Molecular analysis of Turkish beta-thalassemia heterozygotes with normal Hb A(2) levels

Oner R., Birben E., Acar C., Oner C., Kara A., Gumruk F., ...More

HEMOGLOBIN, vol.24, no.3, pp.195-201, 2000 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 3
  • Publication Date: 2000
  • Doi Number: 10.3109/03630260008997527
  • Journal Name: HEMOGLOBIN
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.195-201
  • Hacettepe University Affiliated: Yes

Abstract

Four parents of three unrelated families who are obligatory beta-thalassemia heterozygotes and two parents with uh Knossos are presented. In these subjects, although the red blood cell counts and red cell indices were compatible with beta-thalassemia trait, the Hb A(2) values were between 1.9-2.9% of the total hemoglobin. Examination of the delta-globin gene by Southern blot, restriction endonuclease analysis, and by direct sequencing of amplified DNA revealed the presence of the (delta(0)) -7.2 kb Corfu type deletion, the (delta(+)) codon 27 (G-->T) and (delta(0)) IVS-I-2 (T-->C) mutations in trans or in cis with a severe beta-thalassemia allele, and the (delta(0)) codon 59 (-A) deletion in cis with the beta(Knossos) allele.