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2130 Part XII: Hemostasis and Thrombosis Chapter 123: Hemophilia A and Hemophilia B 2131

34. Rodriguez Merchan EC: The hemophilic pseudotumour. Int Orthop 19:255, 1995. 70. Gouw SC, van den Berg HM, le Cessie S, van der Bom JG: Treatment characteristics
35. Caviglia H, Candela M, Landro ME, et al: Haemophilia pseudotumours in patients with and the risk of inhibitor development: A multicenter cohort study among previously
inhibitors. Haemophilia 2015. [Epub ahead of print] untreated patients with severe hemophilia A. Blood 109:4648, 2007.
36. Hein M, Martinowitz U: Pseudotumors in patients with hemophilia, in Textbook of 71. Gouw SC, van der Bom JG, Auerswald G, et al: Recombinant versus plasma-derived
Hemophilia, 3rd ed, edited by CA Lee, EE Berntorp, WK Hoots, p 233. Wiley Blackwell, factor VIII products and the development of inhibitors in previously untreated patients
Hoboken, NJ, 2014. with severe hemophilia A: The CANAL cohort study. Blood 109:4693, 2007.
37. Zanon E, Iorio A, Rocino A, et al: Intracraneal haemorrhage in the Italian population 72. Gouw SC, van der Bom JG, Ljung R et al: Factor VIII products and inhibitor develop-
of haemophilia patients with and without inhibitors. Heamophilia 18:39, 2012. ment in severe hemophilia A. N Engl J Med 17:231, 2013.
38. Eyster ME, Asaad SM, Gold BD, et al: Upper gastrointestinal bleeding in haemophiliacs: 73. Iorio A, Halimeh S Holzhauer S, et al: Rate of inhibitor development in previously
Incidence and relation to use of non-steroidal anti-inflammatory drugs. Haemophilia untreated hemophilia A patients treated with plasma-derived or recombinant VIII con-
13:279, 2007. centrates: A systematic review. J Thromb Haemost 8:1256, 2010.
39. Moser KA, Funk DM: Chromogenic factor VIII activity assay. Am J Hematol 89:781, 74. Gouw SC, van der Berg HM, Oldenberg et al: F8 gene mutation type and inhibitor
2014. development in patients with severe hemophilia A: Systematic review and meta-analysis.
40. McGinniss MJ, Kazazian HH Jr, Hoyer LW, et al: Spectrum of mutations in CRM-positive Blood 119:2922, 2012.
and CRM-reduced hemophilia A. Genomics 15:392, 1993. 75. Peerlinck K, Arnout J, Gilles JH, et al: A higher than expected incidence of factor VIII
41. Tully EA, Gaucher C, Jorieux S, et al: Expression of von Willebrand factor “Normandy.” inhibitors in multitransfused haemophilia A patients treated with an intermittent
An autosomal mutation that mimics hemophilia A. Proc Natl Acad Sci U S A 88:6377, purity pasteurized factor VIII concentrate. Thromb Haemost 69:115, 1993.
1991. 76. Parker ET, Healey JF, Barrow RT, et al: Reduction of the inhibitory antibody response
42. Michiels JJ, Gadisseur A, Vangenegten I, et al: Recessive von Willebrand disease type 2 to human factor VIII in hemophilia A mice by mutagenesis of the A2 domain B cell
Normandy: Variable expression of mild hemophilia and VWD type 1. Acta Haematol epitope. Blood 104:704, 2004.
121:119, 2009. 77. Kasper CK: Laboratory tests for factor VIII inhibitors, their variation, significance and
43. Seligsohn U, Zwang E, Zivelin A: Combined factor V and factor VIII deficiency among interpretation. Blood Coagul Fibrinolysis 2:S7, 1991.
non-Ashkenazi Jews. N Engl J Med 307:1191, 1982. 78. Verbruggen B, Novakova I, Wessels H, et al: The Nijmegen modification of the Bethesda
44. Ginsberg D: Identifying novel genetic determinants of hemostatic balance. J Thromb assay for factor VIII:C inhibitors: Improved specificity and reliability and specificity.
Haemost 8:1561, 2005. Thromb Haemost 73:247, 1995.
45. Srivastava A, Brewer AK, Mauser-Bunschoten EP, et al: Guidelines for the management 79. Ananyeva NM, Lee TK, Jain N, et al: Inhibitors in hemophilia A: Advances in eluci-
of hemophilia. Haemophilia 19:e1, 2013. dation of inhibitory mechanisms and in inhibitor management with bypassing agents.
46. Santagostino E, Mannucci PM, Gringeri A, et al: Transmission of parvovirus B19 by Semin Thromb Hemost 35:735, 2009.
coagulation factor concentrates exposed to 100 degrees C of heat after lyophilization. 80. Monroe DM, Roberts HR: Mechanism of action of high-dose factor VIIa: Points of
Transfusion 37:517, 1997. agreement and disagreement. Arterioscler Thromb Vasc Biol 23:8, 2003.
47. Robertson BH, Alter MJ, Bell BP, et al: Hepatitis A virus sequence detected in clotting 81. Hoffman M, Dargaud Y: Mechanisms and monitoring of bypassing agent therapy.
factor concentrates associated with disease transmission. Biologicals 26:95, 1998. J Thromb Haemost 10:1478, 2012.
48. Escobar MA: Treatment on demand—In vivo dose finding studies. Haemophilia 9:360, 82. Escobar M, Maahs J, Hellman E, et al: Multidisciplinary management of patients with
2003. haemophilia with inhibitors undergoing surgery in the United States: Perspectives and
49. McMillan CW, Webster WP, Roberts HR, Blythe WB: Continuous intravenous infusion best practices derived from experienced treatment centers. Haemophilia 18:971, 2012.
of factor VIII in classic hemophilia. Br J Haematol 18:659, 1972. 83. Rangarajan S, Austin S, Goddard NJ, et al: Consensus recommendations for the use of
50. Schulman S: Continuous infusion. Haemophilia 9:368, 2003. FEIBA in hemophilia A patients with inhibitors undergoing elective orthopedic and
51. Rodeghiero F, Castaman G, Di Bona E, Ruggeri M: Consistency of responses to non-orthopedic surgery. Haemophilia 19:294, 2013.
repeated DDAVP infusions in patients with von Willebrand’s disease and hemophilia 84. DiMichele DM: Immune tolerance in haemophilia: The long journey to the fork in the
A. Blood 74:1997, 1989. road. Haemophilia 159:123, 2012.
52. Mannucci PM, Bettega D, Cattaneo M: Patterns of development of tachyphylaxis in 85. DiMichele DM, Hoots WK, Pipe SW, et al: International workshop on immune toler-
patients with haemophilia and von Willebrand disease after repeated doses of desmo- ance induction: Consensus recommendations. Haemophilia 13:1, 2007.
pressin (DDAVP). Br J Haematol 82:87, 1992. 86. Kempton CL, Meeks SL. Toward optimal therapy for inhibitors in hemophilia. Blood
53. Coppola A, Windyga J, Tufano A, et al: Treatment for preventing bleeding in people 124:3365, 2014.
with haemophilia or other congenital bleeding disorders undergoing surgery. Cochrane 87. Collins PN, Mathias M, Hanley J, et al: Rituximab and immune tolerance in severe
Database Syst Rev 2:CD009961, 2015. hemophilia A: A consecutive national cohort. J Thromb Haemost 7:787, 2009.
54. Ghosh K, Shetty S, Jijina F, Mohanty D: Role of epsilon amino caproic acid in the man- 88. Kohli A, Shaffer A, Sherman A, et al: Treatment of hepatitis C: A systematic review.
agement of haemophilic patients with inhibitors. Haemophilia 10:58, 2004. JAMA 312:631, 2014.
55. Martinowitz U, Saltz R: Fibrin sealant. Curr Opin Hematol 3:395, 1996. 89. Gjerset GF, Clements MJ, Counts RB, et al: Treatment type and amount influenced
56. Revel-Vilk S, Golomb MR, Achonu C, et al: Effect of intracranial bleeds on the health human immunodeficiency virus seroprevalence of patients with congenital bleeding
and quality of life of boys with hemophilia. J Pediatr 144: 490, 2004. disorders. Blood 78:1623, 1991.
57. Rodriguez-Merchan EC: Orthopaedic surgery in persons with haemophilia. Thromb 90. Aguzzi A, Nuvolone M, Zhu C: The immunobiology of prion diseases. Nat Rev Immunol
Haemost 89:34, 2003. 13:888, 2013.
58. Rabiner SF, Telfer MC: Home transfusion for patients with hemophilia A. N Engl J Med 91. Shanbrom E, Owens W: Cascade iodination: A novel method to enhance the safety and
283:1011, 1977. efficacy of therapeutic proteins. J Thromb Haemost 2:836, 2004.
59. Teitel JM, Barnard D, Israels S, et al: Home management of haemophilia. Haemophilia 92. Ironside JW: Variant Creutzfeldt-Jakob disease. Folia Neuropathol 50:50, 2012.
10:118, 2004. 93. Dolan G: Clinical implications of emerging pathogens in haemophilia: The variant
60. Manco-Johnson MJ, Riske B, Kasper CK: Advances in care of children with hemophilia. Creutzfeldt-Jakob disease experience. Haemophilia 12:16, 2006.
Semin Thromb Hemost 29:585, 2003. 94. Kurachi K, Davie EW: Isolation and characterization of a cDNA coding for factor IX.
61. Nilsson IM, Berntorp E, Lofqvist T, Pettersson H: Twenty-five years’ experience of pro- Proc Natl Acad Sci U S A 79:6461, 1982.
phylactic treatment in severe haemophilia A and B. J Intern Med 232:25, 1992. 95. Rallapalli PM, Kemball-Cook G, Tuddenham EG, et al: An interactive mutation data-
62. Manco-Johnson MJ, Abshire TC, Shapiro AD et al: Prophylaxis versus episodic treat- base for human coagulation factor IX provides novel insights into the phenotypes and
ment to prevent joint disease in boys with severe hemophilia. N Engl J Med 357:535, 2007. genetics of hemophilia B. J Thromb Haemost 11:1329, 2013.
63. Price VE, Carcao M, Connolly B, et al: A prospective, longitudinal study of central 96. F9 Mutation database available at http://www.factorix.org
venous catheter-related deep venous thrombosis in boys with hemophilia. J Thromb 97. Monroe DM, McCord DM, Huang MN, et al: Functional consequences of an arginine
Haemost 2:737, 2004. 180 to glutamine mutation in factor IX Hilo. Blood 73:1540, 1989.
64. Globe DR, Curtis RG, Koerper MA: Utilization of care in haemophilia: A resource- 98. Bertina RM, van der Linden IK, Mannucci PM, et al: Mutations in hemophilia Bm
based method for cost analysis from the Haemophilia Utilization Group Study (HUGS). occur at the Arg180-Val activation site or in the catalytic domain of factor IX. J Biol
Haemophilia 10(Suppl 1):63, 2004. Chem 265:10876, 1990.
65. Levetow LB, Sox HC, Stoto MA: HIV and the Blood Supply: An Analysis of Crisis Deci- 99. Bottema CD, Ketterling RP, Ii S, et al: Missense mutations and evolutionary conser-
sion Making, Institute of Medicine, p 1. National Academy Press, Washington, DC, 1994. vation of amino acids: Evidence that many of the amino acids in factor IX function as
66. Santagostino E, De Filippi F, Rumi MG, et al: Sustained suppression of hepatitis C virus “spacer” elements. Am J Hum Genet 49:820, 1991.
by high doses of interferon and ribavirin in adult hemophilic patients. Transfusion 100. Ketterling RP, Bottema CD, Phillips JA III, Sommer SS: Evidence that descendants of
44:790, 2004. three founders constitute about 25% of hemophilia B in the United States. Genomics
67. Lollar P: Pathogenic antibodies to coagulation factors: I. Factor VIII and factor IX. J 10:1093, 1991.
Thromb Haemost 2:1082, 2004. 101. Briet E, Bertina RM, van Tilburg NH, Veltkamp JJ: Hemophilia B Leyden: A sex-linked
68. Iorio A: Epidemiology of inhibitors in hemophilia, in Textbook of Hemophilia, 3rd ed, hereditary disorder that improves after puberty. N Engl J Med 306:788, 1982.
edited by CA Lee, EE Berntorp, WK Hoots, p 53. Wiley Blackwell, Hoboken, NJ, 2014. 102. Kurachi S, Huo JS, Ameri A, et al: An age-related homeostasis mechanism is essen-
69. Hoots WK, Lusher J: High-titer inhibitor development in hemophilia A: Lack of prod- tial for spontaneous amelioration of hemophilia B Leyden. Proc Natl Acad Sci U S A
uct specificity. J Thromb Haemost 2:358, 2004. 106:7921, 2009.

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