Identification of the First Iranian Family with “γArg275Cys” Mutation (Fibrinogen Tokyo II)

Gholamreza Toogeh; Maryam Helali; Shaban Alizade; Akbar Dorgalaleh

doi:10.5812/jcma-150211

Journal of Cellular & Molecular Anesthesia

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https://doi.org/10.22037/jcma.v1i2.11417

Identification of the First Iranian Family with “γArg275Cys” Mutation (Fibrinogen Tokyo II)

Author(s):

Gholamreza Toogeh¹,

Maryam Helali²,

Shaban Alizade^2,*,

Akbar Dorgalaleh³

1Hematology-Oncology and BMT Research Center, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran

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

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

Journal of Cellular & Molecular Anesthesia:Vol. 1, issue 2; e150211

Published online:Jun 18, 2024

Article type:Case Report

How to Cite:Gholamreza ToogehMaryam HelaliShaban AlizadeAkbar DorgalalehIdentification of the First Iranian Family with “γArg275Cys” Mutation (Fibrinogen Tokyo II).J Cell Mol Anesth.1(2):e150211.https://doi.org/10.22037/jcma.v1i2.11417.

Abstract

Background: Inherited fibrinogen deficiencies areclassified into two categories: quantitative, including afibrinogenemia and hypofibrinogenemia and qualitative, including dysfibrinogenemia. Any mutation in fibrinogen genes accounts for one of these disorders.

Case report: This article reports an Iranian family with dysfibrinogenemia without any clinical signs accidentally diagnosed by routine coagulation tests with slightly elevated PT and APTT a few years ago. Fordeterminationof disease causing genetic aberration in fibrinogen genes, DNA sequencing of three hot spots of these genes (i.e. exon 2 of FGA,exon 2 of FGB and exon 8 of FGG)was performed. Analysis of sequencing results revealed a heterozygous missense mutation c.901 C>T (Arg275Cys) in exon 8 of FGG in mother and children.No mutationwas detected in father’s sample.Fibrinogen with this mutation is known as Tokyo II.

Conclusion: γArg275Cys is a heterozygous mutation that impairs the function of fibrinogen andhas been solely reported in dysfibrinogenemic patients. Clinical findings in this family (no history of bleeding and thrombosis) were compatible with molecular results, because fibrinogen Tokyo II does not have a thrombotic or hemorrhagic nature and lack of clinical signs in this family is not unexpected.

Keywords

Fibrinogen

Tokyo II

Dysfibrinogenemia

References

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

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Author(s):

Gholamreza Toogeh:[PubMed][Scholar]
Maryam Helali:[PubMed][Scholar]
Shaban Alizade:[PubMed][Scholar]
Akbar Dorgalaleh:[PubMed][Scholar]