Newborn Screening for Sickle Cell Disease in Europe

International Journal of Neonatal Screening

Raffaella Colombatti¹  Stephan Lobitz²  Béatrice Gulbis³  Elena Cela⁴  Mariane de Montalembert⁵  Catherine Badens⁶  Jacques Elion⁷  Olivier Ketelslegers⁸  Bichr Allaf⁹  MarelleJ. Bouva^1,10  Corrina McMahon^1,11  Ian Brincat^1,12  Yvonne Daniel^1,13  Joan Henthorn^1,13  Cathy Coppinger^1,13  Allison Streetly^1,14 

[1] Medicine, King’s College London, London WC2R2LS, UK;Department of Child and Maternal Health, Clinic of Pediatric Hematology/Oncology, Azienda Ospedaliera-Università di Padova, 35129 Padova, Italy;Department of Clinical Chemistry, Cliniques Universitaires de Bruxelles, Hôpital Erasme—ULB, 1070 Bruxelles, Belgium;Department of Pediatric Oncology/Hematology, Hospital Universitario General Gregorio Marañón, Facultad de Medicina, Universidad Complutense Madrid, 28007 Madrid, Spain;Department of Pediatrics, Reference Center for Sickle Cell Disease, AP-HP Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France;Département de génétique médicale, Aix-Marseille Université, Hôpital de la Timone, 13385 Marseille, France;Laboratoire d’Excellence GR-Ex, UMR_S1134, Inserm, Université Paris Diderot, Sorbonne Paris Cité, Institut National de la Transfusion Sanguine, 75015 Paris, France;Laboratoire—Biologie Clinique, Centre Hospitalier Régional de la Citadelle, 4000 Liège, Belgium;NBS Laboratory for Haemoglobinopathies, Hôpital Universitaire Robert-Debré, 75019 Paris, France;National Institute for Public Health and the Environment, Centre for Health Protection, 3720 Bilthoven, The Netherlands;Our Lady’s Children’s Hospital, Crumlin, D12V004 Dublin, Ireland;Pediatric Medicine Laboratory, Department of Pathology, Mater Dei Hospital, Triq Tal-Qroqq, MSD2090 Msida, Malta;Public Health England, NHS Sickle Cell and Thalassemia Screening Programme, London SE16LH, UK;;School of Population Health and Environmental Sciences, Faculty of Life Sciences &

关键词: screening;    sickle cell disease;    newborn;   

DOI  :  10.3390/ijns5010015

来源: DOAJ

【 摘 要 】

The history of newborn screening (NBS) for sickle cell disease (SCD) in Europe goes back almost 40 years. However, most European countries have not established it to date. The European screening map is surprisingly heterogenous. The first countries to introduce sickle cell screening on a national scale were France and England. The French West Indies started to screen their newborns for SCD as early as 1983/84. To this day, all countries of the United Kingdom of Great Britain and Northern Ireland have added SCD as a target disease to their NBS programs. The Netherlands, Spain and Malta also have national programs. Belgium screens regionally in the Brussels and Liège regions, Ireland has been running a pilot for many years that has become quasi-official. However, the Belgian and Irish programs are not publicly funded. Italy and Germany have completed several pilot studies but are still in the preparatory phase of national NBS programs for SCD, although both countries have well-established concepts for metabolic and endocrine disorders. This article will give a brief overview of the situation in Europe and put a focus on the programs of the two pioneers of the continent, England and France.

【 授权许可】

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