Scientific reports · 2016
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
СтатьяНазвание и аннотация: Перевод в очереди
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Kountouris Petros, Kousiappa Ioanna, Papasavva Thessalia, Christopoulos George, Pavlou Eleni, Petrou Miranda, Feleki Xenia, Karitzie Eleni, Phylactides Marios, Fanis Pavlos, Lederer Carsten W, Kyrri Andreani R, Kalogerou Eleni, Makariou Christiana, Ioannou Christiana, Kythreotis Loukas, Hadjilambi Georgia, Andreou Nicoletta, Pangalou Evangelia, Savvidou Irene, Angastiniotis Michael, Hadjigavriel Michael, Sitarou Maria, Kolnagou Annita, Kleanthous Marina, Christou Soteroula
Аннотация
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.