Inherited Thrombocytopenia

Common Name(s)

Inherited Thrombocytopenia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Inherited Thrombocytopenia" returned 15 free, full-text research articles on human participants. First 3 results:

Inherited thrombocytopenia and Occam's razor.
 

Author(s): Jeffrey M Lipton

Journal: Blood. 2017 08;130(7):839-840.

 

Last Updated: 31 Dec 1969

Go To URL
Mutations of RUNX1 in families with inherited thrombocytopenia.
 

Author(s): Daniela De Rocco, Federica Melazzini, Caterina Marconi, Alessandro Pecci, Roberta Bottega, Chiara Gnan, Flavia Palombo, Paola Giordano, Maria Susanna Coccioli, Ana C Glembotsky, Paula G Heller, Marco Seri, Anna Savoia, Patrizia Noris

Journal: Am. J. Hematol.. 2017 06;92(6):E86-E88.

 

Last Updated: 31 Dec 1969

Go To URL
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
 

Author(s): Ben Johnson, Gillian C Lowe, Jane Futterer, Marie Lordkipanidzé, David MacDonald, Michael A Simpson, Isabel Sanchez-Guiú, Sian Drake, Danai Bem, Vincenzo Leo, Sarah J Fletcher, Ban Dawood, José Rivera, David Allsup, Tina Biss, Paula Hb Bolton-Maggs, Peter Collins, Nicola Curry, Charlotte Grimley, Beki James, Mike Makris, Jayashree Motwani, Sue Pavord, Katherine Talks, Jecko Thachil, Jonathan Wilde, Mike Williams, Paul Harrison, Paul Gissen, Stuart Mundell, Andrew Mumford, Martina E Daly, Steve P Watson, Neil V Morgan,

Journal: Haematologica. 2016 10;101(10):1170-1179.

 

Inherited thrombocytopenias are a heterogeneous group of disorders characterized by abnormally low platelet counts which can be associated with abnormal bleeding. Next-generation sequencing has previously been employed in these disorders for the confirmation of suspected genetic abnormalities, ...

Last Updated: 31 Dec 1969

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Inherited Thrombocytopenia" returned 2 free, full-text review articles on human participants. First 3 results:

Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.
 

Author(s): Ben Johnson, Sarah J Fletcher, Neil V Morgan

Journal: Platelets. 2016 Sep;27(6):519-25.

 

The study of patients with inherited bleeding problems is a powerful approach in determining the function and regulation of important proteins in human platelets and their precursor, the megakaryocyte. The normal range of platelet counts in the bloodstream ranges from 150 000 to 400 ...

Last Updated: 31 Dec 1969

Go To URL
Inherited thrombocytopenia: when a low platelet count does not mean ITP.
 

Author(s): Jonathan G Drachman

Journal: Blood. 2004 Jan;103(2):390-8.

 

Congenital thrombocytopenias, once considered rare and obscure conditions, are today recognized with increasing frequency, especially due to the measurement of platelet number as part of routine blood testing. The clinical spectrum of congenital thrombocytopenia ranges from severe ...

Last Updated: 31 Dec 1969

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)
 

Status: Recruiting

Condition Summary: Thrombotic Thrombocytopenic Purpura; Congenital Thrombotic Thrombocytopenic Purpura; Familial Thrombotic Thrombocytopenic Purpura; Thrombotic Thrombocytopenic Purpura, Congenital; Upshaw-Schulman Syndrome

 

Last Updated: 12 Feb 2018

Go to URL