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

Publish Year: 1395
Type: Journal paper
Language: English
View: 347

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JR_SBMU-1-2_005

Index date: 25 February 2020

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

Background: Inherited fibrinogen deficiencies are classified into two categories: quantitative (including a fibrinogenemia 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. For determination of the disease which 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 mutation was 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 and has 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.

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

Gholamreza Toogeh

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

Maryam Helali

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

Shaban Alizadeh

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

Akbar Dorgalaleh

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