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 Germany


Germany
Continent: Europe
Capital: Berlin
Population: 81802257
Area (in sq km): 357021.0

Haemoglobinopathy-specific healthcare policy information for Germany

Healthcare policyComment/InfoReference
Prevention programme: NoPremarital/preconception screening offered upon requested.[PMID: 24921462]
SCD newborn screening: Yes (National)The Federal Joint Committee (“Gemeinsamer Bundesausschuss”, G-BA) decided to introduce NBS for SCD on 20 Nov. 2020; Approved in 2021
Prenatal screening: NoNon-invasive prenatal screening is available.
Antenatal screening: NoOffered upon request.[PMID: 24980780]
Haemoglobinopathies patient registry: Yes (National)Registry of SCD patients established by the German Society of Pediatric Oncology and Hematology (GPOH) in 2015 - voluntary.[PMID: 28383793]
Rare disease patient registry: NoCentral information portal for RDs, but no central registry. From: RD-Action 2014 report on Rare Disease Activities in Germany
Patient associations: Yes (National)e.g.: Interessengemeinschaft Sichelzellkrankheit und Thalassaemie e.V. (IST E.V.), Seltene Anaemien Deutschland (SAM), Thalassaemie Verein Ulm e.V.

  Prevalence and incidence of major haemoglobinopathies in Germany

HaemoglobinopathyComment/InfoReference
Prevalence of β-thalassaemia carriers: 0.28 % of the population[PMID: 24672827]
Prevalence of sickle cell disease carriers: 0.06 % of the populationOther papers report the presence of HbS solely among the immigrant population.[PMID: 24672827]
Prevalence of α-thalassaemia carriers: 0.01 % of the populationFrom: ENERCA report Dec. 2008
Prevalence of Hb E carriers: 0.02 % of the population[PMID: 17365984]
Prevalence of Hb C carriers: 0.01 % of the populationHbC is not found in native Germans [PMID: 28383793].[PMID: 17365984]
Expected incidence of β-thalassaemia: 1 expected affected births/year[PMID: 24672827]
Incidence of sickle cell disease: 100 affected births/yearRanges from 100 to 160 SCD births/yr based on prevalence data from the four pilot NBS studies and an annual birth number of 800,000[PMID: 33525323]
Known β-thalassaemia patients: 1500 patientsFrom: ENERCA report Aug. 2013
Known sickle cell disease patients: 3000 patientsFrom: ENERCA report Aug. 2013

  Global Burden of Disease data for Germany

  Migration data for Germany

Mutation frequencies in Germany

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

 β-locus

CD 39 CAG>TAG [Gln>STOP]: 27.1 % (21.7 % – 32.5 %)IVS I-110 G>A: 24.8 % (22 % – 27.6 %)
IVS I-1 G>A: 5.9 % (4.3 % – 7.5 %)IVS I-6 (T>C): 5.15 % (1 % – 9.3 %)

 Detailed mutation frequencies

Entry IDLocusRegionEthnic GroupPopulation TypeSample SizeStudy period (from)Study period (to)ReferenceComments
23016β-locusCountry-wideGermanPatients25619979163586Frequencies are shown for beta-globin gene mutations. Study samples were acquired from the national reference laboratory for haemoglobin analysis.
23017β-locusCountry-wideMulti-ethnicPatients44219979163586Frequencies are shown for beta-globin gene mutations. Study samples were acquired from health clinics throughout Germany and were of multi-ethnic origin, the majority being Italian, Turks and Greek.

  Organisations in Germany

A list of all organisations in Germany 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
Amsterdam Street Children HospitalDepartment of Pediatric Hematology and OncologyMedical Center
Charité - Universitätsmedizin Berlin (Charité)Department of Pediatrics, Division of Oncology and HematologyResearch Center, Medical Center, Diagnostic Center
European Molecular Biology Organization (EMBO)Scientific Society
Ulm University Medical Centre (ULM)Department of Paediatric and Adolescent Medicine Ulm Medical Center, Higher Education, Diagnostic Center
University Hospital Düsseldorf Department of Paediatric Oncology, Haematology and Clinical Immunology Medical Center, Higher Education, Diagnostic Center
University Hospital Hamburg-Eppendorf (UKE)Department of Paediatric Haematology and OncologyResearch Center, Medical Center, Diagnostic Center
University of Freiburg - Albert-Ludwigs-Universität FreiburgEpigenetics and Functional GeneticsDiagnostic Center

 Microattributions

No microattibutions were provided for Germany. Please contact us, if you are willing to review existing information or provide new data.

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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.