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 Nepal
Nepal |
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Haemoglobinopathy-specific healthcare policy information for Nepal
Healthcare policy | Comment/Info | Reference | |
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Prevention programme: | No | [PMID: 29751732] | |
Haemoglobinopathies patient registry: | No | Thalassaemia patients are registered by the Nepal Thalassaemia Society [Thalassaemia Reports 2012, Pan-Asian Conference] | |
Blood transfusion availability: | Yes (National) | There is a National Blood Policy (since 1991) and 113 Blood Transfusion Service Centres in 50 of the 77 districts of Nepal, including one central (Kathmandu) and four regional (Biratnagar, Pokhara, Nepalgunj, Chitwan) centres [From: WHO South-East Asia 2021 report, ISBN: 978-92-9022-851-6] | |
Iron chelation availability: | Yes (National) | From: Thalassaemia Reports 2012, TIF Pan-Asian Conference. | |
Patient associations: | Yes (National) | E.g.: Nepal Thalassaemia Society. |
Prevalence and incidence of major haemoglobinopathies in Nepal
Haemoglobinopathy | Comment/Info | Reference | |
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Prevalence of β-thalassaemia carriers: | 4 % of the population | [PMID: 24672827] | |
Prevalence of sickle cell disease carriers: | 9.3 % of the population | Representative of the Tharu people of Dang. | [PMID: 29313430] |
Prevalence of Hb E carriers: | 4.4 % of the population | [PMID: 24672827] | |
Expected incidence of β-thalassaemia: | 836 expected affected births/year | [PMID: 24672827] | |
Incidence of sickle cell disease: | 11 affected births/year | Median value estimated using statistical model and demographic data. | [PMID: 23103089] |
Known β-thalassaemia patients: | 400 patients | [PMID: 24672827] |
Global Burden of Disease data for Nepal
Migration data for Nepal
Mutation frequencies in Nepal
Overview (most frequent mutations with their observed average values and range)
β-locus
CD 26 GAG>AAG [Glu>Lys] (HbE): 23 % | 619 bp deletion: 22.72 % (14.64 % – 30.8 %) |
IVS I-5 (G>C): 20.03 % (17.07 % – 23 %) | CD 41/42 (-CTTT): 18.85 % (6 % – 31.71 %) |
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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23107 | β-locus | Country-wide | Nepalese | Carriers and Patients | 78 | 2021 | 33592169 | Frequencies are shown for beta-globin gene mutations. Patients belonged to 17 different ethnicities across Nepal; 21 major mutations were investigated (not detected: -86, -87, -88, -29A>G, -28A>G, Init.CD, CD15G>A, IVS I-1G>A, CAP+1 A>C, CD43, CD 71/72, poly-A, IVS 2-654 C>T). | ||
23108 | β-locus | Country-wide | Multi-ethnic | Carriers and Patients | 41 | 2005 | 2007 | 23441495 | Frequencies are shown for beta-globin gene mutations. The study was conducted in B.P.Koirala Institute of Health Sciences, Dharan, in collaboration with the Institute of Medical Sciences, Banaras Hindu University, Varanasi. |
Organisations in Nepal
Organisations in Nepal are currently not available
Microattributions
No microattibutions were provided for Nepal. 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.