A Novel (Δβ)°-Thalassemia due to a ∼30-kb Deletion Observed in a Turkish Family

öner R., öner C., ERDEM G., Balkan H., ÖZDAĞ SEVGİLİ H., Erkan M., ...Daha Fazla

Acta Haematologica, cilt.96, sa.4, ss.232-236, 1996 (Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 96 Sayı: 4
  • Basım Tarihi: 1996
  • Doi Numarası: 10.1159/000203790
  • Dergi Adı: Acta Haematologica
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.232-236
  • Anahtar Kelimeler: δβ -Thalassemia, Gene deletion
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.