c.559 T>C as The Most Common Mutation of Factor XIII Deficiency in Iranian Patients is not Restricted to Southeast Iran
Journal of Cellular & Molecular Anesthesia,
Vol. 1 No. 4 (2016),
26 August 2016
,
Page 154-157
https://doi.org/10.22037/jcma.v1i4.13508
Abstract
Background: Iran has a large group of patients with severe congenital factor XIII deficiency (FXIIID) and Trp187Arg mutation that is most disease causing mutation of FXIII in the world is only observed in southeast of Iran with 352 patients with FXIIID. 743 patients with FXIIID was observed in 17 provinces of Iran but Tehran city with more than 12 million population has no any registered patient with FXIIID. Here we described first case with severe congenital FXIIID in Tehran Province with underline FXIII mutation.
Methods: A neonate with prolonged umbilical cord bleeding was referred to hemophilia center. Patient was screened by routine coagulation tests and by clot solubility test. After observation of normal routine tests and abnormal clot solubility patient was underwent a full sequencing of FXIII-A gene. For confirmation of detected mutation in FXIII-A gene, exon 4 was amplified by PCR and cleaved by Eco130I restriction enzyme.
Results: We found first case with severe congenital FXIIID in Tehran Province with Trp187Arg mutation in exon 4 of FXIII-A gene. Patient’s parents were heterozygote for this mutation.
Conclusion: Trp187Arg mutation of FXIII-A is the most common mutation in Iranian patients with FXIIID and is not restricted to southeast of Iran.
Keywords: Factor XIII deficiency, Trp187Arg mutation, Tehran Province
- Factor XIII deficiency
- Trp187Arg mutation
- Tehran Province
How to Cite
References
Dorgalaleh A, Naderi M, Hosseini MS, Alizadeh S, Hosseini S, Tabibian S, et al., editors. Factor XIII Deficiency in Iran: A Comprehensive Review of the Literature. Seminars in thrombosis and hemostasis; 2015 Apr;41(3):323-9.
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 Hematol. 2014 Nov;100(5):443-9.
Dorgalaleh A, Naderi M, Shamsizadeh M. Morbidity and mortality in a large number of Iranian patients with severe congenital factor XIII deficiency. Ann Hematol. 2016 Feb;95(3):451-5.
Dorgalaleh A, Tabibian S, Hosseini S, Shamsizadeh M. Guidelines for laboratory diagnosis of factor XIII deficiency. Blood Coagul Fibrinolysis. 2016 Jun;27(4):361-4.
Lak M, Peyvandi F, Ali Sharifian A, Karimi K, Mannucci P. Pattern of symptoms in 93 Iranian patients with severe factor XIII deficiency. Journal of Thrombosis and Haemostasis. 2003;1(8):1852-3
Naderi M, Tabibian S, Menegatti M, Kalantar E, Kazemi A, Zaker F, et al. Disseminated intravascular coagulation with positive D-dimer: a controversial clinical feature in severe congenital factor XIII deficiency in southeast Iran. Blood Coagul Fibrinolysis. 2016 Feb 1, 10.1097/MBC.0000000000000505
Naderi, M., M. Ahmadinejad, et al. (2016). "Long-term prophylaxis in patients with severe congenital factor XIII deficiency is not complicated by inhibitor formation." Blood coagulation & fibrinolysis: an international journal in haemostasis and thrombosis.
Dorgalaleh A, Tabibian S, Shams M, Tavasoli B, Gheidi M. Laboratory Diagnosis of Factor XIII Deficiency in Developing Countries: An Iranian Experience. Lab Med. 2016:1-6. DOI: 10.1093/labmed/lmw021.
Naderi, M., A. Dorgalaleh, et al. (2016). "Long term follow up study on a large group of patients with congenital factor XIII deficiency treated prophylactically with Fibrogammin P®(spring 2016)." Iranian Journal of Pharmaceutical Research.
Dorgalaleh A, Farshi Y, Alizadeh SH, Naderi M, Tabibian SH, Kazemi A, et al. Challenges in implementation of ISTH diagnostic algorithm for diagnosis and classification of factor XIII deficiency in Iran. J Thromb Haemost. 2015 Sep;13(9):1735-6.
Naderi M, Alizadeh S, Tabibian S, Hosseini S, Dorgalaleh A, Effect of social factors on the highest global incidence of factor XIII deficiency in southeast of Iran, Archives of Iranian medicine, 2015
Naderi M, Imani M, Eshghi P, Dorgalaleh A,Tabibian S, Alizadeh S, et al. Factor XIII deficiency in Sistan and Baluchistan province. Sci J Blood Transfus Organ. 2013; 10(3): 282-288.
Dorgalaleh A, Rashidpanah J, Blood coagulation factor XIII and factor XIII deficiency, Blood Rev (2016), http://dx.doi.org/10.1016/j.blre.2016.06.002
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. 2014.
Dorgalaleh A, Tabibian S, Hosseini MS, Farshi Y, Roshanzamir F, Naderi M, et al. Diagnosis of Factor XIII Deficiency. Hematology. 2015(just-accepted):1-28.
Dorgalaleh A, Kazemi A, Zaker F, Shamsizadeh M, Rashidpanah J, Mollaei M. Laboratory Diagnosis of Factor XIII Deficiency, Routine Coagulation Tests with Quantitative and Qualitative Methods. Clin Lab. 2016;62(4):491-8.
- Abstract Viewed: 763 times
- PDF Downloaded: 466 times