The use of next-generation sequencing in the diagnosis of rare inherited anaemias: a joint BSH/EHA good practice paper
Autor/a
Roy, Noémi B. A.
Da Costa, Lydie
Russo, Roberta
Bianchi, Paola
Mañú-Pereira, Maria del Mar
Fermo, Elisa
Andolfo, Immacolata
Clark, Barnaby
Proven, Melanie
Sanchez-Fernandez, Mayka
Van Wijk, Richard
Van der Zwaag, Bert
Layton, Mark
Rees, David
Iolascon, Achille
British Society for Haematology/ European Hematology Association
Fecha de publicación
2022ISSN
1365-2141
Resumen
The British Society for Haematology (BSH) produces Good Practice Papers to recommend good practice in areas where there is a limited evidence base but for which a degree of consensus or uniformity is likely to be beneficial to patient care. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) nomenclature was used to evaluate levels of evidence and to assess the strength of recommendations. The GRADE criteria can be found at http://www.gradeworkinggroup.org. This Good Practice Paper was produced as a collaboration with the European Hematology Association (EHA) compiled according to the (BSH) process at http://scanmail.trustwave.com/?c=8248&d=68DV3b1jbPPsVn-8nm3kGS2D_-Hms9YWMWrrk5K8Eg&u=http%3a%2f%2fb-s-h%2eorg.uk. This guideline group included UK-based medical experts representing the BSH and members of the Red Cell and Iron Scientific Working Group (SWG) of EHA. Literature review details: MEDLINE, EMBASE and PubMED were searched systematically for publications in English from 2000 to 2019 using the following key words. ‘NGS’ and ‘next-generation sequencing’ or ‘high throughput sequencing’ AND ‘haemolytic anaemia’ or ‘DBA or ‘Diamond Blackfan anaemia’ or ‘CDA’ or ‘congenital dyserythropoietic anaemia’ or ‘sideroblastic anaemia’ or ‘HS' or ‘hereditary spherocytosis’ or ‘red cell membrane disorders’ or ‘red cell enzyme disorders’ or ‘PK deficiency’ or ‘PKD’. References from relevant publications were also searched. Conference abstracts were included if deemed to be of particular relevance. Review of the manuscript: Review of the manuscript was performed by the BSH Guidelines Committee General Haematology Task Force, the BSH Guidelines Committee and the General Haematology sounding board of the BSH. It was also on the members section of the BSH website for comment. It has also been reviewed by members of the EHA Red Cell and Iron SWG and the EHA Guidelines Executive Committee.
Tipo de documento
Artículo
Versión del documento
Versión publicada
Lengua
Inglés
Materias (CDU)
61 - Medicina
Palabras clave
Anemia
Bones pràctiques
Atenció al pacient
Anemia
Buenas prácticas
Atención al paciente
Anemia
Good practices
Patient care
Páginas
19
Publicado por
John Wiley & Sons
Colección
198;3
Publicado en
British Journal of Haematology
Citación
Roy, Noémi B. A.; Da Costa, Lydie; Russo, Roberta [et al.]. The use of next-generation sequencing in the diagnosis of rare inherited anaemias: a joint BSH/EHA good practice paper. British Journal of Haematology, 2022, 198, p. 459-477. Disponible en: <https://onlinelibrary.wiley.com/doi/10.1111/bjh.18191>. Fecha de acceso: 3 oct. 2022. DOI: 10.1111/bjh.18191.
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Derechos
© 2022 The Authors. On behalf of BSH and EHA. Published by John Wiley & Sons Limited/Wolters Kluwer (respectively).
Excepto si se señala otra cosa, la licencia del ítem se describe como http://creativecommons.org/licenses/by-nc-nd/4.0/