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 Turkey
Turkey |
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Haemoglobinopathy-specific healthcare policy information for Turkey
Healthcare policy | Comment/Info | Reference | |
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Prevention programme: | Yes (National) | Premarital screening was mandated in 2005. | [PMID: 11773575] |
SCD newborn screening: | No | SCD is not included in the neonatal screening panel. | [PMID: 33808002] |
Prenatal screening: | Yes (National) | [PMID: 11773575] | |
Antenatal screening: | Yes (National) | [PMID: 24921462] | |
Haemoglobinopathies patient registry: | Yes (National) | Turkish Hemoglobinopathy Registry created in 2012 by the Turkish Society of Pediatric Hematology; includes thalassaemia major, thalassaemia intermedia and sickle cell disease. | [PMID: 31213746] |
Rare disease patient registry: | No | ||
Dedicated treatment centres: | No | ||
Blood transfusion availability: | Yes (National) | ||
Iron chelation availability: | Yes (National) | ||
MRI facilities: | Yes (National) | ||
Patient associations: | Yes (National) | ||
Genetic counselling: | Yes (National) |
Prevalence and incidence of major haemoglobinopathies in Turkey
Haemoglobinopathy | Comment/Info | Reference | |
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Prevalence of β-thalassaemia carriers: | 2.2 % of the population | 2.1%, up to 10% in some regions | [PMID: 24672827] |
Prevalence of sickle cell disease carriers: | 0.44 % of the population | Very high in Eti Turks living in Hatay district (southeastern TR) | [PMID: 24672827] |
Prevalence of α-thalassaemia carriers: | 2 % of the population | [PMID: 26984585] | |
Prevalence of Hb E carriers: | 0.002 % of the population | [PMID: 17365984] | |
Prevalence of Hb C carriers: | 0.001 % of the population | [PMID: 17365984] | |
Expected incidence of β-thalassaemia: | 173 expected affected births/year | [PMID: 24672827] | |
Incidence of sickle cell disease: | 330 affected births/year | Median value estimated using statistical model and demographic data. | [PMID: 23103089] |
Known β-thalassaemia patients: | 3264 patients | [PMID: 24672827] | |
Known sickle cell disease patients: | 1050 patients | [PMID: 24672827] |
Global Burden of Disease data for Turkey
Migration data for Turkey
Mutation frequencies in Turkey
Overview (most frequent mutations with their observed average values and range)
α-locus
-α3.7 (type I): 47.2 % (23.1 % – 69.6 %) | --MED I: 10.35 % (5.67 % – 16.3 %) |
-(α)20.5: 7.79 % (0.51 % – 14.74 %) | IVS I-1 (-5 bp) GAGGTGAGG>GAGG----- donor: 5.62 % (3.86 % – 6.7 %) |
β-locus
IVS I-110 G>A: 33.95 % (5.4 % – 60.8 %) | CD 6 GAG>GTG [Glu>Val] (HbS): 18.2 % (0.4 % – 76.8 %) |
CD 123 (-A) >156aa (Hb Makabe): 10.5 % | IVS I-6 (T>C): 8.21 % (1.3 % – 17.2 %) |
Detailed mutation frequencies
Entry ID | Locus | Region | Ethnic Group | Population Type | Sample Size | Study period (from) | Study period (to) | Reference | Comments | |
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23219 | β-locus | Gaziantep | Turkish | Carriers and Patients | 163 | 2010 | 22356097 | Frequencies are shown for beta-globin gene mutations. | ||
23220 | β-locus | Adiyaman | Turkish | Carriers | 28 | 2010 | 2010 | 22356097 | Frequencies are shown for beta-globin gene mutations. Samples were collected during premarital screening at the Adıyaman Obstetrics and Gynecology & Child Diseases Hospital, Adıyaman. | |
23221 | β-locus | Diyarbakır | Turkish | Patients | 72 | 2003 | 14649321 | Frequencies are shown for beta-globin gene mutations. Samples were recruited at the Dicle Medical School Hospital at Diyarbakir. | ||
23222 | β-locus | Denizli | Turkish | Unknown | 55 | 2005 | 27264513 | Frequencies are shown for beta-globin gene mutations. The city of Denizli is located in the inner part of the Aegean region. | ||
23223 | β-locus | Antalya | Turkish | Patients | 194 | 2006 | 2016 | 28276871 | Frequencies are shown for beta-globin gene mutations. Samples were collected from the Thalassaemia Center of the Antalya Education and Research Hospital. | |
23224 | β-locus | Cukurova region | Turkish | Carriers and Patients | 530 | 2001 | 11480785 | Frequencies are shown for beta-globin gene mutations. Samples were collected from screening surveys, patients, and families requesting prenatal diagnosis in Cukurova region. Cukurova lies in the southern part of Turkey and consists of Mersin, Adana, Osmaniye, and Hatay provinces. | ||
23225 | β-locus | Hatay | Turkish | Patients | 186 | 2009 | 2013 | 25155404 | Frequencies are shown for beta-globin gene mutations. Samples were collected at the Department of Medical Genetics and the Department of Hematology at Mustafa Kemal University, Medical School, Hatay. | |
23226 | β-locus | Şanlıurfa | Turkish | Patients | 230 | 2010 | 2010 | 27264581 | Frequencies are shown for beta-globin gene mutations. Samples were collected from the Pediatric Hematology outpatient clinic of Harran University, Education and Research Hospital. | |
23227 | β-locus | Çanakkale | Turkish | Carriers | 46 | 2008 | 2012 | 27785405 | Frequencies are shown for beta-globin gene mutations. Samples were collected from the Çanakkale State Health Directorate Laboratory. Çanakkale is in the Aegean region of Turkey. | |
23228 | β-locus | Siirt | Turkish | Patients | 54 | 2013 | 2014 | 31411089 | Frequencies are shown for beta-globin gene mutations. Samples were collected from the Adıyaman University Faculty of Medicine Research and Training Hospital, Adıyaman. | |
23229 | β-locus | Country-wide | Turkish | Carriers and Patients | 937 | 19497317 | Frequencies are shown for beta-globin gene mutations. Study samples were mainly acquired from the University Hospitals in Istanbul and Ankara. | |||
23230 | α-locus | Aegean region | Turkish | Carriers | 285 | 2007 | 2013 | 25939702 | Frequencies are shown for alpha-globin gene mutations. Study samples were acquired from the Ege University Hospital, Izmir, in the Aegean region of Turkey. | |
23231 | β-locus | Aegean region | Turkish | Carriers and Patients | 1171 | 2004 | 2013 | 26076395 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Ege University Hospital, Izmir, and represent cases originating from the Aegean region. | |
23232 | α-locus | Istanbul | Turkish | Carriers | 190 | 2014 | 26377141 | Frequencies are shown for alpha-globin gene mutations. Study samples were acquired from the Istanbul University Hospital, Istanbul. | ||
23233 | β-locus | Cukurova region | Turkish | Carriers | 1245 | 1993 | 2014 | 26984585 | Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet. Study samples were acquired from the Department of Medical Biochemistry, Cukurova University, Adana. About 70% of cases were from provinces of the Cukurova region (Adana, Mersin and Hatay), 25% from Konya and 6% from Kayseri. | |
23234 | α-locus | Hatay | Turkish | Carriers | 194 | 2008 | 2010 | 23419704 | Frequencies are shown for alpha-globin gene mutations. Study samples were acquired from the Medical Biology and Genetic Department of Mustafa Kemal University, Hatay. | |
23235 | α-locus | Adana | Turkish | Carriers | 263 | 2007 | 2008 | 20332613 | Frequencies are shown for alpha-globin gene mutations and were calculated by Ithanet. Paper reports genotype frequencies. Study samples were acquired from the Seyhan Hereditary Blood Disorders Centre in Adana. | |
23236 | β-locus | Country-wide | Turkish | Patients | 212 | 2013 | 24106605 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Ankara Children’s Haematology and Oncology Research Hospital, a tertiary centre which serves patients from all regions of Turkey. | ||
23237 | β-locus | Marmara region | Turkish | Carriers | 88 | 1998 | 9495372 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana, and Antalya. | ||
23238 | β-locus | Aegean and Mediterranean region | Turkish | Carriers | 198 | 1998 | 9495372 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana, and Antalya. | ||
23239 | β-locus | Central Anatolia | Turkish | Carriers | 111 | 1998 | 9495372 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana, and Antalya. | ||
23240 | β-locus | South Eastern Anatolia | Turkish | Carriers | 117 | 1998 | 9495372 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana, and Antalya. | ||
23241 | β-locus | Black Sea region | Turkish | Carriers | 55 | 1998 | 9495372 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana, and Antalya. | ||
23242 | β-locus | East Anatolia | Turkish | Carriers | 59 | 1998 | 9495372 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana, and Antalya. | ||
23243 | β-locus | Country-wide | Turkish | Carriers | 795 | 1998 | 9495372 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana and Antalya, and were mainly Turkish. A small number (~13%) had unknown origin. | ||
23244 | β-locus | Adana | Turkish | Carriers | 404 | 2011 | 22851993 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Seyhan Hereditary Blood Disorders Center in Adana, the largest city located in the Cukurova region. | ||
23245 | β-locus | Adana | Turkish | Patients | 112 | 2011 | 22851993 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Seyhan Hereditary Blood Disorders Center in Adana, the largest city located in the Cukurova region. | ||
23246 | β-locus | Gaziantep | Turkish | Carriers and Patients | 137 | 2009 | 2013 | 25825561 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Medical School Research and Training Hospital, Gaziantep University. | |
23247 | β-locus | Country-wide | Turkish | Patients | 3000 | 1987 | 2006 | 17486506 | Frequencies are shown for beta-globin gene mutations. |
Organisations in Turkey
A list of all organisations in Turkey 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 |
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Bogazici University | Molecular Biology and Genetics | Research Center, Higher Education |
Ege University | Paediatric Haematology | Research Center, Medical Center, Higher Education, Diagnostic Center |
Mediterrranean Blood Diseases Foundation (Akdeniz Kan Hastalıkları Vakfı) Hemoglobinopathy Diagnosis Center (AKHAV) | Thalassaemia | Diagnostic Center |
Microattributions
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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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