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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
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References in periodicals archive ?
Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder characterized by the impaired function of platelets that are essential for proper blood clotting and can lead to prolonged bleeding time.
Platelet concentrates are used in a variety of diseases, which manifests as low platelet count [10] or thrombasthenia. Viral fevers especially from dengue have become a quite common indication for platelet transfusion in India.
Platelet function disorders vary in severity, with some of the most severe including Glanzmann's thrombasthenia (GT) and Bernard-Soulier syndrome; however, other conditions which are generally milder may also occasionally produce severe bleeding symptoms.
* Characterization of platelet abnormalities, including the bleeding disorders hereditary thrombasthenia in Otterhounds, Basset Hound thrombopathia and Scott syndrome in German Shepherd Dogs.
Vesical injury, chronic vesical irritation, bladder surgery, food and drug allergies, tuberculosis and malignancies can be causal factors of EC; however, etiologic agents cannot easily be identified.[sup.4] Intravesical mitomycin, thiotepa and dimethyl sulfoxide have been reported as possible causative agents.[sup.6,7] Food allergens and parasites, such as Toxocara canis and Echinococcus, have been used to clarify the onset of EC.[sup.8] Conditions that have been associated with EC include Glanzmann's thrombasthenia, eosinophilic gastroenteritis, bronchial asthma, and coeliac disease.[sup.9] Although peripheral eosinophilia and eosinophilia were highly suggestive of an underlying allergic cause, no specific cause was identified in this study.
Sticking pork products up the patient's nose was a treatment of last resort when conventional treatments had failed, Saraiya said, and was only used for a very specific condition known as Glanzmann thrombasthenia, a rare condition in which blood does not properly clot.
Platelet function testing (PFT), (7) usually performed by techniques such as light transmission aggregometry (LTA), has traditionally been used to diagnose inherited qualitative and quantitative defects in platelet function, such as von Willebrand disease or Glanzmann thrombasthenia. With the increased use of antiplatelet agents to prevent arterial thrombosis and the interest in identifying patients at risk for thrombosis despite antiplatelet therapy, the use of PFT to monitor the response to and/or titrate antiplatelet therapy (primarily aspirin and clopidogrel) has become a hot topic.
Die 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 radii (TAR), Glanzmarm's thrombasthenia and Hermansky--Pudlak syndrome.