Laboratory issues in bleeding disorders

Haemophilia

Volumn 14, Issue SUPPL. 3, 2008, Pages 93-103

  Rodeghiero, Francesco ^a   Ruiz Saez A ^b   Bolton maggs, P H B ^c   Hayward, C P M ^d   Nair, S C ^e   Srivastava, A ^e  

^a SAN BORTOLO HOSPITAL   (Italy)

^b Banco Munic Sangre Distrito F   (Venezuela)

^c MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^d MCMASTER UNIVERSITY   (Canada)

^e CHRISTIAN MEDICAL COLLEGE   (India)

Author keywords

Diagnosis; Haemorrhagic disorders; Laboratory test

Indexed keywords

BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; FIBRINOGEN; PROTHROMBIN; VITAMIN K GROUP;

ARTICLE; BLEEDING DISORDER; BLEEDING TIME; BLOOD CLOTTING PARAMETERS; BLOOD CLOTTING TEST; DIAGNOSTIC ACCURACY; ETHNIC DIFFERENCE; GENE MUTATION; HEMOGLOBIN BLOOD LEVEL; HEMOPHILIA A; HEMOPHILIA B; HETEROZYGOSITY; HUMAN; IMMUNOASSAY; LABORATORY DIAGNOSIS; PARTIAL THROMBOPLASTIN TIME; PREVALENCE; PRIORITY JOURNAL; PROTHROMBIN TIME; SCREENING TEST; SENSITIVITY AND SPECIFICITY; SOUTH AND CENTRAL AMERICA; STANDARDIZATION; THROMBOCYTE AGGREGATION; THROMBOCYTE FUNCTION; THROMBOPLASTIN TIME; VON WILLEBRAND DISEASE; WORKSHOP;

HEMORRHAGIC DISORDERS; HUMANS; LABORATORY TECHNIQUES AND PROCEDURES; PLATELET FUNCTION TESTS; PRACTICE GUIDELINES AS TOPIC; WORLD HEALTH;

EID: 44249092305     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01716.x     Document Type: Article

References (54)

1. Rodeghiero F, Castaman G. von Willebrand disease: Epidemiology. In: Lee C, Berntorp E, Hoots K, eds. Textbook of Haemophilia. Oxford: Blackwell Publisher, 2004: 265-71.
2. Peyvandi F, Kaufman RJ, Seligsohn U et al. Rare bleeding disorders. Haemophilia 2006; 12(Suppl. 3): 137-42.
3. WFH. Global Survey on Hemophilia. Montreal: WFH, 2006.
4. Woods AI, Meschengieser SS, Blanco AN et al. Clinical features and laboratory patterns in a cohort of consecutive Argentinian patients with von Willebrand's disease. Haematologica 2001; 86: 420-7.
5. Rezende SM, Pinheiro K, Vieira EC. Registro das coagulopatias hereditarias no Brasil 2006. Analise preliminar. Rev Brás Hematol Hemoter 2006; 2: 86.
6. Arocha-Piñango CL, Rodriguez S, Nagy H, Rerez-Requejo JL. Fibrinogen Lima: A new dysfibrinogenemia with a high molecular weight alpha vhain and effective polymerization. Blood Coagul Fibrinolysis 1990; 1: 561-5.
7. De Bosch NB, Mosesson MW, Ruiz-Saez A, Echenagucia M, Rodriguez-Lemoine A. Inhibition of thrombin generation in plasma by fibrin formation (Antithrombin I). Thromb Haemost 2002; 88: 253-8.
8. Sun W, Ruiz-Saez A, Burkart MC, Bosch N, Degen SJ. Prothrombin Carora: hypoprothrombinaemia caused by substitution of Tyr-44 by Cys. Br J Haematol 1999; 105: 670-2.
9. Sekine O, Sugo T, Ebisawa K et al. Substitution of Gly-548 to Ala in the substrate binding pocket of prothrombin Perijáleads to the loss of thrombin proteolytic activity. Thromb Haemost 2002; 87: 282-7.
10. Lefkowitz JB, Weller A, Nuss R, Santiago-Borrero PJ, Brown DL, Ortiz IR. A common mutation, Arg457->Gln, links prothrombin deficiencies in the Puerto Rican population. J Thromb Haemost 2003; 1: 2381-8.
11. Herrmann FH, Wulf FK, Ruiz-saez A, de Bosch N. Molecular analysis of FVII gene in factor VII deficiency patients of Venezuela. Haemophilia 2002; 8: 559 (Abstract).
12. Rodrigues DN, Siqueira LH, Galizoni AM, Arruda VR, Annichino-Bizzacchi JM. Prevalence of factor VII deficiency and molecular characterization of the F7 gene in Brazilian patients. Blood Coagul Fibrinolysis 2003; 14: 289-92.
13. Herrmann FH, Auerswald G, Ruiz-Saez A et al. Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene. Haemophilia 2006; 12: 479-89.
14. Rossetti LC, Radic CP, Candela M et al. Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects. Haematologica 2007; 92: 842-5.
15. Mantilla-Capacho JM, Beltrán-Miranda CP, Luna-Záizar H et al. Frequency of intron 1 and 22 inversions of Factor VIII gene in Mexican patients with severe hemophilia A. Am J Hematol 2007; 82: 283-7.
16. WFH. Global Survey on Hemophilia. Montreal: WFH, 2004.
17. Bolton-Maggs PH, Perry DJ, Chalmers EA et al. The rare coagulation disorders -review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organization. Haemophilia 2004; 10: 593-628.
18. Monagle P, Barnes C, Ignjatovic V et al. Developmental haemostasis. Impact for clinical haemostasis laboratories. Thromb Haemost 2006; 95: 362-72.
19. Andrew M, Paes B, Milner R et al. Development of the human coagulation system in the healthy premature infant. Blood 1988; 72: 1651-7.
20. Andrew M, Vegh P, Johnston M, Bowker J, Ofosu F, Mitchell L. Maturation of the hemostatic system during childhood. Blood 1992; 80: 1998-2005.
21. Jennings I, Kitchen S, Woods TA, Preston FE. Problems relating to the laboratory diagnosis of factor XIII deficiency: A UK NEQAS study. J Thromb Haemost 2003; 1: 2603-8.
22. Jennings I, Kitchen S, Woods TA, Preston FE. Development of a World Federation of Haemophilia External Quality Assessment scheme: Results of a pilot study. Haemophilia 1996; 2: 41-6.
23. Jennings I, Kitchen S, Woods TA, Preston FE. Laboratory performance of haemophilia centres in developing countries: 3 years' experience of the World Federation of Hemophilia External Quality Assessment Scheme. Haemophilia 1998; 4: 739-46.
24. Hayward CP, Rao AK, Cattaneo M. Congenital platelet disorders: Overview of their mechanisms, diagnostic evaluation and treatment. Haemophilia 2006; 12(Suppl 3): 128-36.
25. Hayward CP, Eikelboom J. Platelet function testing: Quality assurance. Semin Thromb Hemost 2007; 33: 273-82.
26. Nurden AT, Nurden P. Inherited disorders of platelets: An update. Curr Opin Hematol 2006; 13: 157-62.
27. Quiroga T, Goycoolea M, Panes O et al. High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. A prospective study of 280 patients and 299 controls. Haematologica 2007; 92: 357-65.
28. Greaves M, Watson HG. Approach to the diagnosis and management of mild bleeding disorders. J Thromb Haemost 2007; 5(Suppl. 1): 167-74.
29. Hayward CP. Diagnosis and management of mild bleeding disorders. Hematology Am Soc Hematol Educ Program 2005: 423-8.
30. Dybkaer R. Quality assurance, accreditation, and certification: Needs and possibilities. Clin Chem 1994; 40: 1416-20.
31. Clark GB. Quality assurance, an administrative means to a managerial end. Part I. A historical overview. Clin Lab Manage Rev 1990; 4: 7-15.
32. Uldall A. Quality assurance in clinical laboratories. An updated supplement to a bibliography. Eur J Haematol Suppl 1990; 53: 22-37.
33. Michelson AD, Cattaneo M, Eikelboom JW et al. Aspirin resistance: position paper of the Working Group on aspirin resistance. J Thromb Haemost 2005; 3: 1309-11.
34. Moffat KA, Ledford-Kraemer MR, Nichols WL, Hayward CP. Variability in clinical laboratory practice in testing for disorders of platelet function: Results of two surveys of the North American Specialized Coagulation Laboratory Association. Thromb Haemost 2005; 93: 549-53.
35. Hayward CP, Harrison P, Cattaneo M, Ortel TL, Rao AK. Platelet function analyzer (PFA)-100 closure time in the evaluation of platelet disorders and platelet function. J Thromb Haemost 2006; 4: 312-9.
36. The British Society for Hematology. Guidelines on platelet function testing. BCSH Haemostasis and Thrombosis Task Force. J Clin Pathol 1998; 41: 1322-30.
37. Quiroga T, Goycoolea M, Munoz B et al. Template bleeding time and PFA-100 have low sensitivity to screen patients with hereditary mucocutaneous hemorrhages: Comparative study in 148 patients. J Thromb Haemost 2004; 2: 892-8.
38. Favaloro EJ. Clinical application of the PFA-100. Curr Opin Hematol 2002; 9: 407-15.
39. Lind SE. The bleeding time. In: Michelson AD, eds. Platelets. San Diego: Academic Press, 2002: 283-9.
40. Breddin HK. Can platelet aggregometry be standardized? Platelets 2005; 16: 151-8.
41. Cattaneo M, Lecchi A, Zighetti ML, Lussana F. Platelet aggregation studies: Autologous platelet-poor plasma inhibits platelet aggregation when added to platelet-rich plasma to normalize platelet count. Haematologica 2007; 92: 694-7.
42. Mani H, Luxembourg B, Klaffling C, Erbe M, Lindhoff-Last E. Use of native or platelet count adjusted platelet rich plasma for platelet aggregation measurements. J Clin Pathol 2005; 58: 747-50.
43. Taylor JM, Cumberland WG, Meng X, Giorgi JV. Normal range estimation for repeated immunologic measures. Clin Diagn Lab Immunol 1996; 3: 139-42.
44. Mielke CH Jr, Kaneshiro MM, Maher IA, Weiner JM, Rapaport SI. The standardized normal Ivy bleeding time and its prolongation by aspirin. Blood 1969; 34: 204-15.
45. Ivy AC, Nelson D, Bucher G. The standardization of certain factors in the cutaneous "venostasis" bleeding time technique. J Lab Clin Med 1941; 26: 1812-22.
46. Koster T, Caekebeke-Peerlinck KMJ, Briet E. A randomized and blinded comparison of the sensitivity and the reproducibility of the Ivy and Simplate II bleeding time techniques. Am J Clin Pathol 1989; 92: 315-20.
47. Kitchen S, McCraw A. Diagnosis of Haemophilia and Other Bleeding Disorders: A Laboratory Manual. Publication of World Federation of Haemophilia, 2000.
48. Mammen J, Nair SC, Srivastava A. External quality assessment scheme for hemostasis in India. Semin Thromb Hemost 2007; 33: 265-72.
49. Barna L, Triplett DA. Use of the activated partial thromboplastin time for the diagnosis of congenital coagulation disorders: Problems and possible solutions. Ric Clin Lab 1989; 19: 345-54.
50. Howarth S. Activated partial thromboplastin time reagents: An evaluation. Br J Biomed Sci 1993; 50: 109-13.
51. Barrowcliffe TW. Standardization of assays for FVIII and FIX. Ric Clin Lab 1990; 20: 155-65.
52. Favaloro EJ, Soltani S, McDonald J. Potential laboratory misdiagnosis of haemophilia and von Willebrand disorder owing to cold activation of blood samples for testing. Am J Clin Pathol 2004; 122: 686-92.
53. Lillicrap D, Nair SC, Rodeghiero F et al. Laboratory issues in bleeding disorders. Haemophilia 2006; 12(Suppl. 3): 68-75.
54. Giangrande PL, Black C. World Federation of Hemophilia programs in developing countries. Semin Thromb Hemost 2005; 31: 555-60.