A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia. Issue 1 (January 2017)

• Record Type: Journal Article
• Authors: Ali, Shahnaz; Shetty, Shrimati; Ghosh, Kanjaksha
• Is Part Of: Blood coagulation and fibrinolysis. Volume 28:Issue 1(2017)
• Publication Date: 2017-01
• Subjects: Bernard Soulier syndrome -- giant platelets -- heterozygous mutation -- macrothrombocytopenia; Blood -- Coagulation -- Periodicals; Fibrinolysis -- Periodicals; Hemostasis -- Periodicals; Thrombosis -- Periodicals; Blood Coagulation -- Periodicals; Fibrinolysis -- Periodicals; Hemostasis -- Periodicals; Thrombosis -- Periodicals; 612.115
• DOI: 10.1097/MBC.0000000000000530
• Languages: English
• ISSNs: 0957-5235

Abstract

Abstract : Inherited macrothrombocytopenia is one of the subgroup of inherited thrombocytopenias with variable bleeding tendencies presenting with low platelet count and giant platelets and different gene mutations are involved in its molecular pathophysiology and affect various cell functions. Herein, we describe a family with an isolated giant platelet disorder with variable bleeding diathesis with autosomal mode of inheritance.