The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
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ABSTRACT:
SUBMITTER: Kountouris P
PROVIDER: S-EPMC4873807 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
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The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
Kountouris Petros P Kousiappa Ioanna I Papasavva Thessalia T Christopoulos George G Pavlou Eleni E Petrou Miranda M Feleki Xenia X Karitzie Eleni E Phylactides Marios M Fanis Pavlos P Lederer Carsten W CW Kyrri Andreani R AR Kalogerou Eleni E Makariou Christiana C Ioannou Christiana C Kythreotis Loukas L Hadjilambi Georgia G Andreou Nicoletta N Pangalou Evangelia E Savvidou Irene I Angastiniotis Michael M Hadjigavriel Michael M Sitarou Maria M Kolnagou Annita A Kleanthous Marina M Christou Soteroula S
Scientific reports 20160520
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-th ...[more]
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