Want to know more? Read our facts about Hemophilia.


Hemophilia is known as a bleeding disorder. It is diagnosed by blood tests that check for factor VIII in an individual’s blood. The characteristics of this disease are poor blood clotting and continual bleeding with injuries.

Generally, when someone is injured and they are bleeding, clotting factors in the blood (among which factor VIII is included) help to change the blood from a liquid to a solid so that the flow of blood will stop and they will not lose any more blood.

When someone has hemophilia, the essential factor VIII clotting is impaired or missing from their blood. This excessive bleeding is usually not a problem with small wounds and bruises, but can be very serious with larger wounds, bruises, or necessary surgical procedures.


Bruises and bleeding are symptoms of the disease, but there are some more specific symptoms as well. Some of those symptoms include:

  • Spontaneous bleeding
  • Bleeding into joints and associated pain and swelling
  • Gastrointestinal tract and urinary tract hemorrhage
  • Blood in the urine or stool
  • Prolonged bleeding from cuts, tooth extraction and surgery


The incidence of hemophilia is about 1:7,500 live male births and 1:25,000,000 live female births. There are about 17,000 people living with hemophilia in the United States. This very small incidence of the disease may be due to the fact that there is a test to identify carriers of the disease. This test, coupled with genetic counseling, helps people of carrier or disease status make more informed reproductive choices. In addition, there is also a prenatal test available to determine whether or not a fetus is going to be affected by the disease. Though the disease has an x-linked inheritance pattern, as many as 1/3 of the people with hemophilia may have gotten it from a spontaneous mutation of the factor VIII clotting gene on their X-chromosome.

The full blown version of factor VIII deficiency is very rare in women, and would only result from having a father that is affected and a mother that is a carrier, or having two affected parents. Even though it is extremely uncommon for a woman to have full blown hemophilia, may women with carrier status experience mild to moderate symptoms throughout their lives, but much milder than their affected male counterparts who have a mutated clotting factor VIII gene and no normal gene to mask its effects.


The severity of the disease varies from person to person. A more severely affected person will display symptoms of the bleeding disorder almost from birth; doctors usually discover it when the infant bleeds excessively from a circumcision. When infants become mobile, they are often clumsy and their falls lead to excessive bruising and bleeding; hallmark signs of hemophilia. On the other hand, a more mild case of hemophilia may not be discovered until later in life. These milder cases are usually discovered as a result or trauma or surgery.


Treatment is aimed at replacing the deficient clotting factor. This done via infusions of concentrates containing the needed factor. Many patients are on a home infusion program whereby they self-infuse the clotting factor concentrate when they bleed. This ensures prompt treatment, and gives them greater independence and more control over managing their disorder. The costs of treating severe hemophilia are high, sometimes $150,000 to $600,000 per year or more. Early recognition and prompt treatment of bleeds can help keep these costs down as well as reduce disability.


Although transfusions and plasma treatments are available, there are still complications that come with having hemophilia. Chronic joint deformities can result from continued bleeding into the joints, but generally an orthopedic specialist can manage this. Some people may also develop antibodies to transfused factor VIII in plasma. This makes the transfusions ineffective and requires them to be administered much more often and in much higher doses. Hemophilia patients are also much more susceptible to blood-borne illnesses due to the fact that they receive blood products very frequently. Since the 1980s, however, the incidence of blood-borne illnesses in blood products has dramatically dropped and is almost unheard of now. And finally, death can be a major complication of the disease, be it from blood loss or from bleeding internally within the brain or other body organs.

History (the Royal Family)

Hemophilia has affected the Royal Families of Europe for the last few centuries. The origins of the disease in the family have been traced back to Queen Victoria, though it has been shown that neither of her parents were affected or were carriers. Statistics now show a 33% spontaneous mutation of hemophilia that may have caused this.

It used to be the trend that royalty had to marry other royalty, which was very conducive to keeping the disease within the Royal Family. With the more relaxed rules of the Royal Family in the current time, the disease hasn’t been seen in almost 100 years in the family.

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