Sci Rep. 2012;2:299. doi: 10.1038/srep00299. Epub 2012 Mar 5.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymopathy that affects hundreds of millions of people worldwide, conferring increased risk of neonatal jaundice and oxidant-induced hemolytic anemia. Screening and diagnosis of G6PD deficiency is currently performed using genetic or biochemical assays, the former being cost ineffective in populations with significant allelic heterogeneity, and the latter being limited in ability to detect female heterozygotes. Cytochemical assays can obviate these shortcomings, but at the expense of added technical complexity and labor. We describe here a simple, novel cytofluorometric method that extends the classic methemoglobin reduction test, assessing G6PD deficiency at the level of an individual erythrocyte. In preliminary testing in Malian children, there was strong concordance between our method and established genetic and biochemical techniques. The assay is robust and economical, and could serve as a screening method as well as a research tool, especially for high-throughput applications such as flow cytometry.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是一种 X 连锁酶病，影响着全球数亿人，使新生儿黄疸和氧化剂诱导的溶血性贫血的风险增加。G6PD 缺乏症的筛查和诊断目前采用遗传或生化检测方法，但前者在等位基因异质性显著的人群中成本效益不高，后者在检测女性杂合子方面能力有限。细胞化学检测方法可以避免这些缺点，但代价是增加了技术复杂性和劳动力。我们在这里描述了一种简单、新颖的细胞荧光检测方法，该方法扩展了经典的高铁血红蛋白还原试验，在单个红细胞水平上评估 G6PD 缺乏症。在对马里儿童的初步测试中，我们的方法与已建立的遗传和生化技术之间具有很强的一致性。该检测方法稳定且经济，可作为一种筛选方法和研究工具，特别是对于高通量应用，如流式细胞术。
