Factor XI Deficiency Carrier DNA Tests
Factor XI Deficiency Carrier DNA Tests
Factor XI Deficiency
Factor XI deficiency, which is also listed as hemophilia C, happens when a person has mutated F11 genetics. Male and also women are equally likely to be carriers or to suffer from element XI shortage. The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia C, is a less common form. For Factor XI, the Cytogenetic Location: 4q35.2, which is the long (q) arm of chromosome 4 at position 35.2.
Unlike classical hemophilia (factor VIII deficiency), which affects mainly boys, factor XI deficiency has no distinction as to gender, and affects both girls and boys. The factor XI deficiency gene is located on chromosome 4 and is found in both males and females.
It is difficult to establish exactly how widespread this disease is, since many people, especially men, present few symptoms and are thus less apt to consult a doctor to obtain a diagnosis. In the American population overall, one person in 100,000 is diagnosed with factor XI deficiency, regardless of degree of severity. The Ashkenazi Jewish population and a few other isolated groups are exceptions to the rule, since they show a much higher incidence— as high as 8% of the population, including both individuals with a single abnormal gene and those with two abnormal genes. This is the most common genetic disorder found in these populations. This is due to the higher probability that parents who are carriers of one or more defective genes, in a group isolated by geographical, cultural, religious or other factors, will conceive children who are carriers of the same defective gene
Due to the fact that their blood does not clot properly, the individual with factor XI deficiency doesn’t recover from injury the way they should. Also straightforward surgeries like a basic dental surgery are high-risk and call for additional treatment with plasma blood transfusions to stop difficulties and also to help to heal. Procedures that wouldn’t be a problem for other people could be very risky for a person with Factor XI deficiency.
Fifty percent of women with Factor XI shortage experience long-term, hefty menses. It’s also usual for these ladies to hemorrhage heavily and also for an extensive duration of time after having a baby. During pregnancy women must cope with situations that risk causing bleeding as a result of various medical interventions, such as amniocentesis, epidural anesthesia, or caesarean section. Moreover, after the hormones drop again, resulting in a reduction in coagulation factor VIII and von Willebrand factor in the period after delivery, women with a factor XI deficiency are at risk of abnormal bleeding. They should always consult a hematologist during pregnancy.
This concern is passed on to children autosomally– not through sex chromosomes– as well as it is recessive. This indicates that if one mom and dad has an altered allele (in various other words, is a carrier), their children will be carriers. If both moms and dads are mutant DNA carriers, each baby has a 50 percent chance of being a genetic carrier and a 25 percent possibility of being born with an Factor XI deficiency.
Taking a carrier DNA test for Factor XI Hemophilia C will prepare you and give you advanced notice that you may have a child with this abnormality before you are pregnant. This is specifically vital with bleeding conditions considering that they could cause unpredictable problems during childbirth. The cost for Factor XI deficiency screening varies, however, it can run for as high as 1200 dollars USD. It’s a small price to spend for peace of mind and preparedness. The tests can also tell you if you carry a mutation for another hemophilia related disorder.
There are a few treatment options: The first patients who were diagnosed with this disease were treated effectively with fresh frozen plasma. PlasmaHormone therapy is administered in the form of birth control pills, injections and, in the past few years, intra-uterine devices (IUDs). Hormone therapy is an excellent way for women with factor XI deficiency to protect themselves against abundant menstrual bleeding. is a blood derivative, a yellowish liquid that is rich in coagulation factors. Factor XI concentrate is delivered in lyophilized (powder) form in glass containers. These factor concentrates are fully treated to inactivate blood-borne viruses such as HIV and the viruses responsible for hepatitis A, B and C. DDAVP, or the synthetic hormone desmopressin, is certainly a very good treatment alternative. Its administration encourages coagulation in anyone by temporarily increasing factor VIII and von Willebrand coagulation factor levels.
- Factor XI Deficiency Carrier DNA Tests[