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目的通过对Hb Bart’s症高风险妊娠进行产前诊断,以控制该类患儿的出生。方法采用聚合酶链反应结合琼脂糖凝胶电泳对脐带血、羊水或绒毛组织进行α-珠蛋白生成障碍性贫血基因检测,对同时合并β-珠蛋白生成障碍性贫血的高风险妊娠进行β-珠蛋白生成障碍性贫血基因检测。结果 1842例胎儿中检出Hb Bart’s症462例,包括1例合并中间型β-珠蛋白生成障碍性贫血,同时检出中间型β-珠蛋白生成障碍性贫血2例,HbH病30例,Hb Bart’s症及中间型β-珠蛋白生成障碍性贫血妊娠均终止妊娠。结论产前诊断能有效地预防Hb Bart’s症患者的出生,同时应重视合并型珠蛋白生成障碍性贫血的检测与干预。
OBJECTIVE To control prenatal diagnosis of Hb Bart’s disease at high risk of pregnancy by controlling prenatal diagnosis. Methods Polymerase chain reaction combined with agarose gel electrophoresis of cord blood, amniotic fluid or villi tissue α-globin amebiasis gene detection of concurrent β-globin aplastic anemia in high-risk pregnancy β- Detection of globin genesis anemia. Results A total of 462 cases of Hb Bart’s disease were detected in 1842 fetuses, including 1 case of intermediate β-globin aplastic anemia, 2 cases of intermediate β-globinogenic anemia, 30 cases of HbH disease, Bart’s disease and intermediate β-globin aplastic anemia pregnancy termination of pregnancy. Conclusions Prenatal diagnosis can effectively prevent the birth of patients with Hb Bart’s disease. At the same time, the detection and intervention of combined type-globin amebiasis should be emphasized.