Factor XIII coagulation deficiency ..., (Factor XIII deficiency) - Genes F13A1 or F13B.

Factor XIII deficiency is a rare disorder of blood clotting. It has identified an inherited form and less intense acquired form, acquired during a person 's life.

Signs and symptoms of hereditary factor XIII deficiency beginning shortly after birth, usually with abnormal bleeding from the umbilical cord. If the disease is left untreated, affected individuals may have episodes of excessive and prolonged bleeding that can be life threatening. Abnormal bleeding can occur following surgery or minor trauma. Factor XIII deficiency can also lead to spontaneous bleeding into joints or muscles, causing pain and disability. Affected women tend to have menorrhagia and may have spontaneous abortions. Other signs and symptoms of inherited factor XIII deficiency include nosebleeds, bleeding gums, easy bruising, problems with wound healing and abnormal scarring. This disease also increases the risk of intracranial hemorrhage, which is the leading cause of death in people with this condition.

For its part, acquired factor XIII deficiency becomes evident later in life. People with the acquired form are less likely to have severe or life - threatening episodes of abnormal bleeding than those with the hereditary form.

This process is due to mutations in the gene F13A1, located on the short arm of chromosome 6 (6p25.3-p24.3) and, to a lesser extent, in the F13B gene, located on the long arm of chromosome 1 (1q31- q32.1). These genes encode subunits (subunit A and subunit B, respectively) of factor XIII protein coagulation system. This protein plays a key role in the coagulation process in response to injury. In this sense, factor XIII acts at the end of the process to strengthen and stabilize the newly formed clot, preventing further blood loss.

F13A1 people in the gene with factor XIII deficiency, have identified 69 missense mutations, 11 mutations splicing (splicing), 23 deletions, insertions 9 and 1 insertion / deletion. In F13B gene, they have been identified 9 missense mutations, three mutations splicing (splicing), 4 deletions and 3 insertions related factor XIII deficiency. Mutations in genes F13B F13A1 and significantly reduce the amount of functional factor XIII available to participate in blood coagulation. In most people with hereditary disease, concentrations of factor XIII in the blood are less than 5% of normal. A loss of activity of this protein weakens blood clots, preventing clots stop blood loss effectively.

The acquired form of factor XIII deficiency, occurs when production of factor XIII is reduced or when the body uses faster than the cells can replace factor XIII. The acquired factor XIII deficiency is usually mild, because the concentrations of factor XIII in the bloodstream are 20% to 70% of normal. Concentrations above 10% of normal are usually adequate to prevent spontaneous bleeding episodes. The acquired form of factor XIII deficiency may result from hepatitis, cirrhosis, inflammatory bowel disease, sepsis and various cancers. In addition, this form can manifest due to generation by the immune system autoantibodies that attack and deactivate the factor XIII. Autoantibody production against factor XIII is sometimes associated with immune system diseases such as systemic lupus erythematosus and rheumatoid arthritis. In other cases, the trigger for autoantibody production is unknown.

This disease is inherited in an autosomal recessive pattern, which means that both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease. Some people, including parents of people with factor XIII deficiency have a single mutated copy of F13A1 or F13B gene in each cell. These mutation carriers have a reduced amount of factor XIII in the bloodstream (20% to 60% of normal), and may have abnormal bleeding after surgery, dental procedures, or major trauma. However, most people who have a mutated copy of the gene or F13B F13A1 have episodes of abnormal bleeding under normal circumstances, so they never reach medical care. For its part, the acquired form of factor XIII deficiency is not inherited and not in families.

Tests in IVAMI: in IVAMI perform detection of mutations associated with factor XIII deficiency, by complete PCR amplification of the exons of F13A1 and F13B, respectively, and subsequent sequencing genes.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).