title: Region-specific genetic heterogeneity of HBB mutation distribution in South-Western Greece.
abstract: beta-Thalassemia (beta-thal), is caused by reduced or absent synthesis of beta-globin chains resulting in impaired erythropoiesis. It is the most common single gene defect disease in Greece, with heterozygous rates reaching, on average, 8% in the general population. Here, we performed molecular analyses on 199 unrelated beta-thal and compound beta-thal/sickle cell disease patients, of whom 157 originated from three prefectures of South-Western Greece, namely Achaia, Ilia and Etoloakarnania. Our results indicate that the frequency of specific HBB gene mutations, namely the HBB:c.118C>T (codon 39, C>T), HBB:c.92+6T>C (IVS-I-6, T>C), and HBB:c.20A>T [Hb S, beta6(A3)Glu-->Val, GAG>GTG], present distinct distribution patterns in the Achaia and Ilia prefectures (p < 0.001, p < 0.003 and p < 0.002, respectively). This detailed analysis of the distribution of the HBB gene mutations is useful for genetic counseling in the region, and illustrates that the identification of the HBB gene mutation spectrum in this region is necessary for population carrier screening and for efficient provision of prenatal diagnosis.
authors.affiliation: Molecular Genetics Unit, Department of General Biology, Faculty of Medicine, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece. apapacha@med.upatras.gr
authors.forename: Adamantia
authors.initials: A
authors.lastname: Papachatzopoulou
authors.forename: Alexandra
authors.initials: A
authors.lastname: Kourakli
authors.forename: Eleana F
authors.initials: EF
authors.lastname: Stavrou
authors.forename: Ekaterini
authors.initials: E
authors.lastname: Fragou
authors.forename: Apostolos
authors.initials: A
authors.lastname: Vantarakis
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
authors.forename: Aglaia
authors.initials: A
authors.lastname: Athanassiadou
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005817:Genetic Counseling; D018740:Genetic Heterogeneity; D005820:Genetic Testing; D005843:Geography; D006115:Greece / Q000453:epidemiology; D006801:Humans; D008297:Male; D009154:Mutation; D015995:Prevalence; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology
chemical_list: D055544:beta-Globins