Rare Pediatrics News
Disease Profile
Platelet storage pool deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
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ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Platelet storage pool diseases; Storage pool platelet disease
Categories
Blood Diseases
Summary
Symptoms
- Frequent nosebleeds
- Abnormally heavy or prolonged menstruation
- Easy bruising
- Recurrent
anemia - Abnormal bleeding after surgery, dental work or childbirth
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Acute leukemia | 0002488 | |
0000006 | ||
Decreased mean platelet volume |
Small platelet size
Small platelets
Small platelets size
[ more ] |
0005537 |
Myelodysplasia | 0002863 | |
Prolonged bleeding time | 0003010 |
Cause
Platelet storage pool deficiencies can be genetic or acquired (non-genetic). The four major genetic forms include dense body deficiency, gray platelet syndrome, Factor V Quebec, and mixed alpha-granule/dense body deficiency. Platelet storage pool deficiency is also a feature of several
Causes of acquired platelet storage pool deficiencies include:[3]
Diagnosis
- Bleeding time studies
- Platelet aggregation studies
- Peripheral blood smear
Flow cytometry (detects a reduction in certain types of granules in affected platelets)
Treatment
People with a platelet storage pool deficiency should avoid antiplatelet drugs such as aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDS).[1][3]
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Platelet Disorder Support Association
8751 Brecksville Road
Suite 150
Cleveland, OH 44141
Toll-free: 87-PLATELET (1-877-528-3538)
Telephone: 440-746-9003
Fax: 844-270-1277
E-mail: [email protected]
Website: https://www.pdsa.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.
References
- 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.
- Storage Pool Platelet Disease. Online Mendelian Inheritance of Man. March 3, 2009; https://omim.org/entry/185050. Accessed 7/30/2014.
- Riley RS. Platelet Storage Pool Diseases. Virginia Commonwealth University. https://www.pathology.vcu.edu/clinical/coag/SPD.pdf. Accessed 7/30/2014.
- Sandrock K, Zieger B.. Current Strategies in Diagnosis of Inherited Storage Pool Defects. Transfus Med Hemother. 2010; 37(5):248-258.
- 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; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2614952/pdf/1757-1626-1-393.pdf. Accessed 10/15/2013.
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