Factor XI deficiency

Overview

What is factor XI deficiency?

Factor XI deficiency, also known as hemophilia C, is a rare genetic bleeding disorder caused by changes in a gene on chromosome 4. Individuals with factor XI deficiency do not produce high enough levels of a protein called factor XI that helps form a clot to stop bleeding in response to an injury. People who lack this protein often bleed longer than others and require medicine to stop bleeding. The severity of factor XI deficiency varies between individuals. Most people with factor XI deficiency only have more significant bleeding problems after surgery, trauma, or dental procedures. Bleeding due to this deficiency is difficult to predict and tends to not be very consistent. Therefore, making management for this condition difficult.

References
  • http://rarediseases.org/rare-diseases/factor-xi-deficiency/
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Are there other names for factor XI deficiency?

How many people have factor XI deficiency?

What is the most important thing I should know about factor XI deficiency?

Are there other names for factor XI deficiency?

Factor XI deficiency is also known as hemophilia C, to distinguish it from the more common types of hemophilia, hemophilia A and B. Hemophilia A and B are much more common than hemophilia C and have similar but more severe symptoms than hemophilia C. They are also due to different changes in different genes and result in different protein deficiencies. Factor XI deficiency is also known as plasma thromboplastin antecedent deficiency named because of it’s role in the process of blood forming a clot. It is also known as Rosenthal syndrome, because of the doctor who discovered it.

References
  • http://rarediseases.org/rare-diseases/factor-xi-deficiency/
  • https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-XI
How many people have factor XI deficiency?

Factor XI deficiency occurs with different frequencies in different populations. Worldwide, one in eight individuals with Ashkenazi Jewish ancestry are thought to be carriers of factor XI deficiency and between 1 in 190 and 1 in 450 Ashkenazi Jews have a severe bleeding problem related to factor XI deficiency. Approximately 8% of Ashkenazi Jewish individuals in Israel have factor XI deficiency. Other groups at greater risk for carrying mutations that cause factor XI deficiency are Iraqi Jews, Sephardic Jews, and people of Arab background living in Israel. Among non-Jews in the United States, only 1 in 1,000,000 have factor XI deficiency, making it very rare.

References
  • http://rarediseases.org/rare-diseases/factor-xi-deficiency/
  • https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-XI
  • https://www.counsyl.com/services/family-prep-screen/diseases/factor-xi-deficiency/
What is the most important thing I should know about factor XI deficiency?

Early diagnosis and treatment is the key to success. If you or your child has factor XI deficiency, you should be aware of the earliest signs of bleeding. Feelings of pain, tingling or warmth may mean that bleeding is occurring on the inside of your body. Bleeding on the inside is just as serious as bleeding on the outside, even if you can’t see it. The earlier you treat the symptoms, the less likely there will be permanent damage. If a person is not sure if there is a bleed, treat first and observe. If the symptoms are still there after you treat, call your doctor or Hemophilia Treatment Center.

References
  • http://hemoalliance.org/wp-content/uploads/2014/11/Hemophilia_Handbook_2014.pdf

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