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

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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:Akbar DorgalalehShadi TabibianBijan VarmaghaniGholamHossein TamadonHasan BoustaniParvin RahamaniShabnam AlizadehSeyedGhader Aziziet 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.1(4):e149521.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

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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]