What is factor 13 disorder?

Summary. Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot.

What is the aPTT result in Factor XIII deficiency?

The PT and aPTT will not detect factor XIII deficiency. Most laboratories use a factor XIII screening assay, called the clot solubility test, which can only detect severe deficiencies with less than approximately 2% factor XIII.

What is hemophilia and what causes it?

Hemophilia is caused by a mutation or change, in one of the genes, that provides instructions for making the clotting factor proteins needed to form a blood clot. This change or mutation can prevent the clotting protein from working properly or to be missing altogether.

What is treatment for Factor XIII deficiency?

It is recommended that individuals with factor XIII deficiency undergo preventive (prophylactic) therapy with FXIII concentrate every 3-4 weeks in an attempt to prevent or minimize the symptoms of the disorder. Prophylactic therapy has been used to prevent mostly bleeding into the brain.

How is factor XIII deficiency detected?

Most untreated individuals with factor XIII deficiency will have close to 0% factor XIII activity in the blood. To confirm a diagnosis, the quantity (amount) of factor XIII is tested in a blood sample through quantitative analysis of factor XIII (assay).

What is the most common presentation of Factor XIII deficiency?

Signs and symptoms of inherited factor XIII deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. If the condition is not treated, affected individuals may have episodes of excessive and prolonged bleeding that can be life-threatening.

Is factor 13 made in the liver?

The primary site for the synthesis of subunit A in plasma factor XIII seems to exist in cells that originate in the marrow. Synthesis of the B subunit occurs in the liver. The factor XIII A chain gene is found on chromosome 6. Circulation of plasma factor XIII occurs in association with its substrate, fibrinogen.