G6PDH

Enzymatic | UV

Product description:

G6PDH deficiency is the most common metabolic disorder of red cells, affecting over 400 million people worldwide where Plasmodium falciparum malaria is or has been endemic.The deficiency of this enzyme occurs due to a wide variety of mutations in the G6PD gene located on X chromosome (Xq28). Over 400 mutations of G6PD gene have been defined.

The G6PD deficiency increases Hb vulnerability to oxidative damage, leading to Hb instability and precipitation as Heinz bodies.The majority of G6PD-deficient individuals develop haemolysis only when oxidative stress occurs, as with infections and after ingestion of certain drugs or fava beans. Outside these periods, they are usually asymptomatic.The clinical features vary according to the severity of the loss of enzyme activity. Enzyme levels of > 60% of normal are generally not associated with hemolysis. Lower levels cause varying degrees of intermittent hemolysis and if G6PD is virtually absent there may be persistent hemolysis. The clinically important consequences of G6PD deficiency are neonatal jaundice and acute and, less commonly, chronic hemolysis.