The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

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Abstract

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. This guideline group included UK-based medical experts representing the BSH and members of the EHA Red Cell and Iron Scientific Working Group (SWG).

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Roy, N. B. A., Da Costa, L., Russo, R., Bianchi, P., Del Mar Mañú-Pereira, M., Fermo, E., … Iolascon, A. (2022). The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper. HemaSphere, 6(6). https://doi.org/10.1097/HS9.0000000000000739

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