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 Uruguay

Uruguay

Continent:	South America
Capital:	Montevideo
Population:	3477000
Area (in sq km):	176220.0

Haemoglobinopathy-specific healthcare policy information for Uruguay

Healthcare policy		Comment/Info	Reference
SCD newborn screening:	No	Pilot NBS programme started in 2013.	[PMID: 29751732]
Haemoglobinopathies patient registry:	No	Patients with a positive hemoglobinopathy NBS result are reported to the National Registry of Congenital Anomalies and Rare Diseases (RNDCER) [doi.org/10.1590/2326-4594-JIEMS-2021-0008]
Rare disease patient registry:	Yes (National)	National Registry of Congenital Defects and Rare Diseases (RNDCER)
Dedicated treatment centres:	Yes (Regional)	E.g.: Hemato-Oncological Centre at Pereira Rossell Children´s Hospital.
Genetic counselling:	No

Prevalence and incidence of major haemoglobinopathies in Uruguay

Haemoglobinopathy		Comment/Info	Reference
Prevalence of β-thalassaemia carriers:	0.25 % of the population		[PMID: 24130436]
Prevalence of sickle cell disease carriers:	0.76 % of the population		[PMID: 24130436]
Prevalence of α-thalassaemia carriers:	3 % of the population		[PMID: 24130436]
Prevalence of Hb E carriers:	0 % of the population	From: Modell's Haemoglobinopathologist's Almanac.
Prevalence of Hb C carriers:	0 % of the population	From: Modell's Haemoglobinopathologist's Almanac.
Incidence of β-thalassaemia:	2 affected births/year	Representative of all haemoglobinopathies.
Incidence of sickle cell disease:	1 affected births/year	Median value estimated using statistical model and demographic data.	[PMID: 23103089]

Global Burden of Disease data for Uruguay

Migration data for Uruguay

Mutation frequencies in Uruguay

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

α-locus

-α3.7 (type I): 91 %	-22 C>T: 5.3 %
-α4.2: 1.8 %

Detailed mutation frequencies

	Entry ID	Locus	Region	Ethnic Group	Population Type	Sample Size	Study period (from)	Study period (to)	Reference	Comments
	22956	α-locus	Montevideo	Uruguayan	Carriers	57		2015	33769430	Frequencies are shown for alpha-globin gene mutations and were calculated by Ithanet. Study samples were obtained from outpatient clinics from the Hospital de Clínicas - Universidad de la República (UdelaR) in Montevideo (41 chromosomes) and the Hospital Regional Salto - Administración de Servicios de Salud del Estado (ASSE) in Salto 'uy-sa' (16 chromosomes). Samples were investigated by gap-PCR, restriction endonucleases analysis and sequencing.

Organisations in Uruguay

Organisations in Uruguay are currently not available

Microattributions

No microattibutions were provided for Uruguay. 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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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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