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Glanzmann thrombasthenia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Glanzmann thrombasthenia

Glanzmann thrombasthenia is a rare bleeding disorder caused by a deficiency in platelet function, leading to prolonged or spontaneous bleeding from birth.

Overview

This disorder prevents platelets from clumping together effectively to form blood clots. Individuals with this condition experience easy bruising, frequent nosebleeds, and prolonged bleeding after injury or surgery. Women may experience heavy menstrual bleeding and increased risks during pregnancy and childbirth.

Symptoms

  • Easy bruising
  • Frequent nosebleeds (epistaxis)
  • Bleeding from the gums
  • Red or purple spots on the skin (petechiae)
  • Swelling caused by bleeding within tissues (hematoma)
  • Prolonged bleeding after injury, trauma, or surgery
  • Occasional bleeding in the gastrointestinal tract

Causes

Glanzmann thrombasthenia is caused by mutations in the ITGA2B or ITGB3 genes. These genes provide instructions for the subunits of the integrin alphaIIb/beta3 receptor protein, which is found on the surface of platelets. This protein is essential for allowing platelets to bind together during the clotting process. Mutations result in a shortage or dysfunction of this protein, preventing proper clot formation.

Inheritance

This condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell must have mutations for the disorder to occur. Parents of an affected individual typically carry one copy of the mutated gene but do not show signs or symptoms of the condition.

Frequently Asked Questions

The diagnosis is confirmed by a combination of platelet function tests and genetic analysis. Platelet aggregation studies show a lack of aggregation in response to ADP, collagen, and thrombin receptor activating peptide, while ristocetin aggregation is normal. Flow cytometry can demonstrate reduced or absent surface expression of the GPIIb/IIIa complex (integrin αIIbβ3). Finally, DNA sequencing of the ITGA2B and ITGB3 genes identifies pathogenic mutations that explain the functional defect.
cute bleeding is managed with platelet transfusions, which provide functional GPIIb/IIIa receptors. Antifibrinolytic agents such as tranexamic acid or ε‑aminocaproic acid help stabilize clots. Desmopressin is usually ineffective because the defect is in platelet aggregation, not von Willebrand factor. For elective surgery, a multidisciplinary plan that includes pre‑operative platelet transfusion, antifibrinolytics, and close monitoring of bleeding is essential.
void non‑steroidal anti‑inflammatory drugs (NSAIDs) and aspirin, which inhibit platelet function. Use protective gear during contact sports, keep dental hygiene optimal to prevent gum bleeding, and inform healthcare providers of the condition before any invasive procedures. Regular dental check‑ups and avoiding sharp instruments can also help minimize spontaneous bleeding events.===
Women with the disorder are at increased risk of heavy menstrual bleeding, postpartum hemorrhage, and bleeding during vaginal or cesarean delivery. A pre‑delivery plan should involve a hematologist, obstetrician, and anesthesiologist. Platelet transfusions and antifibrinolytics are typically administered at the time of delivery, and a blood bank should be prepared for rapid platelet availability. Early postpartum monitoring for bleeding is critical.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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