Tag archives: clotting disorder

What’s the Deal with von Willebrand Disease II? - An Important Update for the Boykin Spaniel

What’s the Deal with von Willebrand Disease II? - An Important Update for the Boykin Spaniel

The clotting disorder known as von Willebrand disease (vWD) is a relatively common and potentially lethal disease of dogs. Three general types of vWD (types I, II, and III) have been described based upon the specific genetic cause and level of deficiency in a protein known as von Willebrand factor (vWF), which plays an important role in blood coagulation. Dogs deficient in vWF protein are at risk of potentially life-threatening bleeding episodes when undergoing surgical procedures or as a result of traumatic injury. Therefore, when a relatively high frequency of Boykin spaniels was identified in the Paw Print Genetics (PPG) laboratory to carry a mutation in the VWF gene previously associated with vWDII in German shorthaired and wirehaired pointers (Kramer and colleagues), Boykin spaniel lovers and our team at Paw Print Genetics (PPG) were understandably concerned.

Concern turned to confusion as Boykins expected to be at risk for vWDII (based upon their genetic testing results) failed to show any signs of a clinical clotting disorder. In addition, results of additional blood tests looking at the product produced by the gene on several “at-risk” dogs showed no deficiency in vWF protein and no increase in blood clotting times. At that time ...

The Von Willebrand Disease Type II Mutation and the Boykin Spaniel

The Von Willebrand Disease Type II Mutation and the Boykin Spaniel

Von Willebrand disease (vWD) is a group of relatively common, inherited disorders of blood clotting in dogs. First described in humans in the 1920’s, vWD is now known to be caused by various mutations in the vWF gene which serves as a blueprint for a protein known as von Willebrand factor (vWF). The vWF protein plays an important role in the cessation of bleeding by binding and adhering platelets to wound sites. VWD is categorized into three main classifications (I, II, and III) based upon the quantity and structure of vWF protein present in affected dogs.

In 2004, a scientific paper was published by Kramer and others which described a specific mutation in the canine VWF gene associated with vWD in the German shorthaired pointer (around the same time, the same mutation was also identified as a cause of excessive bleeding in the German wirehaired pointer). Classified by clinical presentation as von Willebrand disease type II (vWDII), the discovered vWDII mutation has only been described in the scientific literature for the two German pointer breeds. However, the Paw Print Genetics laboratory identified the same mutation in several other breeds including the Boykin Spaniel. To our surprise, the mutation has been ...

Preventing Inherited Von Willebrand Disease in the Kerry Blue Terrier

Preventing Inherited Von Willebrand Disease in the Kerry Blue Terrier

The Irish-bred, Kerry blue terrier (KBT) is historically a well-rounded working dog with its roots in hunting small game and rodents. However, their intelligence and diverse abilities have also led to their success as guard dogs and as a herding breed. Like many terriers, the KBT is known for its high energy and tends to benefit greatly from daily exercise. Though early KBTs were often selected for their tenacity and aggressiveness to perform their duties as hunters and guard dogs, these attributes historically made them less suitable companions for other dogs. However, modern breeding efforts have focused on maintaining their high energy while decreasing tendencies toward aggression.

One of the most striking attributes of the KBT is their characteristic hair coat. Kerry blue terriers are born black, but develop their beautiful, soft and wavy blue/gray coat during the first two years of life in a process of color fading, commonly referred to as “clearing”. Dogs displaying black coloration on the body after 18 months of age are disqualified from the AKC show ring. However, black on the extremities (muzzle, head, ears, tail, and feet) is allowed at any age.

This spirited breed, though relatively healthy, has developed some inherited disease concerns ...

Degenerative Myelopathy and Von Willebrand Disease I in the Bernese Mountain Dog

Degenerative Myelopathy and Von Willebrand Disease I in the Bernese Mountain Dog

From their roots as a well-rounded Swiss farm dog, the modern Bernese mountain dog (BMD) is well known for its friendly and affectionate demeanor. This intelligent and adaptable breed has gained the love of many Americans since its introduction to the United States in 1926. In 2014 the BMD moved to 31st place in the AKC registration statistics and appears to be growing in popularity as the breed has moved up 8 places in the rankings since 2009.

Like many purebred dogs, the Bernese mountain dog is known to inherit some health issues that are of major concern to breeders. Unfortunately, genetic discoveries for some of the most concerning inherited issues for BMD breeders, such as a type of cancer known as histiocytic sarcoma, have remained elusive. However, some inherited diseases of Bernese mountain dogs can be avoided through the use of genetic testing technologies and selective breeding practices.

Degenerative Myelopathy

The late-onset neurological disease, degenerative myelopathy (DM) is one such disease that can be prevented through genetic testing. In 2009, a mutation in the canine SOD1 gene was described as a major cause of DM. Since then, the mutation has been reported in over 100 dog breeds including ...

Thrombopathia: A Preventable Inherited Disease of the Basset Hound

Thrombopathia: A Preventable Inherited Disease of the Basset Hound

Since the first exhibitions of the modern basset hound in the late 19th century, their mellow and charming personality has made them a popular family dog. Though according to the Basset Hound Club of America, it is not unusual for a basset hound to be a little stubborn or to have “selective hearing” (especially if following a scent trail), this minor annoyance is easily tempered by their affectionate and sensitive disposition. Originally bred for hunting with a person on foot, the basset hound’s short legs kept them from outrunning their handler while following their exceptional nose. Unfortunately, like other purebred dogs, the basset hound has also been unable to outrun susceptibility to certain inherited diseases. One such condition is a disease of blood platelets known as thrombopathia that occurs due to a mutation in the RASGRP1 gene.

Dogs affected with thrombopathia produce a dysfunctional form of a protein important in the aggregation of platelets during blood clotting. The resulting inability to produce functional blood clots leads to easy bruising and frequent episodes of spontaneous bleeding from the gums, nose, and the gastrointestinal tract. Affected dogs may also show signs of lameness due to spontaneous bleeding in joints. Loss of ...

I want one-stop genetic screening. Do you offer a test for von Willebrand disease?

I want one-stop genetic screening. Do you offer a test for von Willebrand disease?

No bones about it, being a great dog breeder is tough work! Picking dams and sires, health testing, monitoring heat cycles, caring for pregnant dams, vaccinating and deworming, and promoting and selling your puppies are just a few of the many tasks one must accomplish to be a top notch breeder.

One task that has historically been overly complex and time consuming for some breeders is getting genetic testing performed on their dogs. In the past, this often meant sending samples off to multiple laboratories to get testing performed because it was unusual for canine genetics laboratories to offer all of the tests needed under one roof. In addition, this situation meant filling out multiple submission forms, obtaining proper samples for each lab, and in some cases, waiting for several weeks for results. When Paw Print Genetics opened the doors for testing in 2013, it marked the beginning of the end for what I have termed the “multi-laboratory genetic testing dilemma” that most dog breeders were used to. Now, with over 140 genetic tests in well over 200 breeds, Paw Print Genetics has made a commitment to make canine genetic testing more convenient, user-friendly, and more affordable.

One important genetic ...