title: [Frequency of molecular alterations in heterozygous beta-thalassemia in southern Spain and their relation to the hematologic phenotype].
abstract: BACKGROUND
  Heterozygous beta-thalassemia manifests hematologically with microcytosis, reduced red blood cell hemoglobin concentration and high hemoglobin A2 levels. Almost all molecular alterations are due to point mutations. We attempt to determinate the frequency of that mutations in the Oriental Andalusia Area, and its relationship with the hematological phenotype.
  
  
  METHODS
  We have studied 45 heterozygous patients. DNA samples were amplified by PCR, using the printers CD7 and HI1. A 16 Kb fragment corresponding to beta globin gene was obtained and analyzed by Dot Blot assay and hybridized with allelic specific oligonucleotide (ASO) probes to detect the 6 more frequent mutations found in the South of Spain.
  
  
  RESULTS
  Codon 39 nonsense mutation (31.1%) was the most frequent finding followed by IVS-1 NT 110 (26.7%). The relationship between hematological parameters and molecular mutations concluded that IVS-I NT 6 mutation developed a minimal anemia.
  
  
  CONCLUSIONS
  From the practical point of view, this study indicates that we were able to detect more than 90% of heterozygous beta-tal. with 5 out of 6 ASO probes used in this work. Thus, our data also provides a further implication in prenatal diagnosis.
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Virgen de las Nieves.
authors.forename: M A
authors.initials: MA
authors.lastname: Molina
authors.forename: M J
authors.initials: MJ
authors.lastname: Romero
authors.forename: E
authors.initials: E
authors.lastname: Abril
authors.forename: I
authors.initials: I
authors.lastname: Delgado
authors.forename: R M
authors.initials: RM
authors.lastname: Cano
authors.forename: F
authors.initials: F
authors.lastname: Garrido
authors.forename: J M
authors.initials: JM
authors.lastname: de Pablos
authors.forename: M L
authors.initials: ML
authors.lastname: Garrido
mesh_terms: D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013030:Spain / Q000453:epidemiology; D017086:beta-Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
chemical_list: D003062:Codon; D005914:Globins
vernacular_title: Frecuencia de las alteraciones moleculares de la beta-talasemia heterocigota en el sur de España y su relación con el fenotipo hematológico.