Villegas A, Sanchez J, Gonzalez F A, Carreño D L, Ropero P
Sevicio de Hematologia, Hospital Universitario San Carlos, Universidad Complutense, Madrid, Spain.
Am J Hematol. 1994 Aug;46(4):367-8. doi: 10.1002/ajh.2830460421.
We have detected a second family (five members affected) with a large (32 kb) deletion involving the alpha 1, alpha 2, psi alpha 1, psi alpha 2, psi zeta 1, and zeta-globin genes. This mutation has been previously described in Calabria, Italy, in a child and his mother and has been named alpha-thalassemia--)AL.
我们检测到了第二个家族（五名成员患病），其存在一个涉及α1、α2、ψα1、ψα2、ψζ1和ζ-珠蛋白基因的大片段（32 kb）缺失。这种突变此前在意大利的卡拉布里亚地区曾在一名儿童及其母亲身上被描述过，并被命名为α地中海贫血--AL。
