title: Molecular heterogeneity of beta-thalassemia alleles in Spain and its importance in the diagnosis and prevention of beta-thalassemia major and sickle cell disorders.
abstract: 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 of beta-thal mutations. Seventy nine individuals were characterized at the molecular level. As a first step, frequent mutations in the Mediterranean region were screened and when none of these mutations were identified, the beta-globin gene was sequenced. Screening for common mutations allowed the characterization of 60 individuals. In the remaining 19 cases, 11 different mutations were identified. beta-Thalassemia heterogeneity in Spain has markedly increased, leading to the requirement of including new methods for genetic diagnosis. Prevention of beta-thal major and sickle cell disease are necessary since their prevalence in Spain is increasing dramatically.
authors: Red Cell Pathology Unit, Hospital Clinic i Provincial, University of Barcelona, Spain. mmanupe@gmail.com
authors: Maria del Mar Mañú
authors: Mdel M
authors: Pereira
authors: Anna Cabot
authors: AC
authors: Dalmau
authors: Joan-Lluis Vives
authors: JL
authors: Corrons
mesh_terms: D000483:Alleles; D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D018740:Genetic Heterogeneity; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D013030:Spain; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control
chemical_list: D055544:beta-Globins