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
 Portugal |
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Haemoglobinopathy-specific healthcare policy information for Portugal
| Healthcare policy | Comment/Info | Reference | |
|---|---|---|---|
| Prevention programme: | No | Premarital/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: | No | From: 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
| Haemoglobinopathy | Comment/Info | Reference | |
|---|---|---|---|
| Prevalence of β-thalassaemia carriers: | 1.63 % of the population | Central region. | [PMID: 17082015] |
| Prevalence of sickle cell disease carriers: | 0.12 % of the population | Central region. | [PMID: 17082015] |
| Prevalence of α-thalassaemia carriers: | 7.5 % of the population | Ranges 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/year | Median 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)
β-locus
| CD 39 CAG>TAG [Gln>STOP]: 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 ID | Locus | Region | Ethnic Group | Population Type | Sample Size | Study period (from) | Study period (to) | Reference | Comments | |
|---|---|---|---|---|---|---|---|---|---|---|
| 23640 | β-locus | Country-wide | Portuguese | Unknown | 280 | 9140722 | Frequencies are shown for beta-globin gene mutations. | |||
| 23641 | β-locus | Country-wide | Portuguese | Carriers and Patients | 561 | 10671033 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the North, Centre and South regions of Portugal. | |||
| 23642 | β-locus | Country-wide | Portuguese | Carriers | 131 | 1993 | 8454469 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from haematology out-patient clinics throughout Portugal. | ||
| 23643 | β-locus | North | Portuguese | Carriers | 167 | 1998 | 10233364 | Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the North regions of Portugal, of which 2% were β-thalassaemia patients. | ||
| 23644 | β-locus | Southern | Portuguese | Patients | 33 | 1988 | 3338791 | Frequencies 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. | ||
| 23645 | β-locus | Country-wide | Portuguese | Patients | 42 | 1992 | 1634236 | Frequencies are shown for beta-globin gene mutations. | ||
| 23646 | β-locus | Country-wide | Portuguese | Carriers | 51 | 1992 | 1634236 | Frequencies 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
| Name | Department | Organisation type |
|---|---|---|
| Centro Hospitalar e Universitário de Coimbra (CHUC) | Hematology Department | Medical Center, Diagnostic Center |
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Ribeiro, Leticia | 2016-04-05 | Provided information on healthcare policies and status of haemoglobinopathies as part of the HVP GG2020 Challenge. |
| 2 | Bento, Celeste | 2016-08-29 | Epidemiological data reviewed and corrected. |
| 3 | Bento, Celeste | 2022-03-22 | Healthcare policies data reviewed and corrected, specifically SCD newborn screening. |
| 4 | Bento, Celeste | 2022-11-04 | Healthcare 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.