Bernard–Soulier syndrome
| Bernard-Soulier syndrome | |
|---|---|
| Other names | Hemorrhagiparous thrombocytic dystrophy[1] |
| Bernard-Soulier syndrome has an autosomal recessive pattern of inheritance (rarely autosomal dominant).[2] | |
| Specialty | Hematology |
| Causes | Mutations in GP1BA, GP1BB and GP9[3] |
| Diagnostic method | Flow cytometry analysis[1] |
| Treatment | Platelet transfusion[4] |
Bernard–Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the glycoprotein Ib-IX-V complex (GPIb-IX-V), the receptor for von Willebrand factor.[5] The incidence of BSS is estimated to be less than 1 case per million persons, based on cases reported from Europe, North America, and Japan. BSS is a giant platelet disorder, meaning that it is characterized by abnormally large platelets.[6]
- ^ a b Lanza F (2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis. 1: 46. doi:10.1186/1750-1172-1-46. PMC 1660532. PMID 17109744.
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pmid18081445was invoked but never defined (see the help page). - ^ "Bernard-Soulier Syndrome: Practice Essentials, Background, Pathophysiology and Etiology". Medscape. 22 December 2023. Archived from the original on 3 June 2019. Retrieved 28 April 2024.
- ^ Mhawech, Paulette; Saleem, Abdus (2000). "Inherited Giant Platelet Disorders". American Journal of Clinical Pathology. 113 (2): 176–190. doi:10.1309/FC4H-LM5V-VCW8-DNJU. PMID 10664620.