Glanzmann thrombasthenia: genetic basis and clinical correlates.

Haematologica
Juliana Perez BoteroClinGen Platelet Disorder Variant Curation Expert Panel

Abstract

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.

Citations

Aug 17, 2020·Pediatric Blood & Cancer·Laurent SattlerDominique Desprez
Nov 17, 2020·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Qian XuXian Zhang
Mar 7, 2021·Journal of Clinical Medicine·Alessandro AliottaLorenzo Alberio
Mar 13, 2021·Blood Cells, Molecules & Diseases·Nurit RosenbergGili Kenet
May 1, 2021·International Journal of Molecular Sciences·Verónica Palma-BarquerosJosé Rivera
Jul 17, 2021·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Ritika SharmaReena Das
Aug 5, 2021·Journal of Thrombosis and Haemostasis : JTH·Juliana Perez Botero, Jorge Di Paola

❮ Previous
Next ❯

Methods Mentioned

BETA
imaging techniques
nucleotide exchange
light microscopy
flow cytometry

Software Mentioned

ClinVar
ClinGen

Related Concepts

Related Feeds

Adhesion Molecules in Health and Disease

Cell adhesion molecules are a subset of cell adhesion proteins located on the cell surface involved in binding with other cells or with the extracellular matrix in the process called cell adhesion. In essence, cell adhesion molecules help cells stick to each other and to their surroundings. Cell adhesion is a crucial component in maintaining tissue structure and function. Discover the latest research on adhesion molecule and their role in health and disease here.

Related Papers

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
R Chabchoub Ben AbdallahA Mahfoudh
Journal of Pediatric Hematology/oncology
Leonard A Valentino
Clinica Chimica Acta; International Journal of Clinical Chemistry
Massimo FranchiniGiuseppe Lippi
Orphanet Journal of Rare Diseases
Alan T Nurden
[Rinshō ketsueki] The Japanese journal of clinical hematology
Sayaka SugiharaAkiro Kimura
© 2021 Meta ULC. All rights reserved