Back

Hemophilia A (Rhodesian Ridgeback Type)

Hemophilia A (Rhodesian Ridgeback Type) is an inherited bleeding disorder in dogs caused by a deficiency of coagulation factor VIII, essential for normal blood clotting.

Affected Genes: F8

Inheritance: X-Linked Recessive

Variant(canFam6):
chrX:107948701-107948702 221 bp ins + 17 bp flanking duplication of GGTGTCTTTCCTTTTAA

Breed: Rhodesian Ridgeback

General Information: Hemophilia A (Rhodesian Ridgeback Type) is a genetic bleeding disorder resulting from a deficiency in coagulation factor VIII, an essential protein required for normal blood clotting. Affected Rhodesian Ridgebacks may present at birth with prolonged bleeding from the umbilical cord. As they age, they may bruise easily, experience frequent nosebleeds, bleed from the mouth when losing juvenile teeth, and show signs of lameness or stiffness if bleeding occurs in the joints or muscles. There is a significant risk of prolonged bleeding after surgery or trauma, which can sometimes be severe enough to be fatal. Veterinarians performing surgery on known affected dogs should have access to banked blood for transfusions to manage this risk effectively. While the severity of bleeding can vary, the condition requires careful management to ensure the health and well-being of affected dogs.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Hemophilia A (Rhodesian Ridgeback Type) involves screening for mutations in the F8 gene to determine carrier status. This disorder is inherited in an X-linked recessive manner, meaning that female dogs must inherit two copies of the mutated gene (one from each parent) to develop the disease, while male dogs only need one copy from their mother to be affected. Consequently, male dogs are more commonly symptomatic. Each male pup born to a carrier female has a 50% chance of inheriting the disease. Genetic testing is crucial for responsible breeding practices, as female carriers typically do not show symptoms. To avoid producing affected puppies and eliminate the mutation from breeding lines, it is essential not to breed two known carriers. Rhodesian Ridgebacks that are not carriers of the mutation do not have an increased risk of producing affected offspring.

References:
Kehl A, Haaland AH, Langbein-Detsch I, Mueller E. A SINE Insertion in F8 Gene Leads to Severe Form of Hemophilia A in a Family of Rhodesian Ridgebacks. Genes (Basel) 2021 12(2):134.