Schiliro G, Russo A, Curreri R, Marino S, Sciotto A, Russo G
Clin Genet. 1979 Feb;15(2):183-8. doi: 10.1111/j.1399-0004.1979.tb01759.x.
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 Ga16P 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.
本报告探讨了西西里岛葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的发病率、类型及临床意义。在接受检查的3347名男性受试者中，有56人存在G6PD缺乏。他们分布于全岛。红细胞中的G6PD水平几乎为零；白细胞、血小板和唾液中的G6PD水平分别为对照组的26%、18%和16%。NADP和G6PD的米氏常数低于对照组。相反，类似的半乳糖-6-磷酸（Ga16P）和2-脱氧葡萄糖-6-磷酸（2dG6P）的利用率更高。该酶的热稳定性较低，最适pH值（6.5和9.5）与对照组不同。在正常受试者和缺乏症受试者中发现了相同的电泳图谱。该图谱与描述为地中海变异型的图谱可叠加。对因G6PD缺乏症导致溶血而入住我们诊所的270名受试者进行的分析表明，最常见的疾病是蚕豆病，其次是新生儿黄疸，而药物引起的溶血非常罕见。食用新鲜蚕豆是蚕豆病最常见的病因，但也有母乳喂养和吸入花粉后发病的病例。
