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
Continent: Europe
Capital: Paris
Population: 64768389
Area (in sq km): 547030.0

Haemoglobinopathy-specific healthcare policy information for France

Healthcare policyComment/InfoReference
Prevention programme: Yes (National)
SCD newborn screening: Yes (National)Targeted on at-risk newborns in mainland France. All newborns in French overseas territories.[PMID: 1581727]
Prenatal screening: No
Antenatal screening: NoAvailable upon request.[PMID: 24980780]
Haemoglobinopathies patient registry: Yes (National)National registry for thalassaemia and regional registry for sickle cell disease.[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

HaemoglobinopathyComment/InfoReference
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

Mutation frequencies in France

 Overview (most frequent mutations with their observed average values and range)

 β-locus

CD 39 (CAG>TAG): 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 IDLocusRegionEthnic GroupPopulation TypeSample SizeStudy period (from)Study period (to)ReferenceComments
20887β-locusGuadeloupeGuadeloupeanCarriers13219968948659Frequencies 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.
20888β-locusGuadeloupeGuadeloupeanPatients481984201024144845Frequencies 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
20889β-locusMarseilleMulti-ethnicCarriers and Patients10519873667319Frequencies 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

NameDepartmentOrganisation type
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 TimoneReference Center for ThalassemiaMedical 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 SchoolResearch Center, Higher Education

 Microattributions

A/AContributor(s)DateComments
1Badens, Catherine2016-10-18Information 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.