Abstract |
This study reports the molecular characterization of thalassemia syndromes in Serbian and Montenegrin populations. We identified eight beta-thalassemia mutations [ codon 39 (C-->T), IVS-I-110 (G-->A), IVS-II-745 (C-->G), codon 44 (-C), -87 (C-->G), IVS-II-1 (G-->A), IVS-I-6 (T-->C), IVS I-1 (G-->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.
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Authors | S Pavlovic, J Urosevic, J Poznanic, L J Perisic, B Petrucev, N Tosic, L Krivokapic-Dokmanovic, D Janic, M Cvorkov-Drazic, G Bunjevacki |
Journal | Acta haematologica
(Acta Haematol)
Vol. 113
Issue 3
Pg. 175-80
( 2005)
ISSN: 0001-5792 [Print] Switzerland |
PMID | 15870487
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright (c) 2005 S. Karger AG, Basel. |
Chemical References |
- Codon
- Hemoglobins, Abnormal
- hemoglobin Lepore
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Topics |
- Codon
(genetics)
- DNA Mutational Analysis
- Female
- Haplotypes
(genetics)
- Hemoglobins, Abnormal
(genetics)
- Humans
- Male
- Point Mutation
- Polymerase Chain Reaction
- Yugoslavia
- beta-Thalassemia
(epidemiology, genetics)
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