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Improving Screening Programmes for Sickle Cell Disorders and Other Haemoglobinopathies in Europe: The Role of Patient Organisations
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Int. J. Neonatal Screen. 2019, 5(1), 15; https://doi.org/10.3390/ijns5010015

Newborn Screening for Sickle Cell Disease in Europe

1
Public Health England, NHS Sickle Cell and Thalassemia Screening Programme, London SE16LH, UK
2
Laboratoire d’Excellence GR-Ex, UMR_S1134, Inserm, Université Paris Diderot, Sorbonne Paris Cité, Institut National de la Transfusion Sanguine, 75015 Paris, France
3
NBS Laboratory for Haemoglobinopathies, Hôpital Universitaire Robert-Debré, 75019 Paris, France
4
Département de génétique médicale, Aix-Marseille Université, Hôpital de la Timone, 13385 Marseille, France
5
National Institute for Public Health and the Environment, Centre for Health Protection, 3720 Bilthoven, The Netherlands
6
Pediatric Medicine Laboratory, Department of Pathology, Mater Dei Hospital, Triq Tal-Qroqq, MSD2090 Msida, Malta
7
Department of Pediatric Oncology/Hematology, Hospital Universitario General Gregorio Marañón, Facultad de Medicina, Universidad Complutense Madrid, 28007 Madrid, Spain
8
Department of Pediatrics, Reference Center for Sickle Cell Disease, AP-HP Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France
9
Department of Clinical Chemistry, Cliniques Universitaires de Bruxelles, Hôpital Erasme—ULB, 1070 Bruxelles, Belgium
10
Laboratoire—Biologie Clinique, Centre Hospitalier Régional de la Citadelle, 4000 Liège, Belgium
11
Our Lady’s Children’s Hospital, Crumlin, D12V004 Dublin, Ireland
12
School of Population Health and Environmental Sciences, Faculty of Life Sciences & Medicine, King’s College London, London WC2R2LS, UK
13
Division of Healthcare Public Health, Health Protection and Medical Directorate, Public Health England, London SE18UG, UK
14
Department of Child and Maternal Health, Clinic of Pediatric Hematology/Oncology, Azienda Ospedaliera-Università di Padova, 35129 Padova, Italy
15
Department of Pediatric Oncology/Hematology, Kinderkrankenhaus Amsterdamer Straße, 50735 Cologne, Germany
*
Author to whom correspondence should be addressed.
These authors contributed equally to the manuscript.
Received: 30 December 2018 / Revised: 3 February 2019 / Accepted: 6 February 2019 / Published: 12 February 2019
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PDF [291 KB, uploaded 28 February 2019]

Abstract

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. View Full-Text
Keywords: screening; sickle cell disease; newborn screening; sickle cell disease; newborn
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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Daniel, Y.; Elion, J.; Allaf, B.; Badens, C.; Bouva, M.J.; Brincat, I.; Cela, E.; Coppinger, C.; de Montalembert, M.; Gulbis, B.; Henthorn, J.; Ketelslegers, O.; McMahon, C.; Streetly, A.; Colombatti, R.; Lobitz, S. Newborn Screening for Sickle Cell Disease in Europe. Int. J. Neonatal Screen. 2019, 5, 15.

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