Article
Molecular characterization of beta-thalassemia in Syria.
Hemoglobin - 1 Feb 2000
Kyriacou K, Al Quobaili F, Pavlou E, Christopoulos G, Ioannou P, Kleanthous M
Abstract excerpt
This study concerns the determination of beta-thalassemia alleles and other hemoglobin variants in 82 patients from Syria. We have characterized 146 chromosomes and found 17 different beta-thalassemia mutations, and one beta-globin chain variant that gives rise to the abnormal Hb S. The eight most common beta-thalassemia mutations were the IVS-I-110 (G-->A), IVS-I-1 (G-->A), codon 5 (-CT), -30 (T-->A), codon 39...
Topics
- Adolescent
- Alleles
- Amino Acid Substitution
- Blood Transfusion
- Child
- Child, Preschool
- Cyprus
- DNA Mutational Analysis
- Frameshift Mutation
- Gene Frequency
- Genotype
- Hemoglobins, Abnormal