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 111 free, full-text research articles on human participants. First 3 results:

αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.
 

Author(s): Lorena Buitrago, Augusto Rendon, Yupu Liang, Ilenia Simeoni, Ana Negri, , Marta Filizola, Willem H Ouwehand, Barry S Coller

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2015 Apr;112(15):E1898-907.

 

Next-generation sequencing is transforming our understanding of human genetic variation but assessing the functional impact of novel variants presents challenges. We analyzed missense variants in the integrin αIIbβ3 receptor subunit genes ITGA2B and ITGB3 identified by whole-exome ...

Last Updated: 15 Apr 2015

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Acquired thrombasthenia due to inhibitory effect of glycoprotein IIbIIIa autoantibodies.
 

Author(s): Dorit Blickstein, Rima Dardik, Esther Rosenthal, Judith Lahav, Yair Molad, Aida Inbal

Journal: Isr. Med. Assoc. J.. 2014 May;16(5):307-10.

 

A 75 year old patient presenting with mucocutaneous bleeding was diagnosed with acquired thrombasthenia. The diagnosis was based on lack of platelet aggregation with adenosine diphosphate (ADP), arachidonic acid and collagen, and normal aggregation induced by ristocetin.

Last Updated: 1 Jul 2014

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Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia.
 

Author(s): Giovanna D'Andrea, Michele Schiavulli, Claudia Dimatteo, Rosa Santacroce, Egidio Guerra, Vittoria A C Longo, Elvira Grandone, Maurizio Margaglione

Journal: Blood. 2013 Dec;122(26):4289-91.

 

Last Updated: 20 Dec 2013

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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 10 free, full-text review articles on human participants. First 3 results:

Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome.
 

Author(s): Reyhan Diz-Küçükkaya

Journal: Hematology Am Soc Hematol Educ Program. 2013 ;2013():268-75.

 

Inherited platelet disorders (IPDs) are a heterogeneous group of diseases affecting platelet production, morphology, and function. The degree of thrombocytopenia and functional abnormality of platelets determines the clinical manifestations. Although severe deficiencies may cause ...

Last Updated: 9 Dec 2013

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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.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Abatacept Reduced Intensity 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; Hemophagocytic Lymphohistiocytosis

 

Last Updated: 7 Apr 2015

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Last Updated: 10 Aug 2015

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