Glanzmann Thrombasthenia
Description
Glanzmann thrombasthenia is a rare, inherited bleeding disorder that affects the ability of platelets to stick together and form clots. This lack of platelet aggregation can lead to prolonged bleeding, even from minor injuries. While this condition is uncommon, understanding its causes, symptoms, and management is crucial for individuals diagnosed with Glanzmann thrombasthenia and their families.
Genes Involved
Glanzmann thrombasthenia is caused by mutations in either the ITGA2B or ITGB3 genes. These genes provide instructions for making proteins that are essential for platelet aggregation. These proteins, known as integrin αIIbβ3, are found on the surface of platelets and act as receptors for fibrinogen, a protein that helps platelets stick together.
Recognizing the Signs and Symptoms
Recognizing the signs and symptoms of Glanzmann thrombasthenia is essential for prompt diagnosis and management. Key symptoms include:
- Prolonged bleeding from even minor injuries: This can include nosebleeds, gum bleeding, excessive bleeding after surgery, or heavy menstrual bleeding.
- Easy bruising: Even a slight bump or pressure can cause large bruises.
- Delayed wound healing: Wounds may take longer to stop bleeding and heal.
- Bleeding into joints: This can cause pain, swelling, and stiffness.
- Gastrointestinal bleeding: This can manifest as bloody stools or vomiting.
Causes
Glanzmann thrombasthenia is an inherited disorder, meaning it is passed down from parents to children. It is caused by mutations in genes involved in platelet aggregation. These mutations can be inherited from one or both parents. If one parent carries the mutation, there is a 50% chance their child will inherit the condition.
Inheritance/recurrence risk
Glanzmann thrombasthenia is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. If both parents carry the mutated gene, there is a 25% chance their child will inherit two copies of the mutated gene and develop the condition. There is a 50% chance their child will inherit one copy of the mutated gene and be a carrier of the condition. There is a 25% chance their child will inherit two copies of the normal gene and not be affected by the condition.
