Scanning of beta-globin gene for identification of beta-thalassemia mutation in Romanian population.

doi:10.1111/j.1582-4934.2004.tb00278.x

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Article

Scanning of beta-globin gene for identification of beta-thalassemia mutation in Romanian population.

Journal of cellular and molecular medicine - 1 Jan 2000

Talmaci R, Traeger-Synodinos J, Kanavakis E, Coriu D, Colita D, Gavrila L

Abstract excerpt

Beta-thalassemia is uncommon (0.5%) in the Romanian population, but it must be considered in the differential diagnosis of hypochromic anemia. The molecular characterization of beta-thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study in this region. Molecular analyses consist of mutation detection by molecular scanning of beta-globin gene. This gene has 3...

Topics

Adolescent
Adult
Alleles
Child
DNA Mutational Analysis
Electrophoresis
Globins
Homozygote
Humans
Italy
Middle Aged
Mutation
Polymorphism, Restriction Fragment Length
Romania
beta-Thalassemia

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Identifiers

PMID: 15256071
DOI: 10.1111/j.1582-4934.2004.tb00278.x
PMCID: PMC6740280

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