A novel (delta beta)(0)-thalassemia due to a approximately 30-kb deletion observed in a Turkish family.
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.
Oner
R
R
Department of Molecular Biology, Hacettepe University, Science Faculty, Beytepe, Turkey.
Oner
C
C
Erdem
G
G
Balkan
H
H
Ozdağ
H
H
Erkan
M
M
Gümrük
F
F
Gürgey
A
A
Altay
C
C
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*
D004262:DNA Restriction Enzymes