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Related to Glanzmann's thrombasthenia: Bernard-Soulier syndrome, Von Willebrand disease
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Noun1.thrombasthenia - a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
References in periodicals archive ?
Exclusion criteria: Patients with diabetes, platelet adhesion defects such as von Willebrand disease, Bernard-Soulier syndrome or platelet aggregation defects such as Glanzmann's thrombasthenia, afibrinogenemia; history of an infectious disease in the last 10 days and use of at least one of following drugs in the last two weeks: acetylsalicylic acid, clopidogrel, ticlopidine, beta lactam antibiotics, corticosteroids and non-steroidal anti-inflammatory drugs.
Glanzmann's thrombasthenia is an inherited haemorrhagic disorder characterized by a severe reduction in or absence of platelet aggregation in response to multiple physiologic agonists due to qualitative or quantitative abnormalities of platelet glycoprotein IIb-IIIa.
8] Conditions that have been associated with EC include Glanzmann's thrombasthenia, eosinophilic gastroenteritis, bronchial asthma, and coeliac disease.
Glanzmann's Thrombasthenia is a hereditary platelet dysfunction due to quantitative or qualitative defect in the platelet glycoprotein [alpha]IIb/[beta]3 the major integrin complex which leads to inability of plate aggregation by attachment to fibrinogen, leading to non -formation of platelet plug, and thus excessive, apparently spontaneous bleeding.
The facility's goal is to develop and maintain standardized iPSCs lines specific to a variety of rare inherited diseases--not only DBA and JMML, but also dyskeratosis congenita, congenital dyserythropoietic anemia, thrombocytopenia absent radu (TAR), Glanzmann's thrombasthenia and Hermansky-Pudlak syndrome.
Criteria for diagnosis of Glanzmann's thrombasthenia (GT) were normal PT, aPTT, platelet count, and morphology; no curve with ADP, epinephrine, or collagen; and normal curve with ristocetin in platelet aggregation by lumiaggregometry.
Molecular Basis of Glanzmann's thrombasthenia and current strategies in treatment.