Macrothrombocytopenia

Definition:

Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. The clinical presentations of MTP-affected individuals vary considerably and range from no symptoms to a severe bleeding tendency. MTP-causing mutations have been reported in several genes, involved in various functions such as cell signaling, cytoskeleton organization, and gene expression. Among these, the most common is MYH9, which is responsible for MYH9-related disease. The second most common are GP1BA, GP1BB, and GP, which are responsible for Bernard-Soulier syndrome.

References:

[1]. Alan T Nurden, et al. Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. Semin Thromb Hemost. 2011 Sep;37(6):698-706. [Content Brief]

[2]. Carolina Landolt-Marticorena, et al. Inherited macrothrombocytopenias on the rise. Blood. 2014 Oct 16;124(16):2473-5. [Content Brief]

[3]. Kathleen Freson, et al. Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet. 2002 Jan 15;11(2):147-52. [Content Brief]

[4]. Quentin Kimmerlin, et al. Mutations in the most divergent α-tubulin isotype, α8-tubulin, cause defective platelet biogenesis. J Thromb Haemost. 2022 Feb;20(2):461-469. [Content Brief]

[5]. Remi Favier, et al. Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias. Br J Haematol. 2015 Sep;170(5):626-39. [Content Brief]

[6]. Shannon C Jackson, et al. The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. Blood. 2009 Apr 2;113(14):3348-51. [Content Brief]

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

[8]. Shinji Kunishima, et al. Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. Blood. 2009 Jan 8;113(2):458-61. [Content Brief]

[9]. Simon Stritt, et al. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. Blood. 2016 Jun 9;127(23):2903-14. [Content Brief]

[10]. Zhaoyue Wang, et al. Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. Am J Hematol. 2014 Mar;89(3):320-4. [Content Brief]

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