Il deficit di G6PD in Medicina di Laboratorio
G6PD deficiency in Laboratory Medicine

AUTORI

ABSTRACT

G6PD deficiency in Laboratory Medicine

Glucose 6-phosphate dehydrogenase has a key role in the production of the reducing power necessary to face oxidative stress and for providing ribose, which is a basic constituent of nucleic acids. It is therefore not surprising that the gene is present in all organisms, and that is also highly conserved during the evolution. The occurrence of G6PD mutants may have important consequences in carriers, depending on the class of the mutants, triggering events and various comorbidities. Acute and chronic hemolytic anemias are the most typical clinical hallmarks. The determination and characterization of G6PD can be achieved by qualitative tests, various quantitative catalytic activity determinations, and by molecular biology techniques. Sample collection and stability is not a critical problem, but some pre-analytical conditions in vivo(previous transfusions, recent blood losses) should be known by the laboratory before measuring G6PD. A number of quantitative methods is available and there is no consensus on the measuring temperature (30 or 37°C) and on the reference ranges. The consequence is that the state-of-the-art of the various methods is variable, as clearly proven from recent EQAS analyses. Moreover, analytical goals have not been defined yet. In conclusion, we believe that this test needs better attention from laboratory professionals in order to offer an improved service to patients with G6PD deficiency anemias and related complications.

BIBLIOGRAFIA