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.
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 factor 11 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.
Does hemophilia affect reproduction?
Incidence of medical and pregnancy-related complications is increased in women with sickle cell disease and those who are carriers of the X-linked condition hemophilia. Clearly, inherited bleeding disorders impact the health of women and girls at every stage of their reproductive lives (Table).
Does hemophilia cause miscarriage?
A male fetus has a 50% chance of being affected with hemophilia. When the causative mutation is known, it is possible to determine antenatally whether the boy is affected or not by analyzing fetal DNA obtained by chorionic villus sampling or amniocentesis. The procedure-related risk of miscarriage is low to negligible.
Who is most at risk for factor XI deficiency?
Although the condition can affect people of all heritages, it is most common in people of Ashkenazi Jewish descent. Most cases of factor XI deficiency are inherited and caused by changes (mutations) in the F11 gene.
Can a person with factor XI deficiency bleed?
It was first reported in 1953 that individuals with factor XI deficiency can have a bleeding phenotype [ 1 ]. This topic discusses the diagnosis and management of inherited factor XI deficiency (also called Rosenthal syndrome or hemophilia C).
What is the cause of platelet factor XI deficiency?
The source of platelet factor XI and its contribution to hemostasis are unclear [ 34,35 ]. F11 gene variants — Inherited factor XI deficiency (F11D; also called Rosenthal syndrome or hemophilia C; MIM #612416) is due to homozygosity, compound heterozygosity, or heterozygosity for a pathogenic variant (disease-causing mutation) in the F11 gene.
What is the role of factor XI in blood coagulation?
Factor XI (eleven) is a plasma glycoprotein that acts in the contact phase of blood coagulation (the intrinsic pathway). Unlike the other contact factors (high molecular weight kininogen [HMWK], factor XII, and prekallikrein), factor XI is important for normal hemostasis in vivo.