Glanzmann thrombasthenia
Glanzmann Thrombasthenia (pronunciation: glanz-man throm-bas-then-ia) is a rare, inherited bleeding disorder characterized by the inability of blood platelets to aggregate and form a blood clot in response to injury.
Etymology
The condition is named after the Swiss pediatrician, Eduard Glanzmann, who first described it in 1918. The term "thrombasthenia" is derived from the Greek words "thrombos" meaning clot, and "astheneia" meaning weakness.
Symptoms
The primary symptom of Glanzmann Thrombasthenia is an increased tendency to bleed. This can manifest as nosebleeds, gum bleeding, bruising, menorrhagia (heavy menstrual bleeding), and prolonged bleeding after surgery or dental procedures. In severe cases, spontaneous bleeding can occur in the gastrointestinal tract or urinary tract.
Causes
Glanzmann Thrombasthenia is caused by a mutation in the ITGA2B or ITGB3 gene. These genes provide instructions for making proteins that are part of platelets. The mutation prevents these proteins from working properly, which disrupts the ability of platelets to stick together and form a clot.
Diagnosis
Diagnosis of Glanzmann Thrombasthenia involves blood tests to measure the ability of the platelets to clot. Genetic testing can also be done to identify mutations in the ITGA2B or ITGB3 genes.
Treatment
Treatment for Glanzmann Thrombasthenia is aimed at controlling bleeding. This can involve platelet transfusion, administration of antifibrinolytic drugs, and use of recombinant factor VIIa.
See Also
External links
- Medical encyclopedia article on Glanzmann thrombasthenia
- Wikipedia's article - Glanzmann thrombasthenia
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