Genetics of equine bleeding disorders

Area of Science:

• Veterinary Genetics
• Equine Medicine
• Hematology

Background:

• Genetic bleeding disorders significantly impact horse health and athletic performance.
• Key conditions include haemophilia A, von Willebrand disease, and Glanzmann's Thrombasthenia.
• Exercise-induced pulmonary haemorrhage may also have a genetic basis.

Purpose of the Study:

• To review the mechanisms and diagnostic approaches for equine genetic bleeding disorders.
• To highlight the importance of genetic identification and testing in affected horses.
• To discuss the implications for breeding and disease prevention.

Main Methods:

• Review of current literature on equine bleeding disorders.
• Identification of known genetic mutations in horses and other species.
• Discussion of diagnostic methods including platelet function and coagulation factor analysis.

Main Results:

• Genetic mutations are identified for haemophilia A and Glanzmann's Thrombasthenia in horses.
• Genetic bases for von Willebrand disease and prekallikrein deficiency are known in other species.
• Current diagnostics rely on functional assays in the absence of widespread genetic tests.

Conclusions:

• Genetic testing is vital for diagnosing and managing equine bleeding disorders.
• Identifying carriers through genetic tests can prevent the propagation of autosomal recessive conditions.
• Understanding genetic components aids in preserving equine health and athletic potential.