title: Beta-thalassaemia in south-western Spain: high frequency of G-->A (IVS I-1) mutation.
abstract: Huelva province is situated in southwestern Spain; its historic and geographic characteristics contribute to the existence of erythrocyte genetic anomalies, such as beta thalassaemia. We have carried out a prenatal study of microcytosis, with a preliminary beta-gene analysis. Our findings show a beta-thalassaemia trait prevalence of 0.81%. In the molecular research there was a high frequency of G-->A (IVS I-1) injury: 55%. By comparing the rates of this mutation neighbouring Cáceres province in western Spain (47%) and Algarve in south Portugal (32%), it demonstrates that this beta-gene defect has a high frequency in the southwest of the Iberian Peninsula.
authors.affiliation: Unidad de Hematología, Hospital Infanta Elena, Huelva, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Benito
authors.forename: A
authors.initials: A
authors.lastname: Villegas
authors.forename: R
authors.initials: R
authors.lastname: Perez-Cano
authors.forename: R
authors.initials: R
authors.lastname: Bernal
mesh_terms: D002648:Child; D005821:Genetic Techniques; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D017354:Point Mutation; D011174:Portugal / Q000453:epidemiology; D015995:Prevalence; D013030:Spain / Q000453:epidemiology; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics
chemical_list: D005914:Globins