Another Name: giant platelet syndrome
Disease Description: Bernard-Soulier syndrome also called giant platelet syndrome, is a rare inherited bleeding disorder associated with abnormal platelets.
Inherit Mode: -
Disease Symptom: The symptoms of Bernard-Soulier syndrome, which are typically apparent at birth and continue throughout life, may include the tendency to bleed excessively from cuts and other injuries, nosebleeds (epistaxis), and/or an unusually heavy menstrual flow in women. Some babies and children with BSS have no symptoms and the disorder does not present until adult life. People with this disease also bruise easily and the bruises tend to linger. Bleeding from very small blood vessels under the skin (subcutaneous) may cause small or widespread areas of small red or purple colored spots (purpura or petechiae).
Disease Cause: Bernard-Soulier syndrome is caused by mutations in one of three genes: GP1BA, GP1BB, or GP9
Disease Diagnose: -
Treat Method: -
Breeder Advice: -
Disease Description Source: Link
2019 |
Gentilini,F.,Turba,M.E.,Giancola,F.,Chiocchetti,R.,Bernardini,C.,Dajbychova,M.,Jagannathan,V.,Drögemüller,M.,Drögemüller,C.: :
A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome. PLoS One 14:e0220625, 2019. Pubmed reference: 31484196 . DOI: 10.1371/journal.pone.0220625 . |