Retrospective analysis of prenatal screening and prenatal diagnosis ofβ-thalassemia in Xiaolan area in Zhongs-han

HUANG Jian-yun; MO He-guo; SHANG Xuan; CHAI De-cheng; LIANG Huan-gu; WANG Dong-na; YUN Zhu-jin; HUANG Pei-jian

Abstract：Objective To analyze the β-thalassemia spectrum in Xiaolan area in Zhongshan by investigating the genotype of pregnant women and their spouses in the process of prenatal screening and diagnosis .Methods General he-matologic detection and hemoglobin electrophoresis for thalassemia was carried out on peripheral venous blood samples of all prenatal women in our hospital .The husband was called back if his wife showed positive result in phenotype screening . Molecular diagnosis towards thalassemia mutations was performed by Gap -PCR and PCR-RDB techniques .If both wife and husband carry the β-thalassemia mutation , prenatal diagnosis was performed .Results 22 220 pregnant women were analyzed .5 560 women showed positive results in phenotype screening , and 2621 women carried thalassemia mutations confirmed by molecular diagnosis .1 065 women carried β-thalassemia mutations and 138 of them were compound hetero-zygote ofβandαthalassemia .1 164 husbands were called back for molecular diagnosis and 204 husbands carried thalasse-mia mutations .80 husbands carried β-thalassemia mutations and 11 of them were compound heterozygote of βandαthalassemia .12 β-thalassemia mutations were detected .The common mutations include CD 41 -42 ( -TCTT ) ( ac-counting for 48.75%in men and 44.41% in women) and CD17(A→T)(accounting for 15% in men and 19.72% in women ) .22 couples were both carriers of β-thalassemia genes .Prenatal diagnosis was conducted in 20 couples and 9 fe-tuses were diagnosed to be thalassemia major .2 couples rejected prenatal diagnosis and one of them gave birth to a thalas-semia major baby .Conclusion Carriers ofβ-thalassemia gene is quite common in Zhongshan , but compliance to prena-tal screening and diagnosis of β-thalassemia is poor .Effective prenatal screening plus prenatal diagnosis is important to prevent thalassemia and improve the population quality .