Hemophilia A (Labrador Retriever Type)
Affected Genes: F8
Inheritance: Autosomal Recessive Inheritance
Variant(canFam6): chrX:107950602-107950603 2bp deletion TC
Breed: Labrador Retriever
General Information: Hemophilia A (Labrador Retriever Type) is an inherited bleeding disorder in dogs caused by a mutation in the F8 gene. This condition affects the blood's ability to clot properly, leading to an increased risk of excessive bleeding after injury or surgery. Dogs with one or two copies of the mutated gene may be predisposed to this condition, as it is inherited in an X-Linked Recessive manner. This means that males (who have only one X chromosome) with the mutation are affected, while females (who have two X chromosomes) must inherit two copies of the mutation to show clinical signs, although carriers may pass it on to their offspring.
Symptoms of Hemophilia A may include spontaneous bleeding, prolonged bleeding after injuries or surgeries, nosebleeds, or blood in the urine or stool. In severe cases, internal bleeding can occur, leading to life-threatening complications. Treatment focuses on managing symptoms, such as transfusions to replace missing clotting factors during bleeding episodes, but there is no cure for the condition.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected in Male: Dog Likely Affected
One Variant Detected in Female: Dog Likely a Carrier
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for the F8 gene variant can determine whether a dog is affected by or is a carrier of Hemophilia A (Labrador Retriever Type). This disorder is inherited in an X-Linked Recessive manner, so male dogs with one copy of the mutation will be affected, while female dogs require two copies to show symptoms. Female carriers, with one copy of the mutation, can pass the condition to their offspring.
Testing is crucial for responsible breeding practices, as mating a carrier female with an affected male can result in affected male puppies and carrier female puppies. Breeding programs should aim to avoid producing affected dogs by using genetic testing to identify and manage carriers within the population.
References:
Hytönen MK, Viitanen S, Hundi S, Donner J, Lohi H, Kaukonen M. A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs. Anim Genet. 2023 54(5):606-612