c.559 T>C as The Most Common Mutation of Factor XIII Deficiency in Iranian Patients is not Restricted to Southeast Iran

Akbar Dorgalaleh; Shadi Tabibian; Bijan Varmaghani; GholamHossein Tamadon; Hasan Boustani; Parvin Rahamani; Shabnam Alizadeh; SeyedGhader Azizi

doi:10.22037/jcma.v1i4.13508

Journal of Cellular & Molecular Anesthesia

Home

Instructions

APC

Authors Guide Submit Manuscript

Outlines

Abstract
References
Copyright

https://doi.org/10.22037/jcma.v1i4.13508

c.559 T>C as The Most Common Mutation of Factor XIII Deficiency in Iranian Patients is not Restricted to Southeast Iran

Author(s):

Akbar Dorgalaleh¹,

Shadi Tabibian²,

Bijan Varmaghani¹,

GholamHossein Tamadon^3,*,

Hasan Boustani⁴,

Parvin Rahamani²,

Shabnam Alizadeh²,

SeyedGhader Azizi⁵

1Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran

2Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran

3Department of Hematology and Blood Transfusion, School of Allied Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

4Department of Hematology and Blood Transfusion, School of Allied Medicine, Ilam University of Medical Sciences, Ilam, Iran

5. Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran

Journal of Cellular & Molecular Anesthesia:Vol. 1, issue 4; e149521

Published online:Aug 26, 2016

Article type:Original Articles

How to Cite:Dorgalaleh A, Tabibian S, Varmaghani B, Tamadon G, Boustani H, et al. c.559 T>C as The Most Common Mutation of Factor XIII Deficiency in Iranian Patients is not Restricted to Southeast Iran. J Cell Mol Anesth. 2016;1(4):e149521. doi: 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

Keywords

Factor XIII deficiency

Trp187Arg mutation

Tehran Province

References

1.
References are in the PDF file of the article.

Coagulation Factor XIII-A A614T gene Variation is Suggestive of Founder Effect in Iranian Patients with Severe Congenital Factor XIII Deficiency

Majid Naderi,

Shadi Tabibian,

Shaban Alizade,

Zahra Sadat Abtahi,

Akbar Dorgalaleh

Naderi M, Tabibian S, Alizade S, Abtahi ZS, Dorgalaleh A. Coagulation Factor XIII-A A614T gene Variation is Suggestive of Founder Effect in Iranian Patients with Severe Congenital Factor XIII Deficiency. J Cell Mol Anesth. 2016;1(1):e150242. doi: https://doi.org/10.22037/jcma.v1i1.10638

10

Mar

2014

Unusual Prevalence of c559T > C Mutation in Patients with Factor XIII deficiency in Southeast of Iran

Ebrahim Miri-Moghaddam,

Yasaman Garmie,

Majid Naderi

Miri-Moghaddam E, Garmie Y, Naderi M. Unusual Prevalence of c559T > C Mutation in Patients with Factor XIII deficiency in Southeast of Iran. Gene Cell Tissue. 2014;1(1):e18314. doi: https://doi.org/10.17795/gct-18314

7

Aug

2017

Burden of Congenital Factor XIII Deficiency in Iran

Akbar Dorgalaleh

Dorgalaleh A. Burden of Congenital Factor XIII Deficiency in Iran. J Cell Mol Anesth. 2017;2(3):e149544. doi: https://doi.org/10.22037/jcma.v2i3.16263

22

Sep

2020

The Founder Effect? -FXIII Deficiency in Southeast Iran: A Molecular Study Report

Hojat Shahraki,

Akbar Dorgalaleh,

Majid Fathi,

Shadi Tabibian,

Shahram Teimourian,

Hasan Mollanoori

,et al.

Shahraki H, Dorgalaleh A, Fathi M, Tabibian S, Teimourian S, et al. The Founder Effect? -FXIII Deficiency in Southeast Iran: A Molecular Study Report. J Cell Mol Anesth. 2020;5(4):e149647. doi: https://doi.org/10.22037/jcma.v5i4.31852

19

Nov

2009

Molecular Basis of Inherited Factor XIII- A Deficiency among Patients from Sistan - Baluchestan

gholamhossein tamaddon,

Ahmad Kazemi,

Ghasem Rastgarlari,

Fereidoon Ala,

Shabnam Hejazi

tamaddon G, Kazemi A, Rastgarlari G, Ala F, Hejazi S. Molecular Basis of Inherited Factor XIII- A Deficiency among Patients from Sistan - Baluchestan. Zahedan J Res Med Sci. 2010;11(4):e94357. doi:

Import into EndNote Import into BibTex

Crossmark

Checking

Share on

Comments

Number of Comments:0

Cited by

Scopus by DOI: 2
Last Update: 1 month ago
Scopus by Title: 2
Last Update: 1 month ago
Scopus by Title (Ref): 2
Last Update: 1 month ago
CrossRef: 0
Last Update: 2 days ago

Metrics

Licensing and reuse information

Ordering Reprints

Articles are published under the Creative Commons license stated on each article. No permission or royalty fee is required for uses permitted by that license. CCC handles optional bulk and customized reprint orders. Any quotation covers production and delivery services only, not copyright permission. > Request Reprints from CCC

Search Relations

Author(s):

Akbar Dorgalaleh:[PubMed][Scholar]
Shadi Tabibian:[PubMed][Scholar]
Bijan Varmaghani:[PubMed][Scholar]
GholamHossein Tamadon:[PubMed][Scholar]
Hasan Boustani:[PubMed][Scholar]
Parvin Rahamani:[PubMed][Scholar]
Shabnam Alizadeh:[PubMed][Scholar]
SeyedGhader Azizi:[PubMed][Scholar]

Outlines

c.559 T>C as The Most Common Mutation of Factor XIII Deficiency in Iranian Patients is not Restricted to Southeast Iran

Abstract

References

Similar Articles

Coagulation Factor XIII-A A614T gene Variation is Suggestive of Founder Effect in Iranian Patients with Severe Congenital Factor XIII Deficiency

Unusual Prevalence of c559T > C Mutation in Patients with Factor XIII deficiency in Southeast of Iran

Burden of Congenital Factor XIII Deficiency in Iran

The Founder Effect? -FXIII Deficiency in Southeast Iran: A Molecular Study Report

Molecular Basis of Inherited Factor XIII- A Deficiency among Patients from Sistan - Baluchestan

Crossmark

Checking

Last Update: 1 month ago

Last Update: 1 month ago

Last Update: 1 month ago

Last Update: 2 days ago