Glanzmann thrombasthenia is a very rare hereditary platelet function disorder that affects the way that platelets work in the body.
Platelets are cells in the blood that help with blood clotting. When a blood vessel is injured, platelets stick or clump together to form a āplatelet plugā at the site of the injury and to help stop the bleeding.
In Glanzmann thrombasthenia there is a deficiency of a protein on the surface of the platelet. As a result, platelets do not form a strong plug at the site of an injury, leading to a tendency to bleed for longer than normal or bruise easily.
Symptoms vary from one person to another and severity can range from mild to severe:
- Abnormal bleeding with surgery, circumcision, or dental work.
- Children experience bruising, nose bleeds and bleeding in the mouth and gums.
- Women may experience heavy or prolonged menstrual bleeding (menorrhagia), bleeding during ovulation and abnormal bleeding during or after childbirth.
- On rare occasions gastrointestinal bleeding. 1,2
The Haemophilia Treatment Centre will develop a treatment plan to manage bleeding with the person that is specific to their situation.
Glanzmann thrombasthenia is inherited in an autosomal recessive pattern. This means it occurs in the unusual situation where both parents carry the gene change causing the disorder, usually without symptoms, and each pass the gene change onto their child, who then has the disorder. It affects both males and females.3
REFERENCES
- World Federation of Hemophilia. What are inherited platelet function disorders? WFH: Montreal, 2023.
- Canadian Hemophilia Society. Types of platelet function disorders.
- National Organization for Rare Disorders (NORD). Glanzmann thrombasthenia. 2023.
Reviewed by Dr Jane Mason, Director, Queensland Haemophilia Centre, Royal Brisbane & Women’s Hospital.