Oner R, Oner C, Erdem G, Balkan H, Ozdağ H, Erkan M, Gümrük F, Gürgey A, Altay C
Department of Molecular Biology, Hacettepe University, Science Faculty, Beytepe, Turkey.
Acta Haematol. 1996;96(4):232-6. doi: 10.1159/000203790.
A new deletion of the beta-globin gene cluster was characterized in a Turkish family. A 6-year-old male and his father were heterozygotes for this deletion. They presented with mild hypochromic microcytic anemia associated with elevated Hb F (15%) and normal Hb A2 levels (2.0%). This newly described Turkish type (delta beta)(0) thalassemia has a deletion of about 30 kb. The 5' breakpoint of this deletion starts approximately 1.5 kb downstream of an enhancer-like sequence of the A gamma-globin gene. The 3' endpoint is located in the L1 repeat sequence (Kpnl site) 3' to the beta-globin gene. The new deletion (Turkish type 3) is quite similar to that of the Indian (delta beta)(0)-thalassemia deletion in size and 5' breakpoint. However, the 3' endpoint in this new deletion is 2.5 kb shorter than the Indian type.
在一个土耳其家庭中鉴定出一种新的β-珠蛋白基因簇缺失。一名6岁男性及其父亲是这种缺失的杂合子。他们表现为轻度低色素小细胞贫血，伴有Hb F升高（15%）和正常的Hb A2水平（2.0%）。这种新描述的土耳其型（δβ）0地中海贫血有大约30 kb的缺失。该缺失的5'断点起始于Aγ-珠蛋白基因增强子样序列下游约1.5 kb处。3'端点位于β-珠蛋白基因3'端的L1重复序列（Kpnl位点）中。新的缺失（土耳其型3）在大小和5'断点方面与印度（δβ）0地中海贫血缺失非常相似。然而，这种新缺失的3'端点比印度型短2.5 kb。
