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Epidemiology of Rare Anaemias in Europe

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Rare Diseases Epidemiology

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 686))

Abstract

Registry and epidemiological data of Rare Anaemias (RA) in Europe is in general still incomplete and/or partially documented. One important issue is the increasing prevalence of haemoglobin disorders (HD) due to migrations from high prevalence areas. The size of the problem, particularly for sickle cell disease (SCD), is already having an impact on health services in many European countries. The best known cause of rare anaemias associated with congenital haemolytic anaemia (CHA) in Europe is Hereditary Spherocytosis (HS) a red blood cell (RBC) membrane defect with a prevalence of 1 to 5 cases per 10.000 individuals. Some other causes of CHA are extremely rare and only few individual cases have been described worldwide (i.e. some RBC enzymopathies). Congenital defects of erythropoiesis are less frequent Diamond–Blackfan Anaemia (DBA) and Fanconi Anaemia (FA) exhibit a very low prevalence ranging from 4 to 7 per million live births. Congenital Dyserythropoietic Anaemia (CDA), a genetically heterogenous group, is still less frequent and exhibits a large variability of frequency depending on the European region: 0.1–3.0 cases per million births In addition many cases are known from a large autosomal dominant family in Sweden. Although incidence of Paroxysmal Nocturnal Haemoglobinuria (PNH) in Europe is still unknown, data collection from different sources has given quotes of 1 case per 100,000 individuals to 5 cases per million births.

*On behalf of ENERCA Consortium

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Acknowledgements

Executive Agency for Health and Consumers. European Commission Health Programme 2008. We are indebted to Maria del Mar Mañu Pereira and Laura Olaya Costa, Manager and Assistant respectively of ENERCA Project, for the help in the preparation of this manuscript.

Fanconi anemia research in Surrallés’ laboratory is funded by the Generalitat de Catalunya (2009 SGR 489), Genoma España (FANCOGENE Project), the Spanish Ministry of Science and Innovation (projects FIS06-1099, CIBERER CB06/07/0023, SAF2006-3440, SAF2009-11936), Plan E and the European Regional Development Funds (FEDER). CIBERER is an initiative of the Instituto de Salud Carlos III, Spain.

The German Registry on CDAs is supported by ENERCA, by the German network on bone marrow failure syndromes and the University of Ulm/ Germany.

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Authors and Affiliations

  1. Head of Department of Clinical Chemistry, Hôpital Erasme, Université Libre de Bruxelles, Bruxelles, Belgium

    Beatrice Gulbis* MD, PhD (Prof)

  2. Thalassemia International Federation, St. George’s Hospital Medical School, London, UK

    Androulla Eleftheriou* BSc Hons, MSc, PhD (Dip Mgt. Executive Director)

  3. Thalassemia International Federation, Nicosia, Cyprus

    Michael Angastiniotis MD, DCH (Diploma in Child Health)

  4. Reader/Hon Consultant in Paediatric Haematology, St George’s Hospital Medical School, Cranmer Terrace, London, UK

    Sarah Ball MD

  5. Group of Genome Instability and DNA repair, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Barcelona, Spain

    Jordi Surrallés PhD (Prof. Chairman of Genetics)

  6. Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III, Bellaterra, Barcelona, Spain

    Jordi Surrallés PhD (Prof. Chairman of Genetics)

  7. Group of Genome Instability and DNA repair, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, and Centre for Biomedical Network Research on Rare Diseases (CIBERER) Instituto de Salud Carlos III, Bellaterra, Barcelona, Spain

    María Castella MD, PhD

  8. German Registry on Congenital Dyserythropoietic anemias (CDAs), Medizinische Universitätsklinik, KFA 210, D-89081, Ulm, Germany

    Hermann Heimpel* Prof. Emerit. MD, FRCPath

  9. Consultant Haematologist & Honorary Senior Lecturer, Bradford Teaching Hospitals NHS Foundation Trust & University of Leeds, Leeds, UK

    Anita Hill MBChB (Hons), MRCP, FRCPath, PhD

  10. Red Cell Pathology Unit, Hospital Clinic I Provincial, University of Barcelona, Barcelona, Spain

    Joan-Lluis Vives Corrons*

Authors
  1. Beatrice Gulbis* MD, PhD
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  2. Androulla Eleftheriou* BSc Hons, MSc, PhD
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  3. Michael Angastiniotis MD, DCH (Diploma in Child Health)
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  4. Sarah Ball MD
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  5. Jordi Surrallés PhD
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  6. María Castella MD, PhD
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  7. Hermann Heimpel* Prof. Emerit. MD, FRCPath
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  8. Anita Hill MBChB (Hons), MRCP, FRCPath, PhD
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  9. Joan-Lluis Vives Corrons*
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Corresponding author

Correspondence to Joan-Lluis Vives Corrons* .

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Editors and Affiliations

  1. , Instituto de Investigaciñon en Enfermeda, Instituto de Salud Carlos III, Monforte de Lemos 5, Madrid, 28029, Spain

    Manuel Posada de la Paz

  2. , Office of Rare Diseases Research, National Institutes of Health, Executive Boulevard 6100, Bethesda, 20892-7518, USA

    Stephen C. Groft

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Gulbis*, B. et al. (2010). Epidemiology of Rare Anaemias in Europe. In: Posada de la Paz, M., Groft, S. (eds) Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology, vol 686. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9485-8_22

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