Genetics of equine bleeding disorders.
Authors: Dahlgren Anna R, Tablin Fern, Finno Carrie J
Journal: Equine veterinary journal
Summary
# Editorial Summary: Genetics of Equine Bleeding Disorders Genetic bleeding disorders present a significant clinical challenge in equine practice, potentially compromising both health and athletic performance. Dahlgren, Tablin and Finno reviewed the current state of knowledge regarding five primary inherited coagulopathies—haemophilia A, von Willebrand disease, prekallikrein deficiency, Glanzmann's Thrombasthenia and Atypical Equine Thrombasthenia—alongside emerging evidence for a genetic basis to exercise-induced pulmonary haemorrhage. Whilst causal mutations have been identified for haemophilia A and Glanzmann's Thrombasthenia in horses, mutations underlying von Willebrand disease and prekallikrein deficiency remain better characterised in other species; in the absence of breed-specific genetic tests, clinicians currently rely on functional assays measuring platelet aggregation, von Willebrand factor concentration and coagulation protein levels. The practical value of this work lies particularly in understanding inheritance patterns for autosomal recessive conditions, where genetic testing can identify carrier animals and prevent the mating of two carriers, thereby eliminating affected offspring before they are born. For practitioners involved in breeding programmes or managing at-risk bloodlines, this review underscores the importance of baseline coagulation screening and the potential role of genetic counselling in breeding decisions.
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Practical Takeaways
- •Genetic testing for autosomal recessive bleeding disorders can inform breeding decisions and prevent carrier-to-carrier matings, improving herd health.
- •Horses with unexplained bleeding episodes or poor athletic performance should be screened for genetic bleeding disorders using platelet function and coagulation assays.
- •Understanding the genetic basis of these diseases helps practitioners recognize clinical signs early and manage affected horses appropriately to prevent catastrophic bleeding events.
Key Findings
- •Genetic mutations have been identified for haemophilia A and Glanzmann's Thrombasthenia in horses, enabling potential genetic testing and carrier prevention.
- •Genetic bleeding disorders including von Willebrand disease and prekallikrein deficiency can significantly impact equine health and athletic performance.
- •In the absence of genetic tests, bleeding disorders are diagnosed through measuring platelet function, von Willebrand factor, and coagulation protein levels and activities.
- •Exercise-induced pulmonary haemorrhage has a proposed genetic component alongside other bleeding disorders in equines.