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Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Lobitz, Stephan; Telfer, Paul; Cela, Elena; Allaf, Bichr; Angastiniotis, Michael; Backman Johansson, Carolina; Badens, Catherine; Bento, Celeste; Bouva, Marelle J; Canatan, Duran; Charlton, Matthew; Coppinger, Cathy; Daniel, Yvonne; de Montalembert, Marianne; Ducoroy, Patrick; Dulin, Elena; Fingerhut, Ralph; Frömmel, Claudia; García-Morin, Marina; Gulbis, Béatrice; Holtkamp, Ute; Inusa, Baba; James, John; Kleanthous, Marina; Klein, Jeannette; Kunz, Joachim B; Langabeer, Lisa; Lapouméroulie, Claudine; Marcao, Ana; Marín Soria, José L; McMahon, Corrina; Ohene-Frempong, Kwaku; Périni, Jean-Marc; Piel, Frédéric B; Russo, Giovanna; Sainati, Laura; Schmugge, Markus; Streetly, Allison; Tshilolo, Leon; Turner, Charles; Venturelli, Donatella; Vilarinho, Laura; Yahyaoui, Rachel; Elion, Jacques; Colombatti, Raffaella.
  • Lobitz S; Department of Paediatric Oncology/Haematology, Kinderkrankenhaus Amsterdamer Straße, Cologne, Germany.
  • Telfer P; Department of Paediatric Oncology/Haematology/BMT, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Cela E; Department of Haematology, Bart's Health National Health Service Trust, Royal London Hospital, London, United Kingdom.
  • Allaf B; Department of Paediatric Oncology/Haematology, Hospital Universitario General Gregorio Marañón, Facultad de Medicina, Universidad Complutense Madrid, Madrid, Spain.
  • Angastiniotis M; NBS Laboratory for haemoglobinopathies, Hôpital universitaire Robert-Debré, Paris, France.
  • Backman Johansson C; Thalassaemia International Federation, Nicosia, Cyprus.
  • Badens C; Centre for Inherited Metabolic Diseases - PKU Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Bento C; Département de génétique médicale, Aix-Marseille Université, Hôpital de la Timone, Marseille, France.
  • Bouva MJ; Department of Haematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Canatan D; Centre for Infectious Disease Research, Diagnostics and Screening, National Institute for Public Health and the Environment, Bilthoven, The Netherlands.
  • Charlton M; Haemoglobinopathy Diagnosis Centre, Mediterranean Blood Diseases Foundation, Antalya, Turkey.
  • Coppinger C; Public Health England, NHS Sickle Cell and Thalassaemia Screening Programme, London, United Kingdom.
  • Daniel Y; Public Health England, NHS Sickle Cell and Thalassaemia Screening Programme, London, United Kingdom.
  • de Montalembert M; Public Health England, NHS Sickle Cell and Thalassaemia Screening Programme, London, United Kingdom.
  • Ducoroy P; Department of Paediatrics, Reference Centre for Sickle Cell Disease, AP-HP Hôpital Universitaire Necker-Enfants Malades, Paris, France.
  • Dulin E; BIOMANEO, Dijon, France.
  • Fingerhut R; Department of Paediatric Oncology/Haematology, Hospital Universitario General Gregorio Marañón, Facultad de Medicina, Universidad Complutense Madrid, Madrid, Spain.
  • Frömmel C; NBS Laboratory, Universitätskinderspital Zürich- Eleonorenstiftung, Zurich, Switzerland.
  • García-Morin M; Labor Berlin - Charité Vivantes GmbH, Berlin, Germany.
  • Gulbis B; Department of Paediatric Oncology/Haematology, Hospital Universitario General Gregorio Marañón, Facultad de Medicina, Universidad Complutense Madrid, Madrid, Spain.
  • Holtkamp U; Department of Clinical Chemistry, Cliniques universitaires de Bruxelles, Hôpital Erasme - ULB, Bruxelles, Belgium.
  • Inusa B; Screening-Labor Hannover, Ronnenberg, Germany.
  • James J; Evelina London Children's Hospital, Guy's and St Thomas' NHS Trust, London, United Kingdom.
  • Kleanthous M; Sickle Cell Society UK, London, United Kingdom.
  • Klein J; Molecular Genetics Thalassaemia Department, The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Kunz JB; NBS Laboratory, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Langabeer L; Department of Paediatric Oncology, Haematology and Immunology, University of Heidelberg, Heidelberg, Germany.
  • Lapouméroulie C; Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
  • Marcao A; Laboratoire d'Excellence GR-Ex, UMR_S1134, Inserm, Université Paris Diderot, Sorbonne Paris Cité, Institut National de la Transfusion Sanguine, Paris, France.
  • Marín Soria JL; Department of Human Genetics - Newborn Screening, Metabolism and Genetics Unit, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, Portugal.
  • McMahon C; Programa de Cribado Neonatal, Sección Errores Congénitos del Metabolismo, Servicio de Bioquímica y Genética Molecular, Hospital Clínic, Barcelona, Spain.
  • Ohene-Frempong K; Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
  • Périni JM; Sickle Cell Foundation of Ghana, Kumasi, Ghana.
  • Piel FB; NBS Laboratory, University Hospital of Lille, Lille, France.
  • Russo G; Department of Epidemiology & Biostatistics, School of Public Health, Imperial College London, London, United Kingdom.
  • Sainati L; Department of Clinical and Experimental Medicine, Paediatric Haemato-Oncology Unit, University of Catania, Catania, Italy.
  • Schmugge M; Department of Child and Maternal Health, Clinic of Paediatric Haematology/Oncology, Azienda Ospedaliera-Università di Padova, Padova, Italy.
  • Streetly A; Department of Paediatric Haematology, Universitätskinderspital Zürich - Eleonorenstiftung, Zurich, Switzerland.
  • Tshilolo L; School of Population Health and Environmental Sciences, Faculty of Life Sciences & Medicine, King's College London, London, United Kingdom.
  • Turner C; Division of Healthcare Public Health, Health Protection and Medical Directorate, Public Health England, London, United Kingdom.
  • Venturelli D; Centre Hospitalier Monkole, Kinshasa, Democratic Republic of Congo.
  • Vilarinho L; WellChild Laboratory, Evelina London Children's Hospital, London, United Kingdom.
  • Yahyaoui R; Department of Transfusion Medicine, University Hospital of Modena, Modena, Italy.
  • Elion J; Department of Human Genetics - Newborn Screening, Metabolism and Genetics Unit, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, Portugal.
  • Colombatti R; Instituto de Investigación Biomédica de Málaga, Málaga Regional University Hospital, Málaga, Spain.
Br J Haematol ; 183(4): 648-660, 2018 11.
Article en En | MEDLINE | ID: mdl-30334577
ABSTRACT
Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European health care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures and has contributed to a reduction in childhood mortality from SCD. Policies and methodologies for NBS vary in different countries, and this might have consequences for the quality of care and clinical outcomes for SCD across Europe. A two-day Pan-European consensus conference was held in Berlin in April 2017 in order to appraise the current status of NBS for SCD and to develop consensus-based statements on indications and methodology for NBS for SCD in Europe. More than 50 SCD experts from 13 European countries participated in the conference. This paper aims to summarise the discussions and present consensus recommendations which can be used to support the development of NBS programmes in European countries where they do not yet exist, and to review existing programmes.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anemia de Células Falciformes Tipo de estudio: Clinical_trials / Diagnostic_studies / Guideline / Screening_studies Límite: Female / Humans / Male / Newborn País como asunto: Europa Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anemia de Células Falciformes Tipo de estudio: Clinical_trials / Diagnostic_studies / Guideline / Screening_studies Límite: Female / Humans / Male / Newborn País como asunto: Europa Idioma: En Año: 2018 Tipo del documento: Article