Glanzmann Thrombasthenia

Glanzmann Thrombasthenia is a rare inherited bleeding disorder caused by a defect in platelet aggregation. Platelets are blood cells that help stop bleeding by sticking together at sites of blood vessel injury. In this condition, platelets are present in normal or near-normal numbers but cannot aggregate effectively because of abnormalities in the glycoprotein IIb/IIIa receptor on their surface.

The disorder is usually inherited in an autosomal recessive pattern, meaning an affected individual typically receives an altered gene from both parents. Symptoms often appear during childhood and may include frequent nosebleeds, easy bruising, bleeding from the gums, heavy menstrual bleeding, prolonged bleeding from minor cuts, and excessive bleeding after surgery or dental procedures. The severity can vary between individuals.

Diagnosis may involve a complete blood count, platelet function testing, and specialized laboratory studies to identify impaired platelet aggregation. Genetic testing can help confirm the underlying cause.

Treatment focuses on controlling and preventing bleeding. Local measures may be sufficient for minor episodes, while antifibrinolytic medicines or platelet transfusions may be required for significant bleeding or surgical procedures. In selected severe cases, recombinant factor VIIa may be considered. Careful planning with a haematologist is important for long-term management.