Welcome to IthaMaps

IthaMaps is a global epidemiology database of heamoglobinopathies, illustrating published data on a dynamic global to regional map. Country-specific information on haemoglobinopathy-related policies, prevalence, incidence and overall disease burden is given, including relative allele frequencies of specific globin mutations in each country and/or region, dynamically linked to corresponding IthaGenes entries.

IthaMaps content was supported by partnership with the HVP Global Globin 2020 Challenge


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  General information for Greece

Continent: Europe
Capital: Athens
Population: 11000000
Area (in sq km): 131940.0

Haemoglobinopathy-specific healthcare policy information for Greece

Healthcare policyComment/InfoReference
Prevention programme: Yes (National)Population screening is implemented in 1973 and performed by the National Thalassaemia Center to identify carriers and couples at risk of giving birth to an affected child. Government-sponsored voluntary programme.[PMID: 30501529]
SCD newborn screening: NoRarely; If prenatal screening is not performed.
Prenatal screening: Yes (National)Couples at risk are offered prenatal testing around the 12th week of gestation, followed by genetic counselling. Available since 1977. Voluntary.[PMID: 30501529]
Antenatal screening: Yes (National)[PMID: 24980780]
Haemoglobinopathies patient registry: Yes (National)National Registry for Haemoglobinopathies in Greece (NRHG) created in 2009.[PMID: 31213746]
Rare disease patient registry: NoA pilot registry (2011) is currently in progress. From: RD-Action 2014 report of the state of the art of Rare Disease Activities in Greece
Dedicated treatment centres: Yes (National)Patient management is made at dedicated centers (Thalassaemia and Sickle Cell Disease Departments) by specialized physicians all over the country.[PMID: 30501529]
Blood transfusion availability: Yes (National)
Iron chelation availability: Yes (National)
Patient associations: Yes (National)e.g.: Greek Thalassaemia Federation (EOTHA).
Genetic counselling: Yes (National)Genetic counselling is provided as part of pre-conception and prenatal screening programmes. [PMID: 30501529]

  Prevalence and incidence of major haemoglobinopathies in Greece

Prevalence of β-thalassaemia carriers: 8.1 % of the population[PMID: 24672827]
Prevalence of sickle cell disease carriers: 2 % of the population
Prevalence of α-thalassaemia carriers: 7 % of the population
Prevalence of Hb E carriers: 0.004 % of the population[PMID: 17365984]
Prevalence of Hb C carriers: 0.002 % of the population[PMID: 17365984]
Expected incidence of β-thalassaemia: 167 expected affected births/year[PMID: 24672827]
Incidence of β-thalassaemia: 10 affected births/yearFor all haemoglobinopathies.
Incidence of sickle cell disease: 206 affected births/yearMedian value estimated using statistical model and demographic data.[PMID: 23103089]
Known β-thalassaemia patients: 2759 patients2099 thalassaemia major, 660 thalassaemia intermedia, from NRHG 2010-2015[PMID: 30196444]
Known sickle cell disease patients: 1032 patients177 SCA, 855 S/β-thal., from NRHG 2010-2015[PMID: 30196444]

  Global Burden of Disease data for Greece

  Migration data for Greece

Mutation frequencies in Greece

 Overview (most frequent mutations with their observed average values and range)


IVS I-110 G>A: 42.1 %CD 39 CAG>TAG [Gln>STOP]: 18.8 %
IVS I-1 G>A: 12.8 %IVS I-6 (T>C): 8.1 %

 Detailed mutation frequencies

Entry IDLocusRegionEthnic GroupPopulation TypeSample SizeStudy period (from)Study period (to)ReferenceComments
22732β-locusCountry-wideGreekCarriers3796200818096416Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the National Thalassemia Centre, “Laikon” General Hospital of Athens.

  Organisations in Greece

A list of all organisations in Greece stored in the ITHANET database is shown below. For more information, click on the corresponding organisation name or visit the detailed ITHANET Organisations page

NameDepartmentOrganisation type
“Aghia Sophia” Children’s HospitalDepartment of PediatricsMedical Center
AHEPA University General Hospital of Thessaloniki (AHEPA)Thalassemia and Sickle UnitMedical Center
Biomedical Research Foundation of the Academy of Athens (BRFAA)Research Center
George Papanicolaou HospitalHematology Department and BMT unitMedical Center
Greek Thalassaemia Federation (EOTHA)Patient Society
Hellenic Society of Biochemistry and Molecular Biology (HSBMB)Scientific Society
Hellenic Society of Hematology (HSH)Scientific Society
Institute of Molecular Biology and Biotechnology (IMBB)Functional Genomics and AgingResearch Center
Laiko General Hospital Athens (LGHA)Thalassaemia and Haemoglobinopathies CenterResearch Center, Medical Center
National and Kapodistrian University of Athens (UOA)Department of Medical Genetics, Choremio Research LaboratoryResearch Center, Diagnostic Center
National and Kapodistrian University of Athens (UOA)Department of Genetics and Biotechnology, Faculty of BiologyResearch Center, Higher Education
National and Kapodistrian University of Athens (UOA)School of Medicine, Laboratory of BiologyResearch Center, Higher Education
National and Kapodistrian University of Athens (UOA)Division of Endocrinology, Metabolism & DiabetesResearch Center, Diagnostic Center
University Hospital of IoanninaDept. of MedicineMedical Center
University of PatrasMedical SchoolResearch Center, Higher Education


1Voskaridou, Ersi2016-03-29Provided information on healthcare policies and status of haemoglobinopathies as part of the HVP GG2020 Challenge.
2Traeger Synodinos, Jan2016-09-16Information reviewed without changes.

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Important Note: The relative allele frequencies presented in IthaMaps are not calculated by ITHANET, but they are extracted from the corresponding publications. ITHANET is not responsible for any mistakes in the data. Please use this information with caution! We encourage scientists that have more detailed or updated epidemiological information to contact us.

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