Glanzmann thrombasthenia: genetic basis and clinical correlates. Haematologica 2020 Apr;105(4):888-894
Date
03/07/2020Pubmed ID
32139434Pubmed Central ID
PMC7109743DOI
10.3324/haematol.2018.214239Scopus ID
2-s2.0-85083264534 (requires institutional sign-in at Scopus site) 55 CitationsAbstract
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 PanelAuthors
Brian Branchford MD Associate Professor in the Pediatrics department at Medical College of WisconsinJuliana 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 PlateletsHumans
Integrin beta3
Platelet Aggregation
Platelet Function Tests
Platelet Glycoprotein GPIIb-IIIa Complex
Thrombasthenia
