Molecular analysis of turkish beta-thalassemia heterozygotes with normal Hb A2 levels.
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.
Oner
R
R
Hacettepe University, Faculty of Science, Department of Biology, Beytepe, Ankara, Turkey. roner@hacettepe.edu.tr
Birben
E
E
Acar
C
C
Oner
C
C
Kara
A
A
Gümrük
F
F
Gürgey
A
A
Altay
C
C
D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006403:Hematologic Tests; D006443:Hemoglobin A2 / Q000378:metabolism*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012016:Reference Values; D014421:Turkey / Q000453:epidemiology; D017086:beta-Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C036232:hemoglobin Knossos; D006443:Hemoglobin A2