TY - JOUR
T1 - Glanzmann thrombasthenia
T2 - Genetic basis and clinical correlates
AU - on behalf of the ClinGen Platelet Disorder Variant Curation Expert Panel
AU - Botero, Juliana Perez
AU - Lee, Kristy
AU - Branchford, Brian R.
AU - Bray, Paul F.
AU - Freson, Kathleen
AU - Lambert, Michele P.
AU - Luo, Minjie
AU - Mohan, Shruthi
AU - Ross, Justyne E.
AU - Bergmeier, Wolfgang
AU - Paola, Jorge Di
N1 - Publisher Copyright:
©2020 Ferrata Storti Foundation
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85083264534&partnerID=8YFLogxK
U2 - 10.3324/haematol.2018.214239
DO - 10.3324/haematol.2018.214239
M3 - Review article
C2 - 32139434
AN - SCOPUS:85083264534
SN - 0390-6078
VL - 105
SP - 888
EP - 894
JO - Haematologica
JF - Haematologica
IS - 4
ER -