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Haemophilia is a genetic disorder which prevents the blood from clotting due to lack of essential clotting factors. These clotting factors are proteins that interact with platelets in the blood to help form clots that plug lacerations. Problems that arise for sufferers of haemophilia are elongated periods of bleeding due to the inabilty to clot, but also haemorrhaging from much more minor injuries and in many cases of sufferers of haemophilia, bleeding can arise with no known cause. There are three types of haemophilia, haemophilia A and haemophilia B and Haemophilia C but the most common is haemophilia A and haemophilia B. Both of them (haemophilia A and haemophilia B) have the same symptons, but different clotting factors and different treaments. 


Types of Haemophilia 

Haemophilia A : Lack of functional clotting factor VIII, an anti-clotting protein which is also known as AHF, anti-haemophilia factor. 

Haemophilia B : Lack of functional clotting factor IX, 

Haemophilia C : Lack of functional cotting factor XI. 

The gene of the haemophilia is carried on the X chromosome which named as sex chromosome. Haemophilia is an X-linked recessive condition, females carry the gene and pass it down the females line in the family, whereas males will have the condition becasue there is no homologous region on the Y chromosome to counteract the effect of the recessive gene [1] and the sex chromosome of male is XY pairing, X always inherited from his mother and Y inherited from his father. So males with haemophilia will pass their Y to their sons, and X with haemophilia to their daughters. Therefore, sons never affected haemophilia by father, always affected from mother's altered gene. However, daughters will affected haemophilia by father's and mother's altered genes. 

Symptoms of Haemophilia

Prolonged bleeding is the main symptons of the haemophilia. Mlid haemophilia, moderate haemophilia, and severe haemopilia are the typical symtons of the haemophilia. They are based on the different level of clotting factors in the blood. Someone who has 5% to 50% of the normal amount of clotting factors belongs to mild haemophilia. Mild haemophilia will not have any signs for years and it will only after wound, surgery, or a dental procedure. Moderate haemophilia is soomeoone who has 1% to 5% of the normal amount of clotting factors. Moderate haemophilia made the new born baby get bruises easily and joint bleeding. However severe haemophilia only has less than 1% of the normal amount of clotting factors. Severe haemophilia are slightly similar to moderate haemophilia but the joint bleeding is more frequent and severe[2]

Treatment of Haemophilia

Recombinant technology and using human plasma can increase the clotting factor concentration. Recombinant technology make recombinant factor products but products do not use human blood as a begining component. Human blood components make plasma-derived products. 

Treatments stop bleeding by raising the patient's clotting factor level for a long time. 

Replacement therapies have proved difficult due to the fact that haemophilia patients develop immunity to Factor VIII and produce antibodies against the protein[3].

History of Haemophilia

The gene for haemophilia runs in the British Royal Family, therefore the gene has been referred to as the 'royal disease'. There has been no cases of haemophilia before Queen Victoria's reign, so it is assumed that the gene mutation occurred in the sperm of Edward Augustus , the Queens mother. Many of Queen Victoria's decedents have suffered from haemophilia with the first case in 1853, Queen Victoria's forth son Prince Leopold. The last Tsar of Russia, Nicolas II, had a son with haemophilia that he inherited from his mother who was Queen Victoria's granddaughter[4][5]


  1. http://www.haemophilia.org.uk/information/Bleeding+Disorders/Haemophilia
  2. Haemophilia - Symptoms - NHS Choices. 2014. Haemophilia - Symptoms - NHS Choices. [ONLINE] Available at: http://www.nhs.uk/Conditions/Haemophilia/Pages/Symptoms.aspx. [Accessed 28 November 2014].
  3. Tuddenham, E. (2016), Platelets are a safe way to deliver factor VIII. After 13 years of preclinical research it is now time for a clinical trial. J Thromb Haemost.
  4. Haemophilia - NHS Choices. 2014. Haemophilia - NHS Choices. [ONLINE] Available at: http://www.nhs.uk/conditions/haemophilia/pages/introduction.aspx. [Accessed 28 November 2014].
  5. Hemophilia A and B « IHTC. 2014. Hemophilia A and B « IHTC. [ONLINE] Available at: http://www.ihtc.org/patient/blood-disorders/bleeding-disorders/hemophilia-a-and-b/. [Accessed 28 November 2014].

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