1. Introduction
Abnormal giant platelets are sometimes seen as an incidental finding in routine blood examinations, many of them are associated with acquired disorder such as idiopathic thrombocytopenic purpura (ITP) and myelodysplasia. In contrast inherited macrothrombocytopenia comprises a heterogeneous group of rare disorders, characterised by abnormal giant platelets, thrombocytopenia and bleeding tendency with variable severity; from no or mild bleeding tendency to severe bleeding diathesis and sometimes associated with syndromic features like renal failure, hearing loss and presenile cataracts. Many of these disorders share common clinical and laboratory features, making accurate diagnosis difficult and patients are often misdiagnosed and treated for idiopathic thrombocytopenic purpura (ITP). Bleeding syndromes that arise through an inherited defect of platelet production and giant platelets constitute a heterogeneous group of platelet disorders [1,2], some including the Bernard-Soulier syndrome (BSS) [3], MYH9 related macrothrombocytopenia (MYH9-RD) [4,5] and Mediterranean macrothrombocytopenias (MM) [6], sitosteroleamia/phytosteroleamia [7,8], the disease is caused by a mutation in either of the ABCG5 or ABCG8 genes which encode an ATP-binding cassette protein called Sterolin [9,10], a rare X linked GATA-1 associated macrothrombocytopenia has been associated with dyserythropoiesis and thalassemia [11] and Harris platelet syndrome (HPS) in healthy donors from West Bengal [12].
