Queen Victoria carried severe haemophilia ’Christmas disease’ gene

[rgt9w]

http://www.timesonline.co.uk/tol/news/science/genetics/article6867110.ece

[Sara Araújo]

Very interesting! So that means that, had they survived, Anastasia would be only one of the four daughters who could give the disease to her children...

[Sarai_Porretta]

It's possible some of the other daughters also carried it, they just only tested Anastasia's bones (or Maria's depending on who was the last daughter found, I don't think they have ever conclusively proven who was found with Alexei in 2007, if it was Anastasia or Maria). I remember an account given by Grand Duchess Olga Alexandrovna that Maria once started bleeding heavily during a tonsil operation and that may be an indicator she was a carrier, who knows.

[rgt9w]

According to the supplemental / supporting data of the article, they tested bone specimens of Alexandra, Alexis, and all of the daughters. They only found the mutation in the one set of daughters' remains (Anastasia / Marie...depending on which set of remains you believe are which)

[Ally Kumari]

I  remember an account given by Grand Duchess Olga Alexandrovna that Maria once started bleeding heavily during a tonsil operation and that may be an indicator she was a carrier, who knows.

Yes. The doctor was so horrified he only finished the operation on Alexandra´s severe command. To me it is another hint that the missing Grand Duchess was Maria.

[Romanov_fan]

I agree with that Ally. I thought of that too. I don't recall the specifics of the whose remains was it, Marie or Anastasia debate, I'd have to go read about it again, but what you say may well be true. Marie may have been the carrier.

[Kimberly]

Calling Mr Kendrick !!!!! :-)
And here;

http://sciencenow.sciencemag.org/cgi/content/full/2009/1008/2

[Sara Araújo]

I agree with that too!  It probably was Maria there after all and that was my belief all along. I mentioned Anastasia because it was the name on the news.   

[J_Kendrick]

Calling Mr Kendrick !!!!! :-)

Yes?   You rang? ;-)

Finally, after all this time, my pushing for those gene tests actually pays off with an answer...

... and not the least bit surprisingly, we get this... just as I had expected...

From GenomeWeb news October 08, 2009
http://www.genomeweb.com/sequencing/study-finds-hemophilia-b-causing-mutation-russian-royal-remains

"The researchers did not find missense mutations, insertions, or deletions in any of the F8 or F9 gene sequences they tested."

But... we also get this...

"On the other hand, they did identify a substitution upstream of one of the F9 exons."

Which now leads us to this:

INCIDENCE OF LEUKEMIA IN PATIENTS WITH HEMOPHILIA
http://www.blackwellpublishing.com/isth2007/abstract.asp?id=64991

"Conclusions: Incidence rates of leukemia in a large cohort of males with hemophilia were elevated compared to the general male population. Rates were elevated in both young and old and HIV positive and negative patients. These data suggest that hemophiliacs are at increased risk of leukemia"

...and even more significantly, it leads us to this:

ACUTE LEUKEMIA IN TWO PATIENTS WITH HEMOPHILIA
http://www3.interscience.wiley.com/journal/112682295/abstract

Abstract: A 10-year-old classic hemophiliac and 1.5-year-old child with hemophilia B who developed acute lymphocytic and acute myelomonocytic leukemia respectively are presented. No changes in coagulation status of the patients were observed. It is suggested that hemophiliacs should be regarded as population at risk for the development of leukemia.

So...

You can just guess where I'm leading you to next with this latest evidence, can't you? ;-)

Na Zdarovye!
JK

[Ilias_of_John]

Silly question but here goes!
Who of Queen Victoria's living descendants is a known carrier or sufferer?

[Kimberly]

I don't think there are any Ilias.

[Ilias_of_John]

I would have thought that there may be as I am under the impression that medicine has not been able to remove the gene from the carrier, but then again, what would I know!
 

[J_Kendrick]

Silly question but here goes!
Who of Queen Victoria's living descendants is a known carrier or sufferer?

There are no living carriers or sufferers among Queen Victoria's descendants.  There are no known carriers or sufferers in any of the generations after Alexei.

It starts with Leopold's generation and ends with Alexei's.  There are no known carriers or sufferers outside of those three short generations.

None, Nada, Zip, Zero.

... a curious fact about this blood disorder that has yet to be properly explained.

[Ilias_of_John]

Very curious!

[J_Kendrick]

Very curious!

Very Curious, Yes...

... and so... Here's yet another key question to ponder:

Since there are no living descendants of Victoria who now either carry or suffer from the disease... and since there are no known carriers or descendants in any of the generations after Alexei who either carried or suffered from the disease...

What would now happen if someone were to test the Factor IX genes of one or more of today's living matrilineal descendants of Victoria and if we were then to find out from those same tests of those same living matrilineal descendants that they, too, have this very same single nucleotide substitution that was found in the Ekaterinburg remains-- even though those same living matrilineal descendants are now known for a fact not to be either carriers or sufferers of the disease?

The answer to this question is critical... because...

If Victoria's living matrilineal descendants can now also be shown to have that same Factor IX nucleotide substitution... but... they are also now known for a fact not to be either carriers or sufferers of the disease... then that could also mean that the nucleotide substitution Dr. Rogaev now claims to have found... is, in actual fact, not the cause of the disease.

... no matter whether it's recessive or not...