Platelet storage pool deficiency

Common Name(s)

Platelet storage pool deficiency

Platelet storage pool deficiencies are rare platelet abnormalities that cause a mild to moderate bleeding disorder. Platelet storage pool deficiencies consist of a number of disorders characterized by a reduction in the number and content of certain types of platelets, called dense granules and alpha granules. The dense granules in platelets serve as a "storage pool" for adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.  It is thought that the reduced release of ADP may result in the prolonged bleeding times.

Classically, the clinical features of storage pool disorders include nosebleeds (epistaxis), abnormally heavy or prolonged menstruation (menorrhagia), easy bruising, recurrent anemia, and obstetric or surgical bleeding.   Four major types of congenital platelet storage pool disease have been described: dense body deficiency, gray platelet syndrome, Factor V Quebec, and mixed alpha-granule/dense body deficiency.  The inheritance of an isolated platelet storage pool deficiency is thought to be autosomal dominant, but the penetrance of the gene vary from person to person.  

Platelet storage pool deficiencies can also be part of other inherited conditions including Hermansky-Pudlak syndrome, Chediak-Higashi syndrome  which are autosomal recessive conditions, Wiskott-Aldrich syndrome, an X-linked recessive condition, and thrombocytopenia-absent radius (TAR) syndrome. The inheritance pattern of TAR syndrome is unclear.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Platelet storage pool deficiency" for support, advocacy or research.

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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 "Platelet storage pool deficiency" returned 9 free, full-text research articles on human participants. First 3 results:

Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.
 

Author(s): Despina Contopoulos-Ioannidis, Athanasios Evangeliou, Henk ter Laak, Bert de Vries, Rolph Pfundt, Hans Scheffer, Jan Smeitink, Meropi Tzoufi, Alexandros Makis, Evangelos Marinos, Richard Hess, David Adams, Marjan Huizing, Eva Morava

Journal: Am. J. Med. Genet. A. 2008 Dec;146A(23):3100-3.

 

Last Updated: 27 Nov 2008

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Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.
 

Author(s): M Huizing, Y Anikster, D L Fitzpatrick, A B Jeong, M D'Souza, M Rausche, J R Toro, M I Kaiser-Kupfer, J G White, W A Gahl

Journal: Am. J. Hum. Genet.. 2001 Nov;69(5):1022-32.

 

Hermansky-Pudlak syndrome (HPS), consisting of oculocutaneous albinism and a bleeding diathesis due to the absence of platelet dense granules, displays extensive locus heterogeneity. HPS1 mutations cause HPS-1 disease, and ADTB3A mutations cause HPS-2 disease, which is known to involve ...

Last Updated: 8 Oct 2001

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Platelet prothrombinase activity and intracellular calcium responses in patients with storage pool deficiency, glycoprotein IIb-IIIa deficiency, or impaired platelet coagulant activity--a comparison with Scott syndrome.
 

Author(s): H J Weiss, B Lages

Journal: Blood. 1997 Mar;89(5):1599-611.

 

The procoagulant activity of platelets induced by collagen, thrombin, and collagen plus thrombin, measured as their capacity to promote the conversion of prothrombin to thrombin in the presence of factors Va and Xa, was studied in patients with alpha, alpha delta, and delta storage ...

Last Updated: 1 Apr 1997

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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 "Platelet storage pool deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
 

Status: Recruiting

Condition Summary: Albinism; Intestinal Disease; Kidney Disease; Myocardial Disease; Pulmonary Fibrosis

 

Last Updated: 14 May 2014

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Clinical and Basic Investigations Into Erdheim Chester Disease
 

Status: Recruiting

Condition Summary: Myelofibrosis; Gaucher Disease; Pulmonary Fibrosis; Hermansky-Pudlak Syndrome (HPS); Cancer

 

Last Updated: 14 Mar 2014

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Study of Chediak-Higashi Syndrome
 

Status: Recruiting

Condition Summary: Chediak Higashi Syndrome

 

Last Updated: 14 Mar 2014

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