Bernard-Soulier syndrome

Common Name(s)

Bernard-Soulier syndrome, Giant Platelet Syndrome

Bernard-Soulier syndrome, also known as hemorrhagiparous thrombocytic dystrophy, is a rare disorder that prevents a person from being able to stop bleeding after an injury or surgery. A portion of our blood is made up of platelets, which are cells that help blood to clot and therefore stops bleeding. While people affected by Benard-Soulier syndrome have large platelets, they do not have enough. This means that something as small as a paper cut will not stop bleeding for hours. Other symptoms of people affected with Bernard-Soulier syndrome are bleeding gums (the area around your teeth), easy bruising, and heavy menstrual periods. Talk with your doctor to find the best treatment if you or a loved one has been diagnosed with Bernard-Soulier syndrome.

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Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bernard-Soulier syndrome" 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 "Bernard-Soulier syndrome" returned 54 free, full-text research articles on human participants. First 3 results:

Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation.
 

Author(s): Jiaming Li, KeSheng Dai, Zhaoyue Wang, Lijuan Cao, Xia Bai, Changgeng Ruan

Journal:

 

Defects in filamin A (FLNA) gene could lead to low platelet counts and decreased surface expression of glycoprotein (GP) Ibα. Here, we report and investigate the FLNA genomic alteration of a case with Bernard-Soulier syndrome (BSS), a rare hereditary bleeding disorder caused by quantitative ...

Last Updated: 10 Jul 2015

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Primigravida with Bernard-Soulier Syndrome: a case report.
 

Author(s): Marina Barguil Macêdo, Janaína de Moraes Machado Brito, Plínio da Silva Macêdo, José Araújo Brito

Journal:

 

Bernard-Soulier Syndrome is a rare congenital bleeding disorder, mainly inherited in an autosomal recessive pattern. It is characterized by a genetic defect on one of the four genes encoding the subunits of the transmembrane protein complex GPIb-V-IX, physiologically expressed only ...

Last Updated: 18 May 2015

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Childhood myelodysplastic syndrome associated with an acquired Bernard-Soulier–like platelet dysfunction.
 

Author(s): Marco Frigeni, Monica Galli

Journal: Blood. 2014 Oct;124(16):2609.

 

Last Updated: 5 Dec 2014

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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 "Bernard-Soulier syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).
 

Author(s): François Lanza

Journal:

 

Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts. This syndrome is extremely rare ...

Last Updated: 23 Nov 2006

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Bernard-Soulier syndrome.
 

Author(s): J A López, R K Andrews, V Afshar-Kharghan, M C Berndt

Journal: Blood. 1998 Jun;91(12):4397-418.

 

Last Updated: 30 Jun 1998

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An acquired-pseudo Bernard Soulier syndrome occurring with autoimmune chronic active hepatitis and anti-cardiolipin antibody.
 

Author(s): I L Beales

Journal: Postgrad Med J. 1994 Apr;70(822):305-8.

 

A case of autoimmune chronic active hepatitis with unusual extrahepatic manifestations is described. The patient exhibited marked thrombocytopenia and platelet aggregation dysfunction and morphological changes suggesting an acquired Bernard Soulier-type syndrome. This has not previously ...

Last Updated: 16 Jun 1994

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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