title: [Haemoglobinopathy in the 21st century: incidence, diagnosis and heel prick screening].
abstract: OBJECTIVE
  To determine the incidence of severe haemoglobinopathy, to evaluate the effect of heel prick screening, and to identify those children who do not benefit from this early diagnosis.
  
  
  METHODS
  Prospective descriptive study.
  
  
  METHODS
  Registration of all symptomatic and asymptomatic children who between 2003-2009 were newly diagnosed with the a severe form of a hereditary disorder concerning the formation of the alpha haemoglobin chain (HbH disease), or the beta haemoglobin chain (sickle cell disease or beta thalassaemia major) in the Netherlands. Registration was done by collecting anonymised reports from the Dutch Paediatric Surveillance Unit and TNO, and by additional questionnaires.
  
  
  RESULTS
  During the study period, 48 children (range: 36-76) per year were diagnosed with severe haemoglobinopathy. The overall incidence was 2.5 per 10,000 live births. The incidence of sickle cell disease diagnosed by heel prick screening was 2.1 per 10,000 live births and of thalassaemia major 0.6 per 10,000 live births. In 7% of the children with sickle cell disease who were diagnosed without any form of screening, the diagnosis was made on (a life threatening) infection. Twenty-two percent of the children with a severe form of haemoglobinopathy were not born in the Netherlands. The parents of almost half of the children with sickle cell disease originally came from West- or Central Africa. The parents of children with thalassaemia major were mainly from Morocco or various Asiatic countries.
  
  
  CONCLUSIONS
  The number of children with severe haemoglobinopathy in the Netherlands has trebled since 1992. In order for all children to benefit from early diagnosis and preventive treatment, it is advisable that children who originate from risk areas should be tested for haemoglobinopathy when they first arrive in the Netherlands.
authors: Emma Kinderziekenhuis/AMC, afd. Kinderhematologie, Amsterdam.
authors: Monique H
authors: MH
authors: Suijker
authors: E A Lian
authors: EA
authors: Roovers
authors: C J Karin
authors: CJ
authors: Fijnvandraat
authors: Natasja
authors: N
authors: Dors
authors: Rob
authors: R
authors: Rodrigues Pereira
authors: Piero C
authors: PC
authors: Giordano
authors: Paul H
authors: PH
authors: Verkerk
authors: Marjolein
authors: M
authors: Peters
mesh_terms: D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D005006:Ethnicity; D005260:Female; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D009426:Netherlands / Q000453:epidemiology; D011446:Prospective Studies; D011795:Surveys and Questionnaires; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology