Beta-thalassemia in Yugoslavia |
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Authors: | A Dimovski D G Efremov L Jankovic D Juricic N Zisovski N Stojanovski N Nikolov G T Petkov A L Reese T A Stoming |
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Affiliation: | Macedonian Academy of Sciences and Arts Research Center for New Technologies, Skopje, Yugoslavia. |
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Abstract: | 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. |
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