Genetics of equine bleeding disorders

Equine Vet J. 2021 Jan;53(1):30-37. doi: 10.1111/evj.13290. Epub 2020 Jun 23.

Abstract

Genetic bleeding disorders can have a profound impact on a horse's health and athletic career. As such, it is important to understand the mechanisms of these diseases and how they are diagnosed. These diseases include haemophilia A, von Willebrand disease, prekallikrein deficiency, Glanzmann's Thrombasthenia and Atypical Equine Thrombasthenia. Exercise-induced pulmonary haemorrhage also has a proposed genetic component. Genetic mutations have been identified for haemophilia A and Glanzmann's Thrombasthenia in the horse. Mutations are known for von Willebrand disease and prekallikrein deficiency in other species. In the absence of genetic tests, bleeding disorders are typically diagnosed by measuring platelet function, von Willebrand factor, and other coagulation protein levels and activities. For autosomal recessive diseases, genetic testing can prevent the breeding of two carriers.

Keywords: Glanzmann's thrombasthenia; atypical equine thrombasthenia; haemophilia A; horse; prekallikrein deficiency; von Willebrand disease.

Publication types

  • Review

MeSH terms

  • Animals
  • Blood Coagulation Disorders* / genetics
  • Blood Coagulation Disorders* / veterinary
  • Blood Coagulation Factors
  • Hemorrhage / veterinary
  • Hemostasis
  • Horse Diseases / genetics*
  • Horses
  • Thrombasthenia* / genetics
  • Thrombasthenia* / veterinary

Substances

  • Blood Coagulation Factors