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Page history last edited by Helen B 7 years, 7 months ago


                                                                                               By Helen




                                                   This diagram shows how hemophilia is passed down from generation to generation. 



What is a genetic disorder?


A genetic disorder is an illness caused by abnormalities in genes or chromosomes. Many disorders are very rare and affect one in thousands of people. Some diseases like cancer are caused by a mutation in a gene or a group of genes in the cell of an individual. Some mutations can occur randomly or due to an environmental exposure such as cigarette smoke. Genetic disorders are hereditary.That is where a mutated gene is passed down through a family and each generation of children.  



What is haemophilia?


Hemophilia is the genetic disorder that impairs the body's ability to control clotting of the blood. People who have hemophilia don't produce enough Factor VII or IX depending on what type of hemophilia you have.  Which means that if you have a cut it is harder for your body to form a clot. 


History of Hemophilia:


Hemophilia is also spelled haemophilia in the UK. Hemophilia can be mild, moderate, or severe depending on how much clotting factor is in your blood. Hemophilia is usually inherited. Rarely hemophilia can be acquired, which means that you are not born with it but develop it during your life time. This can happen if antibiotics form in your body and attack the clotting factors in your blood stream. The disorder is associated to old age and can affect pregnancy. Queen Victoria was a carrier of Hemophilia and passed it onto to her son Leopold and through several of her daughters. Hemophilia is also known as the royal disease.


General Information:                                                                                                   


There are two types of Hemophilia, Hemophilia A and Hemophilia B. They are almost clinically the same. Hemophilia A is caused by a deficiency of VII and hemophilia B is caused by deficiency IX. They are both associated with spontaneous bleeding into joints and muscle. It is also associated with external and internal bleeding after an injury or surgery. After many bleeding episodes, permanent damage may be caused to the joints and muscles, especially ankles, knees, and elbows. Approximately 1 in 5,000 males are born with Hemophilia A and every 1 in 30,000 with Hemophilia B. Hemophilia affects any race or origin. Hemophilia symptoms vary, depending on the degree of blood clotting factor defiancey.


There are three levels of Hemophilia according to the level of clotting factor amounts in the blood. 

  • Above 5% - mild hemophilia
  • 1% to 5% - moderate hemophilia
  • Less than 1% - severe hemophilia                                                                                                                          



People with mild hemophilia may not know that they have it until a problem occurs where skin or tissue is wounded, such as a dental procedure. Those who have moderate hemophilia is easily noticeableChildren with it may bruise easily and may experience internal bleeding symptoms, especially around joints after a fall. In severe hemophilia the symptoms are very similar to moderate hemophilia. A child with sever hemophilia will bleed for no reason (referred to as spontaneous bleeding). Children also bruise for no reason. Parents are sometimes suspected of hitting their children because of the unexplained bruising. 



Symptoms of hemophilia type bleeding may include:

  • Several large or deep bruises
  • Joint pain or swelling
  • Unexplained bleeding or bruising                                                                                                                                 
  • Blood in feces (stools)
  • Blood in urine
  • Unexplained nosebleeds
  • Unexplained gum bleeding
  • Tightness in the joints

Intracranial Hemorrhage:


A intracranial hemorrhage is bleeding within the brain. About 1 in every 30 person with hemophilia will have an intracranial hemorrhage at least once. They should be treated by medical care immediately. A blow to the head might cause a bleed.


Symptoms of intracranial hemorrhage include:

  • A bad headache
  • Vomiting
  • Confusion
  • Fitting (Convulsion)
  • Loss of balance
  • Slurred speech, or other speaking difficulties
  • Stiff neck
  • Vision problems
  • Loss of coordination
  • Some of the facial muscles do not work (sometimes all of them)


 Treatment: The main treatment for hemophilia is called replacement therapy. In replacement therapy, clotting factor VIII (for hemophilia A) or for IX (for hemophilia B) are slowly dripped or injected into the vein. These infusions help replace the clotting factor that is missing or low.  


On demand - giving treatment to stop prolonged bleeding when it occurs. This is more common in the management of patients with mild hemophilia.


Preventative treatment (prophylaxis) - medication to prevent bleeding episodes, and subsequent complications, such as joint and/or muscle damage. More commonly used for patients with moderate or severe hemophilia.


Complications of Replacement Therapy

Complications of replacement therapy include: 

  • Developing antibodies (proteins) that attack the clotting factor
  • Developing viral infections from human clotting factors
  • Damage to joints, muscles, or other parts of the body resulting from delays in treatment


Other Types of Treatment:


Desmopressin: Desmopressin (DDAVP) is a man-made hormone used to treat people who have mild-moderate hemophilia. It is not to be used for people with severe hemophilia A or hemophilia B. DDAVP stimulates the release of stored VIII and it also increases the level of protein in the blood. DDAVP is usually given by injection or a nasal spray.




Antifibrinolytic medicines may be used with replacement therapy. They may given as pills. They help keep blood clots from breaking down. 


Gene Therapy: 


Gene therapy is an experimental technique that uses genes to prevent or treat disease. In the future this technique will in enable doctors to insert a gene into a patients cells instead of using drugs or surgery. 

 Researchers are testing several approaches to gene therapy, including: 

  • Replacing a mutated gene that causes disease with a healthy copy of the gene.

  • Inactivating, or “knocking out,” a mutated gene that is functioning improperly.

  • Introducing a new gene into the body to help fight a disease.


Researchers are trying to find ways to correct the faulty genes that cause hemophilia. Gene therapy hasn't yet developed to the point that it is an accepted treatment for hemophilia but researchers continue to test in clinical trials. 




In 2006 more than 1000 soliders from Iraq had been injected with Recombinant Activated Factor VII, which is a blood-coagulating drug. The soldiers could now be exposed to a risk of strokes, heart attacks, and even deaths. There had been much controversy with this because the year before the Food and Drug Administration warned the people doing the injections, that injecting patients with normal blood could cause strokes and heart attacks. The researchers published a study in January blaming forty three deaths on clots that developed after the injecting. "It's a completely irresponsible and inappropriate use of a very, very dangerous drug," said Dr. Jawed Fareed, director of the hemostasis and thrombosis research program at Loyola University in Chicago and a specialist in blood-clotting and blood-thinning medications.


This is what happens when a bleed happens in the joint.






















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