How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults
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چکیده
منابع مشابه
Patients With Glanzmann Thrombasthenia Lacking Platelet Glycoprotein
Background—Platelets have been suggested to play a role in the early development of atherosclerosis. As one test of this hypothesis, we assessed whether patients with Glanzmann thrombasthenia who lack platelet glycoprotein IIb 3 (GPIIb/IIIa) complexes or both IIb 3 and the more ubiquitous v 3 cell membrane complexes are protected from development of atherosclerosis. Methods and Results—Seven pa...
متن کاملBernard-Soulier syndrome: an inherited platelet disorder.
Bernard-Soulier syndrome is an inherited platelet disorder, which is transmitted in an autosomal recessive manner. This syndrome is characterized by variable thrombocytopenia and large defective platelets. Bernard-Soulier syndrome often presents early with bleeding symptoms, such as epistaxis, ecchymosis, menometrorrhagia, and gingival or gastrointestinal bleeding. Diagnosis can be confirmed by...
متن کاملBernard-Soulier syndrome.
Bernard-Soulier syndrome (BSS) is a rare autosomal bleeding disorder characterized clinically by prolonged skin bleeding time, normal clot retraction and thrombocytopenia with large and morphologically abnormal platelets, and biochemically by the absence of platelet membrane glycoproteins (GP) Ib, V and IX. GP Ib and GP IX exist in the platelet membrane as a heterodimer complex which acts as th...
متن کاملBiosynthetic defect in platelet glycoprotein IX mutants associated with Bernard-Soulier syndrome.
To evaluate the biosynthetic basis for decreased glycoprotein (GP) Ib-IX expression resulting from GP IX mutations described in three siblings with Bernard-Soulier syndrome, we introduced each mutation into the cDNA for GP IX by site-directed mutagenesis (GP IX Asp21 --> Gly and GP IX Asn45 --> Ser) and examined the associations of the mutants with the two other subunits of the GP Ib-IX complex...
متن کاملPseudo - Bernard - Soulier Syndrome : Thrombocytopenia Caused by Autoantibody to Platelet Glycoprotein lb By Dana
The Bernard-Soulier syndrome is an inherited bleeding disorder that is due to a deficiency in platelet glycoprotein lb. Bernard-Soulier platelets fail to agglutinate in response to ristocetin despite normal levels of factor Vlll:von Willebrand factor. We report a patient who developed severe refractory thrombocytopenia postsurgically while receiving procainamide therapy. Thrombocytopenia was im...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2018
ISSN: 0007-1048
DOI: 10.1111/bjh.15409