TY  - JOUR
AU  - Pavlović, Sonja
AU  - Urosević, J
AU  - Poznanić, J
AU  - Perisić, LJ
AU  - Petručev, Branka
AU  - Tošić, Nataša
AU  - Krivokapić-Dokmanović, L
AU  - Janić, D
AU  - Cvorkov-Drazić, M
AU  - Bunjevacki, G
PY  - 2005
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/226
AB  - This study reports the molecular characterization of thalassemia syndromes in Serbian and Montenegrin populations. We identified eight beta-thalassemia mutations [codon 39 (C - gt  T), IVS-I-110 (G - gt  A), IVS-II-745 (C - gt  G), codon 44 (-C), -87 (C - gt  G), IVS-II-1 (G - gt  A), IVS-I-6 (T - gt  C), IVS I-1 (G - gt  A)] in 70 members of 29 families using polymerase chain reaction, reverse dot blot, amplification refractory mutation system and direct sequencing analysis. Hemoglobin (Hb) Lepore was found to be the most common cause of the thalassemia phenotype. Hb Sabine and alpha-thalassemia were detected as well. We also studied beta-globin gene cluster haplotypes and their association with the most common mutations. A novel haplotype associated with the Hb Lepore gene was identified. The results presented herein allowed the implementation of a prenatal diagnosis program in Serbia and Montenegro.
PB  - Karger, Basel
T2  - Acta Haematologica
T1  - Molecular basis of Thalassemia syndromes in Serbia and Montenegro
EP  - 180
IS  - 3
SP  - 175
VL  - 113
DO  - 10.1159/000084447
ER  - 

@article{
author = "Pavlović, Sonja and Urosević, J and Poznanić, J and Perisić, LJ and Petručev, Branka and Tošić, Nataša and Krivokapić-Dokmanović, L and Janić, D and Cvorkov-Drazić, M and Bunjevacki, G",
year = "2005",
abstract = "This study reports the molecular characterization of thalassemia syndromes in Serbian and Montenegrin populations. We identified eight beta-thalassemia mutations [codon 39 (C - gt  T), IVS-I-110 (G - gt  A), IVS-II-745 (C - gt  G), codon 44 (-C), -87 (C - gt  G), IVS-II-1 (G - gt  A), IVS-I-6 (T - gt  C), IVS I-1 (G - gt  A)] in 70 members of 29 families using polymerase chain reaction, reverse dot blot, amplification refractory mutation system and direct sequencing analysis. Hemoglobin (Hb) Lepore was found to be the most common cause of the thalassemia phenotype. Hb Sabine and alpha-thalassemia were detected as well. We also studied beta-globin gene cluster haplotypes and their association with the most common mutations. A novel haplotype associated with the Hb Lepore gene was identified. The results presented herein allowed the implementation of a prenatal diagnosis program in Serbia and Montenegro.",
publisher = "Karger, Basel",
journal = "Acta Haematologica",
title = "Molecular basis of Thalassemia syndromes in Serbia and Montenegro",
pages = "180-175",
number = "3",
volume = "113",
doi = "10.1159/000084447"
}

Pavlović, S., Urosević, J., Poznanić, J., Perisić, L., Petručev, B., Tošić, N., Krivokapić-Dokmanović, L., Janić, D., Cvorkov-Drazić, M.,& Bunjevacki, G.. (2005). Molecular basis of Thalassemia syndromes in Serbia and Montenegro. in Acta Haematologica
Karger, Basel., 113(3), 175-180.
https://doi.org/10.1159/000084447

Pavlović S, Urosević J, Poznanić J, Perisić L, Petručev B, Tošić N, Krivokapić-Dokmanović L, Janić D, Cvorkov-Drazić M, Bunjevacki G. Molecular basis of Thalassemia syndromes in Serbia and Montenegro. in Acta Haematologica. 2005;113(3):175-180.
doi:10.1159/000084447 .

Pavlović, Sonja, Urosević, J, Poznanić, J, Perisić, LJ, Petručev, Branka, Tošić, Nataša, Krivokapić-Dokmanović, L, Janić, D, Cvorkov-Drazić, M, Bunjevacki, G, "Molecular basis of Thalassemia syndromes in Serbia and Montenegro" in Acta Haematologica, 113, no. 3 (2005):175-180,
https://doi.org/10.1159/000084447 . .

TY  - JOUR
AU  - Urosević, J.
AU  - Đureinović, T.
AU  - Poznanić, J.
AU  - Cvorkov-Drazić, M.
AU  - Bunjevacki, G.
AU  - Janić, D.
AU  - Krivokapić-Dokmanović, L.
AU  - Popović, Z.
AU  - Pavlović, Sonja
PY  - 2001
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/152
AB  - Screening analysis of Yugoslav patients with suspected thalassemia syndromes in last 4 years revealed six patients who were Hb Lepore carriers. Three were compound heterozygotes for Hb Lepore and β-thalassemia, and they were affected with a thalassemia major syndrome. Family studies revealed 12 heterozygous relatives. All heterozygous carriers of Hb Lepore had a clinical phenotype of thalassemia trait. The detection of Hb Lepore was carried out by electrophoresis on cellulose acetate and confirmed by gap-polymerase chain reaction analysis of patients' DNA. Sequence analysis of all the Hb Lepore genes showed the same DNA sequence, indicating that the mutation was of the Hb Lepore-Boston-Washington type. Moreover, a single base substitution within the second intervening sequence [IVS-II-74 (G→T)] was detected in all analyzed hybrid genes. The molecular characteristics of this homogeneity represent additional data for the probable Balkan origin of this mutation.
PB  - Macedonian Academy Of Sciences And Arts
T2  - Balkan Journal of Medical Genetics
T1  - Homogeneity of the Hb Lepore gene in FR Yugoslavia
EP  - 32
IS  - 1-2
SP  - 29
VL  - 4
UR  - https://hdl.handle.net/21.15107/rcub_imagine_152
ER  - 

@article{
author = "Urosević, J. and Đureinović, T. and Poznanić, J. and Cvorkov-Drazić, M. and Bunjevacki, G. and Janić, D. and Krivokapić-Dokmanović, L. and Popović, Z. and Pavlović, Sonja",
year = "2001",
abstract = "Screening analysis of Yugoslav patients with suspected thalassemia syndromes in last 4 years revealed six patients who were Hb Lepore carriers. Three were compound heterozygotes for Hb Lepore and β-thalassemia, and they were affected with a thalassemia major syndrome. Family studies revealed 12 heterozygous relatives. All heterozygous carriers of Hb Lepore had a clinical phenotype of thalassemia trait. The detection of Hb Lepore was carried out by electrophoresis on cellulose acetate and confirmed by gap-polymerase chain reaction analysis of patients' DNA. Sequence analysis of all the Hb Lepore genes showed the same DNA sequence, indicating that the mutation was of the Hb Lepore-Boston-Washington type. Moreover, a single base substitution within the second intervening sequence [IVS-II-74 (G→T)] was detected in all analyzed hybrid genes. The molecular characteristics of this homogeneity represent additional data for the probable Balkan origin of this mutation.",
publisher = "Macedonian Academy Of Sciences And Arts",
journal = "Balkan Journal of Medical Genetics",
title = "Homogeneity of the Hb Lepore gene in FR Yugoslavia",
pages = "32-29",
number = "1-2",
volume = "4",
url = "https://hdl.handle.net/21.15107/rcub_imagine_152"
}

Urosević, J., Đureinović, T., Poznanić, J., Cvorkov-Drazić, M., Bunjevacki, G., Janić, D., Krivokapić-Dokmanović, L., Popović, Z.,& Pavlović, S.. (2001). Homogeneity of the Hb Lepore gene in FR Yugoslavia. in Balkan Journal of Medical Genetics
Macedonian Academy Of Sciences And Arts., 4(1-2), 29-32.
https://hdl.handle.net/21.15107/rcub_imagine_152

Urosević J, Đureinović T, Poznanić J, Cvorkov-Drazić M, Bunjevacki G, Janić D, Krivokapić-Dokmanović L, Popović Z, Pavlović S. Homogeneity of the Hb Lepore gene in FR Yugoslavia. in Balkan Journal of Medical Genetics. 2001;4(1-2):29-32.
https://hdl.handle.net/21.15107/rcub_imagine_152 .

Urosević, J., Đureinović, T., Poznanić, J., Cvorkov-Drazić, M., Bunjevacki, G., Janić, D., Krivokapić-Dokmanović, L., Popović, Z., Pavlović, Sonja, "Homogeneity of the Hb Lepore gene in FR Yugoslavia" in Balkan Journal of Medical Genetics, 4, no. 1-2 (2001):29-32,
https://hdl.handle.net/21.15107/rcub_imagine_152 .