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What is Hemophilia A?

Hemophilia A is a rare genetic defect that occurs in dogs and humans. Patients with this defect are prone to excessive bleeding because their bodies don’t make enough of a particular clotting factor, called Factor VIII (Factor 8).

Here’s how Factor VIII helps prevent bleeding:

What are the symptoms?

The first symptom is often excessive gum bleeding when their baby teeth fall out, but this usually resolves without treatment.

Many hemophiliac dogs bleed into their muscles and joints. This can range from mild limping to severe pain and lameness. Because this starts in growing puppies, it is often misdiagnosed as growing pains (panosteitis).

Some hemophiliac dogs are first diagnosed when they are spayed or neutered and their incisions don’t stop bleeding.

They can have “spontaneous” bleeding anywhere in the body. If it’s in the intestines it can cause GI upset and black tarry stool. If it’s in the chest it can cause trouble breathing, severe weakness, anemia from blood loss, and without treatment, death. Severe bleeding around the brain or nerves can cause paralysis, seizures, and without treatment, death.

How can they be treated?

Blood transfusions can help save the dogs when they are actively bleeding, by giving them another donor dog’s Factor VIII to use. But transfusions only last a few hours, so they are not a long term solution. Cryoprecipitate is best to use for transfusion, as it is highest in factor VIII, but plasma can also be used if it is not available.

How can they be cured?

Scientists have developed a one-time gene therapy treatment that provides a permanent cure to these dogs. They were able to take proteins that make the missing clotting factor and splice them into a (safe) virus to direct the dog’s liver to begin producing the proteins itself. In the first study completed, nine dogs were treated and followed for ten years, and 100% of these dogs continued to produce Factor VIII ten years later after a single infusion.

Two hemophilia patients treated with gene therapy still living their best lives today! Baggins and Doby!

For Vets

Hemophilia A is a rare, X-linked, genetic deficiency of clotting factor VIII. These dogs usually have a normal PT and a slightly prolonged aPTT. A Cornell Coagulation panel is necessary to confirm the diagnosis…

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