Lafferty J D, Crowther M A, Waye J S, Chui D H
Provincial Hemoglobinopathy Laboratory, Hamilton Regional Laboratory Medicine Program, McMaster University, Hamilton, Ontario, Canada.
Am J Clin Pathol. 2000 Dec;114(6):927-31. doi: 10.1309/26G7-BQH4-93BV-UR0Q.
Homozygous (--SEA) alpha zero-thalassemia deletion, the cause of up to 80% of fetal hydrops in Southeast Asia, is encountered in many other countries. Heterozygous carrier rates of the deletion in Southeast Asian populations range from 4% to 14%. The laboratory screening for adult carriers of (--SEA) and other alpha zero-thalassemia deletions currently rests primarily with microscopic detection of hemoglobin H inclusion bodies within erythrocytes (Hb H screen). This test is laborious and observer dependent and has poor sensitivity. We assessed a colorimetric enzyme-linked immunosorbent assay (ELISA) to detect embryonic zeta-globin chains in adult hemolysates as an alternative to detect (--SEA) alpha zero-thalassemia deletion carriers. Blood samples from 221 adults with a mean corpuscular volume less than 80 micron 3 (80 fL) were studied prospectively by currently accepted hemoglobin screening tests and ELISA. Suspected cases of alpha-thalassemia were confirmed by DNA-based diagnostics. ELISA was highly sensitive (1.0) and specific (0.94) for the detection of adult carriers of (--SEA) alpha zero-thalassemia deletion. The hemoglobin H screen had a sensitivity of 0.47 and specificity of 0.99. The zeta-globin ELISA proved simple to perform, rapid, and applicable to high volume or population-based screening programs.
纯合子（--SEA）α零地中海贫血缺失是东南亚高达80%的胎儿水肿的病因，在许多其他国家也有发现。东南亚人群中该缺失的杂合子携带率在4%至14%之间。目前，对成人（--SEA）和其他α零地中海贫血缺失携带者的实验室筛查主要依靠显微镜检测红细胞内的血红蛋白H包涵体（Hb H筛查）。该检测方法费力且依赖观察者，灵敏度较差。我们评估了一种比色酶联免疫吸附测定法（ELISA），以检测成人溶血产物中的胚胎ζ珠蛋白链，作为检测（--SEA）α零地中海贫血缺失携带者的替代方法。对221名平均红细胞体积小于80立方微米（80飞升）的成年人的血样，采用目前公认的血红蛋白筛查试验和ELISA进行前瞻性研究。疑似α地中海贫血病例通过基于DNA的诊断方法得以确诊。ELISA检测（--SEA）α零地中海贫血缺失的成人携带者具有高灵敏度（1.0）和高特异性（0.94）。血红蛋白H筛查的灵敏度为0.47，特异性为0.99。ζ珠蛋白ELISA操作简单、快速，适用于大规模或基于人群的筛查项目。
