Bleeding disorder platelet-type

Definition:

Bleeding disorder platelet-type is a condition characterized by mild to moderate mucocutaneous bleeding. Patients are with platelet dysfunction but normal platelet number. It has been reported that these disorders are associated with mutations in key platelet activation receptors, namely those for ADP, collagen and thromboxane A2.

References:

[1]. A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome. N Engl J Med. 2015 Aug 20;373(8):782. [Content Brief]

[2]. C Hermans, et al. A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. J Thromb Haemost. 2009 Aug;7(8):1356-63. [Content Brief]

[3]. Cedric Ghevaert, et al. A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. Blood. 2008 Apr 1;111(7):3407-14. [Content Brief]

[4]. Eliane Berrou, et al. A mutation of the human EPHB2 gene leads to a major platelet functional defect. Blood. 2018 Nov 8;132(19):2067-2077. [Content Brief]

[5]. Marco Cattaneo, et al. Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1978-83. [Content Brief]

[6]. Matthias Canault, et al. Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. J Exp Med. 2014 Jun 30;211(7):1349-62. [Content Brief]

[7]. Paul Saultier, et al. Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features. Haematologica. 2017 Jun;102(6):1006-1016. [Content Brief]

[8]. Sarah J Fletcher, et al. SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. J Clin Invest. 2015 Sep;125(9):3600-5. [Content Brief]

[9]. Shinji Kunishima, et al. ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet. 2013 Mar 7;92(3):431-8. [Content Brief]

[10]. Shinji Kunishima, et al. Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. Blood. 2011 May 19;117(20):5479-84. [Content Brief]

[11]. Thomas J Kunicki, et al. Platelet adhesion to decorin but not collagen I correlates with the integrin α2 dimorphism E534K, the basis of the human platelet alloantigen (HPA)-5 system. Haematologica. 2012 May;97(5):692-5. [Content Brief]

[12]. Vladimir T Manchev, et al. A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene. Blood. 2014 Oct 16;124(16):2554-63. [Content Brief]

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