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日本的葡萄糖-6-磷酸脱氢酶变体

Glucose 6-phosphate dehydrogenase variants in Japan.

作者信息

Miwa S

出版信息

Hemoglobin. 1980;4(5-6):781-7. doi: 10.3109/03630268008997746.

Abstract

Fifty-four cases of glucose 6-phosphate dehydrogenase (G6PD) deficiency have so far been reported in Japan. Among them, 21 G6PD variants have been characterized. Nineteen out of the 21 variants were characterized in our laboratory and G6PD Heian and "Kyoto" by others. G6PD Tokyo, Tokushima, Ogikubo, Kurume, Fukushima, Yokohama, Yamaguchi, Wakayama, Akita, Heian and "Kyoto" were classified as Class 1, because all these cases showed chronic hemolytic anemia and severe enzyme deficiency. All these variants showed thermal instability. G6PD Mediterranean-like, Ogori, Gifu and Fukuoka were classified as Class 2, whereas G6PD Hofu, B(-) Chinese, Ube, Konan, Kamiube and Kiwa belonged to Class 3. All the 6 Class 3 variants were found as the results of the screening tests. The incidence of the deficiency in Japanese seems to be 0.1-0.5% but that of the cases which may slow drug-induced hemolysis would be much less. G6PD Ube and Konan appear to be relatively common in Japan.

摘要

到目前为止,日本已报告了54例葡萄糖6-磷酸脱氢酶(G6PD)缺乏症病例。其中,已鉴定出21种G6PD变体。21种变体中的19种是在我们实验室鉴定的,G6PD平安型和“京都型”是由其他实验室鉴定的。G6PD东京型、德岛型、荻洼型、久留米型、福岛型、横滨型、山口型、和歌山型、秋田型、平安型和“京都型”被归类为1类,因为所有这些病例均表现为慢性溶血性贫血和严重的酶缺乏。所有这些变体均表现出热不稳定。G6PD地中海样型、小郡型、岐阜型和福冈型被归类为2类,而G6PD府户型、B(-)中国型、宇部型、小南型、上宇部型和木和型属于3类。所有6种3类变体都是筛查试验的结果。日本人中这种缺乏症的发病率似乎为0.1-0.5%,但可能导致药物性溶血的病例发病率要低得多。G6PD宇部型和小南型在日本似乎相对常见。

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