dcsimg

What is Hemophilia: List of Common Hemophilia Questions and Answers

What is Hemophilia: Common Questions and Answers
NOTE:

Shire does not recommend a particular treatment for specific individuals and recommends that you consult your treatment center or physician before pursuing any course of treatment.

Q: What is hemophilia?

A: Hemophilia is a rare condition in which a person's blood does not clot properly because the body does not produce enough of, or is missing, the blood clotting proteins, factor VIII, or factor IX. Your body depends on these clotting factors to stop bleeding and to promote clotting.

As a person with hemophilia, you bleed longer than someone without hemophilia when you get a cut or bleed internally. Internal bleeding is usually into joints and muscles, but can also occur in the brain or other organs.

Reference

Frequently Asked Questions About Hemophilia. World Federation of Hemophilia website. http://www.wfh.org/en/page.aspx?pid=637. Accessed April 24, 2014.

A: There are several types of hemophilia, but the most common are hemophilia A and hemophilia B.

Hemophilia A, also called classic hemophilia, occurs when clotting factor VIII is either absent or not present in sufficient amounts.

Hemophilia B, also called Christmas disease, occurs when clotting factor IX is either absent or not present in sufficient amounts.

Cases of each type can be mild, moderate or severe, depending on the level and type of protein deficiency.

References

Hemophilia. Centers for Disease Control and Prevention website. http://www.cdc.gov/ncbddd/hemophilia/facts.html. Accessed August 21, 2015.

Frequently Asked Questions About Hemophilia. World Federation of Hemophilia website. http://www.wfh.org/en/page.aspx?pid=637. Accessed April 24, 2014.

A: Hemophilia primarily affects males. The incidence of hemophilia A is one in 5,000 live male births.

Hemophilia A is more common than hemophilia B. The incidence of hemophilia B is one in 25,000 births in the U.S., mostly males.

References

Hemophilia A (factor VIII Deficiency). National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menu id=180&contentid=45&rptname=bleeding. Accessed April 24, 2014.

Hemophilia B (factor IX). National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=181&contentid=46&rptname=bleeding. Accessed April 24, 2014.

A: The severity of hemophilia is dependent on the amount of clotting factor that is either missing or deficient.

Mild hemophilia patients have factor VIII levels 6 to 49% or factor IX levels 5% to 50% of normal.

Moderate hemophilia patients have factor VIII levels or factor IX levels of 1% to 5% of normal.

Severe hemophilia patients have factor VIII levels or factor IX levels of < 1% of normal.

References

Hemophilia A (factor VIII Deficiency). National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menu id=180&contentid=45&rptname=bleeding. Accessed April 24, 2014.

Hemophilia B (factor IX). National Hemophilia Foundation website. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=181&contentid=46&rptname=bleeding. Accessed April 24, 2014.

A: Bleeding causes a biological "domino effect" in which a series of steps are set in motion. Blood vessels begin to shrink to reduce blood flow. Then, platelets (blood-clotting cells) begin to collect at the injured site to form a temporary plug.

In the meantime, clotting factor proteins are sequentially activated in the blood clotting cascade to form a fibrin clot at the wound site, stopping the bleed. For more information, see How Blood Clots: Coagulation.

For people with hemophilia, the missing proteins prevent the domino effect from completing. As a result, your clotting process takes longer to begin without treatment.

References

What are rare clotting factor deficiencies? World Federation of Hemophilia website. http://www.wfh.org/en/page.aspx?pid=662. Accessed April 24, 2014.

World Federation of Hemophilia. The clotting process. http://www.wfh.org/en/page.aspx?pid=635. Accessed April 24, 2014.

A: Clotting factors are proteins found in blood that work together to make a blood clot. They are designated by Roman numerals I through XIII.

When the body detects bleeding, clotting factors are switched on in sequential order, each activating the next factor in the blood-clotting cascade to ultimately form a fibrin clot. The fibrin acts like a net that holds the platelets together to make a firm blood clot.

Factor VIII and factor IX are some of the clotting factor proteins that help produce the fibrin clot. In persons with hemophilia, whose bodies do not make sufficient clotting factor, fibrin is not made properly, so firm blood clots do not form in the wound and bleeding is not easily stopped.

References

What are rare clotting factor deficiencies? World Federation of Hemophilia website. http://www.wfh.org/en/page.aspx?pid=662. Accessed April 24, 2014.

World Federation of Hemophilia. The clotting process. http://www.wfh.org/en/page.aspx?pid=635. Accessed April 24, 2014.

A: There is presently no cure for hemophilia, but with proper treatment using clotting factors, everyone, even people with severe hemophilia, can prevent and stop bleeds.

References

Frequently Asked Questions About Hemophilia. World Federation of Hemophilia website. http://www.wfh.org/en/page.aspx?pid=637. Accessed April 24, 2014.

Treatment. World Federation of Hemophilia website. http://www.wfh.org/en/page.aspx?pid=642. Accessed August 18, 2015.

A: Factor replacement treatment works by replacing the missing or nonfunctioning clotting protein.

When clotting factor is administered to treat a bleed, the body begins to use it immediately to form a clot. This treatment is not a cure for hemophilia – it's a temporary replacement treatment used to treat symptoms of hemophilia.

In people without hemophilia, clotting factor is continuously used and remade by the body.

Reference

What Is Hemophilia? World Federation of Hemophilia website. http://www.wfh.org/en/page.aspx?pid=646. Accessed April 24, 2014.

A: Inhibitors are antibodies that are made by our immune system. In general, when your immune system identifies a foreign substance, it makes antibodies that will specifically recognize that substance and destroy it to defend you from harmful diseases.

In some individuals with hemophilia, the factor replacement treatment is identified as a foreign substance by their immune system. If this happens, the immune system will make antibodies against factor. These antibodies will inhibit the ability of the infused factor to work in the clotting process. This can seriously complicate the treatment of a bleed.

The good news is that there are treatment options available to help manage bleeding episodes in hemophilia patients who develop inhibitors.

Reference

Frequently Asked Questions About Hemophilia. World Federation of Hemophilia website. http://www.wfh.org/en/page.aspx?pid=637. Accessed April 24, 2014

What is Hemophilia: List of Common Hemophilia Questions and Answers

Read common questions and answers about hemophilia: what are the types of hemophilia, what are clotting factors, hemophilia treatment options, and more.