Hemophilia and Other Blood Disorders

[J_Kendrick]

If they ever check the DNA profile of the heir for the confirmation or otherwise of the alleged condition then so be it. But as we know the imperial lines in Europe suffered now and then form this condition and it given all the facts and on the balance of probability the same is for Alexis.

So it is now popularly believed... but it has never been proved by any scientific laboratory means at all... not in Alexei... and not in any of the other very small number of males in just three generations of Queen Victoria's family line who are now popularly believed to have suffered from the disease.

Without any DNA proof at all that the Empress Alexandra may have been a carrier and her son may have been a sufferer of the disease, the still unproven claim of hemophilia in the Royal family line is, in actual fact, nothing more than unconfirmed palace gossip... gossip that has now been told over and over so many times during the past century that everyone now blindly accepts it as truth without ever once daring to question it... and without any scientific or medical laboratory proof of any sort whatsoever.

It is not just Alexei whose alleged hemophilia is in question.  It is the entire story of the alleged hemophilia in those three short generations from Prince Leopold to Alexei that still must be proved with proper scientific laboratory evidence of that long-suspected faulty X-linked gene.

Without that same laboratory proof, the entire hemophilia story -- right from beginning to end -- will never be anything more, in fact, than the unconfirmed palace gossip that it remains to this very day.

... and this subject rightfully belongs in a thread about hemophilia... not in any threads about claimants.

JK

 

[Alixz]

If they ever check the DNA profile of the heir for the confirmation or otherwise of the alleged condition then so be it. But as we know the imperial lines in Europe suffered now and then form this condition and it given all the facts and on the balance of probability the same is for Alexis.

So it is now popularly believed... but it has never been proved by any scientific laboratory means at all... not in Alexei... and not in any of the other very small number of males in just three generations of Queen Victoria's family line who are now popularly believed to have suffered from the disease.

Without any DNA proof at all that the Empress Alexandra may have been a carrier and her son may have been a sufferer of the disease, the still unproven claim of hemophilia in the Royal family line is, in actual fact, nothing more than unconfirmed palace gossip... gossip that has now been told over and over so many times during the past century that everyone now blindly accepts it as truth without ever once daring to question it... and without any scientific or medical laboratory proof of any sort whatsoever.

It is not just Alexei whose alleged hemophilia is in question.  It is the entire story of the alleged hemophilia in those three short generations from Prince Leopold to Alexei that still must be proved with proper scientific laboratory evidence of that long-suspected faulty X-linked gene.

Without that same laboratory proof, the entire hemophilia story -- right from beginning to end -- will never be anything more, in fact, than the unconfirmed palace gossip that it remains to this very day.

... and this subject rightfully belongs in a thread about hemophilia... not in any threads about claimants.

JK

 

Then prove it!

[J_Kendrick]

Without any DNA proof at all that the Empress Alexandra may have been a carrier and her son may have been a sufferer of the disease, the still unproven claim of hemophilia in the Royal family line is, in actual fact, nothing more than unconfirmed palace gossip...

Then prove it!

Easy.

There is no scientific medical laboratory evidence at all to confirm the alleged existence hemophilia in any member of the Royal family line.  None whatsoever. There is not a single known carrier or a single known sufferer in any of the generations of Victoria's family line that follow after Alexei. Not a one. Today, there are more than 700 living members of Victoria's family line and not a single one of those same living members now shows any evidence at all of being either a carrier or a sufferer of the alleged disease.  Not even one.

Of the almost one thousand known descendants of Victoria and Albert, there are only seven suspected sufferers in just three generations and only six suspected carriers in just two generations following immediately after Victoria... barely even one percent of the entire family line.  Just as soon as it has served its purpose to help explain away both the Russian Revolution and the Spanish Civil War, the still unproven allegation of hemophilia in the Royal family line suddenly vanishes without a trace.

... and so again...

It is now up to the investigators who hold the DNA evidence that is said to identify the remains of the Russian Imperial family to now take those same DNA tests that one last extra step that is still needed to confirm long-suspected existence of a faulty X-Linked gene in those same Romanov remains.  Until that day finally comes when those very same investigators have actually fulfilled that obligation... there is still no proof of any kind whatsoever of the alleged existence of hemophilia in the Royal families of Europe who are descended from Queen Victoria

Until those now very necessary tests for the suspected faulty Factor VIII gene are actually done, the still unproven claim of hemophilia in the Royal family line is now and will continue to be... nothing more than unconfirmed palace gossip.

JK

[Alixz]

What would have been the reason for Prince Leopold to have been said to have hemophilia when he was born?

He was born 7 April 1853 and was the first of the royal family to have been said to have hemophilia.

Ella of Hesse was born in 1864 and Alix in 1872 -neither of these women's futures could have been even guessed at when Leopold was found to have hemophilia.

No one, at least, without a crystal ball!    ;-)

The Spanish and Russian Revolutions were very far in the future when Leopold was born.  So why say that Leopold had hemophilia?  Insurance against any future debacle?  Or did someone say, (50 years before Alexei was born), let's just set up this family for any future problems by saying that hemophilia was the cause.

[J_Kendrick]

What would have been the reason for Prince Leopold to have been said to have hemophilia when he was born?

Ah, yes... well... The key words in that sentence are: "said to have".

Those words are not a statement of fact. That same phrase -- the words "said to have" -- falls under the very definition of the word gossip: easy or unconstrained talk about persons or social events.

Born in 1853, Leopold was not identified publicly as having suffered from a blood disorder until September of 1882... when he was already 29 years old. That is a full nine years after his three-year-old nephew Friedrich (Frittie) had died after falling 20 feet out of a window in 1873.  That also then means that his sister Alice (both Frittie and Empress Alexandra's mother) cannot have been publicly named as a carrier until a full four years after her death from Diptheria in 1878... and Victoria cannot have been publicly named for the first time as the suspected prime carrier of an X-linked disease until the 45th year of her reign... when she was already 63.

... and here is the biggest problem with Leopold's alleged diagnosis...

When he was 13 years old, Leopold started having epileptic-like fits during his most serious episodes of bleeding and fever. Having the kind of seizures that Leopold did during his most severe bleeding episodes is not a symptom of hemophilia. It is a symptom of thrombocytopenia in episodes of hemolytic/aplastic crisis, which is not caused by a Factor VIII clotting deficiency. It is caused by a dangerously low platelet count... which is not hemophilia.

If you have any more questions, I'll make it easy for you. ;-)  Read my paper on this subject in the September 2004 issue of the American Journal of Hematology. Please see: http://www3.interscience.wiley.com/cgi-bin/abstract/109593773/ABSTRACT

JK

[Alixz]

Just who would benefit from creating "court gossip" that the royal family had hemophilia?

Any blood disease, hemophilia or not, would have been a horrible pronouncement on any of the children of a Royal House let alone the heirs as in Russia and Spain.  Was this other diagnosis even heard of in the 1800s?  Medicine was a long way then from what it is now.

And I still want to know why you believe it incumbent on those who have the DNA material to prove your theory for you?

Doesn't it usually work that the person who is the unbeliever has to do the proving?  As did Richard Schweitzer when he had to accept or reject the conclusions of the DNA tests on Anna Anderson?  He rejected the conclusions, but it was now his turn to prove that the original DNA tests were faulty, not the job of those who held the material and had already tested in so many times?

As FA said earlier why doesn't someone just put up the $1000 and get that tooth tested?  $1000 seems small change if you can change every history book in the world.

[J_Kendrick]

 I still want to know why you believe it incumbent on those who have the DNA material to prove your theory for you?

It is not "my theory" -- as you put it -- that I am saying they should prove.

It is the still unproven medical claim of history that they are now obliged to confirm.

Once again...

To this very day, there is no laboratory proof whatsoever to confirm the identity of the long-suspected blood disease that is claimed to have existed in just three short generations of Victoria's family line.

Now that the Ekaterinburg remains are identified, it is incumbent upon those same DNA investigators to finish the job properly and to confirm the presence of that long-suspected faulty X-linked gene once and for all.

After all...

If you, yourself, had been told that there was evidence of a possible genetic blood disorder in your own family line... then would you not want to ensure that every single laboratory test that is possible was done to confirm the identity of that disease?

Or...

Would you just be perfectly satisfied to accept what somebody else had told you they suspected the blood disease in your family line might be... without ever daring to question what they had told you... and without ever having had any proper scientific medical laboratory testing done at all to confirm those same suspicions?

I very much doubt it.

The tests must be done.  Otherwise, the hemophilia story as it stands will continue to be nothing more than the historically popular hearsay that it is to this day.  Nothing more than unconfirmed palace gossip.

JK

[kadang]

 I still want to know why you believe it incumbent on those who have the DNA material to prove your theory for you?

It is not "my theory" -- as you put it -- that I am saying they should prove.

It is the still unproven medical claim of history that they are now obliged to confirm.

Now that the Ekaterinburg remains are identified, it is incumbent upon those same DNA investigators to finish the job properly and to confirm the presence of that long-suspected faulty X-linked gene once and for all.

JK

I agree with Alixz (and others) here - Mr. Kendrick, it seems as if you are constantly moving the goal post. There is now the strongest evidence available that all members of the family are identified. There is even a Y-STR result from living Romanov relatives to confirm the results.

So, it looks like you have "lost" the game, and now demand that additional testing must occur to "prove" that hemophilia was present. In other words, let's now play "best two out of three." Oh, and if the scientists decide not to play, then you can declare yourself the winner.

If you really want to be taken seriously, simply provide an authentic DNA test confirming the Y-STR, mtDNA, and proper STRs from Tammet compared to Nicholas and Alexandra. THEN you may generate some support to confirm the hemophilia testing. Better still, pony up the extra cash to have Tammet's DNA tested for thrombocytopenia.

To quote someone on this board, "The tests must be done."

Otherwise, your rants about the need for additional testing remind me of the line from Macbeth - full of sound and fury, signifying nothing.

[J_Kendrick]

I agree with Alixz (and others) here - Mr. Kendrick, it seems as if you are constantly moving the goal post. There is now the strongest evidence available that all members of the family are identified. There is even a Y-STR result from living Romanov relatives to confirm the results.

Let's get one thing perfectly straight.

I am not talking here about Tammet... nor any other claimant, for that matter.

I am only talking here about the historically popular but still totally unproven claim that Alexei had suffered from hemophilia.

Given that, in your words, "There is now the strongest evidence available that all members of the family are identified"... It is now entirely incumbent upon those very same researchers who have identified those same Ekaterinburg remains to complete their investigation by now testing those same remains in the laboratory to finally confirm... once and for all... whether or not Alexandra actually was a carrier of a faulty X-linked gene... and whether or not her son Alexei actually did inherit that same long-suspected faulty X-linked gene.

I am not the one, as you claim here, who keeps moving the goal posts.  I am talking about the issue of hemophilia here... and only about the issue of hemophilia... and nothing else.  This is the very reason why I had deliberately said several times when I first entered this conversation that this discussion rightfully belongs in a thread about hemophilia... and not in a thread about any of the claimants.

I must ask...  Why is everyone now so very unbelievably determined to deliberately avoid actually doing the tests on those same identified Ekaterinburg remains for the now very necessary evidence of that long-suspected faulty X-linked gene?

I'm really very surprised.  I would have imagined that all of those people who regularly follow the Romanov story would eagerly have jumped at the chance to actually find that faulty gene and finally confirm all of their pet theories about Alexei's medical history in which they so fervently believe.

So, what is everyone so afraid of?  Why is everyone now trying so hard to avoid actually having to do the tests on those identified Ekaterinburg remains for that faulty X-linked gene?

Is everyone afraid that they might not actually find it?  Is everyone afraid that the tests might show that there are no faults at all in Alexandra's Factor VIII gene?  Is everyone afraid that the tests might prove that the Tsarevich Alexei was not a hemophiliac after all?

Do the tests.  That's the only way we'll ever know the truth.

JK

[Forum Admin]

Wow, it is an amazing turn of events, I'm glad I'm sitting down!

I actually have to defend JK on this one  (seriously, mark this down in your calendar)...

He really is NOT talking about the identity of the remains.  He IS honestly, talking about simply testing the Alexandra and OTMAA remains for the genetic marker for Haemophilia, nothing more.  I don't see the need to be as pressing as he does, BUT, he has the point that it would be of some small scientific interest to have the conclusive genetic proof...

[J_Kendrick]

Wow, it is an amazing turn of events, I'm glad I'm sitting down!

I actually have to defend JK on this one  (seriously, mark this down in your calendar)...

He really is NOT talking about the identity of the remains.  He IS honestly, talking about simply testing the Alexandra and OTMAA remains for the genetic marker for Haemophilia, nothing more.  I don't see the need to be as pressing as he does, BUT, he has the point that it would be of some small scientific interest to have the conclusive genetic proof...

I'm glad I'm sitting down, too.

I may never recover from the shock!

Bolshoi Spasiba, Rob! ;-)

JK

[Alixz]

I would say that no one is afraid.  I would say that no one feels the need to do anymore testing.  Those who have the remains have no question in their minds and so why would they test?

Again, if Mr. Kendrick is so sure of the need to have the testing done, then why doesn't he apply to the appropriate agencies and have the testing done himself?  Is it because he is afraid that his long held beliefs will be proven to be wrong?

Again, I ask, why would it be incumbent upon those who have no doubts to test their own information?  I feel it should be incumbent upon those who hold doubts to have the testing done.  This could have been solved to every one's satisfaction, including Mr. Kendrick's, if he would just do the leg work and the phone work and the fax work himself and ask those who hold the remains to test (at Mr. Kendrick's own expense since he is so sure that the hemophilia reports are wrong) those remains for the genes and get his answers.

Personally, I have no doubts.  I see no conspiracy. And since what is at stake is only the reporting of history (which is almost always biased) I would not be bothered with any testing, especially if I held the remains and knew that they were the remains of the Imperial Family.  In the "dust bin" of history that is all that truly matters.


"To give an accurate description of what has never occurred is not merely the proper occupation of the historian, but the inalienable privilege of any man of parts and culture."
Oscar Wilde (1856 - 1900) Anglo-Irish "playwright, novelist"
"Gilbert, in ""The Critic as Artist,"" pt. 1 (published in Intentions, 1891

[J_Kendrick]

Those who have the remains have no question in their minds and so why would they test?

So you can read their minds, can you?  I'm impressed. ;-)

Why would they do the test?

How about this for a reason?

... Because the Moscow prosecutor Vladimir Soloviev had publicly committed them to doing the tests for the suspected faulty Factor VIII Gene when this latest DNA investigation was started two summers ago.

... and they have yet to fulfil that commitment.

Again, if Mr. Kendrick is so sure of the need to have the testing done, then why doesn't he apply to the appropriate agencies and have the testing done himself?

I'm not the one with the bones.  They are.  I'm not the one who has been who has been publicly committed by Moscow's head of the Romanov investigation Vladimir Soloviev to complete that same testing for the suspected faulty gene. They are.

 Is it because he is afraid that his long held beliefs will be proven to be wrong?

Oh, Come on... ;-)

If I were afraid of what the tests for that long-suspected faulty Factor VIII gene are actually going to show when they are finally completed ... would I really be here calling for the tests to be done?

Not very likely.

I'm fully confident that those same Factor VIII tests on the Romanov remains are certain to produce a very different end result than the majority now expects. ;-)

JK

[Alixz]

I did a little research of my own on platelet disorders:

http://emedicine.medscape.com/article/201722-overview

Autoimmune thrombocytopenias
Immune thrombocytopenic purpura1,2,3

Immune thrombocytopenic purpura (ITP) is one of the most common autoimmune disorders. It occurs in 2 distinct clinical types, an acute self-limiting form observed almost exclusively in children (5 cases per 100,000 persons), and a chronic form, observed mostly in adults (3-5 cases per 100,000 persons) and rarely in children.

Acute ITP is a disease that occurs exclusively in children. It affects both sexes equally and has a peak incidence in children aged 3-5 years.  Most patients have a history of an antecedent acute viral syndrome.

The onset is sudden, with symptoms and signs depending on the platelet count. Bleeding is usually mild, unless the platelet count drops below 20,000/µL. With platelet counts from 20,000/µL to 50,000/µL, petechiae and ecchymoses are observed following mild trauma. With platelet counts less than 10,000/µL, generalized petechiae, ecchymoses, and mucosal bleeding occur. With platelet counts less than 2000/µL, widespread ecchymoses, hemorrhagic bullae, and retinal hemorrhage occur.

Chronic ITP4,5,6

This condition is typically observed in adults aged 20-40 years. It has an insidious onset, and a history of an antecedent infection need not be present. Unlike childhood ITP, chronic ITP is more common in females than in males. As in childhood ITP, the bleeding manifestations depend on the platelet count.

Reasons that Alexei did not have ITP:

Acute version equally effects both boys and girls.

Chronic version in more common in females that in males.

Alexei had none of these external bleeding symptoms  "widespread ecchymoses, hemorrhagic bullae, and retinal hemorrhage"  (Believe me, you don't want to take a look at pictures of these symptoms, they are horrific.)

Pathophysiology
Platelet disorders lead to defects in primary hemostasis and have signs and symptoms different from coagulation factor deficiencies (disorders of secondary hemostasis). The body's reaction to vessel wall injury is rapid adhesion of platelets to the subendothelium. The initial hemostatic plug, composed primarily of platelets, is stabilized further by a fibrin mesh generated in secondary hemostasis. The arrest of bleeding in a superficial wound, such as the bleeding time wound, almost exclusively results from the primary hemostatic plug.

Hence, primary hemostatic disorders are characterized by prolonged bleeding time, and the characteristic physical examination findings are petechiae and purpura  In comparison, defects in secondary hemostasis exhibit delayed deep bleeding (eg, muscles and joints) and the characteristic physical examination finding is hemarthrosis. Hemarthrosis and muscle hematomas are not present in primary hemostatic disorders   (But they are in hemophilia.)

petechiae and purpura  (Anybody watch CSI -   Petechial Hemorrhaging?)  petechiae are red spots just under the skin and purpura are small "bumps" of blood that can be palpated (that is felt and moved by the doctor's hands)

[Alixz]

http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_signs.html



What Are the Signs and Symptoms of Hemophilia?
The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.

Excessive Bleeding
The extent of bleeding depends on the type and severity of the hemophilia. Children who have mild hemophilia may not have symptoms unless they have excessive bleeding from a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed heavily after circumcision.

Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding).

Signs of excessive external bleeding include:

Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
Nosebleeds for no obvious reason
Heavy bleeding from a minor cut
Bleeding from a cut that resumes after stopping for a short time
Signs of internal bleeding include blood in the urine (from bleeding in the kidneys or bladder) and blood in the stool (from bleeding in the intestines or stomach).

Bleeding in the Joints
Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding can occur without obvious injury.

At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.

Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't quickly treated can permanently damage the joint.

Bleeding in the Brain
Internal bleeding in the brain is a very serious complication of hemophilia that can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:

Long-lasting, painful headaches or neck pain or stiffness
Repeated vomiting
Sleepiness or changes in behavior
Sudden weakness or clumsiness of the arms or legs or problems walking
Double vision
Convulsions or seizures


What is the difference between hemophilia and thrombotic thrombocytopenic purpura?

http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2663608


Among the autoimmune diseases that affect human blood, hemolytic anemia and autoimmune thrombocytopenia are the most frequent and the best known from a diagnostic and therapeutic point of view. More seldom, autoantibodies may develop against components of the hemostasis system. Some of them neutralize proteins involved in the regulation of thrombus formation, causing acquired thrombotic tendencies due to autoantibodies inactivating naturally occurring anticoagulants such as protein C and protein S,1,2 or the von Willebrand factor cleaving protease ADAMTS13.3,4 On the other hand, autoantibodies directed against procoagulant factors cause a bleeding tendency, such as acquired hemophilia A due to the development of anti-factor VIII (FVIII) autoantibodies (autoantibodies against procoagulant factors other than FVIII are rare).5

Acquired hemophilia has a yearly incidence of no more than one case per million in the general population, and affects not only patients with pre-existing autoimmune diseases (systemic lupus erythematosus, rheumatoid arthritis, myasthenia, Sjogren syndrome, hyperthyroidism and others) but also (and more frequently) previously healthy people. Typically, there are two peaks of age of onset of acquired hemophilia: in the young adult, mainly in women who develop this complication in the post-partum period; and in the elderly, usually with no underlying disease.5

Acquired hemophilia is much more clinically severe than congenital hemophilia, and is more difficult to diagnose, also because cases are seen in an array of clinical settings that are not usually equipped to tackle them. Even the specialized center, however, sees a very limited number of cases, so that is difficult to acquire a truly wide experience in acquired hemophilia. It is not surprising, therefore, that nine experts from three continents chose to put together their experiences in an article meant to provide consensus recommendations on the diagnosis and treatment of acquired hemophilia.6