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

Hemasphere. 2022 Jun 6;6(6):e739. doi: 10.1097/HS9.0000000000000739. eCollection 2022 Jun.

Noémi B A Roy^{1

2}, Lydie Da Costa³, Roberta Russo^{4

5}, Paola Bianchi⁶, Maria Del Mar Mañú-Pereira⁷, Elisa Fermo⁶, Immacolata Andolfo^{4

5}, Barnaby Clark⁸, Melanie Proven⁹, Mayka Sanchez^{10

11}, Richard van Wijk¹², Bert van der Zwaag¹², Mark Layton¹³, David Rees⁸, Achille Iolascon^{4

5}

¹ Department of Haematology, Oxford University Hospitals, NHS Foundation Trust, Oxford, United Kingdom.
² NIHR BRC Blood Theme, Oxford, United Kingdom.
³ Hôpital Universitaire Robert Debré, Paris, France.
⁴ Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.
⁵ CEINGE Biotecnologie Avanzate, Naples, Italy.
⁶ UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, Milano, Italy.
⁷ Translational research in Rare Anaemia Disorders, Vall d'Hebron Research Institute, Barcelona, Spain.
⁸ King's College Hospital, King's College, London, United Kingdom.
⁹ Genetics Laboratories, Oxford University Hospitals, NHS Foundation Trust, Oxford, United Kingdom.
¹⁰ Department of Basic Sciences, Iron metabolism: Regulation and Diseases, Universitat Internacional de Catalunya (UIC), Barcelona, Spain.
¹¹ BloodGenetics S. L. Diagnostics in Inherited Blood Diseases, Barcelona, Spain.
¹² Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
¹³ Imperial College London, Hammersmith Hospital, London, United Kingdom.

No abstract available