Laboratory Hematology Practice This book is dedicated to the memory of Dr Berend Houwen and Dr Noriyuki Tatsumi Laboratory Hematology Practice EDITED BY Kandice Kottke-Marchant MD, PhD Chair, Pathology & Laboratory Medicine Institute Professor and Chair, Department of Pathology, Cleveland Clinic Lerner College of Medicine Section Head, Hemostasis and Thrombosis Department of Clinical Pathology Cleveland Clinic Cleveland, OH, USA WITH Bruce H. Davis MD Trillium Diagnostics, LLC, Bangor, ME, USA ISLH International Society for Laboratory Hematology A John Wiley & Sons, Ltd., Publication This edition fi rst published 2012 © 2012 by Blackwell Publishing Ltd. Blackwell Publishing was acquired by John Wiley & Sons in February 2007. Blackwell’s publishing program has been merged with Wiley’s global Scientifi c, Technical and Medical business to form Wiley-Blackwell. 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The fact that an organization or Website is referred to in this work as a citation and/or a potential source of further information does not mean that the author or the publisher endorses the information the organization or Website may provide or recommendations it may make. Further, readers should be aware that Internet Websites listed in this work may have changed or disappeared between when this work was written and when it is read. No warranty may be created or extended by any promotional statements for this work. Neither the publisher nor the author shall be liable for any damages arising herefrom. Library of Congress Cataloging-in-Publication Data Laboratory hematology practice / edited by Kandice Kottke-Marchant, Bruce H. Davis. p. ; cm. Includes bibliographical references and index. ISBN-13: 978-1-4051-6218-0 (hard cover : alk. paper) ISBN-10: 1-4051-6218-X (hard cover : alk. paper) 1. Hematology. 2. Blood–Analysis. I. Kottke-Marchant, Kandice. II. Davis, Bruce H., M.D. [DNLM: 1. Hematologic Tests–methods. 2. Blood Chemical Analysis–methods. 3. Cytological Techniques. 4. Hematologic Diseases–diagnosis. QY 400] RB45.L235 2012 616.07'561–dc23 2011023990 A catalogue record for this book is available from the British Library. Wiley also publishes its books in a variety of electronic formats. Some content that appears in print may not be available in electronic books. Set in 9 on 12 pt Meridien by Toppan Best-set Premedia Limited 1 2012 Contents Contributors, viii 11 Validation and Quality Control in Clinical Flow Cytometry, 115 Preface, xiii Norman B. Purvis and Teri Oldaker Abbreviations, xv 12 A New Paradigm for Cytometric Analysis, 131 C. Bruce Bagwell I Cellular Analysis 1 Historical Perspective on Cellular Analysis, 3 III Molecular Diagnostics Elkin Simson 13 Sample Collection, Processing, and Storage for 2 Cellular Morphologic Analysis of Peripheral Blood, 10 Molecular Genetic Testing, 145 Powers Peterson, Sheila McNeill, and Gene Gulati Bobby L. Boyanton Jr. and Domnita Crisan 3 Automated Cell Analysis: Principles, 26 14 Development of Amplifi cation-Based Molecular Bruce H. Davis and Patrick W. Barnes Genetic Testing in Hematology, 155 4 Differential Leukocyte Analysis, 33 Raymond R. Tubbs Marie-Christine Béné and Francis Lacombe 15 Single Nucleotide Polymorphisms in Molecular 5 Automated Platelet Analysis, 48 Diagnostics, 168 Carol Briggs and Samuel J. Machin Gurunathan Murugesan, Seongsoo Jang, and Jin-Yeong Han 6 Method Standardization in Cellular Analysis, 59 16 Molecular Cytogenetic (FISH) Analysis of Ian Giles and Richard Kendall Hematolymphoid Disorders, 181 Mark A. Micale and Anwar N. Mohamed 7 Spurious Counts and Spurious Results on Hematology Analyzers: Platelets, 66 17 Immunoglobulin and T-Cell Receptor Gene Marc Zandecki, Franck Genevieve, Jérémie Gérard, and Rearrangement Analysis for Diagnosis of Hematologic Alban Godon Malignancies, 199 Jacques J. M. van Dongen, Anton W. Langerak, and 8 Spurious Counts and Spurious Results on Hematology Tomasz Szczepański Analyzers: White Blood Cells, Red Blood Cells, Hemoglobin, Red Cell Indices, and Reticulocytes, 79 18 Minimal Residual Disease Detection in Acute Myeloid Marc Zandecki, Franck Genevieve, Jérémie Gérard, and Leukemia by RQ-PCR and Multiparameter Flow Alban Godon Cytometry, 220 Wolfgang Kern and Susanne Schnittger 9 Evaluation of Hematology Analyzers, 96 Carol Briggs 19 Engraftment Analysis Using Short Tandem Repeats Following Allogeneic Hematopoietic Cell Transplantation, 234 II Flow Cytometry in Hematologic Diagnosis Ilka Warshawsky and Hyun-Sook Chi 10 Flow Cytometric Specimen Collection, Processing, and 20 Molecular Profi ling Methods in the Diagnosis of Reporting, 105 Hematologic Disorders, 244 Maryalice Stetler-Stevenson, Bruce Greig, and Constance Yuan Annette S. Kim, Stephen R. Master, and Cherie H. Dunphy v Contents 21 The Role of Classical Cytogenetics in Hematologic 35 Diagnosis of Fibrinolytic Disorders, 460 Diagnosis, 267 Wayne Chandler Kathleen Richkind 36 Laboratory Evaluation of Acquired Coagulation Disorders, 468 IV Bone Marrow Analysis Richard A. Marlar and Katerine Seywerd 37 Platelet Assays and Platelet Dysfunction, 480 22 Bone Marrow Processing and Normal Morphology, 281 Paul Harrison and David Keeling Karl S. Theil 38 Thrombophilia: Assays and Interpretation, 492 23 Cytochemical, Immunocytochemical, Histochemical, Sophia Yohe and John Olson and Immunohistochemical Staining of Bone Marrow 39 Lupus Anticoagulants, Antiphospholipid Antibodies, and Peripheral Blood, 300 and Antiphospholipid Syndrome, 509 Alexandra Rice and Barbara J. Bain William L. Nichols, Kandice Kottke-Marchant, 24 The Myeloproliferative Neoplasms, 315 Marlies R. Ledford-Kraemer, Henry A. Homburger, Sindhu Cherian and Brent L. Wood and Layna K. Cardel 25 Myelodysplastic Disorders, 331 40 Heparin-Induced Thrombocytopenia, 526 Maryalice Stetler-Stevenson, Joseph A. DiGiuseppe, Sixten Selleng and Andreas Greinacher and Diane C. Arthur 41 Anticoagulant, Antiplatelet, and Thrombolytic 26 Acute Leukemias, 345 Drugs, 535 Joseph A. DiGiuseppe and Laila Mnayer Laura Green and Samuel J. Machin 27 Lymphoproliferative Disorders, 364 42 Guidelines for Evaluation of Coagulation Analyzers Robert W. Allan, Samer Z. Al-Quran, Ying Li, and Coagulation Testing, 543 and Raul C. Braylan Chris Gardiner 28 Plasma Cell Disorders, 381 Bill G. Richendollar and James R. Cook VI Special Hematology Techniques 29 Diagnosis of Adult Mastocytosis: Role for Bone 43 Essentials of Immunohematology, 555 Marrow Analysis, 388 A. Bradley Eisenbrey Luis Escribano, Andrés Garcia-Montero, Laura Sanchez-Muñoz, Cristina Teodosio, 44 Analysis of Hemoglobinopathies, Hemoglobin Variants Ivan Alvarez-Twose, Maria Jara-Acevedo, and Thalassemias, 562 José Mario Morgado, Julia Almeida, Alberto Orfao Monica V. E. Gallivan and Piero C. Giordano for the Spanish Network on Mastocytosis (REMA) 45 Nutritional Anemia, 586 30 Paroxysmal Nocturnal Hemoglobinuria (PNH) Ralph Green Analysis, 399 46 Hemolytic Anemias Associated with Disorders of Stephen J. Richards Erythrocyte Membrane and Cytoskeleton Proteins, 602 May-Jean King, Lesley J. Bruce, and Didier Dhermy V Hemostasis and Thrombosis 47 Body Fluid Analysis, 615 David J. Blomberg, Katherine Galagan, and Eric F. Glassy 31 Sample Collection and Processing in Hemostasis, 409 48 Malaria Analysis, 626 Dorothy M. Adcock Qigui Li, Peter J. Weina, and R. Scott Miller 32 Performance and Interpretation of Routine Coagulation 49 Erythrocyte Sedimentation Rate (ESR), 638 Assays, 420 Josep M. Jou Kandice Kottke-Marchant 33 Clotting Factors and Inhibitors: Assays and VII Point-of-Care Testing Interpretation, 435 Piet Meijer, H. W. Verbruggen, and Michael Spannagl 50 Needs Analysis and Selection of Point-of-Care Testing 34 Diagnosis of von Willebrand Disease, 447 Analyzers, 649 Emmanuel J. Favaloro and Jerry Koutts Albert Huisman vi Contents 51 Point-of-Care Testing in Hemostasis, 655 54 Hematology Quality Practices, 686 Steve Kitchen and Dianne Kitchen George S. Cembrowski 52 Point-of-Care Hematology Assays, 668 55 Digital Imaging in Hematology, 707 Albert Huisman Danny Hsu and Szu-Hee Lee Index, 719 VIII Management of Information 53 Laboratory Management, 675 Stefanie L. McFadden and Linda M. Sandhaus vii Contributors Dorothy M. Adcock MD Barbara J. Bain MBBS, FRACP, Carol Briggs BSc, FIBMS Medical Director FRCPath Chief Biomedical Scientist and Researcher Esoterix Inc. Professor of Diagnostic Haematology Department of Haematology Englewood, CO, USA Imperial College Faculty of Medicine University College London Hospitals St Mary ’s Hospital London, UK Robert W. Allan MD London, UK Clinical Associate Professor Lesley J. Bruce PhD Department of Pathology and Laboratory Patrick W. Barnes MA MT(ASCP) Senior Research Scientist Medicine Laboratory Manager— Hematology Bristol Institute for Transfusion Sciences University of Florida College of Medicine Barnes-Jewish Hospital NHS Blood& Transplant Gainesville, FL, USA St. Louis, MO, USA Bristol, UK Julia Almeida MD, PhD Marie-Christine Bé né PharmSciD, Layna K. Cardel BS, MT(ASCP) Associate Professor PhD Education Specialist Servicio General de Citometrí a and Immunology Professor and Biologist Mayo Special Coagulation Laboratory Departamento de Medicina Centre Hospitalier Universitaire et Faculté de Department of Laboratory Medicine and Instituto de Biologí a Celular y Molecular del Médecine de Nancy Pathology Cáncer Nancy Université Mayo Clinic Rochester; Centro de Investigació n del Cá ncer/IBMCC Nancy, France Instructor, Laboratory Medicine (CSIC-USAL) Mayo Clinic College of Medicine Universidad de Salamanca David J. Blomberg MD Rochester, MN, USA Salamanca, Spain Formerly Associate Professor, Pathology and Laboratory Medicine, Univ. of MN, Duluth, George S. Cembrowski MD, PhD Samer Z. Al -Quran MD School of Medicine. Director, Medical Biochemistry, Associate Professor Formerly of Arrowhead Pathologists, P.A. University Hospital Department of Pathology, Immunology and Duluth, MN, USA Associate Professor, Laboratory Medicine Department of Laboratory Medicine and University of Florida College of Medicine Bobby L. Boyanton Jr. MD Pathology Gainesville, FL, USA University of Alberta Associate Professor of Pathology Edmonton, Alberta, Canada Oakland University William Beaumont School Ivan Alvarez- Twose MD of Medicine Clinical Associate Professor Medical Director, Clinical Microbiology Wayne Chandler MD Instituto de Estudios de Mastocitosis de Associate Medical Director, Molecular Vice Chair Castilla La Mancha Pathology Clinical Coagulation and Chemistry Hospital Virgen del Valle Beaumont Hospital Department of Pathology and Laboratory Toledo, Spain Department of Clinical Pathology Medicine Royal Oak, MI, USA The Methodist Hospital Diane C. Arthur MD Houston, TX, USA Staff Clinician Raul C. Braylan MD Head, Clinical Cytogenetics Section Professor Emeritus Sindhu Cherian MD Laboratory of Pathology, CCR, NCI, NIH Department of Pathology and Laboratory Assistant Professor Bethesda, MD, USA Medicine Department of Laboratory Medicine University of Florida College of Medicine University of Washington C. Bruce Bagwell MD, PhD Gainesville, FL, USA Seattle, WA, USA President Verity Software House Topsham, ME, USA viii Contributors Hyun-Sook Chi MD, PhD Emmanuel J. Favaloro PhD FFSc Eric F. Glassy MD Emeritus Professor (RCPA) Affi liated Pathologists Medical Group University of Ulsan Principle Hospital Scientist Torrance, CA, USA College of Medicine and Asan Medical Department of Haematology Center Institute of Clinical Pathology and Medical Alban Godon MD Seoul, Korea Research (ICPMR) Laboratoire d’ Hématologie Westmead Hospital Centre Hospitalier Universitaire James R. Cook MD, PhD Westmead, NSW, Australia Angers, France Associate Professor of Pathology Cleveland Clinic Lerner College of Medicine Katherine Galagan MD Ralph Green MD, PhD, FRCPath, Molecular Hematopathology Section Head Director of Clinical Laboratories and Section FCAP, FASCP Pathology and Laboratory Medicine Institute Head Professor and Chair Cleveland Clinic Virginia Mason Medical Center Department of Medical Pathology and Cleveland, OH, USA Seattle, WA, USA Laboratory Medicine University of California, Davis Domnita Crisan MD, PhD Monica V. E. Gallivan MD School of Medicine Professor of Pathology Medical Director, Hematology Sacramento, CA, USA Oakland University William Beaumont School Quest Diagnostics Nichols Institute of Medicine Chantilly, VA, USA Laura Green MBBS, MRCP, FRCPath Medical Director, Molecular Pathology Consultant in Haemostasis and Transfusion William Beaumont Hospital Andrés Garcia- Montero PhD Medicine Department of Clinical Pathology Researcher Department of Haematology Royal Oak, MI, USA Servicio General de Citometria and Barts and The London NHS Trust Departamento de Medicina London, UK Bruce H. Davis MD Instituto de Biologí a Celular y Molecular del Trillium Diagnostics, LLC, Cáncer Bruce Greig MT(ASCP)QCYM Bangor, ME, USA Centro de Investigació n del Cá ncer/IBMCC Associate (CSIC-USAL) Department of Pathology, Microbiology, and Didier Dhermy MD, PhD Universidad de Salamanca Immunology Salamanca, Spain Directeur de Recherche au CNRS Vanderbilt University Institut National Transfusion Sanguine Vanderbilt University Medical Center Paris, France Chris Gardiner PhD, MSc, FIBMS Nashville, TN, USA Postdoctoral Scientist Joseph A. DiGiuseppe MD, PhD Nuffi eld Department of Obstetrics and Andreas Greinacher MD Gynaecology Director, Special Hematology Laboratory Full Professor, Department Chair University of Oxford Department of Pathology& Laboratory Institut fü r Immunologie und Oxford, UK Medicine Transfusionsmedizin Hartford Hospital Ernst-Moritz-Arndt Universitä t Hartford, CT, USA Franck Geneviè ve MD Greifswald, Germany Laboratoire d’ Hématologie Cherie H. Dunphy MD, FCAP, Centre Hospitalier Universitaire Gene Gulati PhD Angers, France FASCP Professor of Hematology and Associate Professor of Pathology and Laboratory Director of Hematology Laboratory Medicine Jérémie G érard PhD Department of Pathology, Anatomy and Cell Department of Pathology and Laboratory Doctor of Pharmacy Biology Medicine Laboratoire d’ Hématologie Jefferson Medical College of Thomas Jefferson University of North Carolina Centre Hospitalier Universitaire University Chapel Hill, NC, USA Angers, France Philadelphia, PA, USA A. Bradley Eisenbrey MD, PhD Ian Giles MD Jin-Yeong Han MD, PhD, FASCP Laboratory Director Director of Scientifi c Affairs Professor and Chair Gift of Life Michigan Sysmex America Inc Department of Laboratory Medicine Ann Arbor, MI, USA Mundelein, IL, USA Dong-A University College of Medicine Busan, Korea Luis Escribano MD, PhD Piero C. Giordano PhD Director Associated Professor Paul Harrison BSc, PhD, FRCPath Instituto de Estudios de Mastocitosis de Clinical biochemical molecular geneticist Clinical Scientist& Honorary Lecturer Castilla La Mancha Center for Human and Clinical Genetics Oxford Haemophilia& Thrombosis Centre Hospital Virgen del Valle Leiden Academic Hospital (LUMC) Churchill Hospital Toledo, Spain Leiden, The Netherlands Oxford, UK ix Contributors Henry A. Homburger MD Wolfgang Kern MD Anton W. Langerak PhD Consultant (Emeritus), Laboratory Medicine& Head Immunophenotyping Associate Professor Pathology MLL Munich Leukemia Laboratory Medical Immunologist Former Director, Mayo Antibody Immunology Munich, Germany Department of Immunology Laboratory Erasmus MC Division of Clinical Biochemistry and Annette S. Kim MD, PhD University Medical Center Rotterdam Immunology Rotterdam, The Netherlands Assistant Professor of Pathology, Microbiology Department of Laboratory Medicine and and Immunology Pathology Department of Pathology, Microbiology and Marlies R. Ledford- Kraemer Mayo Clinic Rochester; Immunology MBA, BS, MT(ASCP)SH Professor (Emeritus), Laboratory Medicine and Vanderbilt University Medical Center President, CLOT- ED, Inc. Pathology Nashville, TN, USA Emeritus Executive Secretary, NASCOLA Mayo Clinic College of Medicine Islamorada, FL, USA Rochester, MN, USA May-Jean King PhD Senior Research Biochemist/ Szu-Hee Lee MBBChir, PhD, FRACP, Danny Hsu MBBS, FRACP, FRCPA Clinical Scientist FRCPA Senior Registrar in Haematology Membrane Biochemistry Professor (Conjoint) and Senior Staff Department of Haematology International Blood Group Reference Haematologist St George Hospital Laboratory Department of Haematology Sydney, NSW, Australia NHS Blood& Transplant St George Hospital Bristol, UK Sydney, NSW, Australia Albert Huisman PhD Clinical Chemist Steve Kitchen PhD Qigui Li MD, PhD University Medical Center Utrecht Clinical Scientist Chief of Pharmacokinetics/Pharmacodynamics Department of Clinical Chemistry and Sheffi eld Haemostasis and Department of Pharmacology Haematology Thrombosis Centre Division of Experimental Therapeutics Utrecht, The Netherlands Royal Hallamshire Hospital Walter Reed Army Institute of Research Sheffi eld, UK Silver Spring, MD, USA Seongsoo Jang MD, PhD Assistant Professor Dianne Kitchen PhD Ying Li MD, PhD Asan Medical Center Senior BMS Clinical Associate Professor University of Ulsan College of Medicine UK NEQAS for Blood Coagulation Department of Pathology and Laboratory Seoul, Korea Sheffi eld, UK Medicine University of Florida College of Medicine Maria Jara- Acevedo MSc Kandice Kottke- Marchant MD, Gainesville, FL, USA PhD student, Servicio General de Citometrí a PhD and Departamento de Medicina, Chair, Pathology & Laboratory Medicine Samuel J. Machin MD, FRCP, FRCPath Instituto de Biolog ía Celular y Molecular del Institute Professor of Haematology, University College Cáncer Professor and Chair, Department London Centro de Investigació n del Cá ncer/IBMCC of Pathology, Cleveland Clinic Lerner Consultant Haematologist and Clinical Lead (CSIC-USAL) College of Medicine for Laboratory Services Universidad de Salamanca Section Head, Hemostasis and University College London Hospitals Salamanca, Spain Thrombosis London, UK Dept. of Clinical Pathology Josep M. Jou MD, PhD Cleveland Clinic, Richard A. Marlar PhD Senior Consultant Cleveland, OH, USA Professor of Pathology Servei Hemoterà pia i Hemostà sia Laboratory Services Hospital Clinic, University of Barcelona Jerry Koutts MD (Syd) BS FRACP Oklahoma City Veterans Administration Barcelona, Spain FRCPA Medical Center Department of Haematology University of Oklahoma Health Sciences David Keeling BSc MD FRCP FRCPath Institute of Clinical Pathology and Medical Center Oxford Haemophilia and Thrombosis Centre Research (ICPMR) Oklahoma City, OK, USA Churchill Hospital Westmead Hospital Oxford, UK Westmead, NSW, Australia Stephen R. Master MD, PhD Assistant Professor of Pathology and Richard Kendall PhD Francis Lacombe MD, PhD Laboratory Medicine Director of Global Scientifi c Affairs Hematology Laboratory Department of Pathology and Laboratory Commercial Director Future Solutions Hôpital Haut -Lévêque Medicine Abbott Hematology Pessac, France University of Pennsylvania School of Medicine Santa Clara, CA, USA Philadelphia, PA, USA x
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