Tang W, Luo H Y, Eng B, Waye J S, Chui D H
Department of Pathology, McMaster University School of Medicine, Hamilton, Ontario, Canada.
Lancet. 1993 Nov 6;342(8880):1145-7. doi: 10.1016/0140-6736(93)92125-d.
The gene frequency for (--SEA/) deletional alpha-thalassaemia is high in Southeast Asian populations. We report a simple immunocytological test that is highly sensitive and specific for the detection of adult carriers of the (--SEA/) deletion. We prospectively studied 206 consecutive adult blood samples. All 41 with the (--SEA/) deletion had a positive test; all but 1 of the 165 non-carriers were negative. This test, whose major requirement is a fluorescence microscope, should be useful to identify couples at risk of conceiving fetuses with homozygous alpha-thalassaemia.
东南亚人群中（--SEA/）缺失型α地中海贫血的基因频率较高。我们报告了一种简单的免疫细胞检测方法，该方法对检测（--SEA/）缺失型的成年携带者具有高度敏感性和特异性。我们对连续的206份成人血液样本进行了前瞻性研究。所有41例（--SEA/）缺失型患者检测结果均为阳性；165例非携带者中除1例外其余均为阴性。该检测方法主要需要一台荧光显微镜，对于识别有孕育纯合子α地中海贫血胎儿风险的夫妇应该会有帮助。
