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 Portugal

Continent: Europe
Capital: Lisbon
Population: 10676000
Area (in sq km): 92391.0

Haemoglobinopathy-specific healthcare policy information for Portugal

Healthcare policyComment/InfoReference
Prevention programme: NoPremarital/preconception screening offered upon request.[PMID: 24921462]
SCD newborn screening: Yes (National)SCD newborn screening started in January 2022.
Prenatal screening: Yes (Regional)
Antenatal screening: Yes (National)
Haemoglobinopathies patient registry: No[PMID: 30334577]
Rare disease patient registry: NoFrom: RD-Action 2016 report on Rare Disease Activities in Portugal
Dedicated treatment centres: Yes (Regional)
Blood transfusion availability: Yes (National)
Iron chelation availability: Yes (National)
MRI facilities: Yes (National)
Patient associations: Yes (National)www.appdh.org.pt
Genetic counselling: Yes (National)Genetic counselling in Maternity Prenatal Centers.

  Prevalence and incidence of major haemoglobinopathies in Portugal

Prevalence of β-thalassaemia carriers: 1.63 % of the populationCentral region.[PMID: 17082015]
Prevalence of sickle cell disease carriers: 0.12 % of the populationCentral region.[PMID: 17082015]
Prevalence of α-thalassaemia carriers: 7.5 % of the populationRanges between 5 and 10%. From: ENERCA report Dec. 2008.
Prevalence of Hb E carriers: 0.002 % of the population[PMID: 17365984]
Prevalence of Hb C carriers: 0.01 % of the population[PMID: 17365984]
Expected incidence of β-thalassaemia: 6 expected affected births/year[PMID: 24672827]
Incidence of sickle cell disease: 41 affected births/yearMedian value estimated using statistical model and demographic data.[PMID: 23103089]
Known β-thalassaemia patients: 40 patients[PMID: 24672827]
Known sickle cell disease patients: 500 patients[PMID: 24672827]

  Global Burden of Disease data for Portugal

  Migration data for Portugal

Mutation frequencies in Portugal

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


CD 39 (CAG>TAG): 35.46 % (19 % – 53 %)IVS I-1 G>A: 22.23 % (16 % – 32 %)
CD 6 -A: 17.3 % (3.9 % – 40 %)IVS I-6 (T>C): 17.22 % (8 % – 25.9 %)

 Detailed mutation frequencies

Entry IDLocusRegionEthnic GroupPopulation TypeSample SizeStudy period (from)Study period (to)ReferenceComments
23640β-locusCountry-widePortugueseUnknown2809140722Frequencies are shown for beta-globin gene mutations.
23641β-locusCountry-widePortugueseCarriers and Patients56110671033Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the North, Centre and South regions of Portugal.
23642β-locusCountry-widePortugueseCarriers13119938454469Frequencies are shown for beta-globin gene mutations. Study samples were acquired from haematology out-patient clinics throughout Portugal.
23643β-locusNorthPortugueseCarriers167199810233364Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the North regions of Portugal, of which 2% were β-thalassaemia patients.
23644β-locusSouthernPortuguesePatients3319883338791Frequencies are shown for beta-globin gene mutations. Study samples were obtained from the Clinica de Pediatria da Faculdade de Ciencias Medicas de Lisboa, Hospital D. Estefania-Universidade Nova de Lisboa.
23645β-locusCountry-widePortuguesePatients4219921634236Frequencies are shown for beta-globin gene mutations.
23646β-locusCountry-widePortugueseCarriers5119921634236Frequencies are shown for beta-globin gene mutations.

  Organisations in Portugal

A list of all organisations in Portugal 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
Centro Hospitalar e Universitário de Coimbra (CHUC)Hematology DepartmentMedical Center, Diagnostic Center


1Ribeiro, Leticia2016-04-05Provided information on healthcare policies and status of haemoglobinopathies as part of the HVP GG2020 Challenge.
2Bento, Celeste2016-08-29Epidemiological data reviewed and corrected.
3Bento, Celeste2022-03-22Healthcare policies data reviewed and corrected, specifically SCD newborn screening.
4Bento, Celeste2022-11-04Healthcare policies data reviewed and corrected, specifically SCD newborn screening.

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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.