What causes Bernard-Soulier syndrome?
Bernard-Soulier syndrome is caused by mutations in one of three genes: GP1BA, GP1BB, or GP9. The proteins produced from these genes are pieces (subunits) of a protein complex called glycoprotein (GP)Ib-IX-V. This complex is found on the surface of platelets and plays an important role in blood clotting .
What is the defect in Bernard-Soulier syndrome?
General Discussion. Bernard-Soulier syndrome (BSS) is a rare inherited disorder of blood clotting (coagulation) characterized by unusually large platelets, low platelet count (thrombocytopenia) and prolonged bleeding time (difficulty in clotting). Affected individuals tend to bleed excessively and bruise easily.
What test would be useful in differentiating von Willebrand’s disease from Bernard-Soulier syndrome?
Low to absent response to ristocetin is a reliable indicator for the diagnosis of BSS (rules out vWD). Flow cytometry is used to confirm the diagnosis.
What is Glanzmann Thrombasthenia?
Glanzmann thrombasthenia (GT) is a rare inherited blood clotting (coagulation) disorder characterized by the impaired function of specialized cells (platelets) that are essential for proper blood clotting. Symptoms of this disorder usually include abnormal bleeding, which may be severe.
Why are there giant platelets in Bernard-Soulier?
The large platelets and low platelet count in BSS are seemingly due to the absence of GPIbα and the filamin A binding site that links the GPIb-IX-V complex to the platelet membrane skeleton.
How do you treat Bernard-Soulier?
There is no specific treatment for Bernard-Soulier syndrome. Patients should avoid any drugs which may interfere with clot formation, such as aspirin, ibuprofen, and naproxen. Severe bleeding episodes may require platelet and blood transfusions.
Why are Bernard-Soulier platelets low?
Why are platelets enlarged in Bernard-Soulier?
What does Thrombasthenia mean?
The term thrombasthenia means weak platelets. Glanzmann thrombasthenia (GT) is one of several inherited disorders of platelet function, which also include Bernard-Soulier syndrome, as well as deficiencies of platelet adhesion, aggregation, and secretion.
How many people in the world have Glanzmann’s Thrombasthenia?
Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain groups, including those of Romani ethnicity, particularly people within the French Manouche community.
What is the significance of giant platelets?
It is important for platelets to be able to stick to injured blood vessel walls. However, giant platelets are too big to stick properly. This means that clotting cannot happen properly. Therefore, people with giant platelet disorders tend to bleed excessively when injured.