title: The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
abstract: Haemoglobinopathies are the most common monogenic diseases, posing a major public health challenge worldwide. Cyprus has one the highest prevalences of thalassaemia in the world and has been the first country to introduce a successful population-wide prevention programme, based on premarital screening. In this study, we report the most significant and comprehensive update on the status of haemoglobinopathies in Cyprus for at least two decades. First, we identified and analysed all known 592 β-thalassaemia patients and 595 Hb H disease patients in Cyprus. Moreover, we report the molecular spectrum of α-, β- and δ-globin gene mutations in the population and their geographic distribution, using a set of 13824 carriers genotyped from 1995 to 2015, and estimate relative allele frequencies in carriers of β- and δ-globin gene mutations. Notably, several mutations are reported for the first time in the Cypriot population, whereas important differences are observed in the distribution of mutations across different districts of the island.
authors.affiliation: Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.
authors.forename: Petros
authors.initials: P
authors.lastname: Kountouris
authors.affiliation: Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.
authors.forename: Ioanna
authors.initials: I
authors.lastname: Kousiappa
authors.affiliation: Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.
authors.forename: Thessalia
authors.initials: T
authors.lastname: Papasavva
authors.affiliation: Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.
authors.forename: George
authors.initials: G
authors.lastname: Christopoulos
authors.affiliation: Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.
authors.forename: Eleni
authors.initials: E
authors.lastname: Pavlou
authors.affiliation: Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.
authors.forename: Miranda
authors.initials: M
authors.lastname: Petrou
authors.affiliation: Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.
authors.forename: Xenia
authors.initials: X
authors.lastname: Feleki
authors.affiliation: Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.
authors.forename: Eleni
authors.initials: E
authors.lastname: Karitzie
authors.affiliation: Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.
authors.forename: Marios
authors.initials: M
authors.lastname: Phylactides
authors.affiliation: Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.
authors.forename: Pavlos
authors.initials: P
authors.lastname: Fanis
authors.affiliation: Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.
authors.forename: Carsten W
authors.initials: CW
authors.lastname: Lederer
authors.affiliation: Thalassemia Screening Laboratory, Thalassemia Center, Archbishop Makarios III Hospital, 1474 Nicosia, Cyprus.
authors.forename: Andreani R
authors.initials: AR
authors.lastname: Kyrri
authors.affiliation: Thalassemia Screening Laboratory, Thalassemia Center, Archbishop Makarios III Hospital, 1474 Nicosia, Cyprus.
authors.forename: Eleni
authors.initials: E
authors.lastname: Kalogerou
authors.affiliation: Thalassemia Screening Laboratory, Thalassemia Center, Archbishop Makarios III Hospital, 1474 Nicosia, Cyprus.
authors.forename: Christiana
authors.initials: C
authors.lastname: Makariou
authors.affiliation: Thalassemia Screening Laboratory, Thalassemia Center, Archbishop Makarios III Hospital, 1474 Nicosia, Cyprus.
authors.forename: Christiana
authors.initials: C
authors.lastname: Ioannou
authors.affiliation: Thalassemia Screening Laboratory, Thalassemia Center, Archbishop Makarios III Hospital, 1474 Nicosia, Cyprus.
authors.forename: Loukas
authors.initials: L
authors.lastname: Kythreotis
authors.affiliation: Thalassemia Screening Laboratory, Thalassemia Center, Archbishop Makarios III Hospital, 1474 Nicosia, Cyprus.
authors.forename: Georgia
authors.initials: G
authors.lastname: Hadjilambi
authors.affiliation: Thalassemia Screening Laboratory, Thalassemia Center, Archbishop Makarios III Hospital, 1474 Nicosia, Cyprus.
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Andreou
authors.affiliation: Thalassemia Center, Archbishop Makarios III Hospital, 1474 Nicosia, Cyprus.
authors.forename: Evangelia
authors.initials: E
authors.lastname: Pangalou
authors.affiliation: Thalassemia Center, Archbishop Makarios III Hospital, 1474 Nicosia, Cyprus.
authors.forename: Irene
authors.initials: I
authors.lastname: Savvidou
authors.affiliation: Thalassaemia International Federation, 31 Ifigeneias Street, 2007 Strovolos, Nicosia, Cyprus.
authors.forename: Michael
authors.initials: M
authors.lastname: Angastiniotis
authors.affiliation: Thalassemia Center, Limassol General Hospital, 3304 Limassol, Cyprus.
authors.forename: Michael
authors.initials: M
authors.lastname: Hadjigavriel
authors.affiliation: Thalassemia Center, Larnaca General Hospital, 6301 Larnaca, Cyprus.
authors.forename: Maria
authors.initials: M
authors.lastname: Sitarou
authors.affiliation: Thalassemia Center, Paphos General Hospital, 8100 Paphos, Cyprus.
authors.forename: Annita
authors.initials: A
authors.lastname: Kolnagou
authors.affiliation: Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.
authors.forename: Marina
authors.initials: M
authors.lastname: Kleanthous
authors.affiliation: Thalassemia Center, Archbishop Makarios III Hospital, 1474 Nicosia, Cyprus.
authors.forename: Soteroula
authors.initials: S
authors.lastname: Christou
mesh_terms: D000293:Adolescent; D000328:Adult; D002353:Carrier State / Q000453:epidemiology; D003535:Cyprus / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D006453:Hemoglobinopathies / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D012189:Retrospective Studies; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*; D055546:delta-Globins / Q000235:genetics*
chemical_list: D055542:alpha-Globins; D055544:beta-Globins; D055546:delta-Globins