A novel (delta beta)(0)-thalassemia due to a similar to 30-kb deletion observed in a Turkish family

Oner R., Oner C., Erdem G., Balkan H., ÖZDAĞ SEVGİLİ H., Erkan M., ...Daha Fazla

ACTA HAEMATOLOGICA, cilt.96, sa.4, ss.232-236, 1996 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 96 Sayı: 4
  • Basım Tarihi: 1996
  • Dergi Adı: ACTA HAEMATOLOGICA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.232-236
  • Anahtar Kelimeler: delta beta-thalassemia, gene deletion, DELTA-BETA-THALASSEMIA, GLOBIN GENE-CLUSTER, FETAL HEMOGLOBIN, HEREDITARY PERSISTENCE, BEGINS
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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 A(2) 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 enhancerlike sequence of the A gamma-globin gene. The 3' endpoint is located in the L1 repeat sequence (KpnI 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.