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Hemophilia and Inherited Bleeding Disorders


Inherited Bleeding Disorders

The blood clotting system in the human body is made up of over a dozen different proteins, which work together with special blood cells called platelets to form a blood clot.

Blood Platelet

If one of these clotting proteins is missing or not working properly, abnormal bleeding may occur. Abnormal bleeding can also happen if there are not enough platelets present, or if the platelets do not work normally. Arteries, veins, and capillaries are the blood vessels, or tubes, which carry our blood throughout our bodies. When we are hurt a hole can form in any of these blood vessels causing bleeding to happen.

Sometimes you can see bleeding outside your body, for example from a cut or scrape.

Bleeding which happens under the skin or in a muscle might show up as a bruise, or hematoma.

You can also bleed inside your body, and it can't be seen from the outside at all--not even as a bruise. An example might be bleeding from an ulcer in your stomach, or bleeding from another internal injury to an organ in your body resulting from a car accident.

Your body does two things to stop bleeding.

Blood Clotting

Directions for making clotting proteins are found in genes located in certain cells of the body.


Inherited bleeding disorders can be mild, moderate, or severe, depending on the amount of normal clotting factors present in the blood. People with severe bleeding disorders make little or none of the affected clotting factor, or the factor they make does not work. These people can have prolonged bleeding with very minor injuries. They sometimes bleed without having any known injury at all. People with mild or moderate bleeding disorders usually have problems with bleeding only after an injury or an invasive procedure such as surgery or having a tooth pulled. Common symptoms seen in people with inherited bleeding disorders include:

Diagnosis of Bleeding Disorders

If your primary care provider suspects that you might have a bleeding disorder s/he will usually refer you to a hematologist, a doctor who specializes in treating various kinds of bleeding disorders. Along with a history and physical, a number of blood tests will be needed to make the diagnosis of a bleeding disorder. Some of the tests that may be done are listed below:

Results of blood tests, along with the results of the history and physical exam will help the hematologist determine whether you have a bleeding disorder, and if so which one you have. In order to decide what treatment you may need and what precautions you should take it is important to know what clotting factors are low, and exactly how low the levels are.

von Willebrand Disease (vWD)

There are three types of von Willebrand Disease. No matter what type you have, it will not change to another type at a later time.

In the two-step process of controlling bleeding, the platelet plug can't be made without von Willebrand factor being present. Without the platelet plug, clotting won't take place.

Besides making the platelets stick to form a "plug," von Willebrand factor also carries factor VIII in the blood. Therefore, people with von Willebrand's disease may also have low amounts of clotting factor eight (Factor VIII). Both men and women have an equal chance to inherit von Willebrand's Disease.


There are two types of hemophilia. As with von Willebrand Disease, no matter which type you have, it will not change to another type at a later time.

Both factor VIII and factor IX are needed for the second step of the clotting process. They help form the fiber-like strands that make a network around the platelets to make the clot more stable. Although most people with hemophilia are men, women can sometimes have low levels of factor VIII or factor IX as well.

Treatment of Bleeding Disorders

People with mild bleeding disorders usually don't need any treatment for bleeding problems unless they have surgery or a severe injury. Those with severe bleeding disorders often require frequent treatments. Treatments include the following:

Many people with inherited bleeding disorders get their care at special hemophilia treatment centers. These centers provide comprehensive care for persons with all kinds of bleeding disorders. Benefits of comprehensive care given at hemophilia treatment centers include lower treatment costs, fewer complications, less time lost from work or school, and a significantly lower death rate.

For more information:

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Last Reviewed: Oct 06, 2008

Nurse Coord.
College of Medicine
University of Cincinnati