Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked inherited disorder and it is the most common enzymatic defect in the world. G6PD is an enzyme involved in the genesis of NADPH which preserves the cells from oxidative stress. G6PD deficiency is usually asymptomatic but can become clinically apparent as haemolytic crisis triggered by the ingestion of oxidative agents (foods or drugs) or infections. Neonatal jaundice or chronic non-spherocytic haemolytic anaemia may be other manifestations of the disease. The most effective management of G6PD deficiency is to prevent haemolysis by avoiding oxidative stress; blood transfusions may be required in case of severe haemolysis. Screening programmes are helpful in identifying susceptible patients and so in preventing severe haemolytic crisis.
|Translated title of the contribution||Glucose-6-phosphate dehydrogenase deficiency|
|Number of pages||5|
|Journal||Medico e Bambino|
|Publication status||Published - Dec 2011|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health