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Molecular Hematology
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Molecular
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Hematology
FIFTH EDITION
Edited by
Drew Provan Hillard M. Lazarus
This edition first published 2024
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© 2024 by John Wiley & Sons Ltd
Edition History [4th edition, 2020]
All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by law. Advice on how to obtain permission to reuse material from this title is available at http://www.wiley.com/go/permissions.
The right of Drew Provan and Hillard M. Lazarus to be identified as the author(s) of the editorial material in this work has been asserted in accordance with law.
Registered Office(s)
John Wiley & Sons, Inc., 111 River Street, Hoboken, NJ 07030, USA John Wiley & Sons Ltd, The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK
For details of our global editorial offices, customer services, and more information about Wiley products visit us at www.wiley.com.
Wiley also publishes its books in a variety of electronic formats and by print­content that appears in standard print versions of this book may not be available in other formats.
Trademarks: Wiley and the Wiley logo are trademarks or registered trademarks of John Wiley & Sons, Inc. and/or its affiliates in the United States and other countries and may not be used without written permission. All other trademarks are the property of their respective owners. John Wiley & Sons, Inc. is not associated with any product or vendor mentioned in this book.
Limit of Liability/Disclaimer of Warranty
The contents of this work are intended to further general scientific research, understanding, and discussion only and are not intended and should not be relied upon as recommending or promoting scientific method, diagnosis, or treatment by physicians for any particular patient. In view of ongoing research, equipment modifications, changes in governmental regulations, and the constant flow of information relating to the use of medicines, equipment, and devices, the reader is urged to review and evaluate the information provided in the package insert or instructions for each medicine, equipment, or device for, among other things, any changes in the instructions or indication of usage and for added warnings and precautions. While the publisher and authors have used their best efforts in preparing this work, they make no representations or warranties with respect to the accuracy or completeness of the contents of this work and specifically disclaim all warranties, including without limitation any implied warranties of merchantability or fitness for a particular purpose. No warranty may be created or extended by sales representatives, written sales materials or promotional statements for this work. This work is sold with the understanding that the publisher is not engaged in rendering professional services. The advice and strategies contained herein may not be suitable for your situation. You should consult with a specialist where appropriate. The fact that an organization, website, or product is referred to in this work as a citation and/or potential source of further information does not mean that the publisher and authors endorse the information or services the organization, website, or product may provide or recommendations it may make. Further, readers should be aware that websites listed in this work may have changed or disappeared between when this work was written and when it is read. Neither the publisher nor authors shall be liable for any loss of profit or any other commercial damages, including but not limited to special, incidental, consequential, or other damages.
on- demand. Some
Library of Congress Cataloging- in- Publication Data
Names: Provan, Drew, 1955– editor. | Lazarus, Hillard M., editor. Title: Molecular hematology / edited by Drew Provan, Hillard M. Lazarus. Description: Fifth edition. | Hoboken, NJ : Wiley-Blackwell, 2024. | Includes bibliographical references and index. Identifiers: LCCN 2023049669 (print) | LCCN 2023049670 (ebook) | ISBN 9781394180455 (cloth) | ISBN 9781394180462 (Adobe PDF) | ISBN 9781394180479 (epub) | ISBN 9781394180486 (obook) Subjects: MESH: Hematologic Diseases | Molecular Biology–methods Classification: LCC RC636 (print) | LCC RC636 (ebook) | NLM WH 120 | DDC
616.1/5–dc23/eng/20240102 LC record available at https://lccn.loc.gov/2023049669 LC ebook record available at https://lccn.loc.gov/2023049670
Cover Image: © JUAN GAERTNER/SCIENCE PHOTO LIBRARY/Getty Images Cover Design by Wiley
Set in 10/12pt MinionPro by Straive, Pondicherry, India
Dedication
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From Dr. Lazarus: To my family: Joan, the love of my life, our two sons, their wives, and our grandchildren.
From Dr. Provan: To my son, Fraser, for providing constant guitar inspiration and for bringing me joy.
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Contents
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List ofcontributors, ix
Foreword, xiii
Preface, xv
1 Beginnings: themolecular pathology ofhemoglobin, 1
Douglas Higgs and Mohsin Badat
2 Stem cells, 17
David T. Scadden
3 The genetics ofacute myeloidleukemia, 33
Amye M. Harrigan and Amy M. Trottier
4 Molecular diagnostics andrisk assessment inmyeloid
malignancies, 51
Christian Scharenberg and Torsten Haferlach
5 Molecular basis ofacute lymphoblastic leukemia, 67
Shunsuke Kimura and Charles G. Mullighan
6 Chronic myelogenous leukemia, 83
Hagop Kantarjian, Elias Jabbour and Susan O’Brien
7 Myeloproliferative neoplasms, 99
Jessica Spiers, Dina Mahdi, Christopher Saunders and Donal P. McLornan
8 Lymphoma genetics, 113
Giovanni Insuasti- Beltran, Chad M. McCall and EricD.Hsi
13 Molecular basis ofiron metabolism, 175
Jodie L. Babitt and Tomas Ganz
14 Perspectives ingenomics andsickle cell disease
therapeutics, 187
Ambroise Wonkam
15 Molecular coagulation andthrombophilia, 201
Björn Dahlbäck and Andreas Hillarp
16 The molecular basis ofhemophilia, 217
Keith Gomez
17 The molecular basis ofvon Willebrand disease, 231
Omid Seidizadeh and Luciano Baronciani
18 Platelet disorders, 251
Kenneth J. Clemetson
19 The molecular basis ofblood cell alloantigens, 267
Winnie Chong, Louise Tilley and Colin Brown
20 Functions ofblood group antigens, 285
Jonathan S. Stamler, Marilyn J. Telen and Carla Dinardo
21 Autoimmune hematological disorders, 299
Drew Provan and John W. Semple
22 Molecular therapeutics inhematology: gene
therapy, 321
William M. McKillop and Jeffrey A. Medin
23 Pharmacogenomics, 343
Leo Kager and William E. Evans
9 Molecular basis ofchronic lymphocytic leukemia, 127
Bita Fakhri and Alexey Danilov
10 The molecular biology of multiplemyeloma, 137
Udit Yadav and Wilson I. Gonsalves
11 The molecular basis ofbone marrow failure syndromes
andred cell enzymopathies, 145
Deena Iskander, Lucio Luzzatto and AnastasiosKaradimitris
12 Anemia ofchronic disease, 169
Tomas Ganz and Elizabeta Nemeth
24 Cancer stem cells, 359
Sara Ali and Dominique Bonnet
25 CAR- T cell therapy, 369
Jude Franklin, Prateek Pophali, Zachary Jackson, David Wald and David Avigan
26 Molecular basis oftransplantation, 397
Pramila Krishnamurthy, Victoria Potter and FrancescoDazzi
Index 413
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