Is Factor 11 Deficiency an autoimmune disease?

Factor XI (FXI) is a plasma glycoprotein that acts during the contact phase of blood coagulation. Acquired FXI deficiency is related to autoimmune diseases, malignant tumors, and pregnancy [7–11].

How is hemophilia C inherited?

Hemophilia C is also primarily inherited, but it does not follow an X-linked pattern because the mutation that causes it affects a gene found on chromosome 4 (an autosomal or non-sex chromosome). Hemophilia C, therefore, affects both genders equally.

Does factor XI decrease in pregnancy?

Laboratory studies of factor XI during pregnancy. Unlike plasma levels of factor VIII and von Willebrand factor [22,23], FXI levels do not rise significantly during pregnancy. Indeed, FXI activity has been reported to remain stable [24] or decrease [25] during pregnancy in healthy women without FXI deficiency.

How is factor XI activated?

Factor XI (FXI) is also a zymogen of the serine protease that is activated by FXII or thrombin, or autocatalytically. It is composed of four so-called apple domains in the heavy chain and a protease domain, and circulates as a homodimer.

What is the most common cause of factor XI deficiency?

Most cases of factor XI deficiency are caused by mutations in the F11 gene, which provides instructions for making the factor XI protein. This protein plays a role in the coagulation cascade, which is a series of chemical reactions that forms blood clots in response to injury.

How is factor XI deficiency treated?

Usually, affected individuals only require preventive (prophylactic) therapy before undergoing some types of surgery or similar procedures. In the United States, fresh frozen plasma is the most widely used treatment and is effective in treating individuals with factor XI deficiency.

Can hemophiliacs have babies?

If the mother is a hemophilia carrier, there is a chance that the baby will be born with hemophilia. In families with a known history of hemophilia, or in those with a prenatal genetic diagnosis of hemophilia, one can plan special testing for hemophilia before the baby’s delivery.

What is normal factor XI levels?

Results are given in units per deciliter (U/dL). The normal range for factor XI activity levels is 65 to 130 U/dL, or 65% to 130%. If your results are lower than normal, it means you may have factor XI deficiency. This condition is quite rare and happens most often among people with Ashkenazi Jewish background.

What are the 3 types of hemophilia?

The three main forms of hemophilia include the following:

  • Hemophilia A: Caused by a lack of the blood clotting factor VIII; approximately 85% of hemophiliacs have type A disease.
  • Hemophilia B: Caused by a deficiency of factor IX.
  • Hemophilia C: Some doctors use this term to refer to a lack of clotting factor XI.

Do female hemophiliacs menstruate?

Women and girls routinely put up with heavy menstrual bleeding, often accompanied by other tell-tale symptoms, such as bruising and prolonged bleeding after dental work or childbirth, without realising that they could have a genetic bleeding disorder.

Why females are not affected by haemophilia?

“Growing up, we understood that men had hemophilia and women were “carriers.” Women passed along the X-linked gene, but did not actually get hemophilia because (it was believed) that the “good X chromosome” compensated for the X chromosome that carried hemophilia.