Reduced Collagen-Induced Platelet Aggregation in Obligate Heterozygotes of a Glanzmann Thrombasthenia Variant with a β3 Mutation

Alan Nurden; Béatrice Jacquelin; Ewa Tuleja; Robert Combrié; Paquita Nurden

doi:10.1055/s-0037-1613215

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2002; 88(02): 364-365
DOI: 10.1055/s-0037-1613215

Letters to the Editor

Schattauer GmbH

Reduced Collagen-Induced Platelet Aggregation in Obligate Heterozygotes of a Glanzmann Thrombasthenia Variant with a β3 Mutation

Alan Nurden

¹UMR 5533 CNRS, Laboratoire d’Hémobiologie, Hôpital Cardiologique, Pessac, France

,

Béatrice Jacquelin

¹UMR 5533 CNRS, Laboratoire d’Hémobiologie, Hôpital Cardiologique, Pessac, France

,

Ewa Tuleja

¹UMR 5533 CNRS, Laboratoire d’Hémobiologie, Hôpital Cardiologique, Pessac, France

,

Robert Combrié

¹UMR 5533 CNRS, Laboratoire d’Hémobiologie, Hôpital Cardiologique, Pessac, France

,

Paquita Nurden

¹UMR 5533 CNRS, Laboratoire d’Hémobiologie, Hôpital Cardiologique, Pessac, France

› Author Affiliations

Abstract

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References

References
1 George JN, Caen JP, Nurden AT. Glanzmann’s thrombasthenia: the spectrum of clinical disease. Blood 1990; 75: 1383-95.
2 Nurden AT, George JN. Inherited abnormalities of the platelet membrane: Glanzmann thrombasthenia, Bernard-Soulier syndrome, and other disorders. In: Hemostasis and Thrombosis, Basic Principles and Clinical Practice. Colman RW, Hirsh J, Marder VJ, Clowes AW, George JN. eds. Philadelphia, Lippincott: Williams & Wilkins; 2000: 921-43.
3 Holtkötter O, Nieswandt B, Smyth N, Müller W, Hafner M, Schultze V, Krieg T, Eckes B. Integrin α2-deficient mice develop normally are fertile, but display partially defective platelet interaction with collagen. J Biol Chem 2002; 277: 10789-94.
4 Nieswandt B, Brakebusch C, Bergmeier W, Schulte V, Bouvard D, Mokhtari-Nejad R, Lindhout T, Heemskerk JWM, Zirngibi H, Fässler R. Glycoprotein VI but not α2β1 integrin is essential for platelet interaction with collagen. EMBO J 2001; 20: 2120-30.
5 Nurden AT, Ruan J, Pasquet J-M, Gauthier B, Combrié R, Kunicki TJ, Nurden P. A novel Leu196 to Pro substitution in the β3 subunit of the αIIbβ3 integrin in a patient with a variant form of Glanzmann thrombasthenia. Platelets 2002; 13: 101-11.
6 Shadle PJ, Ginsberg MH, Plow EF, Barondes SH. Platelet-collagen adhesion: inhibition by a monoclonal antibody that binds glycoprotein IIb. J Cell Biol 1984; 99: 2056-60.
7 Jacquelin B, Tarantino MD, Kritzik M, Rozenshteyn D, Koziol JA, Nurden AT, Kunicki TJ. Allele-dependent transcriptional regulation of the human integrin α2 gene. Blood 2001; 97: 1721-6.
8 Croft SA, Samani NJ, Teare MD, Hampton KK, Steeds RP, Channer KS, Daly ME. Novel platelet membrane glycoprotein VI dimorphism is a risk factor for myocardial infarction. Circulation 2001; 104: 1459-63.
9 Weiss EJ, Bray PF, Tayback M, Schulman SP, Kickler TS, Becker LC, Weiss JL, Gerstenblith G, Goldschmidt-Clermont P. A polymorphism of a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis. N Engl J Med 1996; 334: 1090-4.
10 Afshar-Kharghan V, Li CQ, Khoshnevis-Asi M, Lopez JA. Kozak sequence polymorphism of the glycoprotein (GP) Ibα gene is a major determinant of the plasma membrane levels of the platelet GPIb-IX-V complex. Blood 1999; 94: 186-91.
11 Kuijpers RWAM, Faber NM, Cuypers HTM, Ouwenhand WH, von dem Borne AEGK. The NH₂-terminal globular domain of human platelet glycoprotein Ibα has a methionine145/threonine145 amino acid polymorphism, which is associated with the HPA-2 (Ko) alloantigens. J Clin Invest 1992; 89: 381-4.
12 Di Paula J, Federici AB, Mannucci PM, Canciani MT, Kritzik M, Kunicki TJ, Nugent D. Low platelet α2β1 levels in type I von Willebrand disease correlate with impaired platelet function in a high shear stress system. Blood 1999; 93: 3578-82.
13 Nurden A, Combrié R, Nurden P. Detection of transfused platelets in a patient with Glanzmann thrombasthenia. Thromb Haemost 2002; 87: 543-4.