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
 Greece |
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Haemoglobinopathy-specific healthcare policy information for Greece
| Healthcare policy | Comment/Info | Reference | |
|---|---|---|---|
| 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: | No | Rarely; 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: | No | A 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
| Haemoglobinopathy | Comment/Info | Reference | |
|---|---|---|---|
| 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/year | For all haemoglobinopathies. | |
| Incidence of sickle cell disease: | 206 affected births/year | Median value estimated using statistical model and demographic data. | [PMID: 23103089] |
| Known β-thalassaemia patients: | 2759 patients | 2099 thalassaemia major, 660 thalassaemia intermedia, from NRHG 2010-2015 | [PMID: 30196444] |
| Known sickle cell disease patients: | 1032 patients | 177 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)
β-locus
| 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 ID | Locus | Region | Ethnic Group | Population Type | Sample Size | Study period (from) | Study period (to) | Reference | Comments | |
|---|---|---|---|---|---|---|---|---|---|---|
| 22732 | β-locus | Country-wide | Greek | Carriers | 3796 | 2008 | 18096416 | Frequencies 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
| Name | Department | Organisation type |
|---|---|---|
| “Aghia Sophia” Children’s Hospital | Department of Pediatrics | Medical Center |
| AHEPA University General Hospital of Thessaloniki (AHEPA) | Thalassemia and Sickle Unit | Medical Center |
| Biomedical Research Foundation of the Academy of Athens (BRFAA) | Research Center | |
| George Papanicolaou Hospital | Hematology Department and BMT unit | Medical 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 Aging | Research Center |
| Laiko General Hospital Athens (LGHA) | Thalassaemia and Haemoglobinopathies Center | Research Center, Medical Center |
| National and Kapodistrian University of Athens (UOA) | Department of Medical Genetics, Choremio Research Laboratory | Research Center, Diagnostic Center |
| National and Kapodistrian University of Athens (UOA) | Department of Genetics and Biotechnology, Faculty of Biology | Research Center, Higher Education |
| National and Kapodistrian University of Athens (UOA) | School of Medicine, Laboratory of Biology | Research Center, Higher Education |
| National and Kapodistrian University of Athens (UOA) | Division of Endocrinology, Metabolism & Diabetes | Research Center, Diagnostic Center |
| University Hospital of Ioannina | Dept. of Medicine | Medical Center |
| University of Patras | Medical School | Research Center, Higher Education |
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Voskaridou, Ersi | 2016-03-29 | Provided information on healthcare policies and status of haemoglobinopathies as part of the HVP GG2020 Challenge. |
| 2 | Traeger Synodinos, Jan | 2016-09-16 | Information 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.
Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaMaps are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.