Characterization of a rare single alpha-globin gene deletion in a Chinese woman with Hb H disease.
Characterization of a rare single alpha-globin gene deletion in a Chinese woman with Hb H disease.
复制标题
DOI：
--
复制
发表时间：
2005
期刊：
影响因子：
1
通讯作者：
B. Eng;Robert Walsh;Lynda Walker;M. Patterson;J. Waye
中科院分区：
文献类型：
--
作者：
B. Eng;Robert Walsh;Lynda Walker;M. Patterson;J. Waye
一名患有血红蛋白H（β4）病的中国患者被发现是2.4kbα（+）-地中海贫血（地贫）缺失和常见的东南亚α0 -地中海贫血缺失的复合杂合子。通过对缺失连接点的序列分析确定了2.4kb缺失的端点。该缺失去除了整个α1 -珠蛋白基因，而α2 -珠蛋白基因完整无缺。
A Chinese patient with Hb H (beta4) disease was found to be a compound heterozygote for a 2.4 kb alpha(+)-thalassemia (thal) deletion and the common Southeast Asian alpha0-thal deletion. The endpoints of the 2.4 kb deletion were identified by sequence analysis of the deletion junction. The deletion removes the entire alpha1-globin gene and leaves the alpha2-globin gene intact.