遗传性红细胞葡糖-6-磷酸脱氢酶缺乏症

本文综述了近30余年来作者等对遗传性红细胞葡糖一6一磷酸脱氢酶缺乏症研究的概况。主要包括:①蚕豆病的流行病学、病因发病机理、遗传学及防治研究,否定了花粉诱发溶血的论断;在国内首先证实葡糖一6一磷酸脱氢酶(G6 PD)缺乏是蚕豆病的遗传背景;采取了综合性防治措施降低了蚕豆病的发病率。②对G6 PD缺乏所致新生儿核黄疸进行了综合防治,取得了满意效果。③对全国13省、市、自治区及12个民族进行了大规模的基因频率调查,发现本病呈“南高北低”规律;对G6PD缺乏症患者血样进行了变异型鉴定,发现17种新变异型。④在广东省从DNA水平找到中国人中存在6种点突变。

HEREDITARY ERYTHROCYTE GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

Studies on glucose-6-phosphate dehydrogenase deficiency during the past 30 to 40 years are briefly reviewed. Mainly included: (1) studies on the epidemiology, etiology, pat-hogenesis, genetics, prevention and treatment of favism. The theory of pollen induced hae-molytic crisis has been disproved, G6PD deficiency, the genetic background of favism, has been proved in this country. Combined prophylactic measures were conducted and decreased the morbidity of favism significantly. (2) combined measures were introduced to prevent and treat G6PD deficiency induced kernicterus, and a satisfactory result was obtained. (3) A mass survey covering thirteen provinces and twelve nationalities for gene frequency estimation has been conducted and found a high in the south and low in the north. G6PD deficient blood samples were characterized and 17 newly defined G6PD variants were identified. (4) An investigation was carried out on DNA level, six point mutations were detected among G6PD deficient Chinese in Guangdong province.