两个西班牙家庭中的α地中海贫血
Alpha thalassaemia in two Spanish families.
作者信息
Villegas A, Calero F, Vickers M A, Ayyub H, Higgs D R
机构信息
Instituto Nacional de la Salud, Hospital Universitario San Carlos, Ciudad Universitaria, Madrid, Spain.
出版信息
Eur J Haematol. 1990 Feb;44(2):109-15.
Two Spanish families with alpha thalassaemia, including 4 individuals with Hb H disease, are described. DNA mapping shows that, in addition to the common alpha thalassaemia determinant (-alpha 3.7), a different and previously unreported allele is present in each family. In one, there is a deletion of 10.5-12 kb of DNA including both alpha genes (--SPAN). In the other, a deletion of more than 100 kb has removed the entire alpha globin gene complex (--BR).
本文描述了两个患有α地中海贫血的西班牙家庭，其中包括4名Hb H病患者。DNA图谱显示，除了常见的α地中海贫血决定簇（-α3.7）外，每个家庭中还存在一个不同的且此前未报道过的等位基因。在一个家庭中，有一段10.5 - 12 kb的DNA缺失，包括两个α基因（--SPAN）。在另一个家庭中，超过100 kb的缺失移除了整个α珠蛋白基因复合体（--BR）。
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