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

• Noémi B. A. Roy,
• Lydie Da Costa,
• Roberta Russo,
• Paola Bianchi,
• Maria del Mar Mañú-Pereira,
• Elisa Fermo,
• Immacolata Andolfo,
• Barnaby Clark,
• Melanie Proven,
• Mayka Sanchez,
• Richard van Wijk,
• Bert van der Zwaag,
• Mark Layton,
• David Rees,
• Achille Iolascon,
• on behalf of the British Society for Haematology and the European Hematology Association

Affiliations

Noémi B. A. Roy

1 Department of Haematology, Oxford University Hospitals, NHS Foundation Trust, Oxford, United Kingdom

Lydie Da Costa

3 Hôpital Universitaire Robert Debré, Paris, France

Roberta Russo

4 Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy

Paola Bianchi

6 UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano, Milano, Italy

Maria del Mar Mañú-Pereira

7 Translational research in Rare Anaemia Disorders, Vall d’Hebron Research Institute, Barcelona, Spain

Elisa Fermo

6 UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano, Milano, Italy

Immacolata Andolfo

4 Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy

Barnaby Clark

8 King’s College Hospital, King’s College, London, United Kingdom

Melanie Proven

9 Genetics Laboratories, Oxford University Hospitals, NHS Foundation Trust, Oxford, United Kingdom

Mayka Sanchez

10 Department of Basic Sciences, Iron metabolism: Regulation and Diseases, Universitat Internacional de Catalunya (UIC), Barcelona, Spain

Richard van Wijk

12 Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands

Bert van der Zwaag

12 Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands

Mark Layton

13 Imperial College London, Hammersmith Hospital, London, United Kingdom

David Rees

8 King’s College Hospital, King’s College, London, United Kingdom

Achille Iolascon

4 Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy

on behalf of the British Society for Haematology and the European Hematology Association