title: Thalassemia syndromes in Serbia: an update.
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 β-thalassemia (β-thal) mutations and two hemoglobin (Hb) variants were detected in 127 members of 68 families. Hb Lepore-Boston-Washington (Lepore-BW) (δ87Gln-β-IVS-II-8), a thalassemic Hb variant, was shown to be the most common cause of thalassemia in Serbia. Haplotype analyses of the β-globin gene clusters of healthy individuals as well as of individuals affected with β-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.
authors.affiliation: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia.
authors.forename: Milena
authors.initials: M
authors.lastname: Radmilovic
authors.forename: Branka
authors.initials: B
authors.lastname: Zukic
authors.forename: Biljana
authors.initials: B
authors.lastname: Stankovic
authors.forename: Teodora
authors.initials: T
authors.lastname: Karan-Djurasevic
authors.forename: Maja
authors.initials: M
authors.lastname: Stojiljkovic
authors.forename: Vesna
authors.initials: V
authors.lastname: Spasovski
authors.forename: Natasa
authors.initials: N
authors.lastname: Tosic
authors.forename: Lidija
authors.initials: L
authors.lastname: Dokmanovic
authors.forename: Dragana
authors.initials: D
authors.lastname: Janic
authors.forename: Sonja
authors.initials: S
authors.lastname: Pavlovic
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D055771:Serbia; D013577:Syndrome; D013789:Thalassemia / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D017931:DNA Primers; D055544:beta-Globins