Peer-reviewed veterinary case report
Labrador with severe hemophilia B and factor IX gene deletion
By Brooks, M B et al.·Published in Journal of the American Veterinary Medical Association·1997·College of Veterinary Medicine, United States·View original on PubMed →
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Original publication title: Complete deletion of factor IX gene and inhibition of factor IX activity in a labrador retriever with hemophilia B.
- Species:
- dog
Plain-English summary
A 4-year-old Labrador retriever was diagnosed with severe hemophilia B, a bleeding disorder caused by a complete deletion of the factor IX gene. This condition made the dog resistant to transfusions that typically provide the missing factor IX needed for blood clotting. The dog experienced significant bleeding issues, and the veterinary team conducted thorough tests to assess the dog's condition. Unfortunately, due to the genetic defect, the usual treatment options were complicated by the dog's development of inhibitors against factor IX. This case highlights the importance of genetic testing in managing hemophilia in dogs.
People also search for: Labrador hemophilia B treatment · dog bleeding disorder symptoms · factor IX deficiency in dogs
Abstract
Hemophilia B is a heritable bleeding disorder caused by mutations in the gene coding for coagulation factor IX. The defect has been identified in purebred and mixed-breed dogs. Management of affected dogs requires transfusion of canine blood products supplying active factor IX. Production of inhibitors to factor IX is a complication of transfusion therapy that has been documented as affecting human patients. Risk for producing coagulation inhibitors is greatest for patients having large factor IX gene deletions. To our knowledge, this is the first report of canine factor IX inhibitor production in dogs. The affected dog had clinically severe hemophilia B caused by complete deletion of the factor IX gene and developed resistance to transfusion. Comprehensive evaluation of hemophilic dogs, including assays of specific factor activity, concentration, and factor inhibition, enhances diagnosis and management of this bleeding disorder. Characterization of the molecular defect causing hemophilia is useful for genetic counseling and identifying individuals at highest risk for producing coagulation inhibitors.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/9394892/