Factor XIII deficiency

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Factor XIII Deficiency

Factor XIII deficiency (pronounced as "Factor Thirteen Deficiency"), also known as Fibrin Stabilizing Factor Deficiency or Congenital Factor XIII Deficiency, is a rare genetic disorder characterized by abnormal blood clotting that can lead to excessive bleeding.

Etymology

The term "Factor XIII" is derived from the classification of blood clotting factors, where each factor is assigned a Roman numeral. The term "deficiency" refers to the lack or insufficiency of something, in this case, the Factor XIII protein.

Definition

Factor XIII deficiency is a condition in which the body does not produce enough of a protein called Factor XIII. This protein plays a crucial role in blood clotting, a process that prevents excessive bleeding when blood vessels are injured. Without enough Factor XIII, the body cannot form stable blood clots.

Symptoms

Symptoms of Factor XIII deficiency can vary greatly among individuals. They may include nosebleeds, gum bleeding, easy bruising, menorrhagia (heavy menstrual bleeding), and delayed wound healing. In severe cases, individuals may experience life-threatening bleeding episodes.

Causes

Factor XIII deficiency is caused by mutations in the F13A1 or F13B gene. These genes provide instructions for making the two subunits of the Factor XIII protein. Mutations in either gene disrupt the normal formation and function of this protein, leading to the symptoms of Factor XIII deficiency.

Diagnosis

Diagnosis of Factor XIII deficiency typically involves blood tests to measure the level of Factor XIII in the body. Genetic testing may also be performed to identify mutations in the F13A1 or F13B gene.

Treatment

Treatment for Factor XIII deficiency typically involves regular infusions of Factor XIII concentrate to replace the missing or malfunctioning protein. This treatment can help prevent bleeding episodes and other complications associated with the condition.

Related Terms

  • Hemophilia: A group of bleeding disorders in which it takes a long time for the blood to clot.
  • Coagulation: The process by which blood changes from a liquid to a gel, forming a blood clot.
  • Fibrin: A protein involved in the final stages of blood clotting.

External links

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