TEST TO SCREEN FOR ALPHA-THALASSEMIA-1 IN ADULTS

遗传性疾病α-地中海贫血-1被发现的频率最高 在东南亚血统的个体中。 而杂合形式 除了轻微的贫血外， 纯合子条件（称为胎儿水肿）导致胎儿死亡。 那里 目前还没有现成的临床试验来筛选成年人的这种特征。 然而，据报道，α-地中海贫血-1的携带者 基因产生少量的胚胎血红蛋白zeta链。 该项目第二阶段的目标是继续开发 使用单克隆抗体的ζ-珠蛋白链的酶联免疫测定， 抗体在第一阶段产生。 将优化原型试验。 将对临床样本进行分析 通过优化的测定和HPLC测定含ζ血红蛋白。 将测量这些样本的血液学特征。 具体 还将确定一些样品的基因缺失。 这些数据 将用于证明检测试剂盒用于筛选的有效性 α地中海贫血-1的成年人群。 含ζ链红细胞的第二种潜在筛选试验 细胞将被开发。 一种抗ζ链单克隆抗体， 与荧光素缀合。 这将用于标记zeta珠蛋白链 在制备的红细胞中，用于测定zeta链 通过流式细胞术检测含有细胞的细胞。

The genetic disorder alpha-thalassemia-1 is found with highest frequency in individuals of southeast Asian ancestry. While the heterozygous form may have no adverse health effects except for slight anemia, the homozygous condition (known as hydrops fetalis) causes fetal death. There is no readily available clinical assay to screen adults for this trait. However, it has been reported that carriers of the alpha-thalassemia-1 gene produce small quantities of the embryonic hemoglobin zeta-chain. The goal of the second phase of this project is to continue development of an enzyme linked immunoassay for zeta-globin chains using the monoclonal antibodies developed in the first phase. The prototype assay will be optimized. Clinical samples will be assayed for zeta-containing hemoglobin by the optimized assay and by HPLC. Hematological characteristics of these samples will be measured. Specific gene deletions of some of the samples will also be determined. These data will be used to demonstrate the usefulness of the assay for screening adult populations for alpha-thalassemia-1. A second potential screening assay for zeta-chain containing red blood cells will be developed. An anti-zeta-chain monoclonal antibody is conjugated to fluorescein. This will be used to label zeta globin chains in prepared red blood cells, for the determination of zeta chain containing cells by flow cytometry.