title: Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country.
abstract: We have undertaken a large population screening study to identify the molecular basis of hemoglobinopathies in the central Greece region. A total of 845 unrelated beta-thalassemia patients and alpha-, beta-, and deltabeta-thalassemia carriers have been recruited and screened for mutations in the alpha- and beta-globin gene clusters. The alpha(-MED) deletion and the Turkish inversion/deletion are the most frequent genetic rearrangements leading to alpha- and deltabeta-thalassemia respectively, contrary to the situation in the rest of the country, while the beta -101 (C>T) promoter mutation is surprisingly frequent in the central part of Greece. Our data indicate that determination of mutation frequencies in different regions is vital for accurate provision of genetic services and counseling and for precise estimation of genetic diversity.
authors.affiliation: Department of Biology, School of Medicine, University of Thessaly, Larissa, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Samara
authors.forename: Ioanna
authors.initials: I
authors.lastname: Chiotoglou
authors.forename: Angelos
authors.initials: A
authors.lastname: Kalamaras
authors.forename: Sophia
authors.initials: S
authors.lastname: Likousi
authors.forename: Christos
authors.initials: C
authors.lastname: Chassanidis
authors.forename: Andromahi
authors.initials: A
authors.lastname: Vagena
authors.forename: Christos
authors.initials: C
authors.lastname: Vagenas
authors.forename: Eftichios
authors.initials: E
authors.lastname: Eftichiadis
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Vamvakopoulos
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
authors.forename: Panagoula
authors.initials: P
authors.lastname: Kollia
mesh_terms: D004252:DNA Mutational Analysis; D006115:Greece / Q000453:epidemiology; D006453:Hemoglobinopathies / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009154:Mutation / Q000235:genetics*; D013789:Thalassemia / Q000235:genetics