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

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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Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).
 

Author(s): Patrizia Noris, Silverio Perrotta, Roberta Bottega, Alessandro Pecci, Federica Melazzini, Elisa Civaschi, Sabina Russo, Silvana Magrin, Giuseppe Loffredo, Veronica Di Salvo, Giovanna Russo, Maddalena Casale, Daniela De Rocco, Claudio Grignani, Marco Cattaneo, Carlo Baronci, Alfredo Dragani, Veronica Albano, Momcilo Jankovic, Saverio Scianguetta, Anna Savoia, Carlo L Balduini

Journal: Haematologica. 2012 Jan;97(1):82-8.

 

Bernard-Soulier syndrome is a very rare form of inherited thrombocytopenia that derives from mutations in GPIbα, GPIbβ, or GPIX and is typically inherited as a recessive disease. However, some years ago it was shown that the monoallelic c.515C>T transition in the GPIBA gene (Bolzano ...

Last Updated: 2 Jan 2012

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Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
 

Author(s): Patrizia Noris, Silverio Perrotta, Marco Seri, Alessandro Pecci, Chiara Gnan, Giuseppe Loffredo, Nuria Pujol-Moix, Marco Zecca, Francesca Scognamiglio, Daniela De Rocco, Francesca Punzo, Federica Melazzini, Saverio Scianguetta, Maddalena Casale, Caterina Marconi, Tommaso Pippucci, Giovanni Amendola, Lucia D Notarangelo, Catherine Klersy, Elisa Civaschi, Carlo L Balduini, Anna Savoia

Journal: Blood. 2011 Jun;117(24):6673-80.

 

Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known. However, we recently identified mutations in the 5'-untranslated region of the ANKRD26 gene in 9 THC2 families. Here we report on ...

Last Updated: 17 Jun 2011

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

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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cancer in Inherited Bone Marrow Failure Syndromes
 

Status: Recruiting

Condition Summary: Fanconi's Anemia; Anemia, Diamond Blackfan; Dyskeratosis Congenital; Thrombocytopenia; Neutropenia

 

Last Updated: 11 Nov 2014

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Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Thalassemia; Anemia; Granuloma; Wiskott-Aldrich Syndrome; Chediak Higashi Syndrome; Osteopetrosis; Neutropenia; Thrombocytopenia; Hurler Disease; Niemann-Pick Disease; Fucosidosis

 

Last Updated: 22 Jun 2011

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Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients
 

Status: Recruiting

Condition Summary: Wiskott-Aldrich Syndrome; Thrombocytopenia; Bleeding

 

Last Updated: 20 Nov 2012

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