Thrombasthenia

Common Name(s)

Thrombasthenia

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thrombasthenia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Thrombasthenia" returned 144 free, full-text research articles on human participants. First 3 results:

[Glanzmann thrombasthenia: about 11 cases].
 

Author(s): Jean-Louis Ntumba Mukendi, Souad Benkirane, Azlarab Masrar

Journal:

 

Last Updated: 20 Nov 2015

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Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia.
 

Author(s): Loredana Bury, Emanuela Falcinelli, Davide Chiasserini, Timothy A Springer, Joseph E Italiano, Paolo Gresele

Journal: Haematologica. 2016 Jan;101(1):46-56.

 

Several patients have been reported to have variant dominant forms of Glanzmann thrombasthenia, associated with macrothrombocytopenia and caused by gain-of-function mutations of ITGB3 or ITGA2B leading to reduced surface expression and constitutive activation of integrin αIIbβ3. ...

Last Updated: 1 Jan 2016

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Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations.
 

Author(s): A Haghighi, M Borhany, A Ghazi, N Edwards, A Tabaksert, A Haghighi, N Fatima, T S Shamsi, J A Sayer

Journal: Clin. Genet.. 2016 Feb;89(2):187-92.

 

Glanzmann thrombasthenia (GT) is an inherited genetic disorder affecting platelets, which is characterized by spontaneous mucocutaneous bleeding and abnormally prolonged bleeding in response to injury or trauma. The underlying defect is failure of platelet aggregation due to qualitative ...

Last Updated: 21 Jan 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Thrombasthenia" returned 11 free, full-text review articles on human participants. First 3 results:

New Insights Into the Treatment of Glanzmann Thrombasthenia.
 

Author(s): Man-Chiu Poon, Giovanni Di Minno, Roseline d'Oiron, Rainer Zotz

Journal: Transfus Med Rev. 2016 Apr;30(2):92-9.

 

Glanzmann thrombasthenia (GT) is a rare inherited autosomal recessive bleeding disorder of platelet function caused by a quantitative or qualitative defect of platelet membrane glycoprotein IIb/IIIa (integrin αIIbβ3), a fibrinogen receptor required for platelet aggregation. Bleeds ...

Last Updated: 28 Mar 2016

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Glanzmann thrombasthenia: state of the art and future directions.
 

Author(s): Alan T Nurden, Xavier Pillois, David A Wilcox

Journal: Semin. Thromb. Hemost.. 2013 Sep;39(6):642-55.

 

Glanzmann thrombasthenia (GT) is the principal inherited disease of platelets and the most commonly encountered disorder of an integrin. GT is characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma caused by platelets that fail to aggregate when ...

Last Updated: 28 Aug 2013

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Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
 

Author(s): Alan T Nurden, Mathieu Fiore, Paquita Nurden, Xavier Pillois

Journal: Blood. 2011 Dec;118(23):5996-6005.

 

Characterized by mucocutaneous bleeding arising from a lack of platelet aggregation to physiologic stimuli, Glanzmann thrombasthenia (GT) is the archetype-inherited disorder of platelets. Transmitted by autosomal recessive inheritance, platelets in GT have quantitative or qualitative ...

Last Updated: 2 Dec 2011

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 18 Aug 2016

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BMT Abatacept for Non-Malignant Diseases
 

Status: Recruiting

Condition Summary: Hurler Syndrome; Fanconi Anemia; Glanzmann Thrombasthenia; Wiskott-Aldrich Syndrome; Chronic Granulomatous Disease; Severe Congenital Neutropenia; Leukocyte Adhesion Deficiency; Shwachman-Diamond Syndrome; Diamond-Blackfan Anemia; Dyskeratosis-congenita; Chediak-Higashi Syndrome; Severe Aplastic Anemia; Thalassemia Major; Hemophagocytic Lymphohistiocytosis; Sickle Cell Disease

 

Last Updated: 16 Aug 2016

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Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Transfusion Dependent Alpha- or Beta- Thalassemia; Diamond Blackfan Anemia; Paroxysmal Nocturnal Hemoglobinuria; Glanzmann Thrombasthenia; Severe Congenital Neutropenia; Shwachman-Diamond Syndrome; Non-Malignant Hematologic Disorders

 

Last Updated: 17 Feb 2017

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