BSS – Bernard-Soulier Syndrome

Cocker Spaniel Type GP9

Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells involved in blood clotting. Dogs affected by Bernard-Soulier Syndrome (BSS) have increased or prolonged bleeding tendencies, formation of a hematoma, or large blood clots.

The clinical signs include excessive bleeding from cuts and other injuries, gum bleeding, nosebleeds, etc.

The GP9 gene encodes a subunit of a platelet surface membrane glycoprotein complex; this functions as a receptor for von Willebrand factor (VWF), which initiates the maintenance of blood clotting (hemostasis) after injury.

Lethal bleeding disorder characterized by low platelet count, unusually large platelets compared to the standard size and substantially worse blood clotting. It is caused by lack of glycoprotein that is normally found on the surface of blood platelets and acts as a receptor of another protein found in the circulating blood called von Willebrand factor (vWF). In case of injury the glycoprotein binds with vWF to stabilize the blood coagulation. In individuals affected with BSS the formation of blood clots is unstable or very difficult.

DNA Testing is not done at your local vets.

Mode of Inheritance
 Autosomal Recessive
Blood (Hematologic)
This is a heredity condition passed on from the parents. If you're getting a puppy make sure that at ;east one parent has been DNA tested Clear, to ensure you're puppy wont be affected by this condition.
Onset
 2 - 4 years old
This is the average age on clinical symptoms.
Testing Available
 DNA
DNA testing is available from international laboratories. (It can not be done at your local vets).

My Research Notes on BSS

I believe BSS requires more objective study and full trial analysis before including it as a Minimum breed standard requirement.

Notes

Orivet now includes this test as part of their full breed panel, so further information is being gathered which should prove a much better idea of its occurrence within the breed. However they do not publish their statistics, so we're still reliant on self reposting via CSDB.

Until that happens I will undertake the testing but be cautious with the results, as the sample size was to small and imperfect, to enable objective data analysis. It's early stages and more refined testing is required once more is known by scientists.

There is a link below regarding my experience with using tests that are not fully proven or peer reviewed.

BSS Articles

BSS Around The World

A 2019 study, was of 4 Cocker Spaniels of Italian origin, all seen by Vets with characteristic clinical signs of human BSS, suggesting the GP9 gene most likely the cause.

As at August 2023 there were 33 cocker spaniels recorded as being BSS carriers 32 are in Italy and 1 in Croatia all pedigrees linked with Francini's Kennel breeding lines.

There is some controversy regarding the findings. Mainly due to the use of such a small subject number and the pedigree links between each.

There don't appear to be any further specific studies

Informal data collected from CSDB
*7 of these have been determined by producing carrier offspring, with a DNA tested mate.
Data lasted updated Dec 2024