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It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0010602/OMIM:134500","MONDO:0010602/OMIM:306700","MONDO:0010604/OMIM:306900","MONDO:0012897/OMIM:612416"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"

Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Variants in the F8 gene cause hemophilia A, while variants 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. Coagulation factors are proteins that work together in the blood clotting process. After an injury, blood clots protect the body by sealing off damaged blood vessels and preventing excessive blood loss.

Variants in the F8 or F9 gene lead to the production of an abnormal version of coagulation factor VIII or coagulation factor IX, or reduce the amount of one of these proteins. The altered or missing protein cannot participate effectively in the blood clotting process. As a result, blood clots cannot form properly in response to injury. These problems with blood clotting lead to continuous bleeding that can be difficult to control. The variants that cause severe hemophilia almost completely eliminate the activity of coagulation factor VIII or coagulation factor IX. The variants involved in mild and moderate hemophilia reduce but do not eliminate the activity of one of these proteins.

Another form of the disorder, known as acquired hemophilia, is not caused by inherited gene variants. This rare condition is characterized by abnormal bleeding into the skin, muscles, or other soft tissues, usually beginning in adulthood. Acquired hemophilia results when the body makes specialized proteins called autoantibodies that attack and disable coagulation factor VIII. The production of autoantibodies is sometimes associated with pregnancy, immune system disorders, cancer, or allergic reactions to certain drugs. In about half of cases, the cause of acquired hemophilia is unknown.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Hemophilia?"},{"bodyHtml":"

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 variants (also known as 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.

Source: MedlinePlus Genetics

Factor XI deficiency

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. However, regardless of the severity of the protein deficiency, most affected individuals have relatively mild bleeding problems, and some people with this disorder have few if any symptoms. The most common feature of factor XI deficiency is prolonged bleeding after trauma or surgery, especially involving the inside of the mouth and nose (oral and nasal cavities) or the urinary tract. If the bleeding is left untreated after surgery, solid swellings consisting of congealed blood (hematomas) can develop in the surgical area.

Other signs and symptoms of this disorder can include frequent nosebleeds, easy bruising, bleeding under the skin, and bleeding of the gums. Women with this disorder can have heavy or prolonged menstrual bleeding (menorrhagia) or prolonged bleeding after childbirth. In contrast to some other bleeding disorders, spontaneous bleeding into the urine (hematuria), gastrointestinal tract, or skull cavity are not common in factor XI deficiency, although they can occur in severely affected individuals. Bleeding into the muscles or joints, which can cause long-term disability in other bleeding disorders, generally does not occur in this condition.

Causes

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. After an injury, clots seal off blood vessels to stop bleeding and trigger blood vessel repair.

Mutations in the F11 gene result in a shortage (deficiency) of functional factor XI. This deficiency impairs the coagulation cascade, slowing the process of blood clotting and leading to the bleeding problems associated with this disorder. The amount of functional factor XI remaining varies depending on the particular mutation and whether one or both copies of the F11 gene in each cell have mutations. However, the severity of the bleeding problems in affected individuals does not necessarily correspond to the amount of factor XI in the bloodstream, and can vary even within the same family. Other genetic and environmental factors likely play a role in determining the severity of this condition.

Some cases of factor XI deficiency are not caused by F11 gene mutations. In these cases, the condition is called acquired factor XI deficiency. It can be caused by other disorders such as conditions in which the immune system malfunctions and attacks the factor XI protein. Because factor XI is made primarily by cells in the liver, acquired factor XI deficiency can also occur as the result of severe liver disease or receiving a transplanted liver from an affected individual. In addition, approximately 25 percent of people with another disorder called Noonan syndrome have factor XI deficiency.

MedlinePlus Genetics: Causes

MedlinePlus: Factor XI deficiency

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