Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Platelet storage pool deficiency


Other Names for this Disease

  • Platelet storage pool diseases
  • Storage pool platelet disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1]

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.[2]  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.[3] 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.[4] 

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.[3] The inheritance pattern of TAR syndrome is unclear. [5]
Last updated: 10/15/2013

References

  1. Storage Pool Platelet Disease. Online Mendelian Inheritance of Man. March 3, 2009; http://www.ncbi.nlm.nih.gov/omim/185050. Accessed 10/15/2013.
  2. Jewell, M., MaGann, EF, Barr, A., and Baker, R. Management of platelet storage pool deficiency during pregnancy. Australian and New Zealand Journal of Obstetrics and Gynecology. 2003; 43(2):171-172.
  3. Riley RS. Platelet Storage Pool Diseases. Virginia Commonwealth University. http://www.pathology.vcu.edu/clinical/coag/SPD.pdf. Accessed 10/15/2013.
  4. Rahman S, Myers J, Gilham J, Fitzmaurice R, Johnston T. Post partum haemorrhage secondary to uterine atony, complicated by platelet storage pool disease and partial placenta diffusa: a case report. Cases Journal. December 13, 2008; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2614952/pdf/1757-1626-1-393.pdf. Accessed 10/15/2013.
  5. Thrombocytopenia-absent radius syndrome. Genetics Home Reference. March 2009; http://ghr.nlm.nih.gov/condition=thrombocytopeniaabsentradiussyndrome. Accessed 10/15/2013.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Platelet storage pool deficiency have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In Depth Information

  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Platelet storage pool deficiency. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Platelet storage pool diseases
  • Storage pool platelet disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.