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 Japan

Japan

Continent:	Asia
Capital:	Tokyo
Population:	127288000
Area (in sq km):	377835.0

Haemoglobinopathy-specific healthcare policy information for Japan

Healthcare policy		Comment/Info	Reference
Prevention programme:	No	Premarital/preconception screening offered upon request.	[PMID: 24921462]
SCD newborn screening:	No	SCD is not included in the neonatal screening program [From: https://semi-sapporo.com/afterbirthcat/massscreenings/]
Antenatal screening:	No	Offered upon request.	[PMID: 24921462]
Rare disease patient registry:	No	The Agency for Medical Research and Development (AMED) initiated in 2017 the National Platform for Rare Diseases Data Registry of Japan (RADDAR‐J) project.	[PMID: 31317070]

Prevalence and incidence of major haemoglobinopathies in Japan

Haemoglobinopathy		Comment/Info	Reference
Prevalence of β-thalassaemia carriers:	0.03 % of the population		[PMID: 9101288]

Global Burden of Disease data for Japan

Migration data for Japan

Mutation frequencies in Japan

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

β-locus

Init CD ATG>AGG: 21.8 %	-31 (A>G): 17.2 %
CD 90 GAG>TAG: 16.8 %	IVS II-654 C>T: 14.6 %

Detailed mutation frequencies

	Entry ID	Locus	Region	Ethnic Group	Population Type	Sample Size	Study period (from)	Study period (to)	Reference	Comments
	23349	β-locus	Country-wide	Japanese	Unknown	264			19497317	Frequencies are shown for beta-globin gene mutations.

Organisations in Japan

Organisations in Japan are currently not available

Microattributions

No microattibutions were provided for Japan. 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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To be included in ITHANET Organisations & Experts

Name:		Organisation's name:
Surname:		Organisation's brief description:
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Expertise/Research interests:		Organisation's City:
Address:		Organisation's Country:
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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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