Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency
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چکیده
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Quantitative Immunophemotyping of Platelet Surface Glycoproteins among Iranian Patients with Bernard-Soulier Syndrome
Background: Bernard-Soulier syndrome is a rare inherited bleeding disease caused by quantitative or qualitative defect of GPIb/IX/V, a platelet complex that binds the Von Willebrand factor. The expression of GPIb-IX-V complex can be evaluated by flow cytometry and confirmed by the absence of ristocetin-induced platelet aggregation in platelet-rich plasma. The main aim of the present study was t...
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Background: Bernard-Soulier syndrome (BSS) is a rare, autosomal recessive platelet function disorder which is commonly mistaken for idiopathic thrombocytopenic purpura (ITP).The report includes seven cases of BSS that have been diagnosed and treated as ITP for a long time. Methods: Between 2006 and 2016, data of seven BSS patients who have long been diagnosed and treated as ITP were collected ...
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2000. 5. Pham A, Wang J. Bernard-Soulier syndrome: an inherited platelet disorder. Arch Pathol Lab Med 2007;131:1834-6. 6. Young G, Luban N, White JG. Giant platelet disorders in African-American children misdiagnosed as idiopathic thrombocytopenic purpura. J Pediatr Hematol Oncol 1999;21:231-6. 7. Sugi T, Makino T. Factor XII, kininogen and plasma prekallikrein in abnormal pregnancies. Curr Dr...
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BACKGROUND Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann's thrombasthenia (GT) and Bernard-Soulier syndrome. Patients with primary bleeding disorders from all the major provincial capitals of Pakistan were screened f...
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Background & Aim: Bernard-Soulier syndrome (B.S.S) is a rare hereditary bleeding disorder due to molecular defects of platelet GPIb–IX–V. The GPIb-IX-V complex is composed of four chains of GPIbα, GPIbβ, GPIX and GPV. The largest chain of this complex is GPIbα and is responsible for binding to ligand and most of identified mutations belong to this glycoprotein. The aim of this study was...
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