Hemophilia C is a bleeding disorder in which a person is lacking or missing clotting factor XI. Clotting factors help coagulate blood and, thus, control or stop bleeding. A person who has the disorder, then, experiences excessive or prolonged bleeding. Hemophilia C is mainly an autosomal recessive disorder, meaning both parents must be carriers of the recessive gene, and each one has to pass it down 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.
Different types of hemophilia exist, with the type that a person has depending on which clotting factor he is missing. In contrast to hemophilia A and B, which are the more common types of the 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 more commonly found among those of Ashkenazi Jewish descent.
Although it depends on a person’s specific condition, symptoms of hemophilia C are generally mild in comparison to other types of hemophilia. Bleeding patterns tend to be unpredictable. Bruising and nose bleeding do occur, but are rare, as are joint bleeding and spontaneous bleeding. Excessive or prolonged bleeding usually happens after a major event such as childbirth, surgery or trauma. It can be during this major event when a person discovers for the first time that he has the disorder.
Diagnosis of 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. In addition, another way to diagnose the disorder is through a factor XI activity assay. Alongside these tests, what also helps with diagnosis is the disclosure of family bleeding history since it is an inherited disorder.
There is no cure for hemophilia C; it is a lifelong disorder. Generally, a person with the condition can live a normal life, though, and does not require any type of therapy or treatment unless he experiences a prolonged bleeding episode, such as after surgery. In such a case, treatment would consist of plasma infusion. The amount of plasma infused during the procedure can be large, as to ensure enough transfer of factor XI. Another type of treatment, specifically for mouth bleeding, is the use of antifibrinolytic agents.