title: Epidemiology of rare anaemias in Europe.
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.
authors.affiliation: Université Libre de Bruxelles, Bruxelles, Belgium. bgulbis@ulb.ac.be
authors.forename: Beatrice
authors.initials: B
authors.lastname: Gulbis
authors.forename: Androulla
authors.initials: A
authors.lastname: Eleftheriou
authors.forename: Michael
authors.initials: M
authors.lastname: Angastiniotis
authors.forename: Sarah
authors.initials: S
authors.lastname: Ball
authors.forename: Jordi
authors.initials: J
authors.lastname: Surrallés
authors.forename: María
authors.initials: M
authors.lastname: Castella
authors.forename: Hermann
authors.initials: H
authors.lastname: Heimpel
authors.forename: Anita
authors.initials: A
authors.lastname: Hill
authors.forename: Joan-Lluis Vives
authors.initials: JL
authors.lastname: Corrons
mesh_terms: D000740:Anemia / Q000453:epidemiology* / Q000235:genetics; D029503:Anemia, Diamond-Blackfan / Q000453:epidemiology; D000742:Anemia, Dyserythropoietic, Congenital / Q000453:epidemiology; D005060:Europe / Q000453:epidemiology; D005199:Fanconi Anemia / Q000453:epidemiology; D005260:Female; D006453:Hemoglobinopathies / Q000453:epidemiology; D006457:Hemoglobinuria, Paroxysmal / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015995:Prevalence; D035583:Rare Diseases / Q000453:epidemiology* / Q000235:genetics; D012042:Registries