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Hemophilia

What is Hemophilia?

Hemophilia is an inherited disorder that you are born with. In normal blood, proteins called clotting factors work together to form a clot when there is bleeding. A person with hemophilia lacks or doesn’t have enough of a certain clotting factor so the blood can’t make a clot.

Hemophilia can be mild, moderate, or severe depending on the amount of clotting factor a person has in their blood:

  • Mild – factor level of 6%-50%
  • Moderate – factor level of 1%-5%
  • Severe – factor level of less than 1%

Someone with hemophilia doesn’t bleed faster, they just bleed longer. Bleeding may happen after an injury or surgery, or for no reason at all (called a spontaneous bleed).

Types of Hemophilia

Hemophilia A is also called Factor VIII(8) deficiency or Classic Hemophilia.

  • The most common type of hemophilia
  • Affects about 1 in 5,000 male births
  • Females can also have hemophilia A

Hemophilia B is also called Factor IX(9) deficiency or Christmas Disease.

  • Affects about 1 in 25,000 male births
  • Females can also have hemophilia B

Hemophilia C is also called Factor XI (11) deficiency.

What is Acquired Hemophilia? Acquired hemophilia is an ultra-rare autoimmune disorder where patients have normal clotting throughout their lives but then the body starts attacking their factor VIII (8). Around half of acquired hemophilia cases are considered idiopathic, meaning there is no known cause. It usually affects older people, as well as women who have recently given birth. Acquired hemophilia can be caused by other underlying conditions that involve the immune system, like cancer, other autoimmune diseases (examples: rheumatoid arthritis, ulcerative colitis, and psoriasis), certain medications, or pregnancy.

Current and Future Treatments for Hemophilia

Although there is currently no cure for hemophilia, there are a lot of treatments to prevent and/or stop bleeding. These treatments have improved significantly in the past several decades. You and your doctor (hematologist) will talk about the treatment plan and medication that is right for you.

Clotting Factor Replacements are medications that replace the factor needed so that the blood can clot correctly. Treatment is infused (given directly into a vein or in a port).

  • Prophylactically – infusing factor on a regular schedule to prevent bleeding from happening.
  • On-Demand – infusing factor during a bleed to make it stop.

Non-Factor Replacement Therapy is a medication that does not specifically replace the clotting factor and is called a bispecific monoclonal antibody.

  • This is a prophylactic therapy to prevent bleeding from happening.
  • Given as a shot rather than an infusion.
  • This treatment is only for hemophilia A, with and without an inhibitor.

Other Medications that Stop Bleeding

  • DDAVP – This is a medication that triggers the body to raise the factor VIII (8) level in the blood. It can be given as a shot, into a vein, or as a nasal spray.
  • Tranexamic Acid or Aminocaproic Acid – These medications are used alongside factor concentrates or DDAVP. They do not stop bleeding, they work by preventing the breakdown of clots and can be administered as a pill or liquid.

The Future of Treatment for Hemophilia

Research is being done to produce new treatment options including gene therapy.

Complications in Hemophilia

People with hemophilia work hard to prevent bleeding. They may infuse clotting factor on a regular schedule, avoid activities that can cause injury, and wear protective equipment when playing sports (helmets, elbow pads, kneed pads). But sometimes bleeds just happen (spontaneous bleed), you may get an injury or you may have to have a minor or major procedure or surgery.

Bleeding in hemophilia can be very serious and lead to life-long problems and even death.

A serious problem for people with hemophilia is bleeding inside the body. Bleeding inside the body can happen for no reason (spontaneous) or because of an injury.

Types of Bleeds

Joint Bleeds

  • The most common joints where bleeding happens are the shoulders, elbows, hips, knees, and ankles. 
  • Even just one bleed into a joint can cause damage. When there are many bleeds into a joint, the damage gets worse each time. 
  • Complications of joint bleeds include:
    • Hemophilic arthropathy – a specific type of arthritis caused by joint bleeds
    • Chronic pain
    • Limited joint movement
    • May require surgery such as joint replacement

Muscle Bleeds

  • Muscle bleeds can happen in any muscle – large muscle groups like the hip muscles and smaller muscles like those in the arm or leg.
  • Complications of muscle bleeds include:
    • Major blood loss
    • Muscle damage that may require surgery or in the worst outcome amputation

Other potential bleeds can include: brain bleeds, gastrointestinal bleeds, eye bleeds, throat bleeds.

Resources:
Hemophilia of Georgia – What is Hemophilia
Hemophilia of Georgia Handbook 

Inhibitors

Inhibitors are one of the most serious complications for people with hemophilia. An inhibitor is caused when the body’s immune system thinks that infused clotting factor is a foreign substance.

  • The immune system forms antibodies that destroy the clotting factor which means that bleeding doesn’t stop.
  • Inhibitor development is most common in hemophilia A, but can also occur in hemophilia B.
  • Inhibitors can develop at any time. However, they most often show up within the first 50 times a person uses factor concentrate.

Resources:
CDC Inhibitor Fact Sheet
HFA Inhibitors

A Brief History of Hemophilia

The problem of excessive bleeding has been known for millennia, and is mentioned in the Jewish Talmud and the New Testament. In 1803, John Conrad Otto, a Philadelphia physician, first described a hereditary bleeding disorder affecting males; he called them “bleeders.”  The term “haemorrhaphilia” — which eventually became “hemophilia” — was first used in 1828 by  Friedrich Hopff, a Swedish medical student. It was not until 1947 that “hemophilia” was found to be two separate diseases, hemophilia A and hemophilia B.

The Royal Disease: Although it is a relatively rare disorder, hemophilia played a significant role in the history of Europe, and became known as “the royal disease.”  England’s Queen Victoria passed the gene for hemophilia B to her son Leopold, and two daughters, Alice and Beatrice.  The disease eventually spread through the royal houses of Spain, Germany, and most famously to Alexei, the son of Nicholas II, the last Tsar of Russia.

Early Treatment: Before the early 1960s the only treatment for bleeding was a transfusion of whole blood or plasma, usually in a hospital.  The average life expectancy of a person with severe hemophilia was 20 years.  In 1965 came the discovery of cryoprecipitate—a product rich in clotting factor—that formed when frozen plasma was thawed.  By the 1970s, freeze-dried powdered factor concentrates became available.  This revolutionized hemophilia care, making it possible for patients to “self-infuse” factor products at home.

Infusion

The AIDS Crisis: In the late 1970s hemophilia was again in international news as the blood supply became contaminated with hepatitis C and HIV, the virus that causes AIDS.  This contamination carried over into the factor concentrates that were just coming into wide use.  Thousands of hemophiliacs around the world were infected, including an estimated 10,000 in the United States.  In many cases loved ones also unknowingly became infected; thousands died.
HIV/AIDS crisis
On to the Present Day: Thanks to the advocacy of the bleeding disorders community, there are much higher standards for blood collection and the production of factor concentrates.  Plasma-derived products are safe.  The use of recombinant DNA technology advanced, and new synthetic products that do not use blood, and cannot transmit viruses, have become the standard treatment.

Learn more about this important history from the Hemophilia Federation of America and the National Hemophilia Foundation.