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 Bulgaria


Bulgaria
Continent: Europe
Capital: Sofia
Population: 7148785
Area (in sq km): 110910.0

Haemoglobinopathy-specific healthcare policy information for Bulgaria

Healthcare policyComment/InfoReference
Prevention programme: No
SCD newborn screening: NoSCD is not included in the neonatal screening panel.[PMID: 33808002]
Prenatal screening: No
Antenatal screening: No
Haemoglobinopathies patient registry: Yes (National)National Registry of Patients with Thalassemia in Bulgaria (NRPTB) since 2009. [Orphanet Report Series- Rare Disease Registries in Europe - May 2017][PMID: 31213746]
Rare disease patient registry: NoProvisions for a RD registry are contained in a Draft Regulation as part of the national initiatives to implement the EU Cross-Border Health Care Directive.[PMID: 25228300]
Dedicated treatment centres: Yes (National)
Blood transfusion availability: Yes (National)
Iron chelation availability: Yes (National)
MRI facilities: Yes (National)
Patient associations: Yes (National)e.g.: Thalassaemics Organization In Bulgaria.
Genetic counselling: Yes (National)

  Prevalence and incidence of major haemoglobinopathies in Bulgaria

HaemoglobinopathyComment/InfoReference
Prevalence of β-thalassaemia carriers: 2.5 % of the population[PMID: 24672827]
Expected incidence of β-thalassaemia: 2 expected affected births/year1-2 expected births per year
Incidence of sickle cell disease: 17 affected births/yearMedian value estimated using statistical model and demographic data.[PMID: 23103089]
Known β-thalassaemia patients: 286 patients

  Global Burden of Disease data for Bulgaria

  Migration data for Bulgaria

Mutation frequencies in Bulgaria

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

 β-locus

CD 39 CAG>TAG [Gln>STOP]: 29.1 %IVS I-110 G>A: 23 %
IVS I-1 G>A: 14.2 %CD 5 -CT: 8.4 %

 Detailed mutation frequencies

Entry IDLocusRegionEthnic GroupPopulation TypeSample SizeStudy period (from)Study period (to)ReferenceComments
23133β-locusCountry-wideBulgarianCarriers and Patients8011965200517486505Frequencies are shown for beta-globin gene mutations. Study samples were acquired mainly from the Pediatric Clinic at the University of Stara Zagora, as well as from local clinics of the southern central provinces of Bulgaria.

  Organisations in Bulgaria

A list of all organisations in Bulgaria 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
National Specialized Hospital for Active Treatment of Hematological DiseasesMedical Center
Specialized Children's Oncohematology Hospital (SBALDOHZ)Haematology DepartmentMedical Center
University Hospital “St. Marina”Clinic of Pediatric Haematology and OncologyMedical Center

 Microattributions

A/AContributor(s)DateComments
1Kaleva, Valeriya2016-08-19Information on healthcare policies and the status of major haemoglobinopathies reviewed and updated.

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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.