Diagnostics Program, PATH, Seattle, WA, USA.
Shoklo Malaria Research Unit, Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Sot, Thailand.
Eur J Haematol. 2018 Mar;100(3):294-303. doi: 10.1111/ejh.13013. Epub 2018 Jan 15.
Medicines that exert oxidative pressure on red blood cells (RBC) can cause severe hemolysis in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Due to X-chromosome inactivation, females heterozygous for G6PD with 1 allele encoding a G6PD-deficient protein and the other a normal protein produce 2 RBC populations each expressing exclusively 1 allele. The G6PD mosaic is not captured with routine G6PD tests.
An open-source software tool for G6PD cytofluorometric data interpretation is described. The tool interprets data in terms of % bright RBC, or cells with normal G6PD activity in specimens collected from 2 geographically and ethnically distinct populations, an African American cohort (USA) and a Karen and Burman ethnic cohort (Thailand) comprising 242 specimens including 89 heterozygous females.
The tool allowed comparison of data across 2 laboratories and both populations. Hemizygous normal or deficient males and homozygous normal or deficient females cluster at narrow % bright cells with mean values of 96%, or 6% (males) and 97%, or 2% (females), respectively. Heterozygous females show a distribution of 10-85% bright cells and a mean of 50%. The distributions are associated with the severity of the G6PD mutation.
Consistent cytofluorometric G6PD analysis facilitates interlaboratory comparison of cellular G6PD profiles and contributes to understanding primaquine-associated hemolytic risk.
对红细胞（RBC）施加氧化压力的药物会导致葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症患者发生严重溶血。由于 X 染色体失活，G6PD 杂合子女性的 1 个等位基因编码 G6PD 缺乏蛋白，另 1 个等位基因编码正常蛋白，每个 RBC 群体仅表达 1 个等位基因。G6PD 嵌合体无法通过常规 G6PD 检测捕捉到。
描述了一种用于 G6PD 细胞荧光数据解释的开源软件工具。该工具根据 %bright RBC（即标本中具有正常 G6PD 活性的细胞）解释数据，这些标本来自两个地理位置和种族不同的人群，一个是美国的非裔美国人队列，另一个是泰国的 Karen 和 Burman 种族队列，共包含 242 个标本，其中包括 89 个杂合子女性。
该工具允许在两个实验室和两个人群之间比较数据。半合子正常或缺陷男性和纯合子正常或缺陷女性聚类在狭窄的 %bright 细胞中，平均值分别为 96%或 6%（男性）和 97%或 2%（女性）。杂合子女性表现出 10-85%bright 细胞的分布和平均值为 50%。这些分布与 G6PD 突变的严重程度相关。
一致的细胞荧光 G6PD 分析有助于实验室间细胞 G6PD 图谱的比较，并有助于了解与伯氨喹相关的溶血风险。
