title: A novel (delta beta)(0)-thalassemia due to a approximately 30-kb deletion observed in a Turkish family.
abstract: 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.
authors.affiliation: Department of Molecular Biology, Hacettepe University, Science Faculty, Beytepe, Turkey.
authors.forename: R
authors.initials: R
authors.lastname: Oner
authors.forename: C
authors.initials: C
authors.lastname: Oner
authors.forename: G
authors.initials: G
authors.lastname: Erdem
authors.forename: H
authors.initials: H
authors.lastname: Balkan
authors.forename: H
authors.initials: H
authors.lastname: Ozdağ
authors.forename: M
authors.initials: M
authors.lastname: Erkan
authors.forename: F
authors.initials: F
authors.lastname: Gümrük
authors.forename: A
authors.initials: A
authors.lastname: Gürgey
authors.forename: C
authors.initials: C
authors.lastname: Altay
mesh_terms: D000328:Adult; D001345:Autoradiography; D002648:Child; D004262:DNA Restriction Enzymes / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D014421:Turkey; D017086:beta-Thalassemia / Q000145:classification / Q000235:genetics*
chemical_list: D004262:DNA Restriction Enzymes