Indication

Hereditary factor XIII deficiency disease

Hereditary factor XIII deficiency disease is a rare, life-threatening autosomal recessive coagulopathy primarily affecting the hematologic system. Read more about Hereditary factor XIII deficiency disease

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About Hereditary factor XIII deficiency disease.

Hereditary factor XIII deficiency disease is a rare, life-threatening autosomal recessive coagulopathy primarily affecting the hematologic system.

It is caused by pathogenic variants in the genes encoding either the catalytic A subunit (*F13A1*) or the noncatalytic carrier B subunit (*F13B*) of factor XIII.

Absence or severe dysfunction of factor XIII impairs covalent fibrin polymer cross-linking at the conclusion of the coagulation cascade, resulting in friable clots that are prematurely degraded.

Affected individuals classically present in infancy with delayed umbilical cord stump bleeding, followed by lifelong risks of spontaneous intracranial hemorrhage, hematomas, poor wound healing, and recurrent miscarriages, typically in the setting of normal routine screening tests like PT and aPTT.

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