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Delayed Postoperative Hamorrhage (DEPOH) is an inherited bleeding disorder primarily observed in Greyhounds and Scottish Deerhounds.
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Specifiche
| Razza | Basenji, Borzoi, Irish Wolfhound, Levriero inglese, Levriero italiano, Levriero Scozzese, Saluki, Whippet |
|---|---|
| Gene | |
| Cromosoma | 9 |
| Mutation | c.605C>T |
| Tipo di Ereditarietà | Autosomica dominante a penetranza incompleta |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | DEPOH |
Informazioni generali
Delayed Postoperative Hamorrhage (DEPOH) is an inherited bleeding disorder primarily observed in Greyhounds and Scottish Deerhounds. It is associated with a mutation in the Serpin Family F Member 2 (SERPINF2) gene, which affects the function of alpha-2 antiplasmin, a key inhibitor of blood clot breakdown. As a result, affected dogs initially form normal blood clots after surgery or trauma, but these clots are broken down prematurely, leading to delayed bleeding. The condition is inherited in an autosomal dominant manner with incomplete penetrance. Dogs carrying one copy of the variant have a moderately increased risk of developing clinical signs, while dogs with two copies have a higher risk.
Caratteristiche cliniche
Affected animals typically develop unexpected bleeding 1–4 days after surgery or injury, despite normal clotting at the time of the procedure. As such, signs are usually only observed following a surgical procedure or significant trauma, rather than at a specific age. Clinical signs include prolonged or recurrent bleeding from surgical sites, extensive bruising (ecchymosis), and in some cases internal bleeding. The severity can range from mild oozing to severe, life-threatening haemorrhage, which may result in weakness, collapse, or death. Routine coagulation tests are often normal, as the defect lies in clot stability rather than clot formation.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 36780177
Year published: 2023
Omia ID: 2631
Omia variant ID: