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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
Continent: Asia
Capital: Ankara
Population: 77804122
Area (in sq km): 780580.0

Haemoglobinopathy-specific healthcare policy information for Turkey

Healthcare policyComment/InfoReference
Prevention programme: Yes (National)Premarital screening was mandated in 2005.[PMID: 11773575]
SCD newborn screening: NoSCD 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

HaemoglobinopathyComment/InfoReference
Prevalence of β-thalassaemia carriers: 2.2 % of the population2.1%, up to 10% in some regions[PMID: 24672827]
Prevalence of sickle cell disease carriers: 0.44 % of the populationVery 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/yearMedian 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 IDLocusRegionEthnic GroupPopulation TypeSample SizeStudy period (from)Study period (to)ReferenceComments
23219β-locusGaziantepTurkishCarriers and Patients163201022356097Frequencies are shown for beta-globin gene mutations.
23220β-locusAdiyamanTurkishCarriers282010201022356097Frequencies are shown for beta-globin gene mutations. Samples were collected during premarital screening at the Adıyaman Obstetrics and Gynecology & Child Diseases Hospital, Adıyaman.
23221β-locusDiyarbakırTurkishPatients72200314649321Frequencies are shown for beta-globin gene mutations. Samples were recruited at the Dicle Medical School Hospital at Diyarbakir.
23222β-locusDenizliTurkishUnknown55200527264513Frequencies are shown for beta-globin gene mutations. The city of Denizli is located in the inner part of the Aegean region.
23223β-locusAntalyaTurkishPatients1942006201628276871Frequencies are shown for beta-globin gene mutations. Samples were collected from the Thalassaemia Center of the Antalya Education and Research Hospital.
23224β-locusCukurova regionTurkishCarriers and Patients530200111480785Frequencies 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.
23225β-locusHatayTurkishPatients1862009201325155404Frequencies 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.
23226β-locusŞanlıurfaTurkishPatients2302010201027264581Frequencies are shown for beta-globin gene mutations. Samples were collected from the Pediatric Hematology outpatient clinic of Harran University, Education and Research Hospital.
23227β-locusÇanakkaleTurkishCarriers462008201227785405Frequencies 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.
23228β-locusSiirtTurkishPatients542013201431411089Frequencies are shown for beta-globin gene mutations. Samples were collected from the Adıyaman University Faculty of Medicine Research and Training Hospital, Adıyaman.
23229β-locusCountry-wideTurkishCarriers and Patients93719497317Frequencies are shown for beta-globin gene mutations. Study samples were mainly acquired from the University Hospitals in Istanbul and Ankara.
23230α-locusAegean regionTurkishCarriers2852007201325939702Frequencies are shown for alpha-globin gene mutations. Study samples were acquired from the Ege University Hospital, Izmir, in the Aegean region of Turkey.
23231β-locusAegean regionTurkishCarriers and Patients11712004201326076395Frequencies 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.
23232α-locusIstanbulTurkishCarriers190201426377141Frequencies are shown for alpha-globin gene mutations. Study samples were acquired from the Istanbul University Hospital, Istanbul.
23233β-locusCukurova regionTurkishCarriers12451993201426984585Frequencies 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.
23234α-locusHatayTurkishCarriers1942008201023419704Frequencies are shown for alpha-globin gene mutations. Study samples were acquired from the Medical Biology and Genetic Department of Mustafa Kemal University, Hatay.
23235α-locusAdanaTurkishCarriers2632007200820332613Frequencies 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.
23236β-locusCountry-wideTurkishPatients212201324106605Frequencies 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.
23237β-locusMarmara regionTurkishCarriers8819989495372Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana, and Antalya.
23238β-locusAegean and Mediterranean regionTurkishCarriers19819989495372Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana, and Antalya.
23239β-locusCentral AnatoliaTurkishCarriers11119989495372Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana, and Antalya.
23240β-locusSouth Eastern AnatoliaTurkishCarriers11719989495372Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana, and Antalya.
23241β-locusBlack Sea regionTurkishCarriers5519989495372Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana, and Antalya.
23242β-locusEast AnatoliaTurkishCarriers5919989495372Frequencies are shown for beta-globin gene mutations. Study samples were acquired from different hospitals in Istanbul, Ankara, Izmir, Adana, and Antalya.
23243β-locusCountry-wideTurkishCarriers79519989495372Frequencies 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.
23244β-locusAdanaTurkishCarriers404201122851993Frequencies 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.
23245β-locusAdanaTurkishPatients112201122851993Frequencies 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.
23246β-locusGaziantepTurkishCarriers and Patients1372009201325825561Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Medical School Research and Training Hospital, Gaziantep University.
23247β-locusCountry-wideTurkishPatients30001987200617486506Frequencies 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

NameDepartmentOrganisation type
Bogazici University Molecular Biology and GeneticsResearch 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)ThalassaemiaDiagnostic Center

 Microattributions

No microattibutions were provided for Turkey. Please contact us, if you are willing to review existing information or provide new data.

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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.