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 Venezuela
Venezuela |
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Haemoglobinopathy-specific healthcare policy information for Venezuela
Healthcare policy | Comment/Info | Reference | |
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SCD newborn screening: | No | Pilot projects only. | [PMID: 19775947] |
Haemoglobinopathies patient registry: | No | From: GG2020 Conference 2016 | |
Rare disease patient registry: | Yes (National) |
Prevalence and incidence of major haemoglobinopathies in Venezuela
Haemoglobinopathy | Comment/Info | Reference | |
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Prevalence of β-thalassaemia carriers: | 0.2 % of the population | [PMID: 24672827] | |
Prevalence of sickle cell disease carriers: | 1.96 % of the population | [PMID: 24672827] | |
Prevalence of Hb E carriers: | 0 % of the population | From: Modell's Haemoglobinopathologist's Almanac. | |
Prevalence of Hb C carriers: | 0.401 % of the population | From: Modell's Haemoglobinopathologist's Almanac. | |
Expected incidence of β-thalassaemia: | 1 expected affected births/year | [PMID: 24672827] | |
Expected incidence of sickle cell disease: | 63 expected affected births/year | [PMID: 24672827] | |
Incidence of sickle cell disease: | 435 affected births/year | Median value estimated using statistical model and demographic data. | [PMID: 23103089] |
Global Burden of Disease data for Venezuela
Migration data for Venezuela
Mutation frequencies in Venezuela
Overview (most frequent mutations with their observed average values and range)
β-locus
CD 39 CAG>TAG [Gln>STOP]: 34.1 % | IVS I-1 G>A: 11.1 % |
IVS I-6 (T>C): 6.6 % | IVS I-110 G>A: 6.6 % |
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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22953 | β-locus | Caracas | Multi-ethnic | Carriers and Patients | 135 | 2012 | 22563936 | Frequencies are shown for beta-globin gene mutations in the admixed Mestizo population (Mestizos, Amerindians, Caucasians and Africans). Study samples were acquired from the Laboratorio de Investigación de Hemoglobinas Anormales, Universidad Central de Venezuela, Caracas. |
Organisations in Venezuela
Organisations in Venezuela are currently not available
Microattributions
No microattibutions were provided for Venezuela. 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.