Haemophilia 'A'

    The Importance of Continual Testing -

       Facts not Fiction.

 By: John L Allinson F.I.B.M.S.  1995.

"I think testing dogs of other (non-suspect) lines to be a complete waste of time and money"

"...........it is only necessary if a dog has a pedigree that suggests he could be affected"

Shocked? Surprised? Don't be.!

These are not my words. Nor do I agree with them - not only as a dog breeder but more importantly as a scientist.

Whilst the 2 peers of the breed who made these statements in a national weekly canine publication can claim to have great knowledge of the breed and successful breeding regimes, I am not aware that either of them have the scientific knowledge, experience or qualifications which warrants them to makestatements such as these which have such far-reaching implications.
Of course, they might not claim to have. Unfortunately their standing within the breed will undoubtedly mean that a great many people who look to them for advice will take note of what they have said and follow their commentsaccordingly. I would equate the two statements above to that of the one made
by Edwina Curry when she was Junior Minister for Health, related to Salmonella contamination in eggs - and for which she later had to resign. As a result of the statement, the general public (seeking advice) took her advice to be qualified (it wasn't) resulting in the near down fall of the egg industry in this country.
The message here is clear. If you are in a position to influence a group of people by giving advice on a particular subject for which you are not qualified, make sure the advice you give is accurate and correct. If it is an UNQUALIFIEDOPINION, then you must say so.

I make no unsubstantiated claim to my knowledge, experience or qualifications, nor do I give advice which cannot be corroborated by scientific fact. Read on........ and make up your own mind.

What is now required is to put matters into perspective. One of the breed experts above went on to say that they felt Haemophilia 'A' in our breed is a proportionately tiny problem. Such a statement suggests few affected cases - there are (known that is). Also it suggests a method of control of the disease -
there is. But what doesn't it say? If we are going to compare haemophilia with other diseases in dogs then factsand figures are needed to give the statement perspective. More over, the datashould with stand scientific scrutiny. So proportionately to what? and why? Also if the person doesn't agree with testing can they assess the impact that testingor not testing will have over the breed's population in terms of the disease?
What historical proof have they that what they say is true?
Largely, in the canine world, little work has been done on many diseases with populations large enough to glean statistically significant data and so we rely toa great extent on cross-species comparisons. This is usually with human diseasedata. Obviously, to do this, certain criteria regarding the disease needs to be
identical to allow the comparison to be valid. With haemophilia this includes such things as the fact that the genetic defect and the mode of inheritance arethe same.
However, before I go on to give you some facts about the disease and our breed, let's just ponder a particular problem in another breed of dog in this country and ask ourselves what those breeders would do if they could turn backthe clock..........

Disease - Von Willebrand's disease

Breed = Doberman.

Incidence- reported by some experts today as being as widespread as 70% of the breed carrying the defect. Testing - can be done, although it is not as easy as with haemophilia 'a' and hence more expensive. Frequent of testing - verylittle done over the last 10 years when compared with the Doberman
population.
The method and opportunity of limitation of the disease in this breed has been largely missed and the task to irradiate it is now immense. What do Dobe. breeders think about our screening service? If you know any - ask them. Ialready know.
Now, I'm not saying that Haemophilia 'A' has the potential to become as large a problem. What I will give you to consider is the facts.

FACTS:

What are the facts of the disease in this country? I can give you some of them.
However, you will see, some of the facts raise questions that can not be answered. Furthermore, it is often useful to keep an open mind and a broad perspective when trying to come to your own decision regarding what YOU think about the disease.

Fact 1- Known Haemophiliacs.

We know of 4 males diagnosed as haemophiliacs who have had an impact on the breed in this country:-
X-Ray vom Trienzbachtal, Eick Vom Haus Beck, Vikkas Edo and Elgar.

X-Ray and Eick were both imports and so the main question here is - how many daughters did they have? THEY WILL ALL BE CARRIERS.
Edo and Elgar both implicated their mother- another import- as a carrier of the disease. Here again, all of their daughters will be carriers and they may alsohave other siblings who may also be haemophiliacs or carriers.

Fact 2.

The Breed Councils Scheme has identified directly or indirectly:- 7 males as haemophiliacs, 3 NEW females as carriers (to be added to all the daughters of the dogs above)

Fact 3

The scheme has been in operation for 3 years and now has just over 1000 dogs on it's database.
So - 1000 dogs tested - 10 new 'affected' animals identified (0.1%)

Fact 4.

Over the same period about 55,000 GSD's have been registered with the UK KC. Only about 60% of those tested were born within this period.
Therefore- of 55,000 (about 28,000 males) we have tested about 600. The equivalent of TWO PERCENT of the population.

Fact 5.

What is happening in the other 98% of males?
We don't know. Nobody does.
And there the facts end.
No opinion, no conjecture. We can not say what the status of the disease is in our breed.
Quite simply IT IS UNKNOWN.

What can we do then?

Here it is up to you to make your mind up. If the disease is truly a 'tiny' problem then hopefully we would want to keep it that way and not follow the path of our Doberman colleagues. It is a simple matter to do this.
At very least, every stud dog needs testing before being allowed to service a bitch. Remember- the defect will not become apparent until the second generation of descendants. A popular stud dog could have hundreds of offspringbefore a problem may come to light. Further more, many breeders find it useful to test their male puppies. Asmentioned elsewhere this has 2 benefits:- 1. It assesses the status of the females producing them - the only method available to females and 2. It ensures malepuppies are passed on to new owners secure in the knowledge that they arefree from the defect - and it lasts for a life time!

Justification for testing.

I have talked about comparability with the disease in humans before. Basically in this country, haemophiliacs are being born at the rate of about 1 in every 9000 births. A THIRD of these are NEW mutations.
This business of 'mutations' seems the most difficult of facts for breeders to come to terms with. It is understandable given that all the PUBLISHED data on haemophiliacs relates to dogs descended from Cant von der Weinerau. I have written elsewhere that at least one new mutation has been diagnosed by JeanLittlewood, but because of the owners request for confidentiality, she is not in aposition to publish the information. However, as stated above, the 'Canto'scenario is almost certainly due to the fact that over the period of time that 'Canto' has been known as a haemophiliac, less than 1% of male dogs has
been tested in this country. Also as stated elsewhere, it is almost certain that the mutation rate in the dogs
we are breeding is far higher than that of humans owing to the affect that inbreeding has on mutation incidence.
With the sort of frequency mentioned above, if we are talking about a genetic disorder in humans, it is almost certain that automatic testing for the disease atbirth for every child would be compulsory in this country.

Go-on. I hear you now. You don't believe me! Well it's true.
With regard to haemophilia 'A' luckily because of the standard of care and routine testing performed in the National Health Service today (related to new born infants that is) the defect, if present, would be picked up very quickly. Most of us (hopefully) would agree that the standard of technology in most maternity
and special care baby units exceeds that present standard in the whelping box!
But what of the diseases that aren't so easily apparent in humans but which can have crippling effects if allowed to progress undiscovered? (There is a similarityhere with canine haemophilia in that many cases are either mild or moderate).
So let me back up the statement on compulsory testing.
There are 2 diseases in humans, both generally due to new genetic mutations, which are routinely and mandatory tested for in every new-born infant in this country. They are performed shortly after birth. The incidence of both thesediseases are MUCH LESS than the expected incidence of Haemophilia 'A' in
dogs.

Relevance.

What is the relevance of this?
Well, consider this. How would you feel if you had a son or daughter who was not diagnosed of one of these potentially crippling diseases knowing that a testing procedure for each was readily available, simple, and cost effective?
Other peers of health care have already determined that the benefits of such schemes out weigh the cost of screening and one of the schemes has been in operation for at least 25 years.
Is it wrong for a puppy purchaser to expect the same level of service knowing as we do that the disease is present in every breed of dog but the incidence is largely unknown. Now, we may choose to test for less emotive reasons - primarily to protect the genetic integrity of the GSD population in this country.
But as breeders, should we not consider that to the individual with a haemophiliac puppy, it is the primary health and care of their dog which is to the foremost of their mind - and why should that be wrong?

Negative Results.

One of the problems often associated with getting this sort of testing service - especially when in its infancy - is the fact that nearly all the dogs tested arenormal.
That is to be expected. This scheme (as the 2 human ones above) has 3 main functions:-
1. The first (and main) function is to identify the affected cases. In the case of dogs that will have further consequences. These will include removal from the breeding programmes and a protective lifestyle to try and avoid trauma. Somebreeders will consider automatic euthanasia. Where this is not the case, the
dog's veterinary surgeon will be forewarned of the condition.
2. The second function is to 'clear' dogs so they can be used for breeding confidently and without restriction.
3. The third function is 'feedback'. Because the human schemes are compulsory they give a continual update as to the status of the diseases concerned. Unfortunately, we will never gain an intelligent insight into Haemophilia 'A' in the GSD by looking at such a small percentage of the population.

Final Consideration.

I finish this article by referring back to the two opening statements. Some of you will already have read the article they were contained in, some of you may not be aware of them.
Clearly they were made by breed experts. The editor of the publication chose them (and others) with that in mind. I agree - they are people for who I havethe utmost respect when it comes to their knowledge of the breed in general.
Unfortunately by saying what they did (and in one instance the way they said it) they have put themselves up to be shot at.
I have no axe to grind with either of them, but unfortunately I do take personally what they have said since it clearly contradicts entirely what I have published in many articles. Therefore, it is with some regret, since I have nowish to either openly embarrass or offend them I will for the sake of science
and my own conscience close with an interesting point.
Apart from the fact that they are both respected breed experts they both have one other qualification to which they can put their name.

THEY HAVE BOTH BRED HAEMOPHILIAC GERMAN SHEPHERD
DOGS.

Do you want to join their somewhat exclusive club?

Make up your OWN mind.
 

People wishing to use the scheme can
contact IDEXX Labs at 01937 544000