Hemophilia

Hemophilia [hee-muh-FIL-ee-uh] is a rare genetic bleeding disorder that prevents blood from clotting. During the clotting process, blood platelets along with special proteins, called clotting factors, help form a clot. The clot stops bleeding and protects the body while it heals.

People with hemophilia have lower levels of certain clotting factors. With less clotting ability, people with hemophilia bleed more easily and bleed longer. Even minor injuries can cause extended bleeding inside and outside the body and lead to serious health problems. Over time, internal bleeding can result in swelling, pain, and even tissue damage.

Common symptoms of hemophilia include:

• Extended periods of bleeding, usually following injuries, cuts, and medical procedures.
• Bruising easily.
• Swollen or painful joints.
• Unexplained bleeding, such as nose bleeds that happen often.
• Heavy menstrual bleeding.

See a doctor if you or your child have any symptoms of hemophilia.

Seek emergency care for:

• Bleeding that can’t be controlled
• Sudden or severe pain or swelling
• Extreme exhaustion
• Signs of blood in urine or stools (poop)

For most people, hemophilia is hereditary or passed from parent to child. In 1 out of every 3 cases, there is no family history of the disorder – it is caused by changes in the person’s own genes.

The gene that causes hemophilia is often linked to a person’s sex. Males with the altered gene will have symptoms while females may or may not have symptoms. The chances of inheriting the gene also depend on which parent has the gene and if the child is male or female.

There are 3 types of hemophilia:

1. Hemophilia A: Caused by low levels of clotting factor VIII (clotting factor 8). This is the most common type of hemophilia.
2. Hemophilia B: Caused by low levels of clotting factor IX (clotting factor 9).
3. Hemophilia C: Caused by low levels of clotting factor XI (clotting factor 11).

Hemophilia can be mild, moderate, or severe. The severity depends on the levels of clotting factors in the blood. 

Doctors will use blood tests to diagnose hemophilia. Screening tests will measure levels of different cells and proteins in the blood as well as check the blood’s ability to clot. Clotting factor tests will determine the type of hemophilia and its severity.

Blood tests are also used to rule out other conditions that might cause unusual bleeding.

There is no cure for hemophilia but it can be managed with specialized care.

The most common treatment for hemophilia is replacement therapy. Concentrated versions of clotting factors are infused (injected) into a person’s vein. These infusions help replace the low or missing clotting factors, which can help prevent and control bleeding. 

Infusions can be given at home and usually last 15 to 20 minutes. People with severe hemophilia may need regular infusions of clotting factor to prevent serious bleeding or joint damage. Others may only need the infusions to treat bleeding when it happens, or prior to a procedure or activity that can cause bleeding. 

There are potential risks and complications of replacement therapy:

• Inhibitors. Some people develop inhibitors to the injected clotting factors.  Inhibitors are antibodies made by the body’s immune system, and they stop the clotting factor before it can work. It is a serious complication that requires special care. Blood tests can detect inhibitors, and because inhibitors can develop at any time during replacement therapy, it’s important to be tested yearly.
• Infection. Some clotting factors are made from donated human blood products that can carry viruses. The risk of infection is very low as these products are carefully screened, tested, and treated. 

There is no known way to prevent hemophilia, but it can be managed with specialized care.

Hemophilia is a genetic bleeding disorder that prevents blood from clotting. The body uses the clotting process to stop bleeding. With less clotting ability, people with hemophilia bleed more easily and bleed longer. Even minor injuries can cause serious bleeding inside and outside the body and lead to other health problems.