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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 ?
Tirofiban simulates a severe platelet aggregation defect similar to homozygous GPIIbIIIa deficiency (Glanzmann thrombasthenia).
They also serve children with other factor deficiencies such as von Willebrand disease, Glanzmann Thrombasthenia, and functional platelet disorders.
[20] reported 34 cases of inherited bleeding disorders from Eastern Province of Saudi Arabia; of these, 15 had hemophilia, one had factor VII deficiency, one had factor X deficiency, 12 had Glanzmann thrombasthenia, and five had unidentified platelet function disorders.
Pillois, "Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models," Blood, vol.
* Glanzmann thrombasthenia is a severe, autosomal recessive bleeding disorder caused by a deficiency of GPIIb/IIIa, the receptor responsible for platelet aggregation.
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.
Nurden, "Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment," Expert Review of Hematology, vol.
rFVIIa is effective for severe bleeding in Glanzmann thrombasthenia patients, especially in those with antiplatelet antibodies and/or platelet transfusion refractoriness.
Glanzmann Thrombasthenia is rare inherited autosomal recessive disorder.
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.