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 Brazil

Brazil

Continent:	South America
Capital:	Brasília
Population:	201103330
Area (in sq km):	8511965.0

Haemoglobinopathy-specific healthcare policy information for Brazil

Healthcare policy		Comment/Info	Reference
SCD newborn screening:	Yes (National)	SCD and other haemoglobinopathies are included in the Brazilian National Neonatal Screening Program (NNSP). Since 2001. Mandatory.	[PMID: 33072971]
Haemoglobinopathies patient registry:	No	National registry for SCD patients is being set up (2019). Central reporting of cases in the Hospital Information System of the Brazilian National Health Services [GG2020 Conference 2016]	[PMID: 33072971]
Rare disease patient registry:	No	Rare diseases Ordinance 199 (2014) but implementation is slow .	[PMID: 32106873]
Dedicated treatment centres:	Yes (National)	From: PGPR, Global Sickle Cell Disease Network.
Blood transfusion availability:	Yes (National)	From: PGPR, Global Sickle Cell Disease Network.
Iron chelation availability:	Yes (National)	Practice guidelines by the Scientific Committee of Associação Brasileira de Thalassemia (ABRASTA)
MRI facilities:	Yes (Regional)	From: PGPR, Global Sickle Cell Disease Network.
Patient associations:	Yes (National)	E.g.: Brazilian Association of Thalassaemia (ABRASTA)

Prevalence and incidence of major haemoglobinopathies in Brazil

Haemoglobinopathy		Comment/Info	Reference
Prevalence of β-thalassaemia carriers:	0.3 % of the population	National Health Survey 2014-2015	[PMID: 31596378]
Prevalence of sickle cell disease carriers:	2.49 % of the population	National Health Survey 2014-2015	[PMID: 31596378]
Prevalence of α-thalassaemia carriers:	1.37 % of the population	Extends between 0.55-1.90 depending on the region.
Prevalence of Hb E carriers:	0.001 % of the population	Newborn Hemoglobinopathy Screening Program in the State of Rio de Janeiro.	[PMID: 24038856]
Prevalence of Hb C carriers:	0.04 % of the population	National Health Survey 2014-2015	[PMID: 31596378]
Expected incidence of β-thalassaemia:	155 expected affected births/year		[PMID: 24672827]
Expected incidence of sickle cell disease:	2417 expected affected births/year		[PMID: 24672827]
Incidence of sickle cell disease:	3244 affected births/year	Median value estimated using statistical model and demographic data.	[PMID: 23103089]
Known β-thalassaemia patients:	504 patients		[PMID: 28366028]
Known sickle cell disease patients:	50 patients	Extends between 25-50000.	[PMID: 24672827]

Global Burden of Disease data for Brazil

Migration data for Brazil

Mutation frequencies in Brazil

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

β-locus

CD 39 CAG>TAG [Gln>STOP]: 34.62 % (3.5 % – 64.3 %)	IVS I-6 (T>C): 27.99 % (7.1 % – 62.8 %)
IVS I-1 G>A: 15.68 % (5.7 % – 38.5 %)	IVS I-110 G>A: 12.77 % (2.7 % – 20 %)

Detailed mutation frequencies

Entry ID	Locus	Region	Ethnic Group	Population Type	Sample Size	Study period (from)	Study period (to)	Reference	Comments
23597	β-locus	Pernambuco	Brazilian	Carriers and Patients	86		2003	14649311	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Haematology Hospital of Hemope Foundation located in Recife, capital city of the State of Pernambuco.
23598	β-locus	Sao Paulo	Brazilian	Patients	70		1998	9629495	Frequencies are shown for beta-globin gene mutations. Most of these patients were of Italian ancestry; the remainder were of Portuguese, Greek, Spanish, Lebanese or unidentified origin.
23599	β-locus	Porto Alegre	Brazilian	Carriers	116	2003	2004	18071703	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Haemoglobin Centre of the Pharmacy School of the Federal University of Rio Grande do Sul state. Three of these were beta-thalassaemia patients.
23600	β-locus	Para	Brazilian	Carriers and Patients	37		2016	26372288	Frequencies are shown for beta-globin gene mutations. Study samples originated from the Brazilian Amazon and were collected from the Centre of Haemotherapy and Haematology of the Para Foundation (HEMOPA), in Belem, the state capital of Para, Northern Brazil.
23601	β-locus	Campinas	Brazilian	Carriers	70		1993	8411081	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the region of Campinas in south eastern Brazil.
23602	β-locus	Rio Grande do Norte	Brazilian	Carriers	39	2008	2009	21931514	Frequencies are shown for beta-globin gene mutations from both carriers and patients. Study samples were recruited from referrals to the Integrated Laboratory Clinical Analysis at Rio Grande do Norte Federal University. Four of these were beta-thalassaemia patients.
23603	β-locus	Rio de Janeiro	Brazilian	Patients	48		2017	28366028	Frequencies are shown for beta-globin gene mutations. Study samples were recruited from the State Institute of Hematology ‘Arthur de Siqueira Cavalcanti’ (HEMORIO), Rio de Janeiro.

Organisations in Brazil

A list of all organisations in Brazil 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
University of Campinas (UNICAMP)		Higher Education

Microattributions

No microattibutions were provided for Brazil. Please contact us, if you are willing to review existing information or provide new data.

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.

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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).

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