title: [Molecular characterization of heterozygous beta-thalassemia in Lanzarote, Spain].
abstract: OBJECTIVE
  The aim of this study was to determine the molecular defects of heterozygous beta thalassaemia and to ascertain their distribution in Lanzarote.
  
  
  METHODS
  Molecular characterization was achieved by real time polymerase chain reaction (RT-PCR LightCycler, Roche), PCR-ARMS (PCR-amplification reaction mutations system) and DNA sequencing on an automated DNA sequencer.
  
  
  RESULTS
  Two hundred forty-three heterozygous beta thalassaemia carriers were included between July 1991 and February 2007. RT-PCR detected the molecular defect in 81% of the beta thalassaemia chromosomes analyzed [113 codon CD 39 (C --> T); 41 IVS-1-nt-110 (G --> A), 25 IVS 1-nt-1 (G --> A) and 19 IVS 1-nt-6 (T --> C)]. The remaining 12 molecular defects included the deletion 619 bp (7.8%) and the mutations -28 (A --> G), IVS1-nt-2 (T --> G), CD 41/42 (-TTCT), CD 8/9 (+G), CD 51 (-C), CD 22 (G --> T) and CD 24 (T --> A), CD 67 (-TG) and the novel mutation CD 20/21-TGGA.
  
  
  CONCLUSIONS
  The distribution of the mutations is similar to that found in the Mediterranean area. The increasing migratory flow received in the Canary Islands may explain the emergence of new mutations not reported before in our area.
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital General de Lanzarote, Arrecife, Las Palmas, España. jmcvillas@hotmail.com
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Calvo-Villas
authors.forename: Silvia
authors.initials: S
authors.lastname: de la Iglesia Iñigo
authors.forename: Paloma
authors.initials: P
authors.lastname: Ropero Gradilla
authors.forename: María Francisca
authors.initials: MF
authors.lastname: Zapata Ramos
authors.forename: Jorge
authors.initials: J
authors.lastname: Cuesta Tovar
authors.forename: Francisco
authors.initials: F
authors.lastname: Sicilia Guillén
mesh_terms: D002391:Catchment Area, Health; D003430:Cross-Sectional Studies; D016368:Frameshift Mutation / Q000235:genetics; D017353:Gene Deletion; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D015995:Prevalence; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013030:Spain / Q000453:epidemiology; D017086:beta-Thalassemia / Q000097:blood / Q000453:epidemiology* / Q000235:genetics*