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 Argentina

Argentina

Continent:	South America
Capital:	Buenos Aires
Population:	41343201
Area (in sq km):	2766890.0

Haemoglobinopathy-specific healthcare policy information for Argentina

Healthcare policy		Comment/Info	Reference
SCD newborn screening:	No	SCD is not included in the official neonatal screening program	[PMID: 30051615]
Prenatal screening:	No		[PMID: 22528519]
Rare disease patient registry:	No	A national policy on rare diseases has been approved (2011) and is awaiting implementation.	[PMID: 32106873]
Patient associations:	Yes (National)	E.g.: Thalassaemia Foundation of Argentina FUNDATAL.

Prevalence and incidence of major haemoglobinopathies in Argentina

Haemoglobinopathy		Comment/Info	Reference
Prevalence of β-thalassaemia carriers:	1.35 % of the population		[PMID: 24672827]
Prevalence of sickle cell disease carriers:	0.7 % of the population		[PMID: 24672827]
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.
Expected incidence of β-thalassaemia:	33 expected affected births/year		[PMID: 24672827]
Expected incidence of sickle cell disease:	44 expected affected births/year		[PMID: 24672827]
Incidence of sickle cell disease:	4 affected births/year	Median value estimated using statistical model and demographic data.	[PMID: 23103089]

Global Burden of Disease data for Argentina

Migration data for Argentina

Mutation frequencies in Argentina

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

β-locus

CD 39 CAG>TAG [Gln>STOP]: 42.12 % (30.8 % – 47 %)	IVS I-110 G>A: 28.9 % (16.3 % – 53.8 %)
IVS I-1 G>A: 11.6 % (3.8 % – 22.5 %)	CD 6 GAG>GTG [Glu>Val] (HbS): 11.6 %

Detailed mutation frequencies

Entry ID	Locus	Region	Ethnic Group	Population Type	Sample Size	Study period (from)	Study period (to)	Reference	Comments
23564	β-locus	Buenos Aires	Argentinean	Carriers and Patients	85	1993	1995	9067494	Frequencies are shown for beta-globin gene mutations from both carriers and patients. Study samples were acquired from one of the largest referral centers for pediatric patients in Buenos Aires. These were mainly from the Province of Buenos Aires with only a small fraction (9%) from other Provinces.
23565	β-locus	Tucuman	Argentinean	Carriers	46	2011	2013	25347257	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Instituto de Bioquimica Aplicada, Tucuman.
23566	β-locus	Country-wide	Argentinean	Carriers and Patients	280		2004	15257926	Frequencies are shown for beta-globin gene mutations. Study samples originated from different areas of Argentina.
23567	β-locus	Cordoba	Argentinean	Carriers	26		1997	9034292	Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Centro Medico Bancario de Cordoba, Cordoba. Two of these were beta-thalassaemia patients.

Organisations in Argentina

Organisations in Argentina are currently not available

Microattributions

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

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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.

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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