Flow cytometry as a tool in the diagnosis of bernard-Soulier syndrome in brazilian patients

Platelets

Volumn 20, Issue 4, 2009, Pages 229-234

  Beltrame, Miriam P ^a   Malvezzi, M ^a   Zanis, J ^a   Pasquini, R ^a  

^a FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

Author keywords

Flow cytometry; Glycoprotein platelets

Indexed keywords

CD9 ANTIGEN; GLYCOPROTEIN IB; GLYCOPROTEIN IB ALPHA; GLYCOPROTEIN IIB; GLYCOPROTEIN IIIA; GLYCOPROTEIN IX; UNCLASSIFIED DRUG;

ADULT; ANTIGEN EXPRESSION; ARTICLE; BERNARD SOULIER DISEASE; BLEEDING TIME; BRAZIL; CHILD; CLINICAL ARTICLE; DIAGNOSTIC VALUE; FLOW CYTOMETRY; HUMAN; PARTIAL THROMBOPLASTIN TIME; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTHROMBIN TIME;

ADOLESCENT; ADULT; ANTIBODIES, MONOCLONAL; ANTIGENS, CD; BERNARD-SOULIER SYNDROME; BRAZIL; CHILD; CHILD, PRESCHOOL; FLOW CYTOMETRY; HUMANS; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; PLATELET MEMBRANE GLYCOPROTEINS; YOUNG ADULT;

EID: 67651160497     PISSN: 09537104     EISSN: 13691635     Source Type: Journal    
DOI: 10.1080/09537100902893784     Document Type: Article

References (28)

1. Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier Syndrome. Blood 1998;91:4397-4418.
2. Lopez JA. The platelet glycoprotein Ib-IX complex. Blood Coagul Fibrinolysis 1994;5:97-119.
3. Fauvel-Lafeve F, Morandi V, Legrand C, Legrand YJ. Defective adhesion of blood platelets to vascular microfibrils in the Bernard-Soulier Syndrome. Blood 1993;7:1985-1988.
4. Wenche J. et al. Platelet aggregates as marker of platelet activation: Characterization of flow cytometric method suitable for clinical applications. Am J Hematol 1998;57:33-42.
5. Michelson AD. Evaluation of platelet function by flow cytometry. Methods 2000;21:259-270.
6. Shapiro HM. Overture. Practical flow cytometry, New York: Wiley-Liss; 1995. pp 1-32.
7. Hickerson DHM, Bode AP. Flow cytometry of platelets for clinical analysis. Hemtol Oncol Clin North Am 2002;16:421-454.
8. McCabe M, Jennings LK. Basic introduction to platelets. Platelet protocol: Research and clinical laboratory procedures. San Diego: Academic Press 1999;42:2-25.
9. Tomer A, Scharf RE, Mc Millan R, Ruggeri ZM, Harker LA. Bernard-Soulier Syndrome: Quantitative chraracterization of megakaryocytes and platelets by flow cytometric and platelet kinetic measurements. Eur J Haematol 1994;52:193-200.
10. Dermot K. The critical interaction of glycoprotein (GP) lbß with GPIX- genetic cause of Bernard-Soulier Syndrome. Blood 1999;93:2968-2975.
11. Moran N, Morateck A, Deering M, Ryan M, Montgomery R, Desmond J, Dermot K. Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: Evidence from a novel mutation causing Bernard-Soulier syndrome. Blood 2000;96:532-539.
12. Gonzalez-Manchon C, Butta N, Iruin G, Alonso S. Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes. Thromb Haemost 2003;90:456-464.
13. Afshar-Kharghan V, Ceaig FC, Lopez JA. Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein Ibα gene. Br J Haematol 2000;110:919-924.
14. Kunishima S, Lopez JA, Imai N, Kamyia T, Saito H, Naoe T. Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. Blood 1997;89:2404-2412.
15. Savoia A. et al. Autossomal dominant macrothrombocytopenia in Italy is most frequentely a type of heterozygous Bernard-Soulier syndrome. Blood 2001;97:1330-1335.
16. Pumpo MD, Noris P, Pecci A, Savoia A, Seri M, Ceresa IF, Balduini CL. Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. Haematologica 2002;87:943-947.
17. Balduini CL, Lolascon A, Savoia A. Inherited thrombocytopenias: From genes to therapy. Haematologica 2002; 87:860-880.
18. Dermot K, Jonsson G, Morateck PA, Montgomery RR. Naturally occurring mutations in glycoprotein Ibα that result in defective ligand binding and synthesis of a truncated protein. Blood 1998;92:175-183.
19. Hourdillé P. et al. Studies on the megakaryocytes of a patient with the Bernard-Soulier syndrome. Br J Haematol 1999; 76:521-530.
20. Li CQ, Dong JF, Lanza F, Sanan DA, Sae-Tung G, Lopez JA. Expression of platelet glycoprotein (GP) V in heterologous cells and evidence for its association with GPIb alpha in forming a GPIb-IX-V complex on the cell surface. J Bio Chem 1995;270:16302-16307.
21. Afshar-Karghan V, Lopez JA. Bernard-Soulier Syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Iba transmembrane domain. Blood 1997;90:2634-2643.
22. Noda MF, Fujimura K, Takafuta T, Shimomura T, Fujimoto T, Yamamoto M, Tanoue K, Arai M, Suehiro A, Kakishita E. Heterogenous expression of glycoprotein Ib, IX, and V in platelets from two patients with Bernerd-Soulier Syndrome caused by different genetic abnormalities. Thromb Haemost 1995;74:1411-1415.
23. Savoia A, Balduini CL, Savino M, Noris P, Vecchio MD, Perrotta S, Belletti S, Poggi V, lolascon A. Autossomal dominant macrothrombocytopenia in Italy is most frequentely a type of heterozygous Bernard-Soulier syndrome. Blood 2001;97:1330-1335.
24. Slupsky JR, Kamiguti AS, Rhodes NP, Cawley JC, Shaw AR, Zuze M. The platelet antigens CD9, CD42 and integrin alpha IIb beta IIIa can be topographically associated and transduce functionally similar signals. Eur J Biochem 1997;244:168-175.
25. Longhurst CM, White MM, Wilkinson DA, Jennings LK. A CD9 alphaIIbbeta3, integrin-associated protein, and GPIb/ V/IX complex on the surface of human platelets is influenced by alphallbbeta3 conformational states. Eur J Biochem 1999; 263:104-111.
26. Pham A, Wang J. Bernard-Soulier syndrome: An inherited platelet disorder. Arc Pathol Lab Med 2007;131:1834-1836.
27. Nurden AT, Nurden P. Inherited thrombocytopenias. Haematologica 2007;92:1158-1164.
28. Nurden P, Nurden AT. Congenital disorders associated with platelet dysfunctions. J Thromb Haemost 2008;99:253-263.