A Novel (Δβ)°-Thalassemia due to a ∼30-kb Deletion Observed in a Turkish Family
Acta Haematologica, vol.96, no.4, pp.232-236, 1996 (Scopus)
- Publication Type: Article / Article
- Volume: 96 Issue: 4
- Publication Date: 1996
- Doi Number: 10.1159/000203790
- Journal Name: Acta Haematologica
- Journal Indexes: Scopus
- Page Numbers: pp.232-236
- Keywords: δβ -Thalassemia, Gene deletion
- Hacettepe University Affiliated: Yes
Abstract
A new deletion of the β-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 (Δβ)°-thalassemia has a deletion of about 30 kb. The 5’ breakpoint of this deletion starts approximately 1.5 kb downstream of an enhancerlike sequence of the AΓ-globin gene. The 3’ endpoint is located in the L1 repeat sequence (KpnI site) 3’ to the β-globin gene. The new deletion (Turkish type 3) is quite similar to that of the Indian (Δβ)°-thalassemia deletion in size and 5’ breakpoint. However, the 3’ endpoint in this new deletion is 2.5 kb shorter than the Indian type. © 1996 S. Karger AG, Basel.