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 |
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Haemoglobinopathy-specific healthcare policy information for Bulgaria
Healthcare policy | Comment/Info | Reference | |
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Prevention programme: | No | ||
SCD newborn screening: | No | SCD 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: | No | Provisions 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
Haemoglobinopathy | Comment/Info | Reference | |
---|---|---|---|
Prevalence of β-thalassaemia carriers: | 2.5 % of the population | [PMID: 24672827] | |
Expected incidence of β-thalassaemia: | 2 expected affected births/year | 1-2 expected births per year | |
Incidence of sickle cell disease: | 17 affected births/year | Median 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 ID | Locus | Region | Ethnic Group | Population Type | Sample Size | Study period (from) | Study period (to) | Reference | Comments | |
---|---|---|---|---|---|---|---|---|---|---|
23133 | β-locus | Country-wide | Bulgarian | Carriers and Patients | 801 | 1965 | 2005 | 17486505 | Frequencies 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
Name | Department | Organisation type |
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National Specialized Hospital for Active Treatment of Hematological Diseases | Medical Center | |
Specialized Children's Oncohematology Hospital (SBALDOHZ) | Haematology Department | Medical Center |
University Hospital “St. Marina” | Clinic of Pediatric Haematology and Oncology | Medical Center |
Microattributions
A/A | Contributor(s) | Date | Comments |
---|---|---|---|
1 | Kaleva, Valeriya | 2016-08-19 | Information 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.