Hamostaseologie 2018; 38(02): 112-120
Schattauer GmbH Stuttgart
Characterization and Diagnostic Work-up of a Patient with Functionally Impaired Platelet GP6
Verena Klümpers
1
Institute of Transfusion Medicine and Immunology, Heidelberg University, Medical Faculty Mannheim, German Red Cross Blood Service Baden-Württemberg – Hessen, Mannheim Germany
,
Isabelle Müller
2
Institute of Clinical Hemostaseology and Transfusion Medicine, Saarland University and Saarland University Medical Center, 66421 Homburg, Germany
,
Peter Hellstern
3
Center of Hemostasis and Thrombosis, Zurich, Switzerland
,
Torsten J. Schulze
1
Institute of Transfusion Medicine and Immunology, Heidelberg University, Medical Faculty Mannheim, German Red Cross Blood Service Baden-Württemberg – Hessen, Mannheim Germany
,
Christine Mannhalter
4
Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria
,
Peter Bugert
1
Institute of Transfusion Medicine and Immunology, Heidelberg University, Medical Faculty Mannheim, German Red Cross Blood Service Baden-Württemberg – Hessen, Mannheim Germany
,
Hermann Eichler
2
Institute of Clinical Hemostaseology and Transfusion Medicine, Saarland University and Saarland University Medical Center, 66421 Homburg, Germany
› Author Affiliations
References
1
Harrison P.
Platelet function analysis. Blood Rev 2005; 19: 111-123
2
Haubelt H,
Anders C,
Hellstern P.
Can platelet function tests predict the clinical efficacy of aspirin?. Semin Thromb Hemost 2005; 31: 404-410
3
Fries D,
Streif W.
Point-of-care testing in critically ill patients. Semin Thromb Hemost 2015; 41: 75-83
4
Toth O,
Calatzis A,
Penz S.
, et al. Multiple electrode aggregometry: a new device to measure platelet aggregation in whole blood. Thromb Haemost 2006; 96: 781-788
5
Breddin HK.
Can platelet aggregometry be standardized?. Platelets 2005; 16: 151-158
6
Bellucci S,
Huisse MG,
Boval B.
, et al. Defective collagen-induced platelet activation in two patients with malignant haemopathies is related to a defect in the GPVI-coupled signalling pathway. Thromb Haemost 2005; 93: 130-138
7
Dumont B,
Lasne D,
Rothschild C.
, et al. Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. Blood 2009; 114: 1900-1903
8
Moroi M,
Jung SM,
Okuma M.
, et al. A patient with platelets deficient in glycoprotein VI that lack both collagen-induced aggregation and adhesion. J Clin Invest 1989; 84: 1440-1445
9
Gibbins JM,
Okuma M,
Farndale R.
, et al. Glycoprotein VI is the collagen receptor in platelets which underlies tyrosine phosphorylation of the Fc receptor gamma-chain. FEBS letters 1997; 413: 255-259
10
Jandrot-Perrus M,
Busfield S,
Lagrue AH.
, et al. Cloning, characterization, and functional studies of human and mouse glycoprotein VI: a platelet-specific collagen receptor from the immunoglobulin superfamily. Blood 2000; 96: 1798-1807
11
Jung SM,
Moroi M.
Platelet glycoprotein VI. Adv Exp Med Biol 2008; 640: 53-63
12
Dunkley S,
Arthur JF,
Evans S.
, et al. A familial platelet function disorder associated with abnormal signalling through the glycoprotein VI pathway. Br J Haematol 2007; 137: 569-577
13
Arthur JF,
Dunkley S,
Andrews RK.
Platelet glycoprotein VI-related clinical defects. Br J Haematol 2007; 139: 363-372
14
Hermans C,
Wittevrongel C,
Thys C.
, et al. A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. J Thromb Haemost 2009; 7: 1356-1363
15
Kojima H,
Moroi M,
Jung SM.
, et al. Characterization of a patient with glycoprotein (GP) VI deficiency possessing neither anti-GPVI autoantibody nor genetic aberration. J Thromb Haemost 2006; 4: 2433-2442
16
Nurden P,
Tandon N,
Takizawa H.
, et al. An acquired inhibitor to the GPVI platelet collagen receptor in a patient with lupus nephritis. J Thromb Haemost 2009; 7: 1541-1549
17
Jandrot-Perrus M,
Lagrue AH,
Leduc M.
, et al. Convulxin-induced platelet adhesion and aggregation: involvement of glycoproteins VI and Ia/IIa. Platelets 1998; 9: 207-211
18
Weiss HJ,
Aledort LM,
Kochwa S.
The effect of salicylates on the hemostatic properties of platelets in man. J Clin Invest 1968; 47: 2169-2180
19
Hagenstrom H,
Schlenke P,
Hennig H.
, et al. Quantification of platelet-associated IgG for differential diagnosis of patients with thrombocytopenia. Thromb Haemost 2000; 84: 779-783
20
Kiefel V,
Santoso S,
Weisheit M.
, et al. Monoclonal antibody--specific immobilization of platelet antigens (MAIPA): a new tool for the identification of platelet-reactive antibodies. Blood 1987; 70: 1722-1726
21
Alshehri OM HC,
Montague S,
Watson SK,
Frampton J,
Bender M,
Watson SP.
Homo sapiens glycoprotein VI platelet (GP6), transcript variant 2, mRNA. Blood 2015; 126: 1601-1608
22
Bugert P,
Lese A,
Meckies J.
, et al. Optimized sensitivity of allele-specific PCR for prenatal typing of human platelet alloantigen single nucleotide polymorphisms. Biotechniques 2003; 35: 170-174
23
Rolf N,
Knoefler R,
Suttorp M.
, et al. Optimized procedure for platelet RNA profiling from blood samples with limited platelet numbers. Clin Chem 2005; 51: 1078-1080
24 (ExAC) EAC. http://exac.broadinstitute.org/variant/19–55526271-G-A . accessed April 2016
25
Gresele P,
Bury L,
Falcinelli E.
Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation. Semin Thromb Hemost 2016; 42: 292-305
26
Matus V,
Valenzuela G,
Saez CG.
, et al. An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families. J Thromb Haemost 2013; 11: 1751-1759
27
Watkins NA,
O‘Connor MN,
Rankin A.
, et al. Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms. J Thromb Haemost 2006; 4: 1197-1205
28
Marjoram RJ,
Li Z,
He L.
, et al. alpha2beta1 integrin, GPVI receptor, and common FcRgamma chain on mouse platelets mediate distinct responses to collagen in models of thrombosis. PloS one 2014; 9: e114035
29
Gratacap MP,
Martin V,
Valera MC.
, et al. The new tyrosine-kinase inhibitor and anticancer drug dasatinib reversibly affects platelet activation in vitro and in vivo. Blood 2009; 114: 1884-1892
30
Watson CN,
Kerrigan SW,
Cox D.
, et al. Human platelet activation by Escherichia coli: roles for FcγRIIA and integrin αIIbβ3. Platelets 2016; 27: 535-540
31
Ungerer M,
Rosport K,
Bultmann A.
, et al. Novel antiplatelet drug revacept (Dimeric Glycoprotein VI-Fc) specifically and efficiently inhibited collagen-induced platelet aggregation without affecting general hemostasis in humans. Circulation 2011; 123: 1891-1899
