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 Netherlands

Continent: Europe
Capital: Amsterdam
Population: 16645000
Area (in sq km): 41526.0

Haemoglobinopathy-specific healthcare policy information for Netherlands

Healthcare policyComment/InfoReference
Prevention programme: Yes (Regional)Premarital/preconception screening offered upon request.[PMID: 24921462]
SCD newborn screening: Yes (National)NBS for SCD and haemoglobinopathies since 2007/2017. Voluntary but virtually all newborns are tested. From: doi.org/10.3390/ijns5010015
Prenatal screening: NoOffered on an ad hoc basis. Non-invasive prenatal screening is available.[PMID: 28980104]
Antenatal screening: Yes (National)[PMID: 24980780]
Haemoglobinopathies patient registry: Yes (Regional)Regional registry for both thalassaemia and sickle cell disease.[PMID: 24980780]
Rare disease patient registry: NoThere are national RD registries but no national registration platform/databank for RD registration. From: RD Action 2016 Report on Rare Disease Activities in The Netherlands
Dedicated treatment centres: Yes (National)
Blood transfusion availability: Yes (National)
Iron chelation availability: Yes (National)
Patient associations: Yes (National)e.g.: OSCAR Nederland
Genetic counselling: Yes (National)Service is provided but follow-up is poor.

  Prevalence and incidence of major haemoglobinopathies in Netherlands

Prevalence of β-thalassaemia carriers: 0.4 % of the population[PMID: 24672827]
Prevalence of sickle cell disease carriers: 0.18 % of the population[PMID: 24672827]
Prevalence of α-thalassaemia carriers: 3.6 % of the populationFrom: ENERCA report Dec. 2008
Prevalence of Hb E carriers: 0.07 % of the population[PMID: 17365984]
Prevalence of Hb C carriers: 0.1 % of the population[PMID: 17365984]
Expected incidence of β-thalassaemia: 7 expected affected births/yearReport by the national health institute (TNO in collaboration with RIVM).
Expected incidence of sickle cell disease: 37 expected affected births/yearReport by the national health institute (TNO in collaboration with RIVM).
Incidence of sickle cell disease: 82 affected births/yearMedian value estimated using statistical model and demographic data.[PMID: 23103089]
Known β-thalassaemia patients: 250 patientsENERCA report Aug. 2013
Known sickle cell disease patients: 750 patientsENERCA report Aug. 2013

Mutation frequencies in Netherlands

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

 Detailed mutation frequencies

Entry IDLocusRegionEthnic GroupPopulation TypeSample SizeStudy period (from)Study period (to)ReferenceComments
21011β-locusLeidenDutchCarriers and Patients2231991199715178968Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the Leiden University Medical Centre, and were mainly from the city of Leiden or from the surrounding areas.

  Organisations in Netherlands

A list of all organisations in Netherlands stored in the ITHANET database is shown below. For more information, click on the corresponding organisation name or visit the detailed ITHANET Organisations page

NameDepartmentOrganisation type
Erasmus Medical Center (ERASMUS MC)Research Center, Medical Center, Diagnostic Center
European Hematology Association (EHA)Scientific Society
Leiden University Medical Center (LUMC)Department of Clinical Genetics, Haemoglobinopathies LaboratoryResearch Center, Medical Center, Diagnostic Center


1L. Harteveld, Cornelis2016-03-30Provided information on healthcare policies and status of haemoglobinopathies as part of the HVP GG2020 Challenge.
2L. Harteveld, Cornelis2016-08-31Information on healthcare policies and the status of major haemoglobinopathies reviewed and updated.

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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.