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Hemophilia

What Is Hemophilia?

The body is like a vast, well-wired office building: It’s full of cables (blood vessels) that bring life-giving energy (via blood) to your organs and tissues. 

When a vessel gets injured, blood clotting helps it heal. How does it work? Cells and proteins combine to form a clot over the injury so that the vessel doesn’t bleed too much. Eventually, the vessel heals; the clot dissolves; and your body moves on to the next challenge.

Hemophilia is different. When a person has hemophilia, the blood doesn’t clot as quickly

A person with hemophilia may also have internal bleeding—bleeding inside of his body. For example, if they run into something  or get tackled in a football game, the impact can cause the joints to bleed. Or if the person needs surgery, they might have unusually heavy bleeding afterward.

Hemophilia can range from mild to severe. Excessive bleeding can be seen in patients with mild hemophilia, as well. Excessive bleeding can cause damage to joints, tissues, and even organs.


 

Hemophilia: Rare But Serious

About 400 babies are born with hemophilia each year in the U.S., so it’s pretty rare. It is far more common in boys than girls. This is because the genetic mutation that leads to it is carried on the X chromosome.  

Girls carry two X chromosomes. That means each girl has two copies of every gene—one from her father and one from her mother. This includes hemophilia genes that control blood clotting. 

If one of those genes isn’t working, then its healthy counterpart sitting on the other X chromosome can pick up the job. While this girl will be a carrier of hemophilia, she will likely have no signs or symptoms of hemophilia. 

Boys, on the other hand, carry only one X chromosome from their mother and a Y chromosome from their father. So if that one X chromosome has the genetic mutation for hemophilia, there’s no healthy counterpart on the other chromosome to override it. The boy will likely have hemophilia or another type of bleeding disorder.


 

Types of Hemophilia: The ABCs of the Disease

If you’re raising a child with hemophilia or have hemophilia, you have heard this phrase a lot: “clotting factor.” It’s the substance that makes the difference between health and sickness for your child or yourself. 

A clotting factor is a protein that’s needed for blood to clot normally. A child with hemophilia doesn’t have enough of one particular factor—or it’s missing entirely.  

Learn Your ABCs 

The three types are hemophilia A, hemophilia B, and hemophilia C.  

  • Hemophilia A: This occurs when the body doesn’t make enough of factor VIII (eight). It is also called “classic hemophilia” because it’s the most common type—four times more common than hemophilia B.
  • Hemophilia B: This occurs when the body doesn’t make enough of factor IX (nine). It’s sometimes referred to as “Christmas disease” or the “royal disease”—a reference to the first patient diagnosed with hemophilia B (Stephen Christmas) and the most famous family with hemophilia B (Queen Victoria’s).  
  • Hemophilia C: This occurs when the body doesn’t make enough of factor XI (eleven).

 

Symptoms of Hemophilia

Hemophilia can cause many symptoms, including: 

  • Pain or swelling in affected joints
  • Constant nosebleeds
  • Blood in the urine or stool
  • Excessive bleeding after dental work or getting a tooth pulled
  • Large or unexplained bruises

A girl who has started her menstrual cycle might also notice heavy periods or periods that last longer than seven days.


 

Causes of Hemophilia

Hemophilia can cause many symptoms, including: 

  • Pain or swelling in affected joints
  • Constant nosebleeds
  • Blood in the urine or stool
  • Excessive bleeding after dental work or getting a tooth pulled
  • Large or unexplained bruises

A girl who has started her menstrual cycle might also notice heavy periods or periods that last longer than seven days.