I have kept German shepherds since I was 14 (42 now) an bred a couple of litters when I was in my early 20's.
  My old girl died at 14 years of age a couple of weeks back,thankfully I have a 21 month old bitch that is helping to fill the void,However She unfortunately is a possible haemophilia carrier as a couple of her male littermates died from this so obviously breeding from her is out of the question.
  So now I am trying to do some research before  getting another pup but finding it a veritable minefield trying to get questions answered because I don't want the same thing happening again (incidently the sire of my bitch tested clear for haemophilia so presumably it may have skipped a generation or so).
  As a start to a possible line how would one know when getting a bitch puppy whether it was a carrier of this awful desease .
  The breeder herself couldn't have been more devestated when she found out as you can understand an good for her to contact the owners of the rest of the pups,sorry to ramble on but my sheps are quite dear to me.
  Any help an or advice would be very much appreciated.

Hi
I am answering this on the basis of actually being a heamophilia carrier myself. I also have 2 daughter carriers and 1 son with heamophilia.

Blood testing is the only way to know for sure. I am positive that your girl was a rare case of genetic mutation as it is impossible for a father to have it and for the daughter not to inherite it. And as the sire was tested negative I am positive this is the case. However the bitch could be a carrier. Has she been tested?

Heamophilia is carried on the x chromosone (? Spelling) Males only have one so therefor the are affected by the disease, whereas females have 2 so if one of the x chromosones are lacking Factor 8, the missing chromosone, the other will make up for it.
Also therefor, when a father has it and he has a son, the son will NOT inherit it, BUT the daughter has to be a carrier. When a woman is a carrier, her children, boy or girl, have 50% chance of inheriting it.

I would, if you are worried about future incidents, which would be so very very rare, ask any future breeder if they would test the pup.

sorry if I rambled a little or a lot
best of luck

Thanks very much for your input,it's quite a thing to get your head round if you are a layman

It is indeed... Hopefully I havent left you more confused

Not quite!! lol

Most good gsd breeders will only use haemophillia tested studs & do not breed from the mother or sisters of a suffer

As I understood it the haemo must have skipped a generation.........Checked to see that the sire was tested clear but never even dreamt that it would come from the dams side.............oh well, she is a wonderful dog an wouldn't part with her for the world now

Krankypuss am I reading this right , you're saying that my bitch has a 50/50 chance of having haemo so ...........if i were to have her tested an she was clear  would her progeny be haemophiliacs/carriers?

Females don't exhibit Haemo they can be carriers or clear. 

Here is a brief description of the inheritance I found when I did a search:

"If an affected male is allowed to be used for breeding purposes, all of his female progeny will carry the defective X chromosome necessary to perpetuate the disease. They in turn will pass the disease on to half of all of their offspring. On average, half of the sons of affected females suffer from the disease and half of the daughters will be carriers. It is a chain reaction which can quickly become out of control. "

http://www.workingdogs.com/doc0155.htm

I think for starters you need to have her tested and see for sure that she is a carrier. If she is not, then none of her litters will be affected. Your breeder needs to get the dam tested so that previous litters or their new owners rather can be contacted. And of course for her own knowledge about he girl.

Brainless, Essentially what you read what right, however I disagree where it says that half of the litters will be carriers or heamophiliacs...you have 50% chance with each person/pup, I know families that have 6 & 7 kids and none of the children are affect or carriers at all. Luck of the draw basically.My grandma comes from a family of 12 children and she is the only carrier, not even her brothers are heamophiliacs.

Moonmaiden, You are right, no breeder will breed from affected bloodlines.. However from what i understand, from what I have been told, it is not normal practice to have sires or dams checked for this disease. If they carry a mild strain, it can go unnoticed until a accident or surgery is needed. My opinion would be to have all my dog's completely blood screened.

Statistics work out like that one litter could be all carriers, and another all clears, but statistically it is still 50/50.  Also the testing for the bitches being carriers isn't very reliable it really needs the sire of the bitch and that of her Dam to be tested if at all possible.

Why is the testing not reliable? If it is not reliable for one dam being a carrier, why would it be more reliable for her mother to be tested?
You are always, 24/7 a carrier or a heamophiliac. You blood results wont differ that much to give a false negative. It goes on scale of extremity. 0-5 severe...5-13 moderate...13-150 mild. These are your blood clotting times. There are other factors such as aapt times and much more.
I am not jumping on you at all, I am just wondering like I said above, why would it be more reliable for the mother to be tested? And if it says the mother is a carrier, you are still no closer to knowing anyway because of the 50% spin.
If in your experience you have found that the testing is not reliable, I would be asking questions why. The testing for humans are animals are essentially the same. The blood clotting and timing testing is all the same.

I just wanted to add this post to offer again, please please dont think I am being a cow or jumping on you brainless. I dont often post to replies on this board, for the simple fact...Most of you know more about breeding than me.
Even if it is a simple question, I am reluctant to answer, even if I know the answer. But I do know about this, being a carrier myself and having a son who has heamophiliac and daughter carriers.

I really dont want to come off as a tyrant, so if I have I apologize in advance

it is a it is an ineresting subjuct an thank you both for you input

From what I ahve read it would seem in dogs that the bitch testing results for carriers are not that reliable because of the varibility of expression, but teh results for males are definite.  I didn't say test teh mother but the mothers sire, or least ways that is what I meant to say :D

krankypuss

Dogs from what most people call the germanic lines will 99.99999999% of the time males will be haemo tested. There is as far as I am aware no fuoolproof test for bitches at this time.

What breeders do or do not test for on the "middle of the road" or Alsatian sides I'm not aware as the only GSDs I have ever owned or had an interest in have been 100% german bloodlines

>my bitch has a 50/50 chance of having haemo so <

Your bitch would only have a 50/50 % chance of having haemophillia if her father had it & her mother was a carrier. bitches that receive the defective gene from both parents are very rare & if she was from german breeding this would not happen as I have written elsewhere nearly all breeders of dogs with german blooodlines haemo test the males & do not use affected dogs. Bitches with haemo rarely live very long & unless spayed very early(which is a huge risk in itself)have been known to bleed to death during their first season

If your bitch has haemo she would more than likely die from blood loss during whelping or at the very least be exctremely ill & unable to raise her puppies

If she is clear then she can only produce carriers if bred to a sufferer

I have to strongly disagree Moonmaiden. His bitch will not die from blood loss during whelping or be ill at all due to being a carrier. I have never been ill a day in my life sue to the 5 kids I have delivered, or has any carrier that I have ever heard of. There is also no risk at all in spaying the bitch for the same reasons.

Female ARE NOT affected. They carry the disorder to their young. That is the extent of their part in the role. As I explained earlier, females have 2 x chrosomones.....While one is defective with the gene the other has more than enough factor 8 to sustain blood clotting.

That is how I understood the female role in this, was getting confused there for a minute. :D

I was writing of bitches with a double defective genes Barbara not the carrier bitches with one gene

The reason I know is one of my friends in Germany bought a puppy bitch that had the double defective genes from her father & her mother(a long time ago now)& she died from blood loss during her first season

Ah I see, I can understand the double wammy, with humans it would be very unlikely to occur, the marriage of an affected man to a carreir woman, which is why we 0nly hear of men being affected.

I think that any male human sufferer would have a partner who would have the carrier test done before having children. I know a friend's son who had a lung transplant because he has cystic fibrosis(sp) married & his wife had a DNA test done to see if she is a carrier(she isn't fortunately)He told me they had decided to foster if she had been a carrier as neither he or his wife wished to have children who were 50% likely to have CF

Krankypuss please read my post you state

> His bitch will not die from blood loss during whelping or be ill at all due to being a carrier. <

I wrote

"Your bitch would only have a 50/50 % chance of having haemophilia if her father had it & her mother was a carrier. bitches that receive the defective gene from both parents are very rare & if she was from german breeding this would not happen as I have written elsewhere nearly all breeders of dogs with german blooodlines haemo test the males & do not use affected dogs. Bitches with haemo rarely live very long & unless spayed very early(which is a huge risk in itself)have been known to bleed to death during their first season"

ie if the bitch HAS haemo not if she CARRIES  haemo ie she has the defective gene on BOTH her X chromosomes

There ARE recorded existances of female haemo GSD bitches in Germany they were all daughters of a well know haemo dog & all died before their first birthday.

Please read the actual posting nowhere do I suggest that CARRIERS die from blood loss only dogs that HAVE haemo

BTW isn't it haemophilia not heamophilia ?

If you want to get petty over the spelling go right ahead, I apologize for the typo's to those who care that much. I repeat that females are NEVER EVER under any circumstances Haemophiliacs. They are carriers. Your friends dog may have had a similiar disorder like christmas disease, or von willabrands disease, where they can be affected, if that is the case. There can be NO double defect gene in Haemophilia A.
I never said that i disagreed with the part where you wrote that 50/50 if the father is affected.

Moonmaiden, you are speaking to someone who is a carrier and who works closely with the Australian Haemophilia Foundation and has a son with the disease. I have made it my business to study this disorder for the sake of my children. I am in also close contact with the Docs, physiotherapists and cousellors at the Royal Childrens Hospital.

Like I have said earlier, I know about this disease first hand, it is a part of our families life, I very rarely post on here because I know a hell of a lot less about breeding than you do. But I can guarantee that I am more knowledgable about this.

Hi Krankypuss

Affected females are possible in dogs and humans but they are very rare because, as moonmaiden says, they inherited the defective X from both sire and dam.  This means that the sire must be affected himself.

Females carriers are not detectable in dogs as they are in humans as there is no DNA test available yet.  There is for Haemophilia B but not A.  From what I've read, it is possible to pick up some female carriers from clotting level tests but this isn't reliable.

Julie

Thanks Julie I know that I was right as my friend intended for me to have the puppy after she had been trained & shown in Germany & was devastated by her loss. The PM revealed haemo & then the **** hit the fan as apparently she wasn't the first this dog had produced only no one said anything before ! it brought about the haemo testing of male breeding dogs in Germany & the insistance that dogs/bitches were not used that had an unbroken female line to this stud dog(unbroken as in the dog only being on the bitch line & no male descendant of him(who could be tested)in the line). She was such a gorgeous bitch too such a waste all because someone kept quiet about previous haemo dogs !

the testing for haemophilia is not a dna test. it is a simple blood test for clotting times.

I've seen several references to human DNA testing...look here -

http://www.cs.nsw.gov.au/csls/RPAH/molclin/Haemophilia.htm

In haste, I'm off to spend a week on a remote UK island nature reserve...no 'puters, not even sure if there's TV! and no dogs :-(  TTFN

Julie