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

Search

Search Country:		OR	Search for:		Show organisations

Healthcare information:
Major haemoglobinopathies:

Mutation search

Select locus:		Select mutation:

More Fewer search options

General information for Portugal

Portugal

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

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 (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
Polytechnic University of Lisbon (IPL)	Escola Superior de tecnologia de Saúde de Lisboa	Research Center, Higher Education

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.

To provide new epidemiological information and/or report mistakes, please register/log in first or use the Contact Us form.

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.

Country:

Contributor's details

To be included in ITHANET Organisations & Experts

Name:		Organisation's name:
Surname:		Organisation's brief description:
Title:		Organisation's address:
Expertise/Research interests:		Organisation's City:
Address:		Organisation's Country:
City:		Organisation's website:
Country:		E-mail:
ORCID

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).

Show on map:		Information to display:
Minimum sample size: