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Genetic and Rare Diseases Information Center (GARD)

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Glanzmann thrombasthenia


Other Names for this Disease
  • Deficiency of GP 2B 3A complex
  • Diacyclothrombopathia 2B 3A
  • Glanzmann thrombasthenia type A
  • GT
  • Platelet fibrinogen receptor, deficiency of
More Names
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Overview


Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms may include easy bruising, nose bleeds, bleeding from the gums, and/or heavy menstrual bleeding. Rarely, internal bleeding and blood in the urine (hematuria) can occur. Prolonged untreated or unsuccessfully treated bleeding may be life threatening. This condition is inherited in an autosomal recessive fashion and is caused by mutations in either the ITGA2B or ITGB3 genes.[1]
Last updated: 9/13/2011

References

  1. Glanzmann thrombasthenia. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/156/viewAbstract. Accessed 9/13/2011.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Glanzmann thrombasthenia. Click on the link to view a sample search on this topic.