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 France
France |
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Haemoglobinopathy-specific healthcare policy information for France
Healthcare policy | Comment/Info | Reference | |
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Prevention programme: | Yes (National) | ||
SCD newborn screening: | Yes (National) | Targeted on at-risk newborns in mainland France. All newborns in French overseas territories. | [PMID: 31581727] |
Prenatal screening: | No | ||
Antenatal screening: | No | Available upon request. | [PMID: 24980780] |
Haemoglobinopathies patient registry: | Yes (National) | French registry for beta-thalassemia (national), BasePédia Drépa (in elaboration) for SCD (Regional) [ERN-EuroBloodNet_Report on existing registries for RHD_2018] | [PMID: 24980780] |
Rare disease patient registry: | Yes (National) | BNDMR: French National Registry for Rare Diseases | |
Dedicated treatment centres: | Yes (National) | 3 reference centres and 14 expertise centres. | |
Blood transfusion availability: | Yes (National) | ||
Iron chelation availability: | Yes (National) | ||
MRI facilities: | Yes (National) | ||
Patient associations: | Yes (National) | The SOS FMDT Globi brings together 13 associations spread over the country. | |
Genetic counselling: | Yes (National) |
Prevalence and incidence of major haemoglobinopathies in France
Haemoglobinopathy | Comment/Info | Reference | |
---|---|---|---|
Prevalence of β-thalassaemia carriers: | 0.7 % of the population | [PMID: 24672827] | |
Prevalence of sickle cell disease carriers: | 0.7 % of the population | ||
Prevalence of Hb E carriers: | 0.15 % of the population | [PMID: 17365984] | |
Prevalence of Hb C carriers: | 0.2 % of the population | ||
Expected incidence of β-thalassaemia: | 12 expected affected births/year | [PMID: 24672827] | |
Incidence of β-thalassaemia: | 10 affected births/year | ||
Incidence of sickle cell disease: | 450 affected births/year | ||
Known β-thalassaemia patients: | 680 patients | ||
Known sickle cell disease patients: | 15000 patients | Between 19,800 and 32,400 patients in year 2016. | [PMID: 34242255] |
Global Burden of Disease data for France
Migration data for France
Mutation frequencies in France
Overview (most frequent mutations with their observed average values and range)
β-locus
CD 39 CAG>TAG [Gln>STOP]: 41.9 % | -29 (A>G): 41.15 % (38.6 % – 43.7 %) |
IVS I-110 G>A: 25.7 % | IVS I-5 (G>C): 11.95 % (11.4 % – 12.5 %) |
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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22684 | β-locus | Guadeloupe | Guadeloupean | Carriers | 132 | 1996 | 8948659 | Frequencies are shown for beta-globin gene mutations. Study samples were collected from a carrier screening program and follow-up care from health clinics in Guadeloupe. Two of the study samples were patients. | ||
22685 | β-locus | Guadeloupe | Guadeloupean | Patients | 48 | 1984 | 2010 | 24144845 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired predominantly from a newborn screening programme in Guadeloupe, including Saint-Martin and Saint-Barthelemy | |
22686 | β-locus | Marseille | Multi-ethnic | Carriers and Patients | 105 | 1987 | 3667319 | Frequencies are shown for beta-globin gene mutations among the population of South-eastern France. |
Organisations in France
A list of all organisations in France 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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Centre Hospitalier Universitaire de Montpellier (CHU) | Medical Center | |
ERA-Net for Research Programmes on Rare Diseases (E-Rare) | Scientific Organisation/Network | |
European School of Haematology (ESH) | Higher Education, Scientific Organisation/Network | |
European Science Foundation (ESF) | Scientific Society | |
Hôpital La Timone | Reference Center for Thalassemia | Medical Center, Diagnostic Center |
Institut national de la santé et de la recherche médicale (INSERM) | Research Center, Medical Center, Higher Education | |
International Rare Diseases Research Consortium (IRDiRC ) | . | Research Project/Multi-Center Study |
Orphanet - The portal for rare diseases and orphan drugs (Orphanet ) | Scientific Organisation/Network | |
Sorbonne Paris Cité University (USPC) | Paris Diderot Medical School | Research Center, Higher Education |
Microattributions
A/A | Contributor(s) | Date | Comments |
---|---|---|---|
1 | Badens, Catherine | 2016-10-18 | 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.