Textbook of Hemophilia, 3rd edition

Edited byChristine A. Lee, MA, MD, DSc, FRCP, FRCPath, FRCOGEmeritus Professor of Haemophilia, University of London, London, UK

Erik E. Berntorp, MD, PhDProfessor of Coagulation Medicine, Lund University Malmö Centre for Thrombosis and Haemostasis, Skåne University Hospital, Malmö, Sweden

W. Keith Hoots, MDDirector, Division of Blood Diseases and Resources, National Heart, Lung and Blood Institute National Institutes of Health, Bethesda, MD; Professor of Pediatrics and Internal Medicine, University of Texas Medical School at Houston, Houston, TX, USA

Without doubt,Textbook of Hemophilia, 3rd edition isthe definitive reference source on all aspects of haemophilia including diagnosis, management and treatment. Edited by three, world-renowned experts on haemophilia, this completely revised resource features chapters written by over 60 international contributors with international expertise in caring for haemophilia patients.

Textbook of Hemophilia, 3rd edition

Titles of related interest

Hemophilia and Hemostasis: A Case-Based Approach to Management, 2nd Edition

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Current and Future Issues in Hemophilia Care

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www.wiley.com/go/hematology

Christine A. Lee, MA, MD, DSc, FRCP, FRCPath, Emeritus Professor of Haemophilia, University of London; Honorary Consultant Haematologist, Oxford Haemophilia& Thrombosis Centre, Oxford, UK.

Erik E. Berntorp, MD, PhD, Professor of Hemophilia, Lund University; Director, Department of Coagulation Disorders, Malmo University Hospital, Malmo, Sweden.

W. Keith Hoots, MD, Professor of Pediatrics, University of Texas M.D. Anderson Cancer Center; Professor of Pediatrics and Internal Medicine, University of Texas Medical School at Houston; Medical Director, Gulf States Hemophilia and Thrombophilia Center, Houston, Texas, USA.

Contributors ix

Historical introduction xvChristine A. Lee

Part I: Introduction

1 Overview of hemostasis 3Kathleen Brummel Ziedins and Kenneth G. Mann

2 Cellular processing of factor VIII and factor IX 9Michael U. Callaghan and Randal J. Kaufman

Part II: Hemophilia A

3 Molecular basis of hemophilia A 23Geoffrey Kemball-Cook and Keith Gomez

4 Prophylaxis 33Kathelijn Fischer and H. Marijke van den Berg

Part III: Inhibitors to Factor VIII

5 Inhibitors to factor VIII: immunology 43Jean-Marie R. Saint-Remy and Marc G. Jacquemin

6 Genetic and Environmental Risk Factors for Factor VIII inhibitor development 48Jan Astermark

7 Epidemiology of inhibitors in hemophilia 53Alfonso Iorio

8 Inhibitors to factor VIII: mild and moderate hemophilia 59Kathelijne Peerlinck and Marc Jacquemin

9 Inhibitors to factor VIII/IX: immune tolerance 64Donna M. DiMichele

10 Prophylaxis in inhibitor patients 72Alessandro Gringeri

11 Inhibitors to factor VIII: treatment of acute bleeds 78Claude Negrier

Part IV: Acquired Hemophilia

12 Acquired inhibitors to factor VIII 87Craig M. Kessler

Part V: Hemophilia B

13 Hemophilia B: molecular basis 97Keith Gomez and Pratima Chowdary

14 Factor IX inhibitors in hemophilia B 103Meera B. Chitlur and Jeanne M. Lusher

15 Treatment of inhibitors in hemophilia B 107Anand Tandra and Amy D. Shapiro

Part VI: Pharmacokinetics of Factors VIII and IX

16 Pharmacokinetics 117Sven Björkman

17 Individualized dosing 123Peter W. Collins

Part VII: Hemophilia: Birth to Old Age

18 Neonate with hemophilia 131Angela E. Thomas and Elizabeth A. Chalmers

19 Work-up of a bleeding child 138Manuel D. Carcao and Victor S. Blanchette

20 Care of the child with hemophilia 145Rolf C.R. Ljung

21 Hemophilia in adolescence 150Pia Petrini

22 Old age medicine and hemophilia 154Evelien P. Mauser-Bunschoten and Roger E.G. Schutgens

Part VIII: Products Used to Treat Hemophilia

23 Products used to treat hemophilia: recombinant products 165Midori Shima and Akira Yoshioka

24 Products used to treat hemophilia: plasma-derived coagulation factor concentrates 174Paul L.F. Giangrande

25 Products used to treat hemophilia: dosing 180Miguel A. Escobar

26 Products used to treat hemophilia: regulation 185Albert Farrugia

27 New drugs in the pipeline: from concept to clinic 192Leonard A. Valentino

Part IX: Surgical management

28 General surgical management of patients with hemophilia 199Cindy Leissinger and Rebecca Kruse-Jarres

29 Continuous infusion of coagulation products in hemophilia 204Angelika Batorova and Uri Martinowitz

30 Surgery in inhibitor patients 213Pål Andrè Holme

Part X: Musculoskeletal

31 Joint replacement in patients with hemophilia 221Nicholas Goddard

32 Medical synovectomy (synoviorthesis) in hemophilia: radiosynovectomy and chemical synovectomy 228E. Carlos Rodriguez-Merchan

33 Pseudotumors in patients with hemophilia 233Michael Heim and Uri Martinowitz

34 Imaging modalities for assessment of hemophilic arthropathy 237Andrea S. Doria and Björn Lundin

35 Physiotherapy in the management of hemophilia 247Sébastien Lobet and David Stephensen

36 Outcome assessment in hemophilia 253Pradeep M. Poonnoose and Alok Srivastava

Part XI: Transfusion-transmitted Disease

37 Viral hepatitis and hemophilia 265Michael Makris and Geoffrey Dusheiko

38 Transfusion-transmitted disease: emerging infections 272Thomas R. Kreil

39 vCJD and hemophilia 277Carolyn M. Millar

Part XII: Gene Therapy

40 Hemophilia gene therapy: an overview 285David Lillicrap

41 Gene therapy trials in hemophilia A and B 291Katherine A. High

42 Gene therapy: molecular engineering of factor VIII and factor IX 298Sundar R. Selvaraj and Steven W. Pipe

Part XIII: Laboratory

43 Laboratory and quality control of assays 311Steve Kitchen

44 Standardization of assays in hemophilia 318Sanj Raut and Trevor W. Barrowcliffe

45 Global laboratory assays in hemophilia 328Benny Sørensen and Guy Young

Part XIV: Women and Bleeding Disorders

46 Obstetrics and gynecology: hemophilia 337Rezan A. Kadir and Christine A. Lee

47 Women and von Willebrand disease 345Peter A. Kouides

Part XV: von Willebrand Disease

48 von Willebrand disease: molecular aspects 355Daniel Hampshire and Anne Goodeve

49 von Willebrand disease: epidemiology 362Francesco Rodeghiero and Giancarlo Castaman

50 von Willebrand disease: biological diagnosis 370Veronica H. Flood and Robert R. Montgomery

51 Classification and clinical aspects of von Willebrand disease 377Augusto B. Federici

52 Treatment of von Willebrand disease: desmopressin 386Pier M. Mannucci

53 Treatment of von Willebrand disease: therapeutic concentrates 390Erik E. Berntorp

Part XVI: Rare Bleeding Disorders

54 Factor II 399Jan Astermark

55 Factor V and combined factor V and VIII deficiencies 403Flora Peyvandi and Marzia Menegatti

56 Congenital factor VII deficiency 413Angelika Batorova

57 Factor X and factor X deficiency 421David J. Perry

58 Factor XI deficiency 428Paula H.B. Bolton-Maggs and Uri Seligsohn

59 Factor XIII deficiency 436Diane Nugent and Loan Hsieh

60 Fibrinogen deficiency 445Michael Laffan

61 Miscellaneous rare bleeding disorders 452Frederico Xavier and Amy D. Shapiro

Part XVII: Emergency Medicine

62 Emergency management of hemophilia 463W. Keith Hoots

Part XVIII: Evaluation of Hemophilia

63 Clinical trials and other methodologies 473Sharyne M. Donfield and Alice E. Lail

64 Quality of life in hemophilia 478Sylvia von Mackensen and Alessandro Gringeri

65 The economics of hemophilia treatment 489Katarina Steen Carlsson and Erik E. Berntorp

Part XIX: Comprehensive Care and Delivery of Care

66 Hemophilia databases 497Charles R.M. Hay

67 Comprehensive care and delivery of care: the developed world 502Christopher A. Ludlam and Cedric R.J.R. Hermans

68 Comprehensive care and delivery of care in hemophilia: the developing world 508Alok Srivastava and Auro Viswabandya

69 Comprehensive care and delivery of care: the global perspective 515Mark W. Skinner and Alison M. Street

Index 523

Color plate section can be found facing page 202