A 65 bp duplication/insertion in exon II of the β globin gene causing β0-thalassemia

被引：5
作者：
Frischknecht, Hannes [1 ]
Dutly, Fabrizio [1 ]
机构：
[1] Inst Med & Mol Diagnost Ltd, Rautistr 13, Zurich, Switzerland
来源：
HAEMATOLOGICA | 2007年 / 92卷 / 03期
关键词：
duplication/insertion; beta-thalassemia;
D O I：
10.3324/haematol.10785
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
We describe a patient originating from Ghana who had combined heterozygous -alpha(4.2) thalassemia, alpha alpha alpha(anti3.7) triplication, the common delta globin variant HbA(2)' and a new 65 bp duplication/insertion in exon II of the beta globin gene causing beta(0)-thalassemia.
引用
收藏
页码：423 / 424
页数：2
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