References
- Casini A, de Moerloose P, Neerman-Arbez M. Clinical Features and Management of Congenital Fibrinogen Deficiencies. Semin Thromb Hemost 2016;42(4):366-374.
- de Moerloose P, Casini A, Neerman-Arbez M. Congenital fibrinogen disorders: an update. Semin Thromb Hemost 2013;39(6):585-595.
- Casini A, von Mackensen S, Santoro C, et al. Clinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemia. Blood 2021;137(22):3127-3136.
- Peck RC, Fitzgibbon L, Reilly-Stitt C, Doherty C, Phillips E, Mumford AD. Pseudohomozygous dysfibrinogenemia. Res Pract Thromb Haemost 2021;5(6):e12568.
- Brunclikova M, Simurda T, Zolkova J, et al. Heterogeneity of Genotype-Phenotype in Congenital Hypofibrinogenemia-A Review of Case Reports Associated with Bleeding and Thrombosis. J Clin Med 2022;11(4).
- Simurda T, Asselta R, Zolkova J, et al. Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management. Diagnostics (Basel) 2021;11(11).
- Casini A, Blondon M, Lebreton A, et al. Natural history of patients with congenital dysfibrinogenemia. Blood 2015;125(3):553-561.
- 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.
- Arai S, Kamijo T, Takezawa Y, et al. Acquired dysfibrinogenemia: monoclonal lambda-type IgA binding to fibrinogen caused lower functional plasma fibrinogen level and abnormal clot formation. Int J Hematol 2020;112(1):96-104.
- Besser MW, MacDonald SG. Acquired hypofibrinogenemia: current perspectives. J Blood Med 2016;7:217-225.
- Undas A. How to Assess Fibrinogen Levels and Fibrin Clot Properties in Clinical Practice? Semin Thromb Hemost 2016;42(4):381-388.
- Krammer B, Anders O, Nagel HR, Burstein C, Steiner M. Screening of dysfibrinogenaemia using the fibrinogen function versus antigen concentration ratio. Thromb Res 1994;76(6):577-579.
- Suzuki A, Suzuki N, Kanematsu T, et al. Development and validation of a novel qualitative test for plasma fibrinogen utilizing clot waveform analysis. Sci Rep 2022;12(1):434.
- Undas A. Determination of Fibrinogen and Thrombin Time (TT). Methods Mol Biol 2017;1646:105-110.
- Mackie IJ, Kitchen S, Machin SJ, Lowe GD, Haemostasis, Thrombosis Task Force of the British Committee for Standards in H. Guidelines on fibrinogen assays. Br J Haematol 2003;121(3):396-404.
- Skornova I, Simurda T, Stasko J, et al. Use of Fibrinogen Determination Methods in Differential Diagnosis of Hypofibrinogenemia and Dysfibrinogenemia. Clin Lab 2021;67(4).
- Xiang L, Luo M, Yan J, et al. Combined use of Clauss and prothrombin time-derived methods for determining fibrinogen concentrations: Screening for congenital dysfibrinogenemia. J Clin Lab Anal 2018;32(4):e22322.
- Shapiro SE, Phillips E, Manning RA, et al. Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia. Br J Haematol 2013;160(2):220-227.
- Jennings I, Kitchen S, Menegatti M, et al. Potential misdiagnosis of dysfibrinogenaemia: Data from multicentre studies amongst UK NEQAS and PRO-RBDD project laboratories. Int J Lab Hematol 2017;39(6):653-662.
- Leung B, Beggs J, Mason J. Fibrinogen Longmont: A Clinically Heterogeneous Dysfibrinogenemia with Discrepant Fibrinogen Results Influenced by Clot Detection Method and Reagent. TH Open 2022;6(1):e18-e20.
- Casini A, Undas A, Palla R, et al. Diagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTH. J Thromb Haemost 2018;16(9):1887-1890.
- Casini A. From Routine to Research Laboratory: Strategies for the Diagnosis of Congenital Fibrinogen Disorders. Hamostaseologie 2020.
- Richard M, Celeny D, Neerman-Arbez M. Mutations Accounting for Congenital Fibrinogen Disorders: An Update. Semin Thromb Hemost 2022.
- Cao Z, Dong Y, Zeng J, et al. Whole-exome sequencing identified novel mutations in FGA and FGG genes in the patients with decreased fibrinogen. Thromb Res 2019;177:79-82.
- Casini A, Blondon M, Tintillier V, et al. Mutational Epidemiology of Congenital Fibrinogen Disorders. Thromb Haemost 2018;118(11):1867-1874.
- Neerman-Arbez M, de Moerloose P, Casini A. Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders. Semin Thromb Hemost 2016;42(4):356-365.
- Attanasio C, de Moerloose P, Antonarakis SE, Morris MA, Neerman-Arbez M. Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T. Blood 2001;97(6):1879-1881.
- Neerman-Arbez M, Antonarakis SE, Honsberger A, Morris MA. The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster. Eur J Hum Genet 1999;7(8):897-902.
- Casini A, de Moerloose P. How I treat dysfibrinogenemia. Blood 2021;138(21):2021-2030.
- Li Y, Ding B, Wang X, Ding Q. Congenital (hypo-)dysfibrinogenemia and bleeding: A systematic literature review. Thromb Res 2022;217:36-47.
- Casini A, Neerman-Arbez M, Ariens RA, de Moerloose P. Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. J Thromb Haemost 2015;13(6):909-919.
- Casini A, de Moerloose P. Can the phenotype of inherited fibrinogen disorders be predicted? Haemophilia 2016;22(5):667-675.
- Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995;73(1):151-161.
- Engesser L, Koopman J, de Munk G, et al. Fibrinogen Nijmegen: congenital dysfibrinogenemia associated with impaired t-PA mediated plasminogen activation and decreased binding of t-PA. Thromb Haemost 1988;60(1):113-120.
- Koopman J, Haverkate F, Lord ST, Grimbergen J, Mannucci PM. 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):238-244.
- Marchi R, Lundberg U, Grimbergen J, et al. Fibrinogen Caracas V, an abnormal fibrinogen with an Aalpha 532 Ser-->Cys substitution associated with thrombosis. Thromb Haemost 2000;84(2):263-270.
- Collet JP, Soria J, Mirshahi M, et al. Dusart syndrome: a new concept of the relationship between fibrin clot architecture and fibrin clot degradability: hypofibrinolysis related to an abnormal clot structure. Blood 1993;82(8):2462-2469.
- Tarumi T, Martincic D, Thomas A, et al. Familial thrombophilia associated with fibrinogen paris V: Dusart syndrome. Blood 2000;96(3):1191-1193.
- Wada Y, Lord ST. A correlation between thrombotic disease and a specific fibrinogen abnormality (A alpha 554 Arg-->Cys) in two unrelated kindred, Dusart and Chapel Hill III. Blood 1994; 84(11):3709-3714.
- Koopman J, Haverkate F, Grimbergen J, et al. Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia. J Clin Invest 1993;91(4):1637-1643.
- Asselta R, Paraboschi EM, Duga S. Hereditary Hypofibrinogenemia with Hepatic Storage. Int J Mol Sci 2020;21(21).
- Casini A, Neerman-Arbez M, de Moerloose P. Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and management. Blood Rev 2021;48:100793.
- Casini A, von Mackensen S, Santoro C, et al. Clinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemia. Blood 2021;137(22):3127-3136.
- Saes JL, Verhagen MJA, Meijer K, et al. Bleeding severity in patients with rare bleeding disorders: real-life data from the RBiN study. Blood Adv 2020;4(20):5025-5034.
- Peyvandi F, Palla R, Menegatti M, et al. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost 2012;10(4):615-621.
- Callea F, Giovannoni I, Sari S, et al. Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage. Int J Mol Sci 2017;18(12).
- Castaman G, Giacomelli SH, Biasoli C, Contino L, Radossi P. Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders. Eur J Haematol 2019;103(4):379-384.
- Wypasek E, Klukowska A, Zdziarska J, et al. Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations. Thromb Res 2019;182:133-140.
- Zhou J, Ding Q, Chen Y, et al. Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. Blood Cells Mol Dis 2015;55(4):308-315.
- Shen YM, Trang V, Sarode R, Brennan S. Fibrinogen Dusart presenting as recurrent thromboses in the hepatic portal system. Blood Coagul Fibrinolysis 2014;25(4):392-394.