Acta Haematologica

Original Paper

Molecular Basis of Thalassemia Syndromes in Serbia and Montenegro

Pavlovic S.a · Urosevic J.a · Poznanic J.a · Perisic L.J.a · Petrucev B.a · Tosic N.a · Krivokapic-Dokmanovic L.b · Janic D.b · Cvorkov-Drazic M.c · Bunjevacki G.c

Author affiliations

aInstitute of Molecular Genetics and Genetic Engineering, bUniversity Children’s Hospital, cMother and Child Health Care Institute of Serbia ‘Dr. Vukan Cupic’, Belgrade, Serbia and Montenegro

Keywords: HaplotypeHb LeporeHb variantsThalassemia

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Acta Haematol 2005;113:175–180
https://doi.org/10.1159/000084447

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: February 16, 2004
Accepted: June 30, 2004
Published online: May 02, 2005
Issue release date: April 2005

Number of Print Pages: 6
Number of Figures: 0
Number of Tables: 3

ISSN: 0001-5792 (Print)
eISSN: 1421-9662 (Online)

For additional information: https://www.karger.com/AHA

Abstract

This study reports the molecular characterization of thalassemia syndromes in Serbian and Montenegrin populations. We identified eight β-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 α-thalassemia were detected as well. We also studied β-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.

© 2005 S. Karger AG, Basel



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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: February 16, 2004
Accepted: June 30, 2004
Published online: May 02, 2005
Issue release date: April 2005

Number of Print Pages: 6
Number of Figures: 0
Number of Tables: 3

ISSN: 0001-5792 (Print)
eISSN: 1421-9662 (Online)

For additional information: https://www.karger.com/AHA

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