Rare Bleeding Disorders

Hemophilia is perhaps the best-known example of a bleeding disorder, but there are other forms of bleeding disorders that are characterized by deficient or missing clotting factor proteins.

Bleeding disorders can be divided into two major categories:

Factor deficiencies. Clotting factors are specialized proteins circulating in the blood. These factors work together in a chain reaction to form clots. If even one of these factors is missing or deficient, clotting is impaired. Specifically, a deficiency of Factor VIII results in hemophilia A, while a deficiency of Factor IX leads to hemophilia B. To learn more, see Factor Deficiencies.

Platelet disorders. Platelets are small protein-containing cell fragments/cells that circulate in the blood. They play an important role in clotting by clumping together and forming a plug. Clotting factors then take over, working together to hold the plug in place. In platelet disorders, bleeding generally occurs immediately following injury, primarily in the skin, mucous membranes, nose, gastrointestinal tract, and urinary tract. Unlike hemophilia, platelet disorders generally do not involve deep bleeding (in joints and muscles, for example). To learn more, see Platelet Disorders.

Many rare bleeding disorders are treated with fresh frozen plasma or other alternative sources of clotting factors, since there are no commercially available purified factor concentrates. For treatment recommendations, please consult your physician and/or hemophilia treatment center. Additional information also can be found on the Web sites of the National Hemophilia Foundation and the World Federation of Hemophilia.

To learn more about rare bleeding disorders, see Comparing Bleeding Disorders.

For more information on rare disorders, visit www.rarediseases.org.

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