Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime.
Inherited factor XIII deficiency results from mutations in the F13A1 gene or, less commonly, the F13B gene. These genes provide instructions for making the two parts (subunits) of a protein called factor XIII. This protein plays a critical 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. Factor XIII acts at the end of the cascade to strengthen and stabilize newly formed clots, preventing further blood loss.
Inherited factor XIII deficiency affects 1 to 3 per million people worldwide. Researchers suspect that mild factor XIII deficiency, including the acquired form of the disorder, is underdiagnosed because many affected people never have a major episode of abnormal bleeding that would lead to a diagnosis.
Inherited factor XIII deficiency is considered to have an autosomal recessive pattern of inheritance, which means that it results when both copies of either the F13A1 gene or the F13B gene in each cell have mutations.
Dale Kresge is an Internal Medicine doctor in Dallastown, Pennsylvania. Dr. Kresge has been practicing medicine for over 51 years and is rated as an Advanced doctor by MediFind in the treatment of Factor 13 Deficiency. He is also highly rated in 20 other conditions, according to our data. His top areas of expertise are Factor 13 Deficiency, High Molecular Weight Kininogen Deficiency, Factor 10 Deficiency, and Factor 5 Deficiency.
Rocco Arcieri is a Family Medicine doctor in Dallastown, Pennsylvania. Dr. Arcieri has been practicing medicine for over 28 years and is rated as an Advanced doctor by MediFind in the treatment of Factor 13 Deficiency. He is also highly rated in 12 other conditions, according to our data. His top areas of expertise are Hospital-Acquired Pneumonia, Atypical Pneumonia, Factor 12 Deficiency, and Congenital Afibrinogenemia.
John Schmitt is a Family Medicine doctor in Willow Street, Pennsylvania. Dr. Schmitt has been practicing medicine for over 36 years and is rated as an Advanced doctor by MediFind in the treatment of Factor 13 Deficiency. He is also highly rated in 22 other conditions, according to our data. His top areas of expertise are Sitosterolemia, Factor 7 Deficiency, Factor 5 Deficiency, and High Molecular Weight Kininogen Deficiency.
Published Date: January 01, 2019Published By: National Institutes of Health