Identification of the First Iranian Family with “γArg275Cys” Mutation (Fibrinogen Tokyo II)
Journal of Cellular & Molecular Anesthesia,
Vol. 1 No. 2 (2016),
16 March 2016
,
Page 69-72
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.
- Fibrinogen
- Tokyo II
- Dysfibrinogenemia
How to Cite
References
Henschen A, Lottspeich F, Kehl M, Southan C. Covalent structure of fibrinogen. Ann N Y Acad Sci. 1983;408:28–43.
Acharia S, dimichele D. Rare inherited disorders of
fibrinogen.Haemophilia. 2008;14:1151–8.
Casini A, Blondon M, Lebreton A, Koegel J, Tintillier V, de
Maistre E, et al. Natural history of patients with congenital
dysfibrinogenemia. Blood. 2015;125(3):553-61.
Sumitha E, Jayandharan GR, Arora N, Abraham A, David S, Devi
GS, et al. Molecular basis of quantitative fibrinogen disorders in 27patients from IndiaHaemophilia. 2013;19:611–8.
Dorgalaleh A, Dadashizadeh G, Bamedi T. Hemophilia in Iran. Hematology. 2016 Feb 25.
Everse SJ, Spraggon G, Veerapandian L, Riley M, Doolittle R. Crystal structure of fragment double-D from human fibrin with two different bound ligands. Biochemistry. 1998;37:8637–42.
Soria C, Caen P. A new type of congenital dysfibrinogenaemia with defective fibrin lysis—Dusard syndrome: possible relation to thrombosis. Br J Haematol. 1983;53(4):575-86.
Susan E, Phillips A, Colin V, Michael A, Andrew D. Clinical
phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia. BJH. 2013;160:220–7.
Casini A, Blondon M, Lebreton A, Koege J, Tintillier V, Maistre E, et al. Natural history of patients with congenital dysfibrinogenemia Blood. 2015;125(3):553–61.
Hans M, Biot F. A database for human fibrinogen variants. Ann N Y Acad Sci. 2001;936:89–90.
- Abstract Viewed: 641 times
- PDF Downloaded: 537 times