title: Blood coagulation factor XIII and factor XIII deficiency.
abstract: Factor XIII (FXIII) is a multifunctional pro-γ-transglutaminase that, in addition to its well-known role in hemostasis, has a crucial role in angiogenesis, maintenance of pregnancy, wound healing, bone metabolism, and even cardio protection. FXIII deficiency (FXIIID) is a rare bleeding disorder (RBD) with an estimated incidence of one per two million that is accompanied by life-threatening bleeding such as umbilical cord bleeding, recurrent spontaneous miscarriage, and intracranial hemorrhage (ICH). Today, the disease is successfully managed by FXIII concentrate and recombinant FXIII for prophylaxis, management of minor and major bleeding, treatment of ICH, and successful delivery in women with recurrent pregnancy loss. Molecular analysis of patients with FXIIID revealed a wide spectrum of mutations, most frequently missense mutations in the FXIII-A subunit, with a few recurrent mutations observed worldwide. In vitro expression studies revealed that most of the missense mutations cause intracellular instability of the FXIII protein and, subsequently, FXIIID.
authors.affiliation: Departments of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran. Electronic address: dorgalaleha@gmail.com.
authors.forename: Akbar
authors.initials: A
authors.lastname: Dorgalaleh
authors.affiliation: Departments of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Jamal
authors.initials: J
authors.lastname: Rashidpanah
mesh_terms: D000022:Abortion, Spontaneous; D001777:Blood Coagulation; D003131:Combined Modality Therapy; D019468:Disease Management; D005176:Factor XIII / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D005177:Factor XIII Deficiency / Q000097:blood* / Q000150:complications / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D005786:Gene Expression Regulation; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009154:Mutation; D018919:Neovascularization, Physiologic / Q000235:genetics; D010641:Phenotype; D011247:Pregnancy; D014945:Wound Healing / Q000235:genetics
chemical_list: D005176:Factor XIII
keywords: Clinical manifestations; Diagnosis; Factor XIII deficiency