Hemophilia

Hemophilia is a rare bleeding disorder in which the blood doesn’t clot normally.  If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed inside your body (internally), especially in your knees, ankles, and elbows. This bleeding can damage your organs and tissues and may be life threatening.

Hemophilia usually is inherited. “Inherited” means that the disorder is passed from parents to children through genes.

People born with hemophilia have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. There are several types of clotting factors. These proteins work with platelets to help the blood clot.

Platelets are small blood cell fragments that form in the bone marrow—a sponge-like tissue in the bones. Platelets play a major role in blood clotting. When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels and stop bleeding.

The two main types of hemophilia are A and B. If you have hemophilia A, you’re missing or have low levels of clotting factor VIII (8). About 8 out of 10 people who have hemophilia have type A. If you have hemophilia B, you’re missing or have low levels of clotting factor IX (9).

Rarely, hemophilia can be acquired, which means the disorder was not present at birth, but developed over time. This can happen if your body forms antibodies (proteins) that attack the clotting factors in your bloodstream. The antibodies can prevent the clotting factors from working.

Symptoms:

Signs of external bleeding may include:

  • Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
  • Nosebleeds for no obvious reason
  • Heavy bleeding from a minor cut
  • Bleeding from a cut that resumes after stopping for a short time

Signs of internal bleeding may include:

  • Blood in the urine (from bleeding in the kidneys or bladder)
  • Blood in the stool (from bleeding in the intestines or stomach)
  • Large bruises (from bleeding into the large muscles of the body)
  • Tightness and swelling of joints (from bleeding in the joint)
  • Long-lasting, painful headaches or neck pain or stiffness (from bleeding in the brain)

Treatment:

The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that’s missing or low.

Clotting factor concentrates can be made from human blood. The blood is treated to prevent the spread of diseases, such as hepatitis. With the current methods of screening and treating donated blood, the risk of getting an infectious disease from human clotting factors is very small.

To further reduce the risk, you or your child can take clotting factor concentrates that aren’t made from human blood. These are called recombinant clotting factors. Clotting factors are easy to store, mix, and use at home—it only takes about 15 minutes to receive the factor.

You may have replacement therapy on a regular basis to prevent bleeding. This is called preventive or prophylactic therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. This use of the treatment, on an as-needed basis, is called demand therapy.

Demand therapy is less intensive and expensive than preventive therapy. However, there’s a risk that bleeding will cause damage before you receive the demand therapy.

For More Information visit NHLBI – Hemophilia.