Gan Y Y, Lai C M, Lee S H, Gan L H
School of Science, NIE, Nanyang Technological University, Singapore.
Ann Acad Med Singap. 1996 Jan;25(1):75-8.
The thalassaemias are a major group of genetic disorders in Southeast Asia that affect the production of the alpha-globin chain (alpha-thalassaemia) or the beta-globin chain (beta-thalassaemia) of the haemoglobin. As a result of defective globin chain synthesis, individuals with this disorder show varying degrees of anaemia due to ineffective erythropoiesis and haemolysis. The presence of abnormal haemoglobins in thalassaemia patients has enabled the detection of thalassaemia using immunological methods which have certain advantages over the conventional diagnostic methods. This paper reviews the application of various types of antibodies against the different types of haemoglobins used for the detection of thalassaemia. The developed antibodies include the polyclonal antibodies against Hb Bart's and Hb H; monoclonal antibodies (mab) against Hb H, used in a sandwich enzyme-linked immunosorbent assay (ELISA), for detecting carriers of (--SEA/) deletion and deletions involving the complete zeta-alpha-globin gene cluster, such as (--alpha FIL/), (--alpha THAI/) and (--HW/), which are the common deletional alpha-thalassaemias in Southeast Asians; mab against zeta-globin chains used in an immunocytological test, for the detection of adult carriers of (--SEA/) deletion except for (alpha 20.5/), (--alpha FIL/) and (--alpha THAI/) (this simple test is useful in identifying couples at risk of conceiving foetuses afflicted with the Hb Bart's hydrops foetalis syndrome due to homozygous alpha-thalassaemia); mab against Hb A2 and beta- and gamma-globin chains used for the quantitation of Hb A2 in beta-thalassaemia and the diagnosis of beta-thalassaemia major in foetuses respectively; other mabs produced to date include those specific to haemoglobins D-Los Angeles, J-Baltimore, O-Arab and J-Paris-I.
地中海贫血是东南亚地区主要的一组遗传性疾病，会影响血红蛋白的α珠蛋白链（α地中海贫血）或β珠蛋白链（β地中海贫血）的生成。由于珠蛋白链合成存在缺陷，患有这种疾病的个体因无效造血和溶血而表现出不同程度的贫血。地中海贫血患者体内异常血红蛋白的存在使得利用免疫方法检测地中海贫血成为可能，这种方法相对于传统诊断方法具有一定优势。本文综述了针对用于检测地中海贫血的不同类型血红蛋白的各类抗体的应用情况。已开发的抗体包括针对Hb Bart's和Hb H的多克隆抗体；用于夹心酶联免疫吸附测定（ELISA）以检测（--SEA/）缺失携带者以及涉及完整ζ-α珠蛋白基因簇缺失（如（--α FIL/）、（--α THAI/）和（--HW/），这些是东南亚人中常见的缺失型α地中海贫血）的针对Hb H的单克隆抗体（mab）；用于免疫细胞检测以检测除（α20.5/）、（--α FIL/）和（--α THAI/）之外的（--SEA/）缺失成年携带者的针对ζ珠蛋白链的mab（这种简单检测方法有助于识别有生育受Hb Bart's胎儿水肿综合征影响胎儿风险的夫妇，因为胎儿患有纯合α地中海贫血）；分别用于定量β地中海贫血中Hb A2以及诊断胎儿重型β地中海贫血的针对Hb A2和β-及γ-珠蛋白链的mab；迄今为止产生的其他mab包括针对血红蛋白D - 洛杉矶、J - 巴尔的摩、O - 阿拉伯和J - 巴黎 - I的特异性mab。
