β-地中海贫血是一种常见的、严重的单基因缺陷性疾病,主要是因β-珠蛋白基因突变引起β-珠蛋白合成障碍,异常血红蛋白被分解导致的溶血性贫血,重者可致死。可在胎儿出生前16周取羊水细胞或妊娠10周取绒毛膜细胞进行DNA序列分析,诊断胎儿是否患有β-地中海贫血,父母可据此决定 β-thalassemia is a common and serious single-gene defect, mainly due to β-globin gene mutation caused by β-globin synthesis obstacles, abnormal hemoglobin is decomposed leading to hemolytic anemia, severe cases can be fatal. 16 weeks before birth can be taken amniotic fluid cells or 10 weeks gestation chorionic cells DNA sequence analysis to diagnose whether the fetus has β-thalassemia, the parents can be decided accordingly