Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia
نویسندگان
چکیده
منابع مشابه
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
Characterized by mucocutaneous bleeding arising from a lack of platelet aggregation to physiologic stimuli, Glanzmann thrombasthenia (GT) is the archetype-inherited disorder of platelets. Transmitted by autosomal recessive inheritance, platelets in GT have quantitative or qualitative deficiencies of the fibrinogen receptor, αIIbβ3, an integrin coded by the ITGA2B and ITGB3 genes. Despite advanc...
متن کاملPatients 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 کاملGlanzmann thrombasthenia
Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. The molecular basis is linked to quantitative and/or qualitative abnormalities of alphaIIb beta3 integrin. This receptor mediates the binding of adhesive proteins that attach aggregating platelets and ensure thrombus formation at si...
متن کاملGlanzmann thrombasthenia in a neonate.
Glanzmann thrombasthenia is a qualitative platelet function disorder manifested by skin bleeds, epistaxis, gingival bleeding, gastrointestinal hemorrhage, hematuria, hemarthrosis, intracranial hemorrhage and visceral hematomas. We report a six day old newborn presenting with hematuria following suprapubic aspiration, who was diagnosed as Glanzmann thrombasthenia. We believe it to be the younges...
متن کاملExcessive gingival bleeding in two patients with Glanzmann thrombasthenia.
BACKGROUND Glanzmann thrombasthenia (GT) is an exceedingly rare but well-defined inherited disorder of platelet function caused by a defect in the glycoprotein IIb/IIIa complex. The association of GT with consanguinity has been noted, especially in geographic regions in which intermarriage is common. In most patients, GT is diagnosed during early infancy or before the age of 5 years. Common man...
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ژورنال
عنوان ژورنال: Journal of Thrombosis and Haemostasis
سال: 2009
ISSN: 1538-7933,1538-7836
DOI: 10.1111/j.1538-7836.2009.03579.x