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
 Netherlands |
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Haemoglobinopathy-specific healthcare policy information for Netherlands
| Healthcare policy | Comment/Info | Reference | |
|---|---|---|---|
| Prevention programme: | Yes (Regional) | Premarital/preconception screening offered upon request. | [PMID: 24921462] |
| SCD newborn screening: | Yes (National) | Since 2017 in the Netherlands, the Dutch Caribbean, Bonaire, St Eustatius and Saba. | [PMID: 33072975] |
| Prenatal screening: | No | Offered on an ad hoc basis. Non-invasive prenatal screening is available. | [PMID: 28980104] |
| Antenatal screening: | Yes (National) | [PMID: 24980780] | |
| Haemoglobinopathies patient registry: | No | Sickle Cell Outcome REsearch (SCORE) consortium; includes all SCD comprehensive care centres and research institutes involved in clinical SCD research in the Netherlands [ERN-EuroBloodNet_Report on existing registries for RHD_2018] | [PMID: 30334577] |
| Rare disease patient registry: | No | There 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
| Haemoglobinopathy | Comment/Info | Reference | |
|---|---|---|---|
| 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 population | From: 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/year | Report by the national health institute (TNO in collaboration with RIVM). | |
| Expected incidence of sickle cell disease: | 37 expected affected births/year | Report by the national health institute (TNO in collaboration with RIVM). | |
| Incidence of sickle cell disease: | 82 affected births/year | Median value estimated using statistical model and demographic data. | [PMID: 23103089] |
| Known β-thalassaemia patients: | 250 patients | ENERCA report Aug. 2013 | |
| Known sickle cell disease patients: | 750 patients | ENERCA report Aug. 2013 |
Global Burden of Disease data for Netherlands
Migration data for Netherlands
Mutation frequencies in Netherlands
Overview (most frequent mutations with their observed average values and range)
β-locus
| CD 39 CAG>TAG [Gln>STOP]: 17 % | IVS I-5 (G>C): 10.1 % |
| IVS I-110 G>A: 9.8 % | CD 41/42 (-CTTT): 4.9 % |
Detailed mutation frequencies
| Entry ID | Locus | Region | Ethnic Group | Population Type | Sample Size | Study period (from) | Study period (to) | Reference | Comments | |
|---|---|---|---|---|---|---|---|---|---|---|
| 23199 | β-locus | Leiden | Dutch | Carriers and Patients | 223 | 1991 | 1997 | 15178968 | Frequencies 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
| Name | Department | Organisation 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 Laboratory | Research Center, Medical Center, Diagnostic Center |
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | L. Harteveld, Cornelis | 2016-03-30 | Provided information on healthcare policies and status of haemoglobinopathies as part of the HVP GG2020 Challenge. |
| 2 | L. Harteveld, Cornelis | 2016-08-31 | Information 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.