Molecular Basis of Congenital Factor XIII Deficiency in Iran

Dorgalaleh, A. and Assadollahi, V. and Tabibian, S. and Shamsizadeh, M. (2018) Molecular Basis of Congenital Factor XIII Deficiency in Iran. Clinical and Applied Thrombosis/Hemostasis, 24 (2). pp. 210-216.

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Factor XIII deficiency (FXIIID) is an extremely rare autosomal recessive disorder that has the highest incidence in Iran. The FXIIID is primarily due to mutations in the FXIII-A gene, most of which are unique. In the current study, we report all identified mutations among Iranian patients. Among 483 patients, 366 (75.8) were molecularly analyzed; 11 different mutations were observed. Of 11, 8 (72.7) are missense, whereas the remaining 3 (27.3) are deletion/insertion. Among these patients, 347 (94.9) had the unique mutation of c.562T>C and 5 (1.4) had the c.233G>A mutation. c.1226G>A, c.2111G>A, and c.1142T>A are also common, whereas other mutations, including 3 missense and 3 deletion/insertion, were observed only in single patient. Although, in most cases, FXIII mutations are unique and restricted to a specific family, this differs in Iran where a considerable number of identified mutations, recurrently observed, appear to be due to the high rate of consanguinity. © 2016, © The Author(s) 2016.

Item Type: Article
Additional Information: cited By 3
Uncontrolled Keywords: autosomal recessive disorder; bleeding disorder; blood clotting factor 13 deficiency; brain hemorrhage; consanguinity; enzyme activity; gene deletion; gene mutation; human; Iran; major clinical study; missense mutation; molecular diagnosis; priority journal; Protein Data Bank; protein synthesis; Review; blood clotting factor 13 deficiency; genetics; incidence; molecular epidemiology; mutation, blood clotting factor 13, Consanguinity; Factor XIII; Factor XIII Deficiency; Humans; Incidence; Iran; Molecular Epidemiology; Mutation
Subjects: WH Hemic and Lymphatic Systems
Depositing User: eprints admin
Date Deposited: 30 Dec 2018 07:26
Last Modified: 21 Aug 2019 09:43

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