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The Uncommon Factor Deficiencies

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Bleeding disorders occur because a certain protein, often called a factor, is missing from a patient's body which prohibits him or her from clotting normally. These factor deficiencies have been given names, the most popular ones being Hemophilia and von Willebrand.

We've all heard of Factor VIII and Factor IX deficiencies. Factor VIII is Hemophilia A, and Factor IX is Hemophilia B. Von Willebrand Disease occurs when the patient is missing von Willebrand factor, and sometimes clotting Factor VIII.


We have heard about these deficiencies a lot, but what are the other deficiencies, and how common are they?:


Factor I: Known commonly as fibrinogen deficiency, which is an umbrella term for three inherited fibroin deficiencies. It affects both males and females uniformly and affects approximately 1 or 2 in a million people. A full deficiency of Factor I, known commonly as afibrinogenemia, is usually identified and diagnosed in newborns, because of bleeding after circumcision or from the umbilical cord. Hypofibrogenemia is also diagnosed in newborns who can present a risk of head bleeds. Diagnosis is made by measuring the level of fibrinogen present in the blood, an activated partial thromboplastin time (aPTT) test, a prothrombin time (PT) test, and thrombin clotting time (TCT) test.


Factor II: An extremely rare bleeding disorder called prothrombin deficiency which occurs in about 1 in 2 million people. Men and women are affected equally.


Factor V: Parahemophilia. Occurs in approximately 1 in 1,000,000 people and affects both men and women uniformly.


Factor VII: Known as Alexander's disease or proconvertin deficiency, occurs in 1 in 300,000-500,000 people and affects men and women uniformly.


Factor X: Commonly known as Stuart-Prower factor deficiency, results in about 1 in 500,000-1,000,000 people. It affects men and women uniformly.


Factor XI: Commonly knowns as hemophilia C, its deficiency results in about 1 in 100,000 people. Unlike hemophilia A and B, hemophilia C affects men and women uniformly. Its symptoms are often milder than other hemophilias but delayed bleeding may occur.


Factor XII: Known as Hageman factor deficiency, occurs in 1 in 1 million people and affects men and women uniformly. It is unusual because bleeding symptoms in patients with Factor XII deficiency are rare.


Factor XIII: Factor XIII, known commonly as fibrin stabilizing factor deficiency, is the rarest of the factor deficiencies and is approximated to result in 1 in 5 million people. It affects men and women uniformly.


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