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Diseases

Genetic and Rare Diseases Information Center (GARD)

Glanzmann thrombasthenia


Other Names for this Disease
  • Thrombasthenia of Glanzmann and Naegeli
  • GT
  • Platelet fibrinogen receptor, deficiency of
  • Platelet glycoprotein 2B 3A deficiency
  • Deficiency of GP 2B 3A complex
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

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

  • Genetics Home Reference (GHR) contains information on Glanzmann thrombasthenia. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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. 
  • 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.
Other Names for this Disease
  • Thrombasthenia of Glanzmann and Naegeli
  • GT
  • Platelet fibrinogen receptor, deficiency of
  • Platelet glycoprotein 2B 3A deficiency
  • Deficiency of GP 2B 3A complex
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.