Beta-thalassemia in Yugoslavia.
This study concerned the evaluation of beta-thalassemia alleles in nearly 50 patients with beta-thalassemia major and in 130 -thalassemia heterozygotes using gene amplification and dot-blot hybridization with synthetic probes. Fourteen different mutations were observed; of these, three (IVS-I-110; IVS-I-6; IVS-I-1) account for some 75% of all beta-thalassemia alleles. Newly discovered variants, i.e. T----C in the initiation codon and AATAAA----AATGAA in the poly A site were observed in a few patients. The poly A mutation with classical beta-thalassemia alleles result in thalassemia intermedia. Hb Lepore is a rather common abnormality and combinations of this variant with beta-thalassemia often result in severe disease; a search for beta-thalassemia mutations among patients affected with this disease should include an analysis to detect this hemoglobin abnormality.
Macedonian Academy of Sciences and Arts Research Center for New Technologies, Skopje, Yugoslavia.
A
A
Dimovski
D G
DG
Efremov
L
L
Jankovic
D
D
Juricic
N
N
Zisovski
N
N
Stojanovski
N
N
Nikolov
G T
GT
Petkov
A L
AL
Reese
T A
TA
Stoming
D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005796:Genes; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000150:complications; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D013789:Thalassemia / Q000150:complications / Q000453:epidemiology* / Q000235:genetics; D015022:Yugoslavia / Q000453:epidemiology
D006455:Hemoglobins, Abnormal; D005914:Globins