The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

doi:10.1038/srep26371

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Article

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

Scientific reports - 20 May 2016

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

Abstract excerpt

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...

Topics

Adolescent
Adult
Carrier State
Cyprus
Female
Gene Frequency
Hemoglobinopathies
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mutation

Prevalence

Retrospective Studies

Young Adult

alpha-Globins

alpha-Thalassemia

beta-Globins

beta-Thalassemia

Source

Open in PubMed Open full text

Identifiers

PMID: 27199182
DOI: 10.1038/srep26371
PMCID: PMC4873807

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