دانلود رایگان مقاله شرایط مضرات بنگال ماکرو ترومبو سیتو پنیا

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].

4. Discussion

Platelet related bleeding disorders are either inherited or acquired, giving rise to bleeding manifestations of varying severity. Taking medical/drug history is the first step of diagnosis of any bleeding disorder and the best screening method for any platelet related disorder. Family history and age of onset of bleeding play a major role in differentiating inherited from acquired platelet function disorders, consanguineous partnerships increases the likelihood of a recessive platelet disorder. Screening coagulation tests; Prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT) was normal ruling out factor related deficiency. Platelet aggregation study with different agonists and receptor study of GPIb/IX/V and GPIb/IIIa was normal which helped in differential diagnosis with Bernard Soulier Syndrome (BSS), Glanzmann Trombasthenia (GT) and von Willibrand Disease (vWD) (Table 1).