title: Guidelines for laboratory diagnosis of factor XIII deficiency.
abstract: Factor XIII (FXIII) deficiency is an extremely rare hemorrhagic disorder with an approximate worldwide incidence of one per two million. With current tests, diagnosis of this disease can be made more precisely. However, factors such as the number of patients with FXIII deficiency (FXIIID), available diagnostic coagulation tests and the number of molecular studies have affected the diagnosis of FXIIID in different parts of the world. Various laboratory approaches can be used, including screening and diagnosis of the disorder in countries with a relatively high rate of FXIIID and recurrent mutation(s) with a simple polymerase chain reaction-restriction fragment length polymorphism analysis or polymerase chain reaction-sequencing for detection of one or a few specific mutations. In other countries, two different laboratory approaches can be used, depending on available coagulation tests. In less-equipped coagulation laboratories, the clot solubility test remains the only diagnostic test for FXIIID. Even in these countries, at least one referral laboratory should perform FXIII activity and, if possible, confirmation of FXIIID by molecular analysis. In countries with well equipped coagulation laboratories, FXIII activity should be used to screen suspected FXIIID patients; more specific tests such as molecular analysis should be used for confirmation. This study suggests a simple, reliable and flexible algorithm for early diagnosis of FXIIID, and may, with one-time diagnosis of FXIIID, reduce the rate of morbidity and mortality in patients with the disorder.
authors.affiliation: aDepartments of Hematology and Blood Transfusion, School of Allied Medical Sciences, Iran University of Medical SciencesbDepartment of Hematology, Allied Medical School, Tehran University of Medical Sciences, TehrancSchool of Nursing and Midwifery, Shahroud University of Medical Sciences, Shahroud, Iran.
authors.forename: Akbar
authors.initials: A
authors.lastname: Dorgalaleh
authors.forename: Shadi
authors.initials: S
authors.lastname: Tabibian
authors.forename: Soudabeh
authors.initials: S
authors.lastname: Hosseini
authors.forename: Morteza
authors.initials: M
authors.lastname: Shamsizadeh
mesh_terms: D000465:Algorithms; D001681:Biological Assay / Q000706:statistics & numerical data*; D001780:Blood Coagulation Tests / Q000706:statistics & numerical data*; D003029:Coagulants / Q000494:pharmacology; D042241:Early Diagnosis; D005176:Factor XIII / Q000235:genetics* / Q000378:metabolism; D005177:Factor XIII Deficiency / Q000097:blood / Q000175:diagnosis*; D005342:Fibrinolysis / Q000187:drug effects; D005343:Fibrinolytic Agents / Q000494:pharmacology; D015870:Gene Expression; D017408:Guidelines as Topic; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000706:statistics & numerical data*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D003029:Coagulants; D005343:Fibrinolytic Agents; D005176:Factor XIII