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 United Kingdom
 United Kingdom |
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Haemoglobinopathy-specific healthcare policy information for United Kingdom
| Healthcare policy | Comment/Info | Reference | |
|---|---|---|---|
| Prevention programme: | Yes (National) | Premarital/preconception screening offered upon request. | [PMID: 24921462] |
| SCD newborn screening: | Yes (National) | Across all countries of the United Kingdom of Great Britain and Northern Ireland. | [PMID: 33072975] |
| Prenatal screening: | Yes (National) | Available in National Health Service. | [PMID: 22742984] |
| Antenatal screening: | Yes (National) | [PMID: 24980780] | |
| Haemoglobinopathies patient registry: | Yes (National) | Thalassaemia and Sickle cell [https://nhr.mdsas.com/] | |
| Rare disease patient registry: | No | National rare disease registry in stages of planning. | [PMID: 28359278] |
| Dedicated treatment centres: | Yes (National) | From: https://nhr.mdsas.com/ | |
| Blood transfusion availability: | Yes (National) | From: NHR annual report 2019/2020 | |
| Iron chelation availability: | Yes (National) | Deferasirox, Deferiprone, Desferrioxamine, Combined Desferrioxamine+Deferiprone. From: NHR annual report 2019/2020 | |
| MRI facilities: | Yes (National) | From: PGPR, Global Sickle Cell Disease Network. | |
| Patient associations: | Yes (National) | National: UK Thalassaemia Society; Sickle Cell Society; Regional: North England SociETY (NEBATA) and several regional sickle cell societies in England. | |
| Genetic counselling: | Yes (National) | Counselling service is provided by dedicated treatment centres. |
Prevalence and incidence of major haemoglobinopathies in United Kingdom
| Haemoglobinopathy | Comment/Info | Reference | |
|---|---|---|---|
| Prevalence of β-thalassaemia carriers: | 0.44 % of the population | [PMID: 24672827] | |
| Prevalence of sickle cell disease carriers: | 2.5 % of the population | [PMID: 24672827] | |
| Prevalence of α-thalassaemia carriers: | 2.5 % of the population | From: ENERCA report Dec. 2008 | |
| Prevalence of Hb C carriers: | 0.13 % of the population | From: Modell's Haemoglobinopathologist's Almanac. | |
| Expected incidence of β-thalassaemia: | 4 expected affected births/year | [PMID: 24672827] | |
| Incidence of sickle cell disease: | 296 affected births/year | Median value estimated using statistical model and demographic data. | [PMID: 23103089] |
| Known β-thalassaemia patients: | 1168 patients | Beta-thalassaemia (major, intermedia) registrations [NHR Annual Report 2019_2020] | |
| Known sickle cell disease patients: | 12660 patients | Sickle cell registrations [NHR Annual Report 2019_2020] |
Global Burden of Disease data for United Kingdom
Migration data for United Kingdom
Mutation frequencies in United Kingdom
Overview (most frequent mutations with their observed average values and range)
α-locus
| -α3.7 (type I): 56.1 % | --SEA: 20.8 % |
| -α4.2: 4.1 % | IVS I-1 (-5 bp) GAGGTGAGG>GAGG----- donor: 3 % |
β-locus
| CD 16 GGC>CGC (Hb A2' or Hb B2): 72.4 % | CD 39 CAG>TAG [Gln>STOP]: 22.87 % (3.4 % – 34.8 %) |
| IVS I-5 (G>C): 22.5 % | IVS II-850 (G>A): 15.35 % (0.3 % – 30.4 %) |
Detailed mutation frequencies
| Entry ID | Locus | Region | Ethnic Group | Population Type | Sample Size | Study period (from) | Study period (to) | Reference | Comments | |
|---|---|---|---|---|---|---|---|---|---|---|
| 23248 | β-locus | Country-wide | Multi-ethnic | Carriers | 1117 | 2004 | 2009 | 19497317 | Allele frequencies are representative of beta-thalassaemia mutations found in both immigrant populations and indigenous British. | |
| 23249 | β-locus | Country-wide | Anglo-Saxon | Carriers and Patients | 23 | 1984 | 1991 | 1486039 | Frequencies are shown for beta-globin gene mutations from both carriers and patients. Study samples were collected from haematology units throughout the United Kingdom. | |
| 23250 | α-locus | Country-wide | Multi-ethnic | Carriers and Patients | 1617 | 2004 | 2009 | 19497317 | Allele frequencies are shown for alpha-globin gene mutations in both immigrant populations and indigenous British. | |
| 23251 | β-locus | Belfast | Irish | Carriers | 23 | 1975 | 2006 | 16466947 | Frequencies are shown for beta-globin gene mutations. Study samples originated from the County Down region of Northern Ireland. | |
| 23252 | β-locus | Country-wide | Multi-ethnic | Carriers | 127 | 2010 | 2014 | 24601842 | Allele frequencies are shown for delta-globin gene mutations and were calculated by Ithanet. Study samples were obtained from the UK National Haemoglobinopathy Reference Laboratory. |
Organisations in United Kingdom
A list of all organisations in United Kingdom 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 |
|---|---|---|
| British Society for Gene and Cell Therapy (BSGCT) | Scientific Society | |
| Churchill Hospital | Medical Center | |
| European Society of Gene and Cell Therapy (ESGCT) | . | Scientific Society |
| Imperial College London | Research Center, Higher Education | |
| John Radcliffe Hospital (JR) | Molecular Medicine | Research Center, Medical Center |
| King's College London | Department of Medical and Molecular Genetics | Higher Education |
| RD-Connect (RD-Connect) | Scientific Organisation/Network | |
| Royal London Hospital | Medical Center | |
| UCL Centre for Health Informatics & Multiprofessional Education (CHIME) | Research Center, Higher Education | |
| UCL Institute for Women's Health ( IfWH) | Prenatal Cell and Gene Therapy Group | Research Center, Diagnostic Center |
| UCL Institute of Epidemiology and Health Care (IEHC) | Research Center, Medical Center, Higher Education | |
| University College London Hospitals (UCLH) | Medical Center | |
| University of Oxford | Research Center, Higher Education | |
| Viapath, Guy’s & St Thomas Hospital | Special Haematology | Diagnostic Center |
Microattributions
No microattibutions were provided for United Kingdom. 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.