Factor xiii deficiency

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Factor XIII Deficiency

Factor XIII deficiency (pronounced: fak-tor thir-teen de-fish-en-see) is a rare blood disorder characterized by abnormal blood clotting due to a deficiency of a protein known as Factor XIII.

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" comes from the Latin word 'deficientia', meaning 'a lack or shortage'.

Definition

Factor XIII deficiency is a condition that prevents blood from clotting normally, leading to excessive bleeding. This condition is caused by a lack of the Factor XIII protein, which plays a crucial role in the formation of blood clots.

Symptoms

The symptoms of Factor XIII deficiency can vary greatly among individuals. They may include bruising, nosebleeds, gum bleeding, prolonged bleeding from cuts, and in severe cases, intracranial hemorrhage.

Causes

Factor XIII deficiency is usually caused by a genetic mutation in the F13A1 or F13B gene. It is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations.

Diagnosis

Diagnosis of Factor XIII deficiency typically involves blood tests to measure the level of Factor XIII in the blood. 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 protein. This can help to prevent bleeding episodes and other complications associated with the condition.

Related Terms

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