Olivares N, Medina C, Sánchez-Corona J, Rivas F, Rivera H, Hernández A, Delgado J L, Ibarra B, Cantú J M, Vaca G, Martínez C
Arch Invest Med (Mex). 1979;10(4):177-86.
Results are reported concerning quantitation of glucose -6- phosphate dehydrogenase (G6PD) enzyme activity where in one of the members of a family a clinical diagnosis of acute hemolytic anemia due to G6PD deficiency had been established. In the propositus, G6PD levels were found to be less than 10 per cent thus confirming diagnosis; the same enzymatic deficiency was identified in one of the siblings without a history of hematologic pathology and in a maternal cousin with a history of neonatal jaundice as well as two obliged carriers. Electrophoretical enzyme phenotype was similar to A variant in three affected males. Advantages of prevention and medical care possible with early diagnosis of G6PD deficiency are discussed.
报告了关于葡萄糖-6-磷酸脱氢酶(G6PD)酶活性定量的结果,在一个家族的一名成员中已确诊因G6PD缺乏导致的急性溶血性贫血。在该先证者中,发现G6PD水平低于10%,从而确诊;在一名无血液学病史的兄弟姐妹以及一名有新生儿黄疸病史的母系表亲中也发现了相同的酶缺乏,还有两名必然携带者。三名受影响男性的电泳酶表型与A变异型相似。讨论了早期诊断G6PD缺乏可能带来的预防和医疗优势。