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A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia

Ali, Shahnaz; Shetty, Shrimati; Ghosh, Kanjaksha

Blood Coagulation & Fibrinolysis: January 2017 - Volume 28 - Issue 1 - p 94–95
doi: 10.1097/MBC.0000000000000530

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.

Department of Haemostasis and Thrombosis, National Institute of Immunohaematology, 13th Floor, KEM Hospital, Parel, Mumbai, Maharashtra, India

Correspondence to Shahnaz Ali, National Institute of Immunohaematology (ICMR), 13th Floor, KEM Hospital, Parel, Mumbai, 400 012 Maharashtra, India Tel: +91 22 24138518; fax: +91 22 24138521; e-mail:

Received 17 August, 2015

Revised 26 November, 2015

Accepted 5 December, 2015

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