Definition:
Glanzmann's thrombasthenia is a rare blood disease characterized by a decrease of the glycoprotein llb/lla in the platelets. This results in prolonged, sometimes severe bleeding. The condition is also characterized by a complete absence of platelet aggregation.
Diagnosis:
Prenatal diagnosis may be done at 18 weeks old by means of a fetal blood sample, although this type of diagnosing may present a high risk of hemorrhage and may possible be deadly to the fetus. For fetuses that are unaffected, there is no risk involved in sampling.
Treatment:
The only cure for Glanzmann's thrombasthenia is bone marrow transplant. In cases where serious bleeding occurs, platelet transfusions may be conducted to treat the condition. In such instances however, the transfusions may result in the development of antibodies against platelets, which is why anti-platelet drugs must be avoided.
Symptoms and Signs:
The symptoms of Glanzmann's thrombasthenia vary on the severity of the condition, but typically includes increased bleeding post-operation, spontaneous bleeding within joints and mucosal tissues, easy bruising, nosebleeds, bleeding gums, and abnormal menstrual periods.
Causes:
Glanzmann's thrombasthenia is hereditary and has an autosomal recessive nature. It may also present itself as the result of an autoimmune disorder.
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