Kleanthous M, Kyriacou K, Kyrri A, Kalogerou E, Vassiliades P, Drousiotou A, Kallikas I, Ioannou P, Angastiniotis M
The Cyprus Institute of Neurology and Genetics, PO Box 23462, Nicosia 1463, Cyprus.
Prenat Diagn. 2001 May;21(5):413-7. doi: 10.1002/pd.73.
In Cyprus all couples carrying alpha0-thalassaemia mutations are detected in the course of the thalassaemia carrier screening program and prenatal diagnosis is offered to all of them. Prenatal diagnosis for alpha-thalassaemia is routinely done by two independent molecular methods. With the first method, the mutations of the parents are directly determined by gap-PCR and then the chorionic villus sample (CVS) is examined for the presence of these mutations. With the other method, a (CA)n repeat polymorphic site located between the psialpha1- and alpha2-globin genes is used for determining the presence or absence of the normal and mutant alleles. In the period from 1995 to 1999, molecular analysis of 46 couples in which haematological data were consistent with deletion of two alpha-globin genes in both partners indicated that only 13 of them were actually at risk for haemoglobin (Hb) Bart's hydrops fetalis and prenatal diagnosis was provided in 16 pregnancies. The molecular diagnosis was possible in all cases with the use of both gap-PCR and (CA)n repeat polymorphisms analysis. No misdiagnosed cases for alpha-thalassaemia have been reported to date.
在塞浦路斯，所有携带α0地中海贫血突变的夫妇都是在地中海贫血携带者筛查项目中被检测出来的，并且为他们所有人提供产前诊断。α地中海贫血的产前诊断通常通过两种独立的分子方法进行。第一种方法是，通过缺口聚合酶链反应（gap-PCR）直接确定父母的突变，然后检查绒毛膜绒毛样本（CVS）中是否存在这些突变。另一种方法是，利用位于ψα1和α2珠蛋白基因之间的（CA）n重复多态性位点来确定正常和突变等位基因的存在与否。在1995年至1999年期间，对46对夫妇进行分子分析，这些夫妇的血液学数据表明双方都缺失两个α珠蛋白基因，结果显示其中只有13对夫妇实际上有患血红蛋白Bart胎儿水肿综合征的风险，并且为16次妊娠提供了产前诊断。使用缺口聚合酶链反应和（CA）n重复多态性分析，所有病例都能够进行分子诊断。迄今为止，尚未报告α地中海贫血的误诊病例。
