Molecular heterogeneity of beta-thalassemia alleles in Spain and its importance in the diagnosis and prevention of beta-thalassemia major and sickle cell disorders.

doi:10.1080/03630260903089003

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Article

Molecular heterogeneity of beta-thalassemia alleles in Spain and its importance in the diagnosis and prevention of beta-thalassemia major and sickle cell disorders.

Hemoglobin - 1 Jan 2009

Pereira Maria del Mar Mañú, Dalmau Anna Cabot, Corrons Joan-Lluis Vives

Abstract excerpt

In the last 20 years, migratory flows have changed the pattern of beta-thalassemia (beta-thal) mutations in Catalonia and have also increased beta(S) prevalence, either alone or in association with beta-thal alleles. Characterization of the beta gene is needed for genetic counseling for beta-thal major and also for sickle cell diseases. The purpose of this study was to investigate the current distribution pattern...

Topics

Alleles
Anemia, Sickle Cell
DNA Mutational Analysis
Gene Frequency
Genetic Heterogeneity
Genetic Testing
Humans
Mutation
Spain
beta-Globins
beta-Thalassemia

Source

Open in PubMed

Identifiers

PMID: 19657837
DOI: 10.1080/03630260903089003

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