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: email@example.com
Received 17 August, 2015
Revised 26 November, 2015
Accepted 5 December, 2015