Dear Steemians , 

Why Haemophilia is the Royal Disease ? 

During the late 19th and 20th centuries the haemophilia was conclusively figured out . This was the time where the one part of the Royal family marries the another Royal family even though no matter what the look like, behavior they have or psychology they prefer. On the 7th of april , this was the time when Britain Queen Victoria gave birth to her 8th child Prince Leopold, Duke of Albany . There was no any mutated sign or symptoms at birth but during the past 30 years , he has some bruise , looked different , a little clumsy type , swollen legs and even some blood in the joint (haemarthroses). He was just left alone like a prisoner . He had a spontaneous or denovo mutation and  was the first one in England to be diagnosed as haemophilic patient . At the end of 30 years, he died of small injury or minor fall which was profusely bleeding and the bleeding lead to the brain stroke . 

A tragic consequences occurred when the bloodline of  Queen Victoria was tainted with the genetic defects .  Her daughter , 2 out of 5 , Princess Alice and Princess Beatrice were the carriers who passed on this mutation to various Royal families out of the continent including the Royal families of the Spain , Russia and Germany . The history tells that the probability of bloodline of the Victoria was infected by the Father of Victoria Prince Edward, Duke of Kent 's mother lover . Victoria's mother Duchess of Kent , had no probabilty of the haemophila in the family history . 

Fig : Family tree of the Queen Victoria   (credit)

Queen Victoria's grandson Prince Friedrich of Hene and by Rhino  who was only 2 years old died of excessive bleeding and bleeding into brain from simple injury which confirms the diagnosis of haemophila lately . 

Queen Victoria's favourite grand-daughter Alexandra Feodorovna married to the Grand Duke Prince Nicholas of Russia . They were too eager for the son cause that time the throne can be only taken by the son . The couple's first child happened to be daughter Olga in 15th November 1895 , second Tatiana 10th June 1897 , third Maria 26th June 1899 , fourth Anastasia 18th June 1901. They loosed their hope and after the 3 years passed, the happened to give birth to son Alexei  Nikolaevich 12th August 1904. The moment was joyous and happy . As the time passed , the son happened to suffer from haemophilia cause of the clotting blood in joints . After this came known to the Russian Prince , there was some revolution stage in Russia and murder of Alexei took place .

This Incident of the Prince Alfonse of Spain who was a 19 years old was that he was into the good looks of the Victoria's another grand-daughter , Victoria Eugenie Of Battenburg . She became a queen after the marriage. Even after the consequenses of the family history of the Queen of Spain , they bought a new son Alfonseto who also happened to be a victim of Haemophila . The Alfonse could not forgive the Eugenie .

So What's the real cause that only affects the male person ?

This term Haemophilia was termed in greek as [haemo : Blood  ;  philia : Love or affection] .There is no clotting of the blood which is hard to stop or haematosis is hard to conduct . It is generally a hereditary condition which is transferred from the mother to the child during the birth . In this condition,  the males are highly affected than the females because it is just only linked with the X chromosome of the gene . The people loves to bleed . 

Human has mainly two chromosome . The X and Y  or (XY) denote the male whereas the X and X or (XX) denote the female. The females are poorly affected cause the affected X gene lies dormant and is suppressed by the healthy X gene .  Whereas, in males , the affected X linked chromosome is the only X chromosome in the male . 

Fig : Sex and Disease determination Chart  (credit) 

So, Queen Victoria was a carrier for the Heamophilia in the Royal family which made a drastic and tragic consequences in the late 19th and 20th centuries in the Great Britain, Spain Russia and even Germany . 

What's Haemophilic Patient Problem ? 

Ok , If you have a small cut or damaged tissue which leads to leaking of blood , there is the immediate vasoconstriction in the blood vessels and there is less blood flow which is limited . The platelets are adherent to the cut area which more and more attract other platelets and forms a plug which is generally called the Primary haemostasis. 

Fig: Activation of platelets to cut   (credit)

There is a activation of a coagulation cascade which stats within minute that helps to clot the blood to prevent the excessive blood loss . The clotting factor plays a great role . These are only a protein that is produced by liver in presence of Vitamin K . The clotting factors namely (I:Fibrinogen, II:Prothrombin , III:Thromboplastin,IV:Calcium ions,V:Labile factor,VII:Stable factor,VIII:Anti-haemophilic factor,IX:Christmas factor or Plasma Thromboplastin Component,X:Stuart power factor,XI:Plasma Thromboplastin antecedent,XII:Hagemen factor,XIII:Fibrin Stabilizing factor). 

The coagulation cascade has some important keys to understand haemophilia . 

Fig: Coagulation Cascade [XII refers to inactivated XII whereas XIIa refers to activated XII]   (credit)  

The above Fibrin attach with the platelets and form a meshwork or meshes which is called Secondary Haemostasis. This preety hard and strong clot at the sit of damage of injury or cut . 

The above factor VIII is generally stabilized by VWF (i.e Von-Willibrand Factor) .When this factor is deficient, there is occurence of haemophilia and factor VIII breaks faster enough to become defecient . 

Haemophilia is a condition of blood disorder where the clotting factors are absent or the coagulation factor are deficient . 

Its mainly the inherited deficient of coagulation factor VIII - Haemophilia A  and factor IX - Haemophilia B .

Cause of Acquired Haemophilia : 

• Liver Failure (I,II,V,VII,VIII,IX,X,XI,XIII)
• Vitamine K deficient 
• Auto-immunity to the clotting factor 
• Disseminated Intravascular Congestion ( This condition consumes the clotting factor )

Signs and Symptoms :

• Easy Bruising (Ecchymosis)
• Haematoma (Collection of blood outside of blood vessel often in muscels) 
• Prolonged Bleeding 
• Haemturia (Blood in urine)
• Oozing after tooth extraction 
• Gastro-intestinal Bleeding
• Haemarthrosis( BLeeding Into Joint spaces)
• Epistaxis( Bleeding form the Nose) 

Fig: Sign and symptoms of Haemophilia  (credit)

Mainly the Dangerous symptoms is Bleeding into the Brain which may lead to Brain Stroke , Increased Intracranial Pressure . So , The severity of the symptoms mainly depends on the strength of mutation. 

Diagnosis: 

Lab test  

Counting of the plateletes 

 It shows normal range and values in haemophilia 

Prothrombin time : (normal)

There is the extrinsic or the common pathway :  which gives the result of factor VII,X,V,II,I

Partial thromboplastic time 

Done for the intrinsic or the common pathway : which shows the result of factor XII,XII,IX,X,V,II,I

For the confirmation result , 

Test for Specific factors activities and the mutation testing are carried out .

So The Treatment goes like : 

Injection of the missing or the deficient clotting factor , if sever deficiency like absent or low clotting factors, there is very low or less effective . Only carried to mild deficiency 

Using some Desmopressin like drugs can cure the mild form of Haemophilia which also helps in stimulating the production of Von Willibrand Factor (VWF) .

So, This is all about the Haemophilia; The Royal Disease which had outburst in the Royal Family of Queen Victoria  Keep Smiling Steemians, 

With love , 

Khatisam4