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东南亚各国和我国长江以南各省区人群中东南亚缺失型(--~SEA)α地中海贫血(地贫)基因携带率高达4%～14%。--~SEA 自身或与α地贫2(-α,如-α~3.7和-α~4.2)或非缺失型(α~T)α地贫相互组合可分别引起致死的Hb Bart’s水肿综合征和严重影响生命质量的 HbH 病。目前对该病尚无根本有效的治疗方法,通过遗传筛查和产前诊断选择性地淘汰重型α地贫胎儿是控制该病发生的唯一途径,其中--~SEA 携带者的鉴定则是关键的一步。我们采用单管多重 PCR(gap-PCR)技术作为标准并辅以铁代谢状态的分析,对酶联免疫吸附试验(ELLSA)检测外周血红细胞中ζ珠蛋白链作为临床--~SEA 携带者的常规筛查方法进行了评价,以期为该型α地贫的大样本人群筛查提供新的技术选择。
The carrying rate of missing thalassemia (thalassemia) gene in Southeast Asia countries and Southeast Asia provinces and regions in Southeast Asia and China is as high as 4% -14%. - SEA alone or in combination with a thalassemia 2 (-alpha, such as -alpha.3.7 and -alpha.4.2) or non-deletional (a-T) a thalassemia can cause lethal Hb Bart’s edema syndrome And HbH disease that seriously affects the quality of life. Currently, there is no fundamental and effective treatment for this disease. The selective elimination of the severe alpha-thalamic fetus through genetic screening and prenatal diagnosis is the only way to control the disease, and the identification of ~ SEA carriers is the key A step. We used single-tube multiplex PCR (gap-PCR) as a standard and supplemented with analysis of iron metabolism, and enzyme linked immunosorbent assay (ELLSA) was used to detect ζ-globin chain in peripheral blood red blood cells as a clinical-SEA carrier The routine screening method was evaluated in order to provide a new technical choice for screening large sample population of this type of alpha thalassemia.