title: [Molecular characterization of thalassemias in the Valencia community and its relationship with the hematological phenotype].
abstract: OBJECTIVE
  The aim of the study is to present the first results of molecular characterization of thalassaemias in Valencian Community and their relationship with the haematological parameters.
  
  
  METHODS
  The study includes 87 thalassemic patients: 30 alpha-thalassaemias, 40 beta-thalassaemias and 17 delta beta-thalassaemias. The molecular alterations were studied in white cell blood DNA, either following different PCR methods or by testing the digestion of the amplified PCR products with selective restriction enzymes.
  
  
  RESULTS
  The molecular characterization of beta-thalassaemias was achieved in 94% of the subjects, being the transition C-->T in CD-39 the most frequent (44%) of the mutations studied. 94% of the delta beta-thalassaemias studied corresponded to the delta beta-Spanish type. All the alpha thalassaemias characterized (64%) corresponded to the -alpha 3.7 deletion. The reamining 36% were negative for the alpha 0 deletions --MED, --20.5, or the non deletional mutations Hph I and NocI.
  
  
  CONCLUSIONS
  In the Valencian Community, like what has been described for the beta-thalassaemias in other Mediterranean regions of Spain (Barcelona, Granada and Mallorca), a high incidence in C-->T transition in CD-39 was observed, in contrast with central and south-western regions of Spain, where the G-->A IVS-I-1 is the most frequent mutation. Our study supports that the IVS-I-6 mutations is the one with lower repercussions on the haematological parameters. Our study confirms the Spanish type of delta beta-thalassaemia as the most frequent in the Valencian Community, and that the 3.7 kb alpha deletion is the most frequent mutation for the alpha-thalassaemia, although alpha thalassaemia is also the poorly characterized form of thalassaemia.
authors.affiliation: Servicio de Hematología, Hospital Universitario La Fe, Valencia.
authors.forename: M
authors.initials: M
authors.lastname: Pérez Sirvent
authors.forename: I
authors.initials: I
authors.lastname: Moreno Miralles
authors.forename: P
authors.initials: P
authors.lastname: Boluferx Gilabert
authors.forename: E
authors.initials: E
authors.lastname: Lerma Alejos
authors.forename: M A
authors.initials: MA
authors.lastname: Gómez Rejas
authors.forename: A
authors.initials: A
authors.lastname: Vayá Montaña
authors.forename: A
authors.initials: A
authors.lastname: Tascón Astigarraga
authors.forename: M A
authors.initials: MA
authors.lastname: Dasí Carpio
authors.forename: M
authors.initials: M
authors.lastname: Martínez Silvestre
authors.forename: A R
authors.initials: AR
authors.lastname: López Espinosa
authors.forename: L
authors.initials: L
authors.lastname: Hernández Mateo
authors.forename: R
authors.initials: R
authors.lastname: Gil Alfonso
mesh_terms: D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D013030:Spain / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: C052380:endodeoxyribonuclease NcoI; D015252:Deoxyribonucleases, Type II Site-Specific; C024412:GGTGA-specific type II deoxyribonucleases
vernacular_title: Caracterización molecular de las talasemias en la Comunidad Valenciana y su relación con el fenotipo hematológico.