Glucose‐6‐phosphate dehydrogenase deficiency in Sicily. Incidence, biochemical characteristics and clinical implications

Abstract

This report deals with the incidence, type and clinical implications of G6PD deficiency in Sicily. Of 3347 male subjects examined, 56 were deficient in G6PD. They were distributed throughout the island. The G6PD levels in RBC were almost zero; in leukocytes, platelets and saliva they were found to be 26%, 18% and 16%, respectively, of controls. The Michaelis constant for NADP and G6PD was lower than for controls. Conversely, the utilization of the analogous Gal6P and 2dG6P was higher. The thermostability of the enzyme was lower and the pH optima (6.5 and 9.5) were different from the controls. An identical electrophoretic pattern was found both in normal and deficient subjects. This pattern is superimposable on that described as Mediterranean variant. The analysis among 270 subjects admitted to our Clinic with hemolysis due to G6PD deficiency demonstrated that the most frequent disease is favism, followed by neonatal jaundice, while hemolysis due to drugs is very rare. Ingestion of fresh fava beans was the most frequent cause of favism, but cases occurred after breast feeding and inhalation of pollen.

Red cell‐ and platelet‐derived microparticles in G6PD: any other confounding?

“…The recent article on 'red cell-and platelet-derived microparticles in G6PD' is very interesting (1). Indeed, the antioxidative status change and the effect on the red cell and platelet in the G6PD cases have been confirmed for a long time (2,3). However, at present, there are many concerns.…”

Glucose 6‐phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non‐spherocytic haemolytic anaemia

“…In particular, malaria is endemic in Sicily and a previous study showed a rate of about 1·6% of G6PD‐deficient males (56/3347), distributed throughout the island (Schiliro’ et al , 1979).…”

Triagem neonatal de deficiência de glicose-6-fosfato desidrogenase e prevalência das mutações G202A (G6PD A-) e C563T (G6PD Mediterrâneo) em Mato Grosso/Brasil

“…A apresentação clínica vai ser variável em função da gravidade da deficiência enzimática e da influência de Crianças amamentadas ao seio, portadoras de deficiência de G6PD podem apresentar quadro de hemólise associada à ingestão de fava pela mãe 50 . Introdução Estudos têm identificado que a divicina e isouramil, produzidos a partir da vicina e a convicina, dois beta-glicosídeos presentes na fava (Vicia faba), são compostos oxidantes responsáveis pelo desencadeamento dos episódios de "favismo".…”