A Rare Glanzmann Thrombasthenia Pedigree of C.1067T>C Heterozygous Mutation in ITGA2B Gene
نویسندگان
چکیده
منابع مشابه
Glanzmann 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 کاملGlanzmann Thrombasthenia: A Clinicopathological Profile.
OBJECTIVE To describe the clinical presentation of patients with Glanzmann's thrombasthenia (GT) and evaluate their diagnostic, clinical, and laboratory parameters including platelet aggregometry. STUDY DESIGN Descriptive study. PLACE AND DURATION OF STUDY Department of Hematology and Blood Transfusion, The Children Hospital and Institute of Child Health, Lahore, from January 2006 to Decemb...
متن کاملGlanzmann 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 کاملGlanzmann thrombasthenia: a rare hematological disorder with oral manifestations: a case report.
AIM The aim of this report is to present a case of Glanzmann thrombasthenia (GT) with oral manifestations requiring periodontal management along with a discussion of the clinical, hematologic, and molecular level features of the disease. BACKGROUND GT is a rare hematological disorder with oral manifestations affecting platelets and clotting. It is characterized by spontaneous bleeding from mu...
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ژورنال
عنوان ژورنال: Blood
سال: 2020
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2020-141694