Problems and solutions in laboratory testing for hemophilia

Seminars in Thrombosis and Hemostasis

Volumn 39, Issue 7, 2013, Pages 816-833

  Favaloro, Emmanuel J ^a   Meijer, Piet ^b   Jennings, Ian ^c   Sioufi, John ^d   Bonar, Roslyn A ^d   Kitchen, Dianne P ^b   Kershaw, Geoffrey ^e   Lippi, Giuseppe ^f  

^a WESTMEAD HOSPITAL   (Australia)

^b ECAT Foundation   (Netherlands)

^c UK NEQAS Blood Coagulation   (United Kingdom)

^d RCPAQAP Haematology   (Australia)

^e ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^f ACADEMIC HOSPITAL OF PARMA   (Italy)

Author keywords

analytical; diagnostic practice; hemophilia; laboratory testing; preanalytical; quality

Indexed keywords

APIXABAN; RIVAROXABAN; WARFARIN;

ANTICOAGULANT THERAPY; ARTICLE; BLOOD SAMPLING; CLINICAL ASSESSMENT; DISEASE SEVERITY; HEMOPHILIA; HEMOPHILIA A; HEMOPHILIA B; HEMOSTASIS; HUMAN; LABORATORY TEST; PHLEBOTOMIST; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROBLEM SOLVING;

CLINICAL LABORATORY TECHNIQUES; HEMOPHILIA A; HEMOPHILIA B; HUMANS;

EID: 84885068945     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0033-1356573     Document Type: Article

References (96)

1. Santagostino E., Fasulo M. R. Hemophilia A and hemophilia B: different types of diseases? Semin Thromb Hemost: 2013; 39 7 697 701
2. Pavlova A., Oldenburg J. Defining severity of hemophilia: more than factor levels. Semin Thromb Hemost: 2013; 39 7 702 710
3. Tay L., Duncan E., Singhal D., et al. Twelve years of experience of acquired hemophilia A: trials and tribulations in South Australia. Semin Thromb Hemost: 2009; 35 8 769 777
4. Coppola A., Favaloro E. J., Tufano A., Di Minno M. N., Cerbone A. M., Franchini M. Acquired inhibitors of coagulation factors: part I-acquired hemophilia A. Semin Thromb Hemost: 2012; 38 5 433 446
5. Webert K. E. Acquired hemophilia A. Semin Thromb Hemost: 2012; 38 7 735 741
6. Franchini M., Lippi G. Acquired hemophilia A. Adv Clin Chem: 2011; 54 71 80
7. Franchini M., Zaffanello M., Lippi G. Acquired hemophilia in pediatrics: a systematic review. Pediatr Blood Cancer: 2010; 55 4 606 611
8. Franchini M., Targher G., Montagnana M., Lippi G. Laboratory, clinical and therapeutic aspects of acquired hemophilia A. Clin Chim Acta: 2008; 395 1-2 14 18
9. White G. C. II, Rosendaal F., Aledort L. M., Lusher J. M., Rothschild C., Ingerslev J.; Factor VIII and Factor IX Subcommittee. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost: 2001; 85 3 560 (Pubitemid 32233035)
10. Preston F. E., Kitchen S., Jennings I., Woods T. A., Makris M. SSC/ISTH classification of hemophilia A: can hemophilia center laboratories achieve the new criteria? J Thromb Haemost: 2004; 2 2 271 274 (Pubitemid 40186041)
11. Mannucci P. M., Franchini M. Is haemophilia B less severe than haemophilia A? Haemophilia: 2013; 19 4 499 502
12. Santoro C., Baldacci E., Mercanti C., Mazzucconi M. G. Tailored versus standard dose prophylaxis in children with hemophilia A. Semin Thromb Hemost: 2013; 39 7 711 722
13. Di Perna C., Riccardi F., Franchini M., Rivolta G. F., Pattacini C., Tagliaferri A. Clinical efficacy and determinants of response to treatment with desmopressin in mild hemophilia A. Semin Thromb Hemost: 2013; 39 7 732 739
14. Lippi G., Favaloro E. J., Franchini M. Paradoxical thrombosis part 1: factor replacement therapy, inherited clotting factor deficiencies and prolonged APTT. J Thromb Thrombolysis: 2012; 34 3 360 366
15. Verbruggen B., Meijer P., Novákova I., Van Heerde W. Diagnosis of factor VIII deficiency. Haemophilia: 2008; 14 03 76 82 (Pubitemid 351722387)
16. Franchini M., Coppola A., Tagliaferri A., Lippi G. FEIBA versus NovoSeven in hemophilia patients with inhibitors. Semin Thromb Hemost: 2013; 39 7 772 778
17. Persson E., Olsen O. H., Bjorn S. E., Ezban M. Vatreptacog alfa from conception to clinical proof of concept. Semin Thromb Hemost: 2012; 38 3 274 281
18. Lippi G., Franchini M., Montagnana M., Salvagno G. L., Poli G., Guidi G. C. Quality and reliability of routine coagulation testing: can we trust that sample? Blood Coagul Fibrinolysis: 2006; 17 7 513 519 (Pubitemid 44434960)
19. Favaloro E. J., (Adcock) Funk D. M., Lippi G. Preanalytical variables in coagulation testing associated to diagnostic errors in hemostasis. Lab Med: 2012; 43 54 60
20. Plebani M., Favaloro E. J., Lippi G. Patient safety and quality in laboratory and hemostasis testing: a renewed loop? Semin Thromb Hemost: 2012; 38 6 553 558
21. Lippi G., Simundic A. M. Laboratory networking and sample quality: a still relevant issue for patient safety. Clin Chem Lab Med: 2012; 50 10 1703 1705
22. Bonar R., Favaloro E. J., Adcock D. Quality in coagulation and haemostasis testing. Biochem Med: 2010; 20 2 184 199
23. Schulman S., Eelde A., Holmström M., Ståhlberg G., Odeberg J., Blombäck M. Validation of a composite score for clinical severity of hemophilia. J Thromb Haemost: 2008; 6 7 1113 1121 (Pubitemid 351859120)
24. Vyas S., Enockson C., Hernandez L., Valentino L. A. Towards personalizing haemophilia care: using the Haemophilia Severity Score to assess 178 patients in a single institution. Haemophilia: 2013;; (e-pub ahead of print). doi: 10.1111/hae.12227
25. Lippi G., Fostini R., Guidi G. C. Quality improvement in laboratory medicine: extra-analytical issues. Clin Lab Med: 2008; 28 2 285 294, vii (Pubitemid 351649357)
26. Lippi G., Blanckaert N., Bonini P., et al. Causes, consequences, detection, and prevention of identification errors in laboratory diagnostics. Clin Chem Lab Med: 2009; 47 2 143 153
27. Lippi G., Salvagno G. L., Montagnana M., Lima-Oliveira G., Guidi G. C., Favaloro E. J. Quality standards for sample collection in coagulation testing. Semin Thromb Hemost: 2012; 38 6 565 575
28. Adcock Funk D. M., Lippi G., Favaloro E. J. Quality standards for sample processing, transportation, and storage in hemostasis testing. Semin Thromb Hemost: 2012; 38 6 576 585
29. Xu J., Yu Z., Zhang L., Ruan C., Yang R. Diagnosis and management of von Willebrand disease in China. Semin Thromb Hemost: 2011; 37 5 607 614
30. Favaloro E. J., Mohammed S., Koutts J. Identification and prevalence of von Willebrand disease type 2N (Normandy) in Australia. Blood Coagul Fibrinolysis: 2009; 20 8 706 714
31. Favaloro E. J. Von Willebrand disease: local diagnosis and management of a globally distributed bleeding disorder. Semin Thromb Hemost: 2011; 37 5 440 455
32. Gadisseur A., Hermans C., Berneman Z., Schroyens W., Deckmyn H., Michiels J. J. Laboratory diagnosis and molecular classification of von Willebrand disease. Acta Haematol: 2009; 121 2-3 71 84
33. Michiels J. J., Gadisseur A., Vangenegten I., Schroyens W., Berneman Z. Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1. Acta Haematol: 2009; 121 2-3 119 127
34. Gaucher C., Jorieux S., Mercier B., Oufkir D., Mazurier C. The "Normandyo" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene. Blood: 1991; 77 9 1937 1941
35. Spreafico M., Peyvandi F. Combined factor V and factor VIII deficiency. Semin Thromb Hemost: 2009; 35 4 390 399
36. Zheng C., Zhang B. Combined deficiency of coagulation factors V and VIII: an update. Semin Thromb Hemost: 2013; 39 6 613 620
37. Peyvandi F., Favaloro E. J. Rare bleeding disorders. Semin Thromb Hemost: 2009; 35 4 345 347
38. Page D. A. Change designation of clotting factors to Arabic numerals. J Thromb Haemost: 2009; 7 9 1599
39. Favaloro E. J., Lippi G. Problems in laboratory testing: hemophilia and beyond. J Thromb Haemost: 2010; 8 5 1119 1120
40. Favaloro E. J., Lippi G. The new oral anticoagulants and the future of haemostasis laboratory testing. Biochem Med (Zagreb): 2012; 22 3 329 341
41. Favaloro E. J., Lippi G., Koutts J. Laboratory testing of anticoagulants: the present and the future. Pathology: 2011; 43 7 682 692
42. Cooper P. C., Goodeve A. C., Beauchamp N. J. Quality in molecular biology testing for inherited thrombophilia disorders. Semin Thromb Hemost: 2012; 38 6 600 612
43. Favaloro E. J., Bonar R., Duncan E., et al. RCPA QAP in Haematology Haemostasis Committee. Identification of factor inhibitors by diagnostic haemostasis laboratories: a large multi-centre evaluation. Thromb Haemost: 2006; 96 1 73 78 (Pubitemid 44160873)
44. Favaloro E. J., Bonar R., Duncan E., et al. Mis-identification of factor inhibitors by diagnostic haemostasis laboratories: recognition of pitfalls and elucidation of strategies. A follow up to a large multicentre evaluation. Pathology: 2007; 39 5 504 511 (Pubitemid 47454494)
45. Halbmayer W. M., Weigel G., Quehenberger P., et al. Interference of the new oral anticoagulant dabigatran with frequently used coagulation tests. Clin Chem Lab Med: 2012; 50 9 1601 1605
46. Asmis L. M., Alberio L., Angelillo-Scherrer A., et al. Rivaroxaban: Quantification by anti-FXa assay and influence on coagulation tests: a study in 9 Swiss laboratories. Thromb Res: 2012; 129 4 492 498
47. Hillarp A., Baghaei F., Fagerberg Blixter I., et al. Effects of the oral, direct factor Xa inhibitor rivaroxaban on commonly used coagulation assays. J Thromb Haemost: 2011; 9 1 133 139
48. van Ryn J., Stangier J., Haertter S., et al. Dabigatran etexilate-a novel, reversible, oral direct thrombin inhibitor: interpretation of coagulation assays and reversal of anticoagulant activity. Thromb Haemost: 2010; 103 6 1116 1127
49. Favaloro E. J., Soltani S., McDonald J., Grezchnik E., Easton L. Cross-laboratory audit of normal reference ranges and assessment of ABO blood group, gender and age on detected levels of plasma coagulation factors. Blood Coagul Fibrinolysis: 2005; 16 8 597 605 (Pubitemid 41658981)
50. Lippi G., Salvagno G. L., Adcock D. M., Gelati M., Guidi G. C., Favaloro E. J. Right or wrong sample received for coagulation testing? Tentative algorithms for detection of an incorrect type of sample. Int J Lab Hematol: 2010; 32 1 Pt 2 132 138
51. Lippi G., Simundic A. M. Laboratory networking and sample quality: a still relevant issue for patient safety. Clin Chem Lab Med: 2012; 50 10 1703 1705
52. Lima-Oliveira G., Lippi G., Salvagno G. L., Montagnana M., Picheth G., Guidi G. C. Incorrect order of draw could be mitigate the patient safety: a phlebotomy management case report. Biochem Med (Zagreb): 2013; 23 2 218 223
53. Salvagno G. L., Lima-Oliveira G., Brocco G., Danese E., Guidi G. C., Lippi G. The order of draw: myth or science? Clin Chem Lab Med: 2013; 1-5 1 5 10.1515/cclm-2013-0412 [Epub ahead of print].)
54. Lippi G., Salvagno G. L., Montagnana M., Guidi G. C. Short-term venous stasis influences routine coagulation testing. Blood Coagul Fibrinolysis: 2005; 16 6 453 458 (Pubitemid 41215741)
55. Lippi G., Plebani M., Favaloro E. J. Interference in coagulation testing: focus on spurious hemolysis, icterus, and lipemia. Semin Thromb Hemost: 2013; 39 3 258 266
56. Lippi G., Salvagno G. L., Montagnana M., Guidi G. C. Influence of primary sample mixing on routine coagulation testing. Blood Coagul Fibrinolysis: 2007; 18 7 709 711 (Pubitemid 47479427)
57. Lippi G., Plebani M. Primary blood tubes mixing: time for updated recommendations. Clin Chem Lab Med: 2012; 50 4 599 600
58. Lippi G., Lima-Oliveira G., Nazer S. C., et al. Suitability of a transport box for blood sample shipment over a long period. Clin Biochem: 2011; 44 12 1028 1029
59. Salvagno G. L., Lippi G., Montagnana M., Franchini M., Poli G., Guidi G. C. Influence of temperature and time before centrifugation of specimens for routine coagulation testing. Int J Lab Hematol: 2009; 31 4 462 467
60. Lippi G., Salvagno G. L., Montagnana M., Poli G., Guidi G. C. Influence of centrifuge temperature on routine coagulation testing. Clin Chem: 2006; 52 3 537 538
61. Lippi G., Salvagno G. L., Montagnana M., Manzato F., Guidi G. C. Influence of the centrifuge time of primary plasma tubes on routine coagulation testing. Blood Coagul Fibrinolysis: 2007; 18 5 525 528 (Pubitemid 46975959)
62. Lippi G., Rossi R., Ippolito L., Zobbi V., Azzi D., Pipitone S., Favaloro E. J., Adcock Funk D. M. Influence of residual platelet count on routine coagulation, factor VIII, and factor IX testing in postfreeze-thaw samples. Semin Thromb Hemost: 2013; 39 7 834 839
63. Lippi G., Salvagno G. L., Bassi A., Montagnana M., Poli G., Guidi G. C. Dishomogeneous separation of citrated plasma in primary collection tubes for routine coagulation testing. Blood Coagul Fibrinolysis: 2008; 19 4 330 332 (Pubitemid 351670424)
64. Favaloro E. J. Standardization, regulation, quality assurance and emerging technologies in hemostasis: issues, controversies, benefits, and limitations. Semin Thromb Hemost: 2007; 33 3 290 297 (Pubitemid 46581384)
65. Olson J. D., Preston F. E., Nichols W. L. External quality assurance in thrombosis and hemostasis: an international perspective. Semin Thromb Hemost: 2007; 33 3 220 225 (Pubitemid 46581375)
66. Favaloro E. J., Bonar R., Marsden K. Lower limit of assay sensitivity: an under-recognised and significant problem in von Willebrand disease identification and classification. Clin Lab Sci: 2008; 21 3 178 183
67. Jennings I., Kitchen D. P., Kitchen S., Woods T. A., Walker I. D. Investigation of a prolonged APTT. Different approaches taken by laboratories to achieve the same diagnosis. Int J Lab Hematol: 2013; 35 2 177 182
68. Kershaw G., Orellana D. Mixing tests: diagnostic aides in the investigation of prolonged prothrombin times and activated partial thromboplastin times. Semin Thromb Hemost: 2013; 39 3 283 290
69. Kershaw G., Favaloro E. J. Laboratory identification of factor inhibitors: an update. Pathology: 2012; 44 4 293 302
70. Favaloro E. J., Bonar R., Kershaw G., Duncan E., Sioufi J., Marsden K. Investigations from external quality assurance programs reveal a high degree of variation in the laboratory identification of coagulation factor inhibitors. Semin Thromb Hemost: 2009; 35 8 794 805
71. Favaloro E. J., Bonar R., Kershaw G., Mohammed S., Duncan E., Marsden K.; RCPA Haematology QAP Haemostasis Committee. Laboratory identification of factor VIII inhibitors in the real world: the experience from Australasia. Haemophilia: 2010; 16 4 662 670
72. Bonar R. A., Favaloro E. J., Marsden K. External quality assessment of factor VIII inhibitor assays. Semin Thromb Hemost: 2013; 39 3 320 326
73. Meijer P., Verbruggen B. The between-laboratory variation of factor VIII inhibitor testing: the experience of the external quality assessment program of the ECAT foundation. Semin Thromb Hemost: 2009; 35 8 786 793
74. Kitchen S., Jennings I., Preston F. E., Kitchen D. P., Woods T. A., Walker I. D. Interlaboratory variation in factor VIII:C inhibitor assay results is sufficient to influence patient management: data from the UK national quality external assessment scheme for blood coagulation. Semin Thromb Hemost: 2009; 35 8 778 785
75. Dardikh M., Meijer P., van der Meer F., Favaloro E. J., Verbruggen B. Acquired functional coagulation inhibitors: review on epidemiology, results of a wet-workshop on laboratory detection, and implications for quality of inhibitor diagnosis. Semin Thromb Hemost: 2012; 38 6 613 621
76. Verbruggen B., Dardikh M., Polenewen R., van Duren C., Meijer P. The factor VIII inhibitor assays can be standardized: results of a workshop. J Thromb Haemost: 2011; 9 10 2003 2008
77. Lippi G., Franchini M., Favaloro E. J. One-stage clotting versus chromogenic assays for assessing recombinant factor VIII: two faces of a haemostasis coin. Blood Coagul Fibrinolysis: 2009; 20 1 1 3
78. Duncan E. M., Rodgers S. E., McRae S. J. Diagnostic testing for mild hemophilia a in patients with discrepant one-stage, two-stage, and chromogenic factor VIII:C assays. Semin Thromb Hemost: 2013; 39 3 272 282
79. Bowyer A. E., van Veen J. J., Goodeve A., Kitchen S., Makris M. Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. Haematologica: 2013;; doi: 10.3324/haematol.2013.088088
80. Lippi G., Favaloro E. J. Activated partial thromboplastin time: new tricks for an old dogma. Semin Thromb Hemost: 2008; 34 7 604 611
81. Watson H. G., Greaves M. Can we predict bleeding? Semin Thromb Hemost: 2008; 34 1 97 103
82. Hayward C. P., Moffat K. A., Liu Y. Laboratory investigations for bleeding disorders. Semin Thromb Hemost: 2012; 38 7 742 752
83. Lippi G., Mengoni A., Manzato F. Sensitivity of two commercial reagents for prothrombin time and activated partial thromboplastin time to isolate coagulation factor deficiencies. Eur J Lab Med: 1999; 7 61 65 (Pubitemid 30008761)
84. Bowyer A., Kitchen S., Makris M. The responsiveness of different APTT reagents to mild factor VIII, IX and XI deficiencies. Int J Lab Hematol: 2011; 33 2 154 158
85. Salvagno G. L., Berntorp E. Thrombin generation testing for monitoring hemophilia treatment: a clinical perspective. Semin Thromb Hemost: 2010; 36 7 780 790
86. Favaloro E. J., Lippi G. Coagulation update: what's new in hemostasis testing? Thromb Res: 2011; 127 02 S13 S16
87. Wegner J., Popovsky M. A. Clinical utility of thromboelastography: one size does not fit all. Semin Thromb Hemost: 2010; 36 7 699 706
88. Dargaud Y., Sorensen B., Shima M., Hayward C., Srivastava A., Negrier C. Global haemostasis and point of care testing. Haemophilia: 2012; 18 04 81 88
89. Livnat T., Martinowitz U., Azar-Avivi S., et al. Combined administration of FVIII and rFVIIa improves haemostasis in haemophilia A patients with high-responding inhibitors - a thrombin generation-guided pilot study. Haemophilia (e-pub ahead of print) 2013; doi: 10.1111/hae.12181
90. Tarandovskiy I. D., Balandina A. N., Kopylov K. G., et al. Investigation of the phenotype heterogeneity in severe hemophilia A using thromboelastography, thrombin generation, and thrombodynamics. Thromb Res: 2013; 131 6 e274 e280
91. Al Hawaj M. A., Martin E. J., Venitz J., et al. Monitoring rFVIII prophylaxis dosing using global haemostasis assays. Haemophilia: 2013; 19 3 409 414
92. Young G., Sorensen B., Dargaud Y., Negrier C., Brummel-Ziedins K., Key N. S. Thrombin generation and whole blood viscoelastic assays in the management of hemophilia: current state of art and future perspectives. Blood: 2013; 121 11 1944 1950
93. Ay Y., Balkan C., Karapinar D. Y., Akin M., Bilenoǧlu B., Kavakli K. Feasibility of using thrombin generation assay (TGA) for monitoring of haemostasis during supplementation therapy in haemophilic patients without inhibitors. Haemophilia: 2012; 18 6 911 916
94. Kluft C., Meijer P. External quality assessment for thrombin generation tests: an exploration. Semin Thromb Hemost: 2010; 36 7 791 796
95. Kitchen D. P., Kitchen S., Jennings I., Woods T., Walker I. Quality assurance and quality control of thrombelastography and rotational Thromboelastometry: the UK NEQAS for blood coagulation experience. Semin Thromb Hemost: 2010; 36 7 757 763
96. Kershaw G., Jayakodi D., Dunkley S. Laboratory identification of factor inhibitors: the perspective of a large tertiary hemophilia center. Semin Thromb Hemost: 2009; 35 8 760 768