Glanzmann thrombasthenia: genetic basis and clinical correlates
| Autor: | Shruthi Mohan, Wolfgang Bergmeier, Kristy Lee, Brian R. Branchford, Minjie Luo, Justyne Ross, Paul F. Bray, Juliana Perez Botero, Kathleen Freson, Michele P. Lambert, Jorge Di Paola |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Blood Platelets
Platelets Platelet Aggregation Platelet Function Tests Abnormal platelet aggregation Disorders of Platelet Function Integrin Platelet Glycoprotein GPIIb-IIIa Complex Review Article Platelet membrane glycoprotein Fibrinogen Bioinformatics law.invention 03 medical and health sciences 0302 clinical medicine law Antifibrinolytic agent medicine Humans Platelet Laboratory Hematology biology Cytogenetics and Molecular Genetics business.industry Integrin beta3 Hematology Recombinant DNA biology.protein business 030215 immunology medicine.drug Thrombasthenia |
| Zdroj: | Haematologica |
| Popis: | Glanzmann thrombasthenia (GT) is an autosomal recessive disorder of platelet aggregation caused by quantitative or qualitative defects in integrins αIIb and β3. These integrins are encoded by the ITGA2B and ITGB3 genes and form platelet glycoprotein (GP)IIb/IIIa, which acts as the principal platelet receptor for fibrinogen. Although there is variability in the clinical phenotype, most patients present with severe mucocutaneous bleeding at an early age. A classic pattern of abnormal platelet aggregation, platelet glycoprotein expression and molecular studies confirm the diagnosis. Management of bleeding is based on a combination of hemostatic agents including recombinant activated factor VII with or without platelet transfusions and antifibrinolytic agents. Refractory bleeding and platelet alloimmunization are common complications. In addition, pregnant patients pose unique management challenges. This review highlights clinical and molecular aspects in the approach to patients with GT, with particular emphasis on the significance of multidisciplinary care. ispartof: HAEMATOLOGICA vol:105 issue:4 pages:888-894 ispartof: location:Italy status: published |
| Databáze: | OpenAIRE |
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