Bernard-Soulier syndrome, type A2, autosomal dominant
MONDO:0007930A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.
Also known as: BSSA2, Bernard-Soulier syndrome, type A2 (dominant), Bernard-Soulier syndrome, type A2, autosomal dominant, Bernard-Soulier syndrome type A2
10 clinical trials for this condition and its sub-types.
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New blood product could cut transfusions in major surgeries
Disease control CompletedThis study tested a pathogen-reduced version of cryoprecipitate, a blood product that helps blood clot, in 208 patients undergoing liver transplant or heart surgery. The goal was to see if having this product readily available could stop bleeding early and reduce the need for oth…
Phase: PHASE4 • Sponsor: Weill Medical College of Cornell University • Aim: Disease control
Last updated Jun 27, 2026 07:58 UTC
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New imaging method could speed up diagnosis of blood clotting disorders
Diagnosis CompletedThis study tested a new diagnostic tool that uses imaging flow cytometry to examine platelets in blood samples. Researchers compared it to standard lab tests in 31 patients suspected of having platelet disorders or heparin-induced thrombocytopenia. The goal was to see if the new …
Sponsor: Centre Hospitalier Universitaire, Amiens • Aim: Diagnosis
Last updated Jun 27, 2026 13:06 UTC
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New blood test could unmask hidden bleeding disorders
Diagnosis CompletedThis study tested a new lab method to diagnose platelet function disorders in 322 people with bleeding symptoms. The method uses flow cytometry to detect signaling defects in platelets, which are often missed by standard tests. The goal was to standardize the technique across mul…
Phase: NA • Sponsor: University Hospital, Toulouse • Aim: Diagnosis
Last updated Jun 27, 2026 08:03 UTC