IthaMaps

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

Spain

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

Haemoglobinopathy-specific healthcare policy information for Spain

Healthcare policy		Comment/Info	Reference
Prevention programme:	No	Premarital/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:	No	Offered 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:	No	No national program; exercised by some hospitals based on their own protocols.

Prevalence and incidence of major haemoglobinopathies in Spain

Haemoglobinopathy		Comment/Info	Reference
Prevalence of β-thalassaemia carriers:	1.64 % of the population	Extends between 0.1-2%.	[PMID: 24672827]
Prevalence of sickle cell disease carriers:	0.47 % of the population	Universal 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/year	For beta-thalassaemia major.
Incidence of sickle cell disease:	63 affected births/year
Known β-thalassaemia patients:	75 patients	Dec. 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 patients	Dec. 2017 REPHem data. Possibly underestimated as only recently haematologists of adult patients joined the registry.	[PMID: 32113697]

Global Burden of Disease data for Spain

Migration data for Spain

Mutation frequencies in Spain

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

β-locus

CD 39 CAG>TAG [Gln>STOP]: 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 ID	Locus	Region	Ethnic Group	Population Type	Sample Size	Study period (from)	Study period (to)	Reference	Comments
23369	β-locus	Country-wide	Spanish	Carriers and Patients	308		2001	11570720	Frequencies 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.
23370	β-locus	Andalucia	Spanish	Unknown	45			11570720	Frequencies are shown for beta-globin gene mutations.
23371	β-locus	Catalonia	Spanish	Unknown	215			11570720	Frequencies are shown for beta-globin gene mutations. Catalonia consists of four provinces: Barcelona, Girona, Lleida, and Tarragona.
23372	β-locus	Huelva	Spanish	Unknown	18			11570720	Frequencies are shown for beta-globin gene mutations.
23373	β-locus	Valencia	Spanish	Unknown	43			11570720	Frequencies are shown for beta-globin gene mutations.
23374	β-locus	Mallorca	Spanish	Unknown	98			11570720	Frequencies are shown for beta-globin gene mutations.
23375	β-locus	Barcelona	Spanish	Unknown	58			10680145	Frequencies are shown for beta-globin gene mutations.
23376	β-locus	Alta Extremadura	Spanish	Carriers	65		1997	9140722	Frequencies are shown for beta-globin gene mutations.
23377	β-locus	Toledo	Spanish	Unknown	133			9140722	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Spanish regions of Todero, Extremadura and Huelva.
23378	β-locus		Spanish	Patients	58		1988	2897787	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the South of Spain, from Galicia, and from the island of Minorca.
23379	β-locus	Oriental Andalusia Area	Spanish	Carriers	45		1994	9140722	Frequencies are shown for beta-globin gene mutations.
23380	β-locus	Huelva	Spanish	Carriers	18	1993	1996	8602996	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from several towns in Huelva province.
23381	β-locus	Balearic Islands	Spanish	Carriers	172		2012	22376243	Frequencies 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

Name	Department	Organisation type
European Network for Rare and Congenital Anaemias (ENERCA)		Research Project/Multi-Center Study, Scientific Organisation/Network
Hospital Clínic de Barcelona		Research Center, Medical Center
Hospital Clinicico San Carlos		Medical Center
Hospital Universitario 12 de Octubre	Department of Medicine	Medical Center
The University of Deusto	Cátedra de Derecho y Genoma Humano	Research Center, Higher Education
The University of the Basque Country		Research Center, Higher Education

Microattributions

A/A	Contributor(s)	Date	Comments
1	Vives Corrons, Joan-LLuis	2016-03-17	Provided information on healthcare policies as part of the HVP GG2020 Challenge.
2	Vives Corrons, Joan-LLuis	2016-08-22	Information 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.

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.

Note: The information you provide for the specific country will appear on the IthaMaps website and your contribution will be acknowledged.

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Healthcare Policies

Health-policy	Select one Answer	Comment
Prevention programme
SCD newborn screening
Prenatal screening
Antenatal screening
Haemoglobinopathies patient registry
Rare disease patient registry
Dedicated treatment centres
Blood transfusion availability
Iron chelation availability
MRI facilities
Patient associations
Genetic counselling

Status of major Haemoglobinopathies

In Expected Incidence of β-thalassaemia and sickle cell disease please provide the number of expected affected births/year (without prevention).
In Incidence of β-thalassaemia and sickle cell disease please provide the number of affected births/year (after prevention).

Haemoglobinopathy	Provide value		Comment
Prevalence of β-thalassaemia carriers		% of the population
Prevalence of sickle cell disease carriers		% of the population
Prevalence of α-thalassaemia carriers		% of the population
Prevalence of Hb E carriers		% of the population
Prevalence of Hb C carriers		% of the population
Expected incidence of β-thalassaemia		expected affected births/year
Expected incidence of sickle cell disease		expected affected births/year
Expected incidence of α-thalassaemia		expected affected births/year
Incidence of β-thalassaemia		affected births/year
Incidence of sickle cell disease		affected births/year
Incidence of α-thalassaemia		affected births/year
Known β-thalassaemia patients		patients
Known sickle cell disease patients		patients

Mutation Frequencies

Please provide details about publications reporting mutation frequencies in the country of reference (either country-wide studies or region-specific studies).

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