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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Healthcare information:
Major haemoglobinopathies:

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General information for South Korea

South Korea

Continent:	Asia
Capital:	Seoul
Population:	48422644
Area (in sq km):	98480.0

Haemoglobinopathy-specific healthcare policy information for South Korea

Healthcare policy		Comment/Info	Reference
Rare disease patient registry:	No	Patient registration in the Korean Rare Disease Knowledge Base (KRDK) and the National Health Insurance Service (NHIS) database.	[PMID: 30777110]

Prevalence and incidence of major haemoglobinopathies in South Korea

Haemoglobinopathy		Comment/Info	Reference
Prevalence of β-thalassaemia carriers:	1.7 % of the population		[PMID: 30430775]
Prevalence of α-thalassaemia carriers:	6.03 % of the population		[PMID: 30430775]

Global Burden of Disease data for South Korea

Migration data for South Korea

Mutation frequencies in South Korea

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

β-locus

Init CD ATG>AGG: 28.9 %	CD 17 AAG>TAG [Lys>STOP]: 18.4 %
IVS II-1 G>A: 10.5 %	IVS II-1 G>A and CD 91 CTG>TTG [Leu>Leu]: 10.5 %

Detailed mutation frequencies

	Entry ID	Locus	Region	Ethnic Group	Population Type	Sample Size	Study period (from)	Study period (to)	Reference	Comments
	20908	β-locus	Country-wide	Korean	Patients	38	1994	2000	12144056	Frequencies are shown for beta-globin gene mutations from both carriers and patients. Study samples were referred from regional hospitals throughout South Korea to the Seoul National University Hospital.

Organisations in South Korea

A list of all organisations in South Korea 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
Human Genome Organisation (HUGO)		Scientific Organisation/Network

Microattributions

No microattibutions were provided for South Korea. 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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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).

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