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Hemophilia B (Lhasa Apso Type)

Hemophilia B (Lhasa Apso Type) is an inherited bleeding disorder in dogs caused by a deficiency of coagulation factor IX, essential for normal blood clotting.

Affected Genes: F9

Inheritance: X-Linked Recessive

Variant(canFam6):
chrX:95348686: 5 bp deletion GCACC and 1 bp insertion T (GCACC>T)

Breed: Lhasa Apso

General Information: Hemophilia B (Lhasa Apso Type) is a genetic bleeding disorder resulting from a deficiency in coagulation factor IX, an essential protein for normal blood clotting. Dogs with this condition are prone to bruising easily and can develop blood-filled masses (hematomas) under the skin and within muscles from mild trauma. They are also at risk of internal bleeding, which can result in bloody or dark tarry feces. Affected dogs may show signs of lameness or stiffness if bleeding occurs in the joints. Mildly affected dogs may present with easy and excessive bruising and frequent nosebleeds. There is a significant risk of prolonged bleeding after surgery or trauma, which can sometimes be severe enough to cause death. Veterinarians performing surgery on affected dogs should have access to banked blood for transfusions to manage this risk.

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 B (Lhasa Apso Type) involves screening for mutations in the F9 gene to determine carrier status. This disorder is inherited in an X-linked recessive manner, meaning female dogs with one copy of the mutation are carriers, while those with two copies develop the disease. Male dogs only need one copy of the mutated gene from their mother to be affected, making them more commonly symptomatic. Each male pup born to a carrier female has a 50% chance of inheriting the disease. Female dogs that are not carriers of the mutation do not have an increased risk of producing affected pups. Genetic testing is crucial for responsible breeding practices, ensuring that carriers are not bred to each other to prevent producing affected puppies. By avoiding breeding known carriers, breeders can eliminate this mutation from their lines and reduce the risk of affected offspring.

References:
Dodds WJ. Current Concepts of Hereditary Coagulation Disorders in Dogs. Experimentation Animale 1969 1:243.

Mauser AE, Whitlark J, Whitney KM, Lothrop CD Jr. A deletion mutation causes hemophilia B in Lhasa Apso dogs. Blood 1996 88(9):3451-3455.

Nichols TC, Dillow AM, Franck HW, Merricks EP, Raymer RA, Bellinger DA, Arruda VR, High KA. Protein replacement therapy and gene transfer in canine models of hemophilia A, hemophilia B, von willebrand disease, and factor VII deficiency. ILAR J. 2009;50(2):144-167.