Diagnosis of factor XIII deficiency

References

• Komaromi I, Bagoly Z, Muszbek L. Factor XIII: novel structural and functional aspects. J Thromb Haemost. 2011;9(1):9–20. doi: 10.1111/j.1538-7836.2010.04070.x
   PubMed Web of Science ®Google Scholar
• Hoppe B. Fibrinogen and factor XIII at the intersection of coagulation, fibrinolysis and inflammation. Thromb Haemost. 2014;112(6):649–58. doi: 10.1160/TH14-01-0085
   PubMed Web of Science ®Google Scholar
• Bagoly Z, Koncz Z, Hársfalvi J, Muszbek L. Factor XIII, clot structure, thrombosis. Thromb Res. 2012;129(3):382–7. doi: 10.1016/j.thromres.2011.11.040
   PubMed Web of Science ®Google Scholar
• Lorand L. Factor XIII and the clotting of fibrinogen: from basic research to medicine. J Thromb Haemost. 2005;3(7):1337–48. doi: 10.1111/j.1538-7836.2005.01213.x
   PubMed Web of Science ®Google Scholar
• Kohler HP. Interaction between FXIII and fibrinogen. Blood. 2013;121(11):1931–2. doi: 10.1182/blood-2013-01-479055
   PubMed Web of Science ®Google Scholar
• Dorgalaleh A, Tabibian S, Hosseini S, Shamsizadeh M. Guidelines for laboratory diagnosis of factor XIII deficiency. Blood Coagul Fibrinolysis: Int J Haemost Thrombo. 2015:1-4. DOI:10.1097/MBC.0000000000000459.
   Google Scholar
• Naderi M, Dorgalaleh A, Tabibian S, Alizadeh S, Eshghi P, Solaimani G. Current understanding in diagnosis and management of factor XIII deficiency. Iran J Ped Hematol Oncol. 2013;3(4):164–72.
   PubMedGoogle Scholar
• Ariëns RA, Lai T-S, Weisel JW, Greenberg CS, Grant PJ. Role of factor XIII in fibrin clot formation and effects of genetic polymorphisms. Blood. 2002;100(3):743–54. doi: 10.1182/blood.V100.3.743
   PubMed Web of Science ®Google Scholar
• Bagoly Z, Katona É, Muszbek L. Factor XIII and inflammatory cells. Thromb Res. 2012;129:S77–81. doi: 10.1016/j.thromres.2012.02.040
   PubMed Web of Science ®Google Scholar
• Lawrie A, Green L, Mackie I, Liesner R, Machin S, Peyvandi F. Factor XIII–an under diagnosed deficiency–are we using the right assays? J Thromb Haemost. 2010;8(11):2478–82. doi: 10.1111/j.1538-7836.2010.04028.x
   PubMed Web of Science ®Google Scholar
• Kohler H, Ichinose A, Seitz R, Ariens R, Muszbek L. Diagnosis and classification of factor XIII deficiencies. J Thromb Haemost. 2011;9(7):1404–6. doi: 10.1111/j.1538-7836.2011.04315.x
   PubMed Web of Science ®Google Scholar
• Schroeder V, Handrková H, Dodt J, Kohler HP. Free factor XIII activation peptide affects factor XIII function. Br J Haematol. 2014.
   PubMed Web of Science ®Google Scholar
• Muszbek L, Bereczky Z, Bagoly Z, Komáromi I, Katona É. Factor XIII: a coagulation factor with multiple plasmatic and cellular functions. Physiol Rev. 2011;91(3):931–72. doi: 10.1152/physrev.00016.2010
   PubMed Web of Science ®Google Scholar
• Dorgalaleh A, Naderi M, Shamsizadeh M. Morbidity and mortality in a large number of Iranian patients with severe congenital factor XIII deficiency. Ann Hematol. 2015:1–5. DOI:10.1007/s00277-015-2568-8.
   PubMed Web of Science ®Google Scholar
• Naderi M, Zarei T, Haghpanah S, Eshghi P, Miri-Moghaddam E, Karimi M. Intracranial hemorrhage pattern in the patients with factor XIII deficiency. Ann Hematol. 2014;93(4):693–7. doi: 10.1007/s00277-013-1918-7
   PubMed Web of Science ®Google Scholar
• Naderi M, Dorgalaleh A, Alizadeh S, Kashani Khatib Z, Tabibian S, Kazemi A, et al. Polymorphism of thrombin-activatable fibrinolysis inhibitor and risk of intracranial haemorrhage in factor XIII deficiency. Haemophilia. 2014;20(1):e89–92. doi: 10.1111/hae.12287
   PubMed Web of Science ®Google Scholar
• Eshghi P, Mahjour S, Naderi M, Dehbozorgian J, Karimi M. Long-term prophylaxis in patients with factor XIII deficiency complicated by intracranial haemorrhage in Iran. Haemophilia. 2010;16(2):383–5. doi: 10.1111/j.1365-2516.2009.02134.x
   PubMed Web of Science ®Google Scholar
• Levy JH, Greenberg C. Biology of factor XIII and clinical manifestations of factor XIII deficiency. Transfusion. 2013;53(5):1120–31. doi: 10.1111/j.1537-2995.2012.03865.x
   PubMed Web of Science ®Google Scholar
• Ivaskevicius V, Biswas A, Bevans C, Schroeder V, Kohler HP, Rott H, et al. Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function. Haematologica. 2010;95(6):956–62. doi: 10.3324/haematol.2009.017210
   PubMed Web of Science ®Google Scholar
• Mahmoodi M, Peyvandi F, Afrasiabi A, Ghaffarpasand F, Karimi M. Bleeding symptoms in heterozygous carriers of inherited coagulation disorders in southern Iran. Blood Coagul Fibrinolysis. 2011;22(5):396–401. doi: 10.1097/MBC.0b013e328345f566
   PubMed Web of Science ®Google Scholar
• Jennings I, Kitchen S, Woods T, Preston F. Problems relating to the laboratory diagnosis of factor XIII deficiency: a UK NEQAS study. J Thromb Haemost. 2003;1(12):2603–8. doi: 10.1046/j.1538-7836.2003.00469.x
   PubMed Web of Science ®Google Scholar
• Favaloro EJ, Lippi G, Adcock DM. Preanalytical and postanalytical variables: the leading causes of diagnostic error in hemostasis?. Semin Thromb Hemost. 2008;34(7):612–34. doi: 10.1055/s-0028-1104540
   PubMed Web of Science ®Google Scholar
• Katona E, Penzes K, Molnar E, Muszbek L. Measurement of factor XIII activity in plasma. Clin Chem Lab Med. 2012;50(7):1191–202. doi: 10.1515/cclm-2011-0730
   PubMed Web of Science ®Google Scholar
• Hayward CP, Moffat KA, Lim W. Prophylactic and perioperative replacement therapy for acquired factor XIII deficiency: reply to a rebuttal. J Thromb Haemost. 2005;3(1):187–8. doi: 10.1111/j.1538-7836.2004.01093.x
   PubMed Web of Science ®Google Scholar
• Lippi G, Salvagno GL, Montagnana M, Lima-Oliveira G, Guidi GC, Favaloro EJ. Quality standards for sample collection in coagulation testing. Semin Thromb Hemost. 2012;38(6):565–75. doi: 10.1055/s-0032-1315961
   PubMed Web of Science ®Google Scholar
• Lima-Oliveira G, Lippi G, Salvagno GL, Montagnana M, Picheth G, Guidi GC. Sodium citrate vacuum tubes validation: preventing preanalytical variability in routine coagulation testing. Blood Coagul Fibrinolysis. 2013;24(3):252–5. doi: 10.1097/MBC.0b013e32835b72ea
   PubMed Web of Science ®Google Scholar
• Fadoo Z, Merchant Q, Rehman KA. New developments in the management of congenital Factor XIII deficiency. J Blood Med. 2013;4:65–73. doi: 10.2147/JBM.S32693
   PubMedGoogle Scholar
• Shanbhag S, Shetty S, Kulkarni B, Ghosh K. An improved, semi quantitative clot based assay for factor XIII. Haemophilia. 2011;17(4):718–20. doi: 10.1111/j.1365-2516.2010.02456.x
   PubMed Web of Science ®Google Scholar
• Tahlan A, Ahluwalia J. Factor XIII: congenital deficiency factor XIII, acquired deficiency, factor XIII A-subunit, and factor XIII B-subunit. Arch Pathol Lab Med. 2014;138(2):278–81. doi: 10.5858/arpa.2012-0639-RS
   PubMed Web of Science ®Google Scholar
• Lovejoy AE, Reynolds TC, Visich JE, Butine MD, Young G, Belvedere MA, et al. Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency. Blood. 2006;108(1):57–62. doi: 10.1182/blood-2005-02-0788
   PubMed Web of Science ®Google Scholar
• Anwar R, Miloszewski KJ. Factor XIII deficiency. Br J Haematol. 1999;107(3):468–84. doi: 10.1046/j.1365-2141.1999.01648.x
   PubMed Web of Science ®Google Scholar
• Bolton-Maggs P, Favaloro E, Hillarp A, Jennings I, Kohler H. Difficulties and pitfalls in the laboratory diagnosis of bleeding disorders. Haemophilia. 2012;18(s4):66–72. doi: 10.1111/j.1365-2516.2012.02830.x
   PubMed Web of Science ®Google Scholar
• Ghosh S, McEvoy P, McVerry B. Idiopathic autoantibody that inhibits fibrin monomer polymerization. Br J Haematol. 1983;53(1):65–72. doi: 10.1111/j.1365-2141.1983.tb01987.x
   PubMed Web of Science ®Google Scholar
• Jakobsen E, Godal H. Simple, Semiquantitative test for partial factor XI11 (FSF) deficiency. Scand J Haematol. 1974;12(5):366–8. doi: 10.1111/j.1600-0609.1974.tb00222.x
   PubMedGoogle Scholar
• Francis J. The detection and measurement of factor XIII activity: a review. Med Lab Sci. 1980;37(2):137–47.
   PubMedGoogle Scholar
• Schroeder V, Durrer D, Meili E, Schubiger G, Kohler HP. Congenital factor XIII deficiency in Switzerland: from the worldwide first case in 1960 to its molecular characterisation in 2005. Swiss medical weekly. 2007;137(19-20):272–8.
   PubMed Web of Science ®Google Scholar
• Kamitsuji H, Tani K, Yasui M, Taniguchi A, Taira K, Tsukada S, et al. Activity of blood coagulation factor XIII as a prognostic indicator in patients with Henoch–Schönlein purpura. Eur J Pediatr. 1987;146(5):519–23. doi: 10.1007/BF00441608
   PubMed Web of Science ®Google Scholar
• Mackie I, Cooper P, Lawrie A, Kitchen S, Gray E, Laffan M. Guidelines on the laboratory aspects of assays used in haemostasis and thrombosis. Int J Lab Hematol. 2013;35(1):1–13. doi: 10.1111/ijlh.12004
   PubMed Web of Science ®Google Scholar
• Eshghi P, Cohan N, Naderi M, Karimi M. Factor XIII deficiency: a review of literature. IJBC. 2012;4(2):85–91.
   Google Scholar
• Lim W, Moffat K, M Hayward C. Prophylactic and perioperative replacement therapy for acquired factor XIII deficiency. J Thromb Haemost. 2004;2(6):1017–9. doi: 10.1111/j.1538-7836.2004.00728.x
   PubMed Web of Science ®Google Scholar
• Ichinose A, Osaki T, Souri M. Clinical features of 32 new Japanese cases with autoimmune haemorrha-philia due to anti-factor XIII antibodies. Haemophilia. 2015 Sep;21(5):653–8.
   PubMed Web of Science ®Google Scholar
• Karpati L, Penke B, Katona E, Balogh I, Vamosi G, Muszbek L. A modified, optimized kinetic photometric assay for the determination of blood coagulation factor XIII activity in plasma. Clin Chem. 2000;46(12):1946–55.
   PubMed Web of Science ®Google Scholar
• Ajzner E, Muszbek L. Prophylactic and perioperative replacement therapy for acquired factor XIII deficiency: a rebuttal. J Thromb Haemost. 2004;2(11):2075–7. doi: 10.1111/j.1538-7836.2004.00986.x
   PubMed Web of Science ®Google Scholar
• Nishida Y, Ikematsu S, Fukutake K, Fujimaki M, Fukutake K, Kakishita E. A new rapid and simple assay for factor XIII activity using dansylcadaverine incorporation and gel filtration. Thromb Res. 1984;36(2):123–31. doi: 10.1016/0049-3848(84)90334-7
   PubMed Web of Science ®Google Scholar
• Oertel K, Hunfeld A, Specker E, Reiff C, Seitz R, Pasternack R, et al. A highly sensitive fluorometric assay for determination of human coagulation factor XIII in plasma. Anal Biochem. 2007;367(2):152–8. doi: 10.1016/j.ab.2007.05.011
   PubMed Web of Science ®Google Scholar
• Katona É, Haramura G, Kárpáti L, Fachet J, Muszbek L. A simple, quick one-step ELISA assay for the determination of complex plasma factor XIII (A 2 B 2). Thromb Haemost. 2000;83(2):268–73.
   PubMed Web of Science ®Google Scholar
• Parameswaran KN, Cheng XF, Chen EC, Velasco PT, Wilson JH, Lorand L. Hydrolysis of gamma: epsilon isopeptides by cytosolic transglutaminases and by coagulation factor XIIIa. J Biol Chem. 1997;272(15):10311–7. doi: 10.1074/jbc.272.15.10311
   PubMed Web of Science ®Google Scholar
• Yorifuji H, Anderson K, Lynch GW, Van De Water L, McDonagh J. B protein of factor XIII: differentiation between free B and complexed B. Blood. 1988;72(5):1645–50.
   PubMed Web of Science ®Google Scholar
• Katona É, Ajzner É, Tóth K, Kárpáti L, Muszbek L. Enzyme-linked immunosorbent assay for the determination of blood coagulation factor XIII A-subunit in plasma and in cell lysates. J Immunol Methods. 2001;258(1):127–35. doi: 10.1016/S0022-1759(01)00479-3
   PubMed Web of Science ®Google Scholar
• Greenberg CS, Dobson JV, Miraglia CC. Regulation of plasma factor XIII binding to fibrin in vitro. Blood. 1985;66(5):1028–34.
   PubMed Web of Science ®Google Scholar
• Luo Y, Zhang G, Zuo W, Zheng W, Dai C. Acquired factor XIII inhibitor in monoclonal gammopathy of undetermined significance: characterization and cross-linked fibrin ultrastructure. Ann Hematol. 2010;89(8):833–4. doi: 10.1007/s00277-009-0868-6
   PubMed Web of Science ®Google Scholar
• Franchini M, Mannucci PM. Inhibitors of propagation of coagulation (factors VIII, IX and XI): a review of current therapeutic practice. Br J Clin Pharmacol. 2011;72(4):553–62. doi: 10.1111/j.1365-2125.2010.03899.x
   PubMed Web of Science ®Google Scholar
• Graham JE, Yount WJ, Roberts HR. Immunochemical characterization of a human antibody to factor XIII. Blood. 1973;41(5):661–9.
   PubMed Web of Science ®Google Scholar
• Luo YY, Zhang GS. Acquired factor XIII inhibitor: clinical features, treatment, fibrin structure and epitope determination. Haemophilia. 2011;17(3):393–8. doi: 10.1111/j.1365-2516.2010.02459.x
   PubMed Web of Science ®Google Scholar
• Otis PT, Feinstein DI, Rapaport SI, Patch MJ. An acquired inhibitor of fibrin stabilization associated with isoniazid therapy: clinical and biochemical observations. Blood. 1974;44(6):771–81.
   PubMed Web of Science ®Google Scholar
• Krumdieck R, Shaw DR, Huang ST, Poon M-C, Rustagi PK. Hemorrhagic disorder due to an isoniazid-associated acquired factor XIII inhibitor in a patient with Waldenström's macroglobulinemia. Am J Med. 1991;90(1):639–45. doi: 10.1016/0002-9343(91)90643-C
   PubMed Web of Science ®Google Scholar
• Gregory TF, Cooper B. Case report of an acquired factor XIII inhibitor: diagnosis and management. Proc (Bayl Univ Med Cent). 2006;19(3):221–23.
   PubMedGoogle Scholar
• Srivastava A, Brewer A, Mauser-Bunschoten E, Key N, Kitchen S, Llinas A, et al. Guidelines for the management of hemophilia. Haemophilia. 2013;19(1):e1–47. doi: 10.1111/j.1365-2516.2012.02909.x
   PubMed Web of Science ®Google Scholar
• Kessel R, Hu C, Shore-Lesserson L, Rand J, Manwani D. A child with acquired factor XIII deficiency: case report and literature review. Haemophilia. 2013;19(6):814–26. doi: 10.1111/hae.12145
   PubMed Web of Science ®Google Scholar
• Blancher C, Jones A. SDS-PAGE and western blotting techniques. Metastasis Research Protocols: Springer; 2001. p. 145–62.
   Google Scholar
• Miller C, Platt S, Rice A, Kelly F, Soucie J. Validation of Nijmegen–Bethesda assay modifications to allow inhibitor measurement during replacement therapy and facilitate inhibitor surveillance. J Thromb Haemost. 2012;10(6):1055–61. doi: 10.1111/j.1538-7836.2012.04705.x
   PubMed Web of Science ®Google Scholar
• Anwar R, Stewart AD, Miloszewski KJ, Losowsky MS, Markham AF. Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. Br J Haematol. 1995;91(3):728–35. doi: 10.1111/j.1365-2141.1995.tb05376.x
   PubMed Web of Science ®Google Scholar
• Biswas A, Ivaskevicius V, Seitz R, Thomas A, Oldenburg J. An update of the mutation profile of Factor 13 A and B genes. Blood Rev. 2011;25(5):193–204. doi: 10.1016/j.blre.2011.03.001
   PubMed Web of Science ®Google Scholar
• Green AR. Postgraduate haematology. London: John Wiley & Sons; 2010.
   Google Scholar
• Ivaskevicius V, Windyga J, Baran B, Schroeder V, Junen J, Bykowska K, et al. Phenotype–genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations. Haemophilia. 2007;13(5):649–57. doi: 10.1111/j.1365-2516.2007.01517.x
   PubMed Web of Science ®Google Scholar
• Kulkarni BP, Nair SB, Vijapurkar M, Mota L, Shanbhag S, Ali S, et al. Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review. PLoS ONE. 2014;9(10): e108683-1–16.
   Web of Science ®Google Scholar
• Gomez Garcia E, Poort S, Stibbe J, Sturk A, Schaap M, Kappers M, et al. Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency. Br J Haematol. 2001;112(2):513–8. doi: 10.1046/j.1365-2141.2001.02577.x
   PubMed Web of Science ®Google Scholar
• Naderi M, Dorgalaleh A, Alizadeh S, Tabibian S, Hosseini S, Shamsizadeh M, et al. Clinical manifestations and management of life-threatening bleeding in the largest group of patients with severe factor XIII deficiency. Int J Hemato. 2014;100(5):443–9. doi: 10.1007/s12185-014-1664-1
   PubMed Web of Science ®Google Scholar
• Naderi M, Alizadeh S, Kazemi A, Tabibian S, Zaker F, Bamedi T, et al. Central nervous system bleeding in pediatric patients with factor XIII deficiency: A study on 23 new cases. Hematology. 2015;20(2):112–8. doi: 10.1179/1607845414Y.0000000172
   PubMed Web of Science ®Google Scholar
• Eshghi P, Cohan N, Lak M, Naderi M, Peyvandi F, Menegatti M, et al. Arg77His and Trp187Arg are the most common mutations causing FXIII deficiency in Iran. Clin Appl Thromb Hemost. 2012;18(1):100–3. doi: 10.1177/1076029611412363
   PubMed Web of Science ®Google Scholar
• Goodeve A. Laboratory methods for the genetic diagnosis of bleeding disorders. Clin Lab Haematol. 1998;20(1):3–19. doi: 10.1046/j.1365-2257.1998.00115.x
   PubMedGoogle Scholar
• Dalal A, Pradhan M, Agarwal S. Genetics of bleeding disorders. Int J Human Genet. 2006;6(1):27–32.
   Google Scholar
• Peyvandi F, Kunicki T, Lillicrap D. Genetic sequence analysis of inherited bleeding diseases. Blood. 2013;122(20):3423–31. doi: 10.1182/blood-2013-05-505511
   PubMed Web of Science ®Google Scholar
• Killick CJ, Barton CJ, Aslam S, Standen G. Prenatal diagnosis in factor XIII-A deficiency. Arch Dis Child Fetal Neonatal Ed. 1999;80(3):F238–9. doi: 10.1136/fn.80.3.F238
   PubMedGoogle Scholar