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 Spain

Continent: Europe
Capital: Madrid
Population: 46505963
Area (in sq km): 504782.0

Haemoglobinopathy-specific healthcare policy information for Spain

Healthcare policyComment/InfoReference
Prevention programme: NoPremarital/preconception screening offered upon request.[PMID: 24921462]
SCD newborn screening: Yes (National)Mandatory across the country [region/(date of implementation)]: Andalusia (2018), Aragon (sept. 2016), Asturias (Febr. 2017), Balearics (May 2016), Canary Islands (2015), Cantabria (Febr. 2016), Castilla la Mancha (2015), Castilla y Leon (July 2017), Catalonia (2015), Euskadi (2011), Extremadura (2004), La Rioja (Sept. 2016), Madrid (2003), Murcia (March 2016), Melilla (March 2016), Navarre (2016), Valencian Community (2012/2014)[PMID: 32113697]
Prenatal screening: No
Antenatal screening: NoOffered upon request.[PMID: 24921462]
Haemoglobinopathies patient registry: Yes (National)Spanish Pediatric Registry of Hemoglobinopathies (REPHem) created in 2014 under the auspices of the Spanish Society of Pediatric Hematology and Oncology (SEHOP). Includes thalassaemia major, thalassaemia intermedia, sickle cell disease and other clinically significant hemoglobinopathies.[PMID: 27804209]
Rare disease patient registry: Yes (National)The Spanish Rare Diseases Registry was set up in 2005. ENERCA report Aug. 2013
Dedicated treatment centres: No
Blood transfusion availability: Yes (National)
Iron chelation availability: Yes (National)Deferasirox, deferoxamine, deferiprone[PMID: 32113697]
Patient associations: Yes (National)e.g.: Alheta (Asociación Española De Lucha contra las hemoglobinopatías y talasemias).
Genetic counselling: NoNo national program; exercised by some hospitals based on their own protocols.

  Prevalence and incidence of major haemoglobinopathies in Spain

Prevalence of β-thalassaemia carriers: 1.64 % of the populationExtends between 0.1-2%.[PMID: 24672827]
Prevalence of sickle cell disease carriers: 0.47 % of the populationUniversal newborn screening for SCD in Madrid during 2003-2018.[PMID: 32451712]
Prevalence of Hb E carriers: 0.002 % of the population[PMID: 17365984]
Prevalence of Hb C carriers: 0.03 % of the population[PMID: 17365984]
Expected incidence of β-thalassaemia: 27 expected affected births/year[PMID: 24672827]
Incidence of β-thalassaemia: 6 affected births/yearFor beta-thalassaemia major.
Incidence of sickle cell disease: 63 affected births/year
Known β-thalassaemia patients: 75 patientsDec. 2017 REPHem data (62 β-TM, 13 β-TI). Possibly underestimated as only recently haematologists of adult patients joined the registry.[PMID: 32113697]
Known sickle cell disease patients: 826 patientsDec. 2017 REPHem data. Possibly underestimated as only recently haematologists of adult patients joined the registry.[PMID: 32113697]

Mutation frequencies in Spain

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


CD 39 (CAG>TAG): 40.62 % (20 % – 64 %)IVS I-1 G>A: 23.93 % (3.1 % – 60 %)
IVS I-110 G>A: 13.59 % (4.7 % – 26.7 %)IVS I-6 (T>C): 9.37 % (1.5 % – 16.3 %)

 Detailed mutation frequencies

Entry IDLocusRegionEthnic GroupPopulation TypeSample SizeStudy period (from)Study period (to)ReferenceComments
23369β-locusCountry-wideSpanishCarriers and Patients308200111570720Frequencies are shown for beta-globin gene mutations. Study samples were collected from a screening program for microcytosis by the Spanish Group of Erythropatology, all over Spain.
23370β-locusAndaluciaSpanishUnknown4511570720Frequencies are shown for beta-globin gene mutations.
23371β-locusCataloniaSpanishUnknown21511570720Frequencies are shown for beta-globin gene mutations. Catalonia consists of four provinces: Barcelona, Girona, Lleida, and Tarragona.
23372β-locusHuelvaSpanishUnknown1811570720Frequencies are shown for beta-globin gene mutations.
23373β-locusValenciaSpanishUnknown4311570720Frequencies are shown for beta-globin gene mutations.
23374β-locusMallorcaSpanishUnknown9811570720Frequencies are shown for beta-globin gene mutations.
23375β-locusBarcelonaSpanishUnknown5810680145Frequencies are shown for beta-globin gene mutations.
23376β-locusAlta ExtremaduraSpanishCarriers6519979140722Frequencies are shown for beta-globin gene mutations.
23377β-locusToledoSpanishUnknown1339140722Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Spanish regions of Todero, Extremadura and Huelva.
23378β-locusSpanishPatients5819882897787Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the South of Spain, from Galicia, and from the island of Minorca.
23379β-locus Oriental Andalusia AreaSpanishCarriers4519949140722Frequencies are shown for beta-globin gene mutations.
23380β-locusHuelvaSpanishCarriers18199319968602996Frequencies are shown for beta-globin gene mutations. Study samples were acquired from several towns in Huelva province.
23381β-locusBalearic IslandsSpanishCarriers172201222376243Frequencies are shown for beta-globin gene mutations. Study samples were collected from hospitals in Son Dureta (Majorca), Can Misses (Ibiza), and Mateu Orfila (Minorca).

  Organisations in Spain

A list of all organisations in Spain 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
European Network for Rare and Congenital Anaemias (ENERCA)Research Project/Multi-Center Study, Scientific Organisation/Network
Hospital Clínic de BarcelonaResearch Center, Medical Center
Hospital Clinicico San CarlosMedical Center
Hospital Universitario 12 de OctubreDepartment of MedicineMedical Center
The University of Deusto Cátedra de Derecho y Genoma HumanoResearch Center, Higher Education
The University of the Basque CountryResearch Center, Higher Education


1Vives Corrons, Joan-LLuis2016-03-17Provided information on healthcare policies as part of the HVP GG2020 Challenge.
2Vives Corrons, Joan-LLuis2016-08-22Information reviewed without changes.

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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.

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