Beta-thalassemia in Bulgaria.
Analyses of DNA from 64 patients with thalassemia major using the hybridization technique of amplified DNA with radiolabeled synthetic oligonucleotide probes identified 13 different beta-thalassemia mutations. The codon 39 (C----T) and IVS-I-110 (G----A) mutations occurred most frequently but seven additional mutations were observed which were present at frequencies of 3.9 to 10.2%. This broad spectrum of beta-thalassemia alleles complicates the analyses for institutions involved in prenatal diagnosis. Promoter mutations were rare and the frequencies of two other mild mutations [IVS-I-6 (T----C) and the poly A mutation] were relatively low indicating that beta-thalassemia is a severe disease among Bulgarians. The high frequencies of 4.7-5.5% for the four frameshifts at codons 5, 6, 8, and 8/9 may be specific for this population.
Department of Pediatrics, Higher Medical Institute, Stara Zagora, Bulgaria.
G H
GH
Petkov
G D
GD
Efremov
D G
DG
Efremov
A
A
Dimovski
P
P
Tchaicarova
R
R
Tchaicarov
B
B
Rogina
S
S
Agarwal
A
A
Kutlar
F
F
Kutlar
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002031:Bulgaria / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000150:complications; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D011401:Promoter Regions, Genetic; D013789:Thalassemia / Q000150:complications / Q000453:epidemiology* / Q000235:genetics
D006455:Hemoglobins, Abnormal; D005914:Globins