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 Australia

Australia

Continent:	Oceania
Capital:	Canberra
Population:	21515754
Area (in sq km):	7686850.0

Haemoglobinopathy-specific healthcare policy information for Australia

Healthcare policy		Comment/Info	Reference
Prevention programme:	Yes (Regional)	Premarital/preconception screening offered upon request.	[PMID: 27040959]
SCD newborn screening:	No	From: Thalassaemia Reports 2012, Pan-Asian Conference
Prenatal screening:	Yes (National)		[PMID: 27040959]
Antenatal screening:	No	Offered upon request. From: Thalassaemia Reports 2012, TIF Pan-Asian Conference.
Haemoglobinopathies patient registry:	Yes (National)	Australian Haemoglobinopathy Registry [https://gardn.org.au/registries/australian-haemoglobinopathy-registry/]
Rare disease patient registry:	No	Rare Diseases Clinical Research Network Contact Registry. International - available to Australians [https://gardn.org.au/registries/rare-diseases-clinical-research-network-contact-registry/]
Dedicated treatment centres:	Yes (National)	From: Thalassaemia Reports 2012, TIF Pan-Asian Conference.
Blood transfusion availability:	Yes (National)		[PMID: 27040959]
Iron chelation availability:	Yes (National)	Available through the Pharmaceutical Benefits Scheme	[PMID: 27040959]
MRI facilities:	Yes (Regional)	From: Thalassaemia Reports 2012, TIF Pan-Asian Conference.
Patient associations:	Yes (National)	E.g.: Thalassaemia Australia Inc.; Thalassaemia Society of New South Wales.

Prevalence and incidence of major haemoglobinopathies in Australia

Haemoglobinopathy		Comment/Info	Reference
Prevalence of β-thalassaemia carriers:	0.4 % of the population		[PMID: 27040959]
Prevalence of Hb E carriers:	0.4 % of the population		[PMID: 27040959]
Expected incidence of β-thalassaemia:	3 expected affected births/year		[PMID: 24672827]
Incidence of sickle cell disease:	5 affected births/year	Median value estimated using statistical model and demographic data.	[PMID: 23103089]
Known β-thalassaemia patients:	332 patients		[PMID: 24672827]

Global Burden of Disease data for Australia

Migration data for Australia

Mutation frequencies in Australia

No mutation frequencies are currently available for Australia

Organisations in Australia

A list of all organisations in Australia 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 Variome Project (HVP)	Global Globin 2020 Challenge	Research Project/Multi-Center Study, Scientific Organisation/Network
Royal Children's Hospital (RCH)		Research Center, Medical Center, Higher Education

Microattributions

No microattibutions were provided for Australia. 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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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:
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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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