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

Petros Kountouris1, Ioanna Kousiappa1, Thessalia Papasavva1

  • 1Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, 6 International Airport Ave., 2370 Nicosia, Cyprus.

Scientific Reports
|May 21, 2016
PubMed

Insights

Haemoglobinopathies, like thalassaemia, are common genetic disorders. Cyprus, with high thalassaemia prevalence, updated its prevention program by analyzing over 13,000 carrier genotypes to map mutation distribution.

Area of Science:

  • Medical Genetics
  • Public Health
  • Molecular Biology

Background:

  • Haemoglobinopathies represent a significant global health burden, being the most common monogenic diseases.
  • Cyprus exhibits one of the world's highest prevalences of thalassaemia.
  • The nation pioneered a successful population-wide prevention strategy utilizing premarital screening.

Purpose of the Study:

  • To provide a comprehensive and updated status report on haemoglobinopathies in Cyprus after two decades.
  • To analyze the molecular spectrum and geographic distribution of globin gene mutations.
  • To estimate relative allele frequencies for specific mutations within the Cypriot population.

Main Methods:

  • Identification and analysis of 592 β-thalassaemia and 595 Hb H disease patients.
  • Genotyping of 13,824 carriers for α-, β-, and δ-globin gene mutations between 1995 and 2015.
  • Assessment of mutation frequencies and their geographical distribution across Cyprus.

Main Results:

  • Detailed characterization of the molecular landscape of haemoglobinopathies in Cyprus.
  • Identification of novel mutations within the Cypriot population.
  • Significant variations in mutation distribution were observed across different districts of the island.

Conclusions:

  • The study provides crucial updated epidemiological and molecular data on haemoglobinopathies in Cyprus.
  • Findings highlight the importance of ongoing surveillance and targeted prevention strategies.
  • The observed geographic disparities in mutation distribution may inform localized public health interventions.

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