L2hga and HC

L2 HGA & HC are the only two diseases we can DNA test for in Staffordshire Bull Terriers. There is no excuse or reason for today's breeders to NOT KNOW the status of their breeding stock.

SBTpedigree started in 2016 to to collect DNA test results sent by email from owners and breeders. The purpose of doing so was to ensure the accuracy of the submitted results in the database. Prior to 2016, users had the option to add the status themselves, but documentation was not required. Although we all claim that our dogs are hereditary clear, only a few of us could actually provide documented proof.
This was the intention with collecting the documents, - to prove the dogs are hereditary clear. In the following section, we will provide further explanation about the diseases.

When documentation now was necessary we got alot of feedback that several people needed to actually test (or re-test) their dogs to provide the documentation SBTpedigree requested. This was originally added to the database manually, one by one, but in 2022 we finally got some of the task automated. Each document is still viewed by admin and approved or denied manually, but the documents are now uploaded through the dogs profile page instead of sent by email. From 2019, only lab results and a few KC verifications are accepted as correct documentation.

SBTpedigree.com holds a huge collection of lab results from Staffords all over the world. Every DNA-Clear, Carrier or Affected registered with SBTpedigree.com, we got documented.
SBTpedigree have thousands of both L2hga and HC results, which gives the database additionally thousands of "hereditary clear" (or "clear by parents") dogs out of all the documented dogs. Today we have 28,125 L2hga results and 26,534 HC results in the database.


What is L2hga?

L2hga (L-2-hydroxyglutaric aciduria) is a neurometabolic disorder that is inherited by the parent(s) carrying or is affected by the L2hga mutation. It is inherited in an autosomal recessive manner wich means an affected dog must have two copies of the mutation to show symptoms. Symptoms can show as seizures, behavior changes, or both. Muscle spasm, increased aggression, loss of body control to mention a few examples.
Fortunately, the number of Staffordshire Bull Terriers affected by this disease has significantly decreased due to the effectiveness of breeders excluding dogs from their breeding program and using DNA testing as a control measure. However, it is crucial to emphasize that testing should not be discontinued. If you wish to have your dog tested for L2hga, simply contact your veterinarian to schedule an appointment. They will collect your a DNA sample from your dog and send it to a certified laboratory. Subsequently, you will receive the test result which is either: Clear, Carrier or Affected.
A dog can be tested by a swab or by blood. There is no need to wait until the dog is an adult. There is no cure for this disease so it is important that ALL BREEDERS know L2hga status in their breeding stock.

What is HC?

HC (HSF4, Hereditary Cataract) is a disease affecting the eyes and sight.
Mutations in one gene called HSF4, has been shown to cause HC in a number of different breeds (Australian Shepherd, Boston Terrier, French Bulldog and Staffordshire Bull Terrier). The mutation in HSF4 is an autosomal-recessive condition. Same as L2hga, a dog must inherit two copies of an abnormal gene (one from its mother and one from its father) before its health is affected. A dog that inherits only one copy of the abnormal gene (from its mother or its father) will have no signs of the disease, but will be a carrier and may pass the gene on to any offspring. HC in Staffordshire Bull Terrier affects the sight and can develop into full blindness. HC, as L2hga is easy to control by DNA testing and there is abolutely no reason for this disease to spread as long as the breeders are responsible in their breeding.



DNA testing

When you get the result from the laboratory or your veterinary, make sure you get the actual report sent to you by email. This report will give you one of the results below and this report needs to be uploaded to your dogs SBTpedigree profile for it to be registered to SBTpedigree database. Read more about how to upload a DNA result here.

CLEAR: the dog has 2 copies of the normal gene and will neither develop L-2-HGA / HC, nor pass a copy of the L-2-HGA/HC gene to any of its offspring.
CARRIER: the dog has one copy of the normal gene and one copy of the mutant gene that causes L-2- HGA. It will not develop L-2-HGA/HC but will pass on the L-2-HGA gene to 50% (on average) of its offspring.
AFFECTED: the dog has two copies of the L-2-HGA/HC mutation and is affected with L-2-HGA/HC. It will develop L-2-HGA/HC at some stage during its lifetime, assuming it lives to an appropriate age.



If you are curious whether your dog should be used in breeding after getting your results we have set up an easy explanation below

CLEAR: Yes, the dog can be used in breeding
CARRIER: Yes, the dog can be used in breeding, BUT you will produce carriers so all offsprings will need to be tested. Breeding with a carrier is a huge responsibility but it is not a sick dog so it is possible to use in breeding if it's needed. Please make sure the decision is well thought through.
AFFECTED: No, the dog is affected, and should not be used in breeding.

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If you have any questions you are welcome to contact SBTpedigree by email: [email protected]

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