Pujades A, Lewis M, Salvati A M, Miwa S, Fujii H, Zarza R, Alvarez R, Rull E, Corrons J L
Hematology Laboratory for Anemia Research, IDIBAPS Hospital Clinic i Provincial, Barcelona, Spain.
Int J Hematol. 1999 Jun;69(4):234-6.
Several screening tests for glucose 6 phosphate dehydrogenase (G6PD) deficiency have been reported thus far, and a standardized method of testing was proposed by the International Council for Standardization in Hematology (ICSH). The screening test used in any particular laboratory depends upon a number of factors such as cost, time required, temperature, humidity, and availability of reagents. In this study, a direct comparison between three different G6PD screening methods has been undertaken. In 71 cases (50 hematologically normal volunteers, 9 hemizygous G6PD-deficient males, and 12 heterozygous deficient females), the blue formazan spot test (BFST) was compared with the conventional methemoglobin reduction test (HiRT) and the ICSH-recommended fluorescent spot test (FST-ICSH). In all cases, the results obtained with the three screening tests were correlated with the enzyme activity assayed spectrophotometrically. In hemizygous G6PD-deficient males, all cases were equally detected with the three methods: BFST (4.7-6.64, controls: 11.1-13.4), BMRT (score +3 in all 9 cases), and FST (no fluorescence in 9 cases). In heterozygous G6PD-deficient females, two methods detected 7 out of 12 cases (BFST: 8.71-11.75, controls: 11.1-13.4; and BMRT: score +3 in 7 cases), whereas the FST-ICSH missed all 12 cases that presented a variable degree of fluorescence. Although the sensitivity for G6PD-deficient carrier detection is the same for the BMRT and the BFST, the latter has the advantage of being semiquantitative and not merely qualitative. Unfortunately, none of the three screening tests compared here allowed the detection of the 100% heterozygote carrier state of G6PD deficiency.
迄今为止，已有多种针对葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的筛查试验被报道，国际血液学标准化委员会（ICSH）提出了一种标准化的检测方法。任何特定实验室所采用的筛查试验取决于诸多因素，如成本、所需时间、温度、湿度以及试剂的可获得性。在本研究中，对三种不同的G6PD筛查方法进行了直接比较。在71例病例中（50名血液学正常志愿者、9名半合子G6PD缺乏男性以及12名杂合子缺乏女性），将蓝色甲臜斑点试验（BFST）与传统的高铁血红蛋白还原试验（HiRT）以及ICSH推荐的荧光斑点试验（FST-ICSH）进行了比较。在所有病例中，三种筛查试验所获得的结果均与通过分光光度法测定的酶活性相关。在半合子G6PD缺乏男性中，三种方法对所有病例的检测效果相同：BFST（4.7 - 6.64，对照组：11.1 - 13.4）、BMRT（所有9例病例评分均为+3）以及FST（9例病例均无荧光）。在杂合子G6PD缺乏女性中，两种方法检测出了12例中的7例（BFST：8.71 - 11.75，对照组：11.1 - 13.4；BMRT：7例病例评分均为+3），而FST-ICSH漏检了所有12例呈现不同程度荧光的病例。尽管BMRT和BFST对G6PD缺乏携带者检测的敏感性相同，但后者具有半定量而非仅仅定性的优势。遗憾的是，这里所比较的三种筛查试验均无法检测出100%的G6PD缺乏杂合子携带者状态。
