What gene is affected by hemophilia C?

The disorder may be caused by a myriad of genetic mutations, which is why symptoms vary greatly in people, with deficiencies similar to that of Factor XI (like von Willebrand disease). Unlike classic hemophilia (A and B), hemophilia C affects men and women equally, as the faulty gene is located on chromosome 4.

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.

What gene mutation causes hemophilia?

Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The F8 gene provides instructions for making a protein called coagulation factor VIII. A related protein, coagulation factor IX, is produced from the F9 gene.

What does factor XI deficiency mean?

Factor XI deficiency is a bleeding disorder that interferes with the body’s clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery.

What are the genetics of Factor X deficiency?

There are two forms of Factor X deficiency, an inherited form and a non-inherited form. The inherited form is caused by a genetic change ( mutation) in the F10 gene that affects how the factor X protein is made. Factor X protein is important for helping blood clot properly.

What is factor 11 deficiency?

Factor 11 is bleeding disorder caused due to lack of factor 11 in the blood. It is also called Rosenthal syndrome who detected it in 1953, and hemophilia C. This is a rare disorder, and 1 in 100000 persons get affected with factor 11 disorder. Factor 11 deficiency is reported to be common among Jews .

What is a factor IV deficiency?

A congenital deficiency of Factor IV. Low level of calcium in blood due to a variety of reasons that includes, but is not limited to, dietary deficiency of calcium, decreased absorption of calcium from the gastrointestinal tract, kidney malfunction, and bone disorders.