10LC