[Analysis of a Family with Congenital Hypodysfibrinogenemia Presented with Thrombosis]

Overview

Journal Zhonghua Xue Ye Xue Za Zhi

Specialty Hematology

Date 2023 Jan 28

PMID 36709203

Authors

C Wei

H Cai

B L Hua

T N Zhu

Affiliations

Soon will be listed here.

References

Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de Moerloose P . Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation. J Thromb Haemost. 2017; 15(5):876-888. DOI: 10.1111/jth.13655. View

Casini A, Blondon M, Lebreton A, Koegel J, Tintillier V, De Maistre E . Natural history of patients with congenital dysfibrinogenemia. Blood. 2014; 125(3):553-61. PMC: 4296015. DOI: 10.1182/blood-2014-06-582866. View

Casini A, Neerman-Arbez M, Ariens R, de Moerloose P . Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. J Thromb Haemost. 2015; 13(6):909-19. DOI: 10.1111/jth.12916. View

Bentolila S, Samama M, Conard J, Horellou M, Ffrench P . [Association of dysfibrinogenemia and thrombosis. Apropos of a family (Fibrinogen Melun) and review of the literature]. Ann Med Interne (Paris). 1995; 146(8):575-80. View

Jiang L, Wang X, Ding Q, Xu G, Zhang L, Dai J . [Genotype and function analyses of four inherited dysfibrinogenemia pedigree caused by Arg16 amino acid substitution in fibrinogen Aα chain]. Zhonghua Xue Ye Xue Za Zhi. 2012; 33(6):475-9. View

Moerloose P, Casini A, Neerman-Arbez M . Congenital fibrinogen disorders: an update. Semin Thromb Hemost. 2013; 39(6):585-95. DOI: 10.1055/s-0033-1349222. View

Koopman J, Haverkate F, Grimbergen J, Engesser L, Novakova I, Kerst A . Abnormal fibrinogens IJmuiden (B beta Arg14----Cys) and Nijmegen (B beta Arg44----Cys) form disulfide-linked fibrinogen-albumin complexes. Proc Natl Acad Sci U S A. 1992; 89(8):3478-82. PMC: 48891. DOI: 10.1073/pnas.89.8.3478. View

Casini A, Blondon M, Tintillier V, Goodyer M, Sezgin M, Gunes A . Mutational Epidemiology of Congenital Fibrinogen Disorders. Thromb Haemost. 2018; 118(11):1867-1874. DOI: 10.1055/s-0038-1673685. View

Brennan S, Laurie A, Smith M . Novel FGG variant (γ339C→S) confirms importance of the γ326-339 disulphide bond for plasma expression of newly synthesised fibrinogen. Thromb Haemost. 2015; 113(4):903-5. DOI: 10.1160/TH14-10-0849. View

10.

Marchi R, Lundberg U, Grimbergen J, Koopman J, Torres A, De Bosch N . Fibrinogen Caracas V, an abnormal fibrinogen with an Aalpha 532 Ser-->Cys substitution associated with thrombosis. Thromb Haemost. 2000; 84(2):263-70. View

11.

Shapiro S, Phillips E, Manning R, Morse C, Murden S, Laffan M . Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia. Br J Haematol. 2012; 160(2):220-7. DOI: 10.1111/bjh.12085. View

12.

Engesser L, Koopman J, de Munk G, Haverkate F, Novakova I, Verheijen J . Fibrinogen Nijmegen: congenital dysfibrinogenemia associated with impaired t-PA mediated plasminogen activation and decreased binding of t-PA. Thromb Haemost. 1988; 60(1):113-20. View

13.

Miesbach W, Scharrer I, Henschen A, Neerman-Arbez M, Spitzer S, Galanakis D . Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects. Blood Coagul Fibrinolysis. 2009; 21(1):35-40. DOI: 10.1097/MBC.0b013e328331e6db. View

14.

Liu C, Koehn J, Morgan F . Characterization of fibrinogen New York 1. A dysfunctional fibrinogen with a deletion of B beta(9-72) corresponding exactly to exon 2 of the gene. J Biol Chem. 1985; 260(7):4390-6. View

15.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5):405-24. PMC: 4544753. DOI: 10.1038/gim.2015.30. View

16.

Castaman G, Giacomelli S, Biasoli C, Contino L, Radossi P . Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders. Eur J Haematol. 2019; 103(4):379-384. DOI: 10.1111/ejh.13296. View

17.

Haverkate F, Samama M . Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost. 1995; 73(1):151-61. View

18.

Koopman J, Haverkate F, Lord S, Grimbergen J, Mannucci P . Molecular basis of fibrinogen Naples associated with defective thrombin binding and thrombophilia. Homozygous substitution of B beta 68 Ala----Thr. J Clin Invest. 1992; 90(1):238-44. PMC: 443086. DOI: 10.1172/JCI115841. View