Glanzmannthrombaszténiához

Glanzmann thrombasthenia is a rare inherited bleeding disorder that affects the function of platelets. Platelets are small blood cells that normally help to stop bleeding by clumping together. In Glanzmann thrombasthenia, platelets have a defect in a protein complex called glycoprotein IIb/IIIa, which is crucial for platelet aggregation. This defect prevents platelets from effectively binding to fibrinogen, a protein in the blood that forms a mesh to hold clots together. As a result, individuals with Glanzmann thrombasthenia experience prolonged and excessive bleeding after injury or surgery.

The condition is inherited in an autosomal recessive pattern, meaning a person must inherit two copies of the altered gene, one from each parent, to have the disorder. Symptoms can vary in severity but often include easy bruising, nosebleeds, bleeding gums, heavy menstrual periods in women, and prolonged bleeding after cuts or dental work. In more severe cases, internal bleeding can occur. Diagnosis is typically made through blood tests that assess platelet count, bleeding time, and platelet aggregation studies.

There is no cure for Glanzmann thrombasthenia, but treatment focuses on managing bleeding episodes. This can involve transfusions of platelets from donors, although this can lead to the development of antibodies against the transfused platelets, making future transfusions less effective. Medications like tranexamic acid can help to reduce bleeding. Genetic counseling is important for affected individuals and their families.