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.
What is the result of a deficiency of factor IX?
Hemophilia B is the result of a deficiency of clotting factor IX. The severity of symptoms can vary, and the severe forms become apparent early on. Bleeding is the main symptom of the disease and sometimes, though not always, occurs if an infant is circumcised.
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 is factor 11 in blood clotting?
Factor XI (FXI) is the zymogen of a serine protease enzyme in the intrinsic pathway of blood coagulation and is an important factor in the creation of a stable fibrin clot.
How common is factor XI deficiency?
The incidence of factor XI deficiency is higher in individuals of Ashkenazi Jewish descent where it is estimated to affect 8% of the population. The severe form of the disorder is estimated to affect approximately 1 in 1,000,000 people in the general population.
What is a factor 11 deficiency called?
Factor XI (FXI) deficiency, also called hemophilia C, plasma thromboplastin antecedent deficiency and Rosenthal syndrome, was first recognized in 1953 in patients who experienced severe bleeding after dental extractions. Its incidence is estimated at 1 in 100,000 in the general population.
Why is Factor 9 deficiency called Christmas disease?
Hemophilia B occurs when clotting factor IX is either absent or not present in sufficient amounts. Hemophilia B is also known as Christmas disease. It is named after the first person to be diagnosed with the disorder in 1952, Stephen Christmas.
What does low factor IX mean?
May also be called: Factor IX Deficiency. Hemophilia is a disease that prevents blood from clotting properly. A clot helps stop bleeding after a cut or injury. In hemophilia B (factor IX deficiency), the body doesn’t make enough factor IX (factor 9), one of the substances the body needs to form a clot.
What is a factor 11 deficiency?
Factor XI deficiency is a rare genetic bleeding disorder caused by reduced levels and insufficient activity of a blood protein called factor XI. Factor XI is a clotting factor.
What is factor 11 name?
Factor XI (FXI) deficiency, also called hemophilia C, plasma thromboplastin antecedent deficiency and Rosenthal syndrome, was first recognized in 1953 in patients who experienced severe bleeding after dental extractions.
Can a woman with hemophilia give birth?
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 the function of factor 11?
The F11 gene provides instructions for making a protein called factor XI. This protein plays a role in the coagulation cascade, which is a series of chemical reactions that forms blood clots in response to injury.
Can a deficiency of factor XI cause blood clotting?
Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage (deficiency) of the factor XI protein, which is involved in blood clotting. This condition is classified as either partial or severe based on the degree of deficiency of the factor XI protein.
Is the PT test normal for factor XI deficiency?
PT tests are normal in individuals with factor XI deficiency (but may be abnormal in individuals with other bleeding disorders). Further tests known as assays are required to confirm a diagnosis.
How is factor XI deficiency inherited in autosomal dominant pattern?
Sometimes, factor XI deficiency is inherited in an autosomal dominant pattern. Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual.
What happens to the coagulation factor during pregnancy?
Coagulation factor concentrations change dramatically throughout pregnancy. A comprehensive review is beyond the scope of this paper and can be found in other works. 12–19 A summary of the changes is presented in Table 1.