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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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Glanzmann thrombasthenia (GT) is caused by an abnormality in the genes which encode glycoproteins IIb/IIIa, the glycoprotein Ilb/IIIa receptor (also called the fibrinogen receptor).
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.
rFVIIa is effective for severe bleeding in Glanzmann thrombasthenia patients, especially in those with antiplatelet antibodies and/or platelet transfusion refractoriness.
Hematology-dental integrated management in Glanzmann thrombasthenia
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.
In 20% (n=12) of the patients, a bleeding disorder was detected (1 case of type 3 von Willebrand disease, 2 patients with low VWF:Ag, 1 case of probable von Willebrand disease, 3 cases of Bernard-Soulier syndrome, 2 cases of Glanzmann thrombasthenia, 2 cases of immune thrombocytopenic purpura, 1 case of congenital factor VII deficiency).
Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin [beta]1 and [beta]3 in platelet adhesion to collagen.