Molecular analysis of turkish beta-thalassemia heterozygotes with normal Hb A2 levels

Hemoglobin. 2000 Aug;24(3):195-201. doi: 10.3109/03630260008997527.


Four parents of three unrelated families who are obligatory beta-thalassemia heterozygotes and two parents with Hb Knossos are presented. In these subjects, although the red blood cell counts and red cell indices were compatible with beta-thalassemia trait, the Hb A2 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 (delta0) -7.2 kb Corfu type deletion, the (delta+) codon 27 (G-->T) and (delta0) IVS-I-2 (T-->C) mutations in trans or in cis with a severe beta-thalassemia allele, and the (delta0) codon 59 (-A) deletion in cis with the betaKnossos allele.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Hematologic Tests
  • Hemoglobin A2 / metabolism*
  • Hemoglobins, Abnormal / genetics
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Pedigree
  • Reference Values
  • Turkey / epidemiology
  • beta-Thalassemia / blood
  • beta-Thalassemia / epidemiology
  • beta-Thalassemia / genetics*


  • Hemoglobins, Abnormal
  • hemoglobin Knossos
  • Hemoglobin A2