Barrai I, Vullo C
Am J Med Genet. 1980;6(3):195-204. doi: 10.1002/ajmg.1320060304.
A group of 613 heterozygotes for beta thalassemia (267 married, 346 unmarried) who were screened mostly at elementary school age, were identified and interviewed at the average age of 23.7 years to assess their knowledge of the heterozygous state and its implications. It was found that 83% recalled some information about their heterozygous state; only 60% had some information about the meaning of being heterozygous, and only 26% said they knew of some relationship between Cooley's anemia and the heterozygous state for beta thalassemia. In the married group, the proportion of those having married another carrier was in agreement with random mating expectations. It was concluded that there is ample room for improvement in the procedures of delivery of prospective genetic counseling at the population level in this area.
一组613名β地中海贫血杂合子(267名已婚,346名未婚),他们大多在小学年龄接受筛查,在平均23.7岁时被识别并接受访谈,以评估他们对杂合子状态及其影响的了解。结果发现,83%的人回忆起了一些关于他们杂合子状态的信息;只有60%的人了解杂合子的含义,只有26%的人表示他们知道库利贫血与β地中海贫血杂合子状态之间的某种关系。在已婚组中,与另一名携带者结婚的比例与随机交配预期相符。得出的结论是,该地区在人群层面提供前瞻性遗传咨询的程序有很大的改进空间。