Inherited Thrombocytopenia

Common Name(s)

Inherited Thrombocytopenia

Description for this condition is not yet available.
 

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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

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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 "Inherited Thrombocytopenia" returned 13 free, full-text research articles on human participants. First 3 results:

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 Oct;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: 1 Aug 2016

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Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
 

Author(s): Patrizia Noris, Nicole Schlegel, Catherine Klersy, Paula G Heller, Elisa Civaschi, Nuria Pujol-Moix, Fabrizio Fabris, Remi Favier, Paolo Gresele, Véronique Latger-Cannard, Adam Cuker, Paquita Nurden, Andreas Greinacher, Marco Cattaneo, Erica De Candia, Alessandro Pecci, Marie-Françoise Hurtaud-Roux, Ana C Glembotsky, Eduardo Muñiz-Diaz, Maria Luigia Randi, Nathalie Trillot, Loredana Bury, Thomas Lecompte, Caterina Marconi, Anna Savoia, Carlo L Balduini, Sophie Bayart, Anne Bauters, Schéhérazade Benabdallah-Guedira, Françoise Boehlen, Jeanne-Yvonne Borg, Roberta Bottega, James Bussel, Daniela De Rocco, Emmanuel de Maistre, Michela Faleschini, Emanuela Falcinelli, Silvia Ferrari, Alina Ferster, Tiziana Fierro, Dominique Fleury, Pierre Fontana, Chloé James, Francois Lanza, Véronique Le Cam Duchez, Giuseppe Loffredo, Pamela Magini, Dominique Martin-Coignard, Fanny Menard, Sandra Mercier, Annamaria Mezzasoma, Pietro Minuz, Ilaria Nichele, Lucia D Notarangelo, Tommaso Pippucci, Gian Marco Podda, Catherine Pouymayou, Agnes Rigouzzo, Bruno Royer, Pierre Sie, Virginie Siguret, Catherine Trichet, Alessandra Tucci, Béatrice Saposnik, Dino Veneri,

Journal: Haematologica. 2014 Aug;99(8):1387-94.

 

Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on evidence because of the lack of consistent information in the ...

Last Updated: 1 Aug 2014

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Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study.
 

Author(s): Patrizia Noris, Catherine Klersy, Paolo Gresele, Fiorina Giona, Paola Giordano, Pietro Minuz, Giuseppe Loffredo, Alessandro Pecci, Federica Melazzini, Elisa Civaschi, Annamaria Mezzasoma, Monica Piedimonte, Fabrizio Semeraro, Dino Veneri, Francesco Menna, Laura Ciardelli, Carlo L Balduini,

Journal: Br. J. Haematol.. 2013 Jul;162(1):112-9.

 

The most frequent forms of inherited thrombocytopenia (IT) are characterized by platelet size abnormalities and it has been suggested that this parameter is useful for their differentiation from immune thrombocytopenia (ITP). Recently, a monocentric study identified cut-off values ...

Last Updated: 13 Jun 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 "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: 20 Aug 2016

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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: 2 Jan 2004

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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: 27 Jun 2017

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