Edited by
Christine A. Lee, MA, MD, DSc, FRCP, FRCPath, FRCOG
Emeritus Professor of Haemophilia, University of London, London, UK
Erik E. Berntorp, MD, PhD
Professor of Coagulation Medicine, Lund University
Malmö Centre for Thrombosis and Haemostasis, Skåne University Hospital, Malmö, Sweden
W. Keith Hoots, MD
Director, 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 is the 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.
Table of Contents
Contributors, ix
Historical introduction, xv
Christine A. Lee
PART I: Introduction
1 Overview of hemostasis, 3
Kathleen Brummel Ziedins and Kenneth G. Mann
2 Cellular processing of factor VIII and factor IX, 9
Michael U. Callaghan and Randal J. Kaufman
PART II: Hemophilia A
3 Molecular basis of hemophilia A, 23
Geoffrey Kemball-Cook and Keith Gomez
4 Prophylaxis, 33
Kathelijn Fischer and H. Marijke van den Berg
PART III: Inhibitors to factor VIII
5 Inhibitors to factor VIII: immunology, 43
Jean-Marie R. Saint-Remy and Marc G. Jacquemin
6 Genetic and environmental risk factors for factor VIII inhibitor development, 48
Jan Astermark
7 Epidemiology of inhibitors in hemophilia, 53
Alfonso Iorio
8 Inhibitors to factor VIII: mild and moderate hemophilia, 59
Kathelijne Peerlinck and Marc Jacquemin
9 Inhibitors to factor VIII/IX: immune tolerance, 64
Donna M. DiMichele
10 Prophylaxis in inhibitor patients, 72
Alessandro Gringeri
11 Inhibitors to factor VIII: treatment of acute bleeds, 78
Claude Negrier
PART IV: Acquired hemophilia
12 Acquired inhibitors to factor VIII, 87
Craig M. Kessler
PART V: Hemophilia B
13 Hemophilia B: molecular basis, 97
Keith Gomez and Pratima Chowdary
14 Factor IX inhibitors in hemophilia B, 103
Meera B. Chitlur and Jeanne M. Lusher
15 Treatment of inhibitors in hemophilia B, 107
Anand Tandra and Amy D. Shapiro
PART VI: Pharmacokinetics of factors VIII and IX
16 Pharmacokinetics, 117
Sven Björkman
17 Individualized dosing, 123
Peter W. Collins
PART VII: Hemophilia: birth to old age
18 Neonate with hemophilia, 131
Angela E. Thomas and Elizabeth A. Chalmers
19 Work-up of a bleeding child, 138
Manuel D. Carcao and Victor S. Blanchette
20 Care of the child with hemophilia, 145
Rolf C.R. Ljung
21 Hemophilia in adolescence, 150
Pia Petrini
22 Old age medicine and hemophilia, 154
Evelien P. Mauser-Bunschoten and Roger E.G. Schutgens
PART VIII: Products used to treat hemophilia
23 Products used to treat hemophilia: recombinant products, 165
Midori Shima and Akira Yoshioka
24 Products used to treat hemophilia: plasma-derived coagulation factor concentrates, 174
Paul L.F. Giangrande
25 Products used to treat hemophilia: dosing, 180
Miguel A. Escobar
26 Products used to treat hemophilia: regulation, 185
Albert Farrugia
27 New drugs in the pipeline: from concept to clinic, 192
Leonard A. Valentino
PART IX: Surgical management
28 General surgical management of patients with hemophilia, 199
Cindy Leissinger and Rebecca Kruse-Jarres
29 Continuous infusion of coagulation products in hemophilia, 204
Angelika Batorova and Uri Martinowitz
30 Surgery in inhibitor patients, 213
Pål Andrè Holme
PART X: Musculoskeletal
31 Joint replacement in patients with hemophilia, 221
Nicholas Goddard
32 Medical synovectomy (synoviorthesis) in hemophilia: radiosynovectomy and chemical synovectomy, 228
E. Carlos Rodriguez-Merchan
33 Pseudotumors in patients with hemophilia, 233
Michael Heim and Uri Martinowitz
34 Imaging modalities for assessment of hemophilic arthropathy, 237
Andrea S. Doria and Björn Lundin
35 Physiotherapy in the management of hemophilia, 247
Sébastien Lobet and David Stephensen
36 Outcome assessment in hemophilia, 253
Pradeep M. Poonnoose and Alok Srivastava
PART XI: Transfusion-transmitted disease
37 Viral hepatitis and hemophilia, 265
Michael Makris and Geoffrey Dusheiko
38 Transfusion-transmitted disease: emerging infections, 272
Thomas R. Kreil
39 vCJD and hemophilia, 277
Carolyn M. Millar
PART XII: Gene therapy
40 Hemophilia gene therapy: an overview, 285
David Lillicrap
41 Gene therapy trials in hemophilia A and B, 291
Katherine A. High
42 Gene therapy: molecular engineering of factor VIII and factor IX, 298
Sundar R. Selvaraj and Steven W. Pipe
PART XIII: Laboratory
43 Laboratory and quality control of assays, 311
Steve Kitchen
44 Standardization of assays in hemophilia, 318
Sanj Raut and Trevor W. Barrowcliffe
45 Global laboratory assays in hemophilia, 328
Benny Sørensen and Guy Young
PART XIV: Women and bleeding disorders
46 Obstetrics and gynecology: hemophilia, 337
Rezan A. Kadir and Christine A. Lee
47 Women and von Willebrand disease, 345
Peter A. Kouides
PART XV: von Willebrand disease
48 von Willebrand disease: molecular aspects, 355
Daniel Hampshire and Anne Goodeve
49 von Willebrand disease: epidemiology, 362
Francesco Rodeghiero and Giancarlo Castaman
50 von Willebrand disease: biological diagnosis, 370
Veronica H. Flood and Robert R. Montgomery
51 Classification and clinical aspects of von Willebrand disease, 377
Augusto B. Federici
52 Treatment of von Willebrand disease: desmopressin, 386
Pier M. Mannucci
53 Treatment of von Willebrand disease: therapeutic concentrates, 390
Erik E. Berntorp
PART XVI: Rare bleeding disorders
54 Factor II, 399
Jan Astermark
55 Factor V and combined factor V and VIII deficiencies, 403
Flora Peyvandi and Marzia Menegatti
56 Congenital factor VII deficiency, 413
Angelika Batorova
57 Factor X and factor X deficiency, 421
David J. Perry
58 Factor XI deficiency, 428
Paula H.B. Bolton-Maggs and Uri Seligsohn
59 Factor XIII deficiency, 436
Diane Nugent and Loan Hsieh
60 Fibrinogen deficiency, 445
Michael Laffan
61 Miscellaneous rare bleeding disorders, 452
Frederico Xavier and Amy D. Shapiro
PART XVII: Emergency medicine
62 Emergency management of hemophilia, 463
W. Keith Hoots
PART XVIII: Evaluation of hemophilia
63 Clinical trials and other methodologies, 473
Sharyne M. Donfield and Alice E. Lail
64 Quality of life in hemophilia, 478
Sylvia von Mackensen and Alessandro Gringeri
65 The economics of hemophilia treatment, 489
Katarina Steen Carlsson and Erik E. Berntorp
PART XIX: Comprehensive care and delivery of care
66 Hemophilia databases, 497
Charles R.M. Hay
67 Comprehensive care and delivery of care: the developed world, 502
Christopher A. Ludlam and Cedric R.J.R. Hermans
68 Comprehensive care and delivery of care in hemophilia: the developing world, 508
Alok Srivastava and Auro Viswabandya
69 Comprehensive care and delivery of care: the global perspective, 515
Mark W. Skinner and Alison M. Street
Index, 523
Color plate section can be found facing page 202
