Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Factor XIII B subunit deficiency

Factor 13B deficiency is an autosomal recessive disorder caused by mutations of the F13B gene. It is characterized biochemically by low levels or dysfunctional factor XIII and clinically by increased bleeding and poor wound healing.

Systematic

Hereditary bleeding disorders
Afibrinogenemia
Disturbances of vitamin K metabolism
Dysfibrinogenemia
Factor XII deficiency
Factor XIII A subunit deficiency
Factor XIII B subunit deficiency
F13B
Plasminogen activator inhibitor deficiency

References:

1.

Koseki S et al. (2001) Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation.

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2.

Saito M et al. (1990) A familial factor XIII subunit B deficiency.

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3.

Hashiguchi T et al. (1993) Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII.

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4.

Kangsadalampai S et al. (1999) Identification and characterization of two missense mutations causing factor XIIIA deficiency.

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5.

Ichinose A et al. (2000) Molecular and genetic mechanisms of factor XIII A subunit deficiency.

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6.

Ichinose A et al. (1996) The normal and abnormal genes of the a and b subunits in coagulation factor XIII.

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Update: Sept. 26, 2018