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Glanzmann thrombasthenia: genetic basis and clinical correlates. Haematologica 2020 Apr;105(4):888-894



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Pubmed Central ID




Scopus ID

2-s2.0-85083264534 (requires institutional sign-in at Scopus site)   55 Citations


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.

Author List

Botero JP, Lee K, Branchford BR, Bray PF, Freson K, Lambert MP, Luo M, Mohan S, Ross JE, Bergmeier W, Di Paola J, ClinGen Platelet Disorder Variant Curation Expert Panel


Brian Branchford MD Associate Professor in the Pediatrics department at Medical College of Wisconsin
Juliana Perez Botero MD Assistant Professor in the Medicine department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Blood Platelets
Integrin beta3
Platelet Aggregation
Platelet Function Tests
Platelet Glycoprotein GPIIb-IIIa Complex