【摘要】 本文报告一种新的G6pD变异型。其特点是酶活性严重缺乏(相当于正常1%),电泳慢速,G6P米氏常数降低,底物(脱氧G6P,脱氨NADP及半乳糖6-磷酸)利用率均正常,热稳定性也正常。命名为Gd(-)高鹤型[Gd(-)Gaohe]。同时鉴定了患者一个弟弟的G6PD类型,结果相似。鉴于其弟身体健康而患者有不明诱因的反复溶血发作,并伴有白细胞和血小板减少,皮下出血,最后通过Ham试验及糖水试验证实患者伴有PNH。更多还原

【Abstract】 A new glucose-6-phosphate dehydrogenase (G6PD)variant associated with paroxysmal nocturnal hemoglobinuria (PNH)was discovered. It was found in a 23-years old male who had repeated hemolytic crisis with leucopenia, thromboeytopenia and peteehial hemorrhage. The G6PD activity was 1% of that of the normal. On grounds of reduced electrophoretie mobility, decreased Km G6P, normal substrate analogues utilization rate and normal thermostability, we conclude that this is a new variant which we designate Gd (-)Gaohe. PNH was diagnosed by positive Ham’s test and sucrose lysis test. One of his brother’s G6PD had also been characterized with similar findings.更多还原