Skogerboe K J, West S F, Smith C, Terashita S T, LeCrone C N, Detter J C, Tait J F
Department of Laboratory Medicine, University of Washington School of Medicine, Seattle 98104.
Arch Pathol Lab Med. 1992 Oct;116(10):1012-8.
We evaluated potential screening protocols for alpha-thalassemia in a group of 80 patients whose genotypes were determined by Southern blot analysis with alpha- and zeta-globin DNA probes. Erythrocyte inclusion bodies were measured by a modified brilliant cresyl blue test. Erythrocyte indices and iron status were also measured. The brilliant cresyl blue test reliably detects couples at risk for hemoglobin Bart's hydrops fetalis. Measurement of the number of inclusion bodies differentiates the alpha-thalassemia genotypes in the absence of a coincident beta-chain synthesis deficiency, such as hemoglobin E or beta-thalassemia. The test appears to identify patients, such as those with the Thai and Filipino deletion variants, whose alpha-thalassemia cannot be definitively characterized by DNA testing when only alpha- and zeta-globin probes are used in the analysis. We also found evidence of elevated serum ferritin levels in many patients with deletion of two or three alpha-globin genes. This study shows that most routine screening for alpha-thalassemia can be performed with three simple tests: (1) the brilliant cresyl blue inclusion study, (2) erythrocyte indices, and (3) iron studies. Analysis with DNA probes is needed in only some circumstances.
我们对80名患者进行了α地中海贫血潜在筛查方案的评估，这些患者的基因型通过使用α和ζ珠蛋白DNA探针的Southern印迹分析来确定。红细胞包涵体通过改良的煌焦油蓝试验进行检测。还测量了红细胞指数和铁状态。煌焦油蓝试验能够可靠地检测出有患血红蛋白Bart水肿胎儿风险的夫妇。在不存在同时发生的β链合成缺陷（如血红蛋白E或β地中海贫血）的情况下，通过测量包涵体数量可以区分α地中海贫血的基因型。该试验似乎能够识别出一些患者，比如那些具有泰国和菲律宾缺失变异的患者，当分析中仅使用α和ζ珠蛋白探针时，他们的α地中海贫血无法通过DNA检测明确表征。我们还发现，许多缺失两个或三个α珠蛋白基因的患者存在血清铁蛋白水平升高的证据。这项研究表明，大多数α地中海贫血的常规筛查可以通过三项简单试验进行：（1）煌焦油蓝包涵体研究，（2）红细胞指数，以及（3）铁研究。仅在某些情况下才需要使用DNA探针进行分析。
