Thalassemia syndromes in Serbia: an update
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2010
Authors
Radmilović MilenaZukić, Branka
Stanković, Biljana
Karan-Đurašević, Teodora
Stojiljković, Maja
Spasovski, Vesna
Tošić, Nataša
Dokmanović, Lidija
Janić, Dragana
Pavlović, Sonja
Article (Published version)
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Show full item recordAbstract
Thalassemia syndromes constitute a group of genetic disorders, widespread throughout the world. The present study contains data on thalassemia syndromes and their chromosomal environment obtained in Serbia over a period of 10 years. Ten different beta-thalassemia (beta-thal) mutations and two hemoglobin (Hb) variants were detected in 127 members of 68 families. Hb Lepore-Boston-Washington (Lepore-BW) (delta 87Gln-beta-IVS-II-8), a thalassemic Hb variant, was shown to be the most common cause of thalassemia in Serbia. Haplotype analyses of the beta-globin gene clusters of healthy individuals as well as of individuals affected with beta-thal showed that haplotype I was the most frequent haplotype in the Serbian population, followed by haplotypes II and IX. Two novel haplotypes were detected. Haplotype analyses showed the association between certain haplotypes and the most common thalassemic mutations. Results presented in this paper will update the Serbian national mutation database and ...contribute to a better understanding of genographic history of South European and Balkan populations.
Keywords:
Thalassemia / Serbia / Mutations / HaplotypesSource:
Hemoglobin, 2010, 34, 5, 477-485Publisher:
- Taylor & Francis Ltd, Abingdon
Funding / projects:
- Strukturalni elementi genoma u modulaciji fenotipa (RS-MESTD-MPN2006-2010-143051)
DOI: 10.3109/03630269.2010.513637
ISSN: 0363-0269
PubMed: 20854122
WoS: 000282891900009
Scopus: 2-s2.0-77956927784
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Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Radmilović Milena AU - Zukić, Branka AU - Stanković, Biljana AU - Karan-Đurašević, Teodora AU - Stojiljković, Maja AU - Spasovski, Vesna AU - Tošić, Nataša AU - Dokmanović, Lidija AU - Janić, Dragana AU - Pavlović, Sonja PY - 2010 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/401 AB - Thalassemia syndromes constitute a group of genetic disorders, widespread throughout the world. The present study contains data on thalassemia syndromes and their chromosomal environment obtained in Serbia over a period of 10 years. Ten different beta-thalassemia (beta-thal) mutations and two hemoglobin (Hb) variants were detected in 127 members of 68 families. Hb Lepore-Boston-Washington (Lepore-BW) (delta 87Gln-beta-IVS-II-8), a thalassemic Hb variant, was shown to be the most common cause of thalassemia in Serbia. Haplotype analyses of the beta-globin gene clusters of healthy individuals as well as of individuals affected with beta-thal showed that haplotype I was the most frequent haplotype in the Serbian population, followed by haplotypes II and IX. Two novel haplotypes were detected. Haplotype analyses showed the association between certain haplotypes and the most common thalassemic mutations. Results presented in this paper will update the Serbian national mutation database and contribute to a better understanding of genographic history of South European and Balkan populations. PB - Taylor & Francis Ltd, Abingdon T2 - Hemoglobin T1 - Thalassemia syndromes in Serbia: an update EP - 485 IS - 5 SP - 477 VL - 34 DO - 10.3109/03630269.2010.513637 ER -
@article{ author = "Radmilović Milena and Zukić, Branka and Stanković, Biljana and Karan-Đurašević, Teodora and Stojiljković, Maja and Spasovski, Vesna and Tošić, Nataša and Dokmanović, Lidija and Janić, Dragana and Pavlović, Sonja", year = "2010", abstract = "Thalassemia syndromes constitute a group of genetic disorders, widespread throughout the world. The present study contains data on thalassemia syndromes and their chromosomal environment obtained in Serbia over a period of 10 years. Ten different beta-thalassemia (beta-thal) mutations and two hemoglobin (Hb) variants were detected in 127 members of 68 families. Hb Lepore-Boston-Washington (Lepore-BW) (delta 87Gln-beta-IVS-II-8), a thalassemic Hb variant, was shown to be the most common cause of thalassemia in Serbia. Haplotype analyses of the beta-globin gene clusters of healthy individuals as well as of individuals affected with beta-thal showed that haplotype I was the most frequent haplotype in the Serbian population, followed by haplotypes II and IX. Two novel haplotypes were detected. Haplotype analyses showed the association between certain haplotypes and the most common thalassemic mutations. Results presented in this paper will update the Serbian national mutation database and contribute to a better understanding of genographic history of South European and Balkan populations.", publisher = "Taylor & Francis Ltd, Abingdon", journal = "Hemoglobin", title = "Thalassemia syndromes in Serbia: an update", pages = "485-477", number = "5", volume = "34", doi = "10.3109/03630269.2010.513637" }
Radmilović Milena, Zukić, B., Stanković, B., Karan-Đurašević, T., Stojiljković, M., Spasovski, V., Tošić, N., Dokmanović, L., Janić, D.,& Pavlović, S.. (2010). Thalassemia syndromes in Serbia: an update. in Hemoglobin Taylor & Francis Ltd, Abingdon., 34(5), 477-485. https://doi.org/10.3109/03630269.2010.513637
Radmilović Milena, Zukić B, Stanković B, Karan-Đurašević T, Stojiljković M, Spasovski V, Tošić N, Dokmanović L, Janić D, Pavlović S. Thalassemia syndromes in Serbia: an update. in Hemoglobin. 2010;34(5):477-485. doi:10.3109/03630269.2010.513637 .
Radmilović Milena, Zukić, Branka, Stanković, Biljana, Karan-Đurašević, Teodora, Stojiljković, Maja, Spasovski, Vesna, Tošić, Nataša, Dokmanović, Lidija, Janić, Dragana, Pavlović, Sonja, "Thalassemia syndromes in Serbia: an update" in Hemoglobin, 34, no. 5 (2010):477-485, https://doi.org/10.3109/03630269.2010.513637 . .