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采用基因扩增法对产前孕妇检查是否携带有α-地贫基因缺陷。并对已检出的α-地贫静止型与平均红细胞体积(MCV)、红细胞脆性进行统计分析。在1432份受检α-地贫血样中有71例α-地贫静止型被检出。其中MCV>80fl,同时红细胞脆性试验>60%40例,MCV<80fl和(或)红细胞脆性试验<60%31例。结果显示:MCV、红细胞脆性试验对α-地贫静止型的诊断意义不大。对于一方已确诊携带有--SEA基因的α-地贫夫妇,另一方必须进行α-地贫(包括α-地贫静止型)的基因检测,以防止HbH病的小儿出生则意义重大。
Gene amplification method for prenatal diagnosis of pregnant women carrying α-thalassemia gene defects. Statistically analyzed were static α-thalassemia and mean corpuscular volume (MCV) and erythrocyte fragility. Seventy-one cases of a-thalassemia were detected in 1432 subjects with alpha-thalassemia. Including MCV> 80fl, erythrocyte fragility test> 60% 40 cases, MCV <80fl and / or erythrocyte fragility test <60% 31 cases. The results showed that MCV and erythrocyte fragility test had little significance for the diagnosis of a-thalassemia. For couples with α-thalassemia who have been diagnosed with the -SEA gene on one side, the other must carry out genetic testing for α-thalassemia (including α-thalassemia statins) to prevent the development of a child with HbH disease.