Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10-year follow-up study
Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10-year follow-up study
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DOI：
10.1002/jcla.23982
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发表时间：
2021-09-04
影响因子：
2.7
通讯作者：
Xu, Liangpu
中科院分区：
文献类型：
--
作者：
Huang, Hailong;Chen, Meihuan;Xu, Liangpu
地中海贫血在中国东南部非常普遍。这项为期10年的随访研究旨在表征来自中国东南部福建省地中海贫血携带者的胎儿样本的基因型和核型。收集472对携带α -地中海贫血性状的夫妇的476份产前样本和223对携带β -地中海贫血性状的夫妇的224份产前样本进行STR分析、地中海贫血基因型检测和核型分析。采用Gap-PCR法检测常见缺失型α -地中海贫血和罕见型地中海贫血基因型，采用PCR-RDB法检测常见-珠蛋白基因突变。我们在476例α -地中海贫血夫妇产前样本中检测到43.49%的α -地中海贫血轻度患病率，26.05%的α -地中海贫血中度和重度患病率，1.89%的罕见型患病率；在224例β -地中海贫血夫妇产前样本中检测到-地中海贫血杂合子胎儿85例，纯合子胎儿16例，双杂合子胎儿21例，以及罕见的β (IVS)(-2-6)(54(C -> T))/中国G(γ)((a) γ - δ β)(0)（）基因型。核型分析显示7例胎儿核型异常。153例妊娠终止，引产后使用胎儿脐带血对地中海贫血进行遗传诊断，结果与产前诊断一致。正常婴儿出生半年后未发现地中海贫血表型，α -地中海贫血和β -地中海轻度贫血患儿无或轻度贫血症状，发育正常，而血红蛋白H病患儿15例出现中度贫血症状。我们的数据表明，对于携带地中海贫血特征的夫妇，妊娠期筛查地中海贫血，特别是复合和罕见形式的地中海贫血。
Thalassaemia is highly prevalent in southeastern China. This 10-year follow-up study aimed to characterize the genotype and karyotype of thalassaemia in fetal samples derived from thalassemia carriers in Fujian province, southeastern China. A total of 476 prenatal samples from 472 couples carrying alpha-thalassaemia traits and 224 samples from 223 couples carrying beta-thalassaemia traits were collected for STR analysis, detection of thalassemia genotypes and karyotyping. The common deletional alpha-thalassemias and rare thalassemia genotypes were detected using Gap-PCR assay, and the common beta-globin gene mutations were detected using PCR-RDB assay. We detected 43.49% prevalence of alpha-thalassaemia minor, 26.05% prevalence of alpha-thalassaemia intermediate and major and 1.89% prevalence of rare form among the 476 prenatal samples from couples with alpha-thalassaemia, and 85 fetuses with beta-thalassemia heterozygote, 16 with homozygote and 21 with double heterozygote, and a rare beta(IVS)(-2-6)(54(C -> T))/Chinese G(gamma) ((A)gamma delta beta)(0)( )genotype among the 224 prenatal samples from couples with beta-thalassemia. Karyotyping showed 7 fetuses with abnormal karyotypes. Totally 153 pregnancies were terminated, and genetic diagnosis of thalassemia using fetal umbilical cord blood following induction of labor showed consistent results with prenatal diagnosis. No thalassemia phenotypes were identified in normal infants half a year after birth, and the infants with alpha-thalassemia and beta-thalassemia minor had no or mild anemia symptoms, but normal development, while 15 babies with hemoglobin H disease presented moderate anemia symptoms. Our data suggest the pregestational screening of thalassemia, notably compound and rare forms of thalassemia, for couples carrying thalassemia traits.