Hemophilia C is a bleeding disorder caused by a lack of clotting factor XI. It is an autosomal recessive disorder that affects both males and females equally. Symptoms are usually mild, and diagnosis involves various tests. There is no cure, but treatment includes plasma infusion and antifibrinolytic agents.
Hemophilia C is a bleeding disorder in which a person lacks or lacks clotting factor XI. Clotting factors help blood clot and thus control or stop bleeding. A person who has the disorder, therefore, experiences excessive or prolonged bleeding. Hemophilia C is primarily an autosomal recessive disorder, which means both parents must carry the recessive gene and each must pass it on to the child for the disorder to occur. The disorder itself is also known as factor XI deficiency, plasma thromboplastin antecedent (PTA) deficiency, or Rosenthal syndrome.
There are different types of hemophilia, with the type a person has depending on which clotting factor they lack. Unlike hemophilia A and B, which are the most common types of hemophilia, hemophilia C affects both males and females equally. Similar to hemophilia A and B, anyone of any ethnicity or race can have hemophilia C. On the other hand, though, hemophilia C is most commonly found among those of Ashkenazi Jewish descent.
Although it depends on a person’s specific condition, the symptoms of hemophilia C are usually mild compared to other types of hemophilia. Bleeding patterns tend to be unpredictable. Bruising and nosebleeds occur but are rare, as are joint bleeding and spontaneous bleeding. Excessive or prolonged bleeding usually occurs after a major event such as childbirth, surgery, or trauma. It may be during this important event when a person first discovers they have the disorder.
Diagnosing hemophilia C can involve a variety of tests. Examples of tests include a bleeding time test, an activated partial thromboplastin time (aPTT) test, and a prothrombin time (PT) test. Also, another way to diagnose the disorder is through an analysis of factor XI activity. Alongside these tests, what also helps with the diagnosis is disclosure of family history of bleeding as it is an inherited disease.
There is no cure for hemophilia C; it is a lifelong disorder. Generally, a person with this condition can live a normal life and does not require any type of therapy or treatment unless there is a prolonged bleeding episode, such as after surgery. In that case, the treatment would be plasma infusion. The amount of plasma infused during the procedure may be large to ensure sufficient transfer of factor XI. Another type of treatment, specifically for mouth bleeding, is the use of antifibrinolytic agents.
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