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99/19 - Deficit di glucosio-6-fosfato deidrogenasi fattori di emolisi. A cura di Anna Maria Salvati, Donatella Maffi, Maria Pia Caforio, Patrizia Caprari, Paolo Cianciulli, Francesco Sorrentino e Sergio Amadori 1999, 27 p.
Glucose-6-phosphate dehydrogenase deficiency and haemolytic agents.
Edited by Anna Maria Salvati, Donatella Maffi, Maria Pia Caforio, Patrizia Caprari, Paolo Cianciulli, Francesco Sorrentino and Sergio Amadori
1999, 27 p. Rapporti ISTISAN 99/19 (in Italian)
Glucose-6-phosphate dehydrogenase deficiency (G6PD) is the most common enzymopathy in human beings. It shows sex linked inheritance and corresponds to a widely heterogeneous group of mutations, the common phenotypical expression being a reduction of the enzyme activity in red blood cells. The most frequent clinical manifestations of this genetic disorder are haemolytic crises caused by an oxidative stress (oxidant drugs, fava beans, infections) and neonatal jaundice. Chronic non spherocytic haemolytic anaemia can be rarely associated with G6PD deficiency. The severity of the clinical picture depends on the intensity of the oxidative damage, on the biochemical properties of the variant enzyme, on individual metabolic and genetic characteristics and finally on the presence of additional or preexisting pathology. The common types of G6PD deficiency are of benign nature, however most clinical manifestations can be prevented by the early diagnosis and an adequate information and education of patients, physicians and other health workers. The metabolic role of G6PD and the wasting effect of the oxidative stress in G6PD deficient erythrocytes are described. The most important causes of clinically significant hyperhaemolysis are reviewed pointing out some biochemical features which seem to be relevant in the haemolytic mechanism and the related clinical complications. Pharmaceutical substances with established and doubtful haemolytic power are listed.
Key words: Drug induced haemolysis, Erythrocyte enzymopathies, Favism, Glucose-6-phosphate dehydrogenase deficiency, Haemolytic anaemia
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