Page 63 - Haematologica May 2022

FGG mutation in congenital afibrinogenemia
9. Peyvandi F, Mannucci PM. Rare coagulation disorders. Thromb Haemost. 1999;82(4): 1207-1214.
10. Casini A, de Moerloose P, Neerman-Arbez M. Clinical features and management of congenital fibrinogen deficiencies. Semin Thromb Hemost. 2016;42(4):366-374.
11. Casini A, Neerman-Arbez M, Ariens RA, de Moerloose P. Dysfibrinogenemia: from molecular anomalies to clinical manifesta- tions and management. J Thromb Haemost. 2015;13(6):909-919.
12. de Moerloose P, Casini A, Neerman-Arbez M. Congenital fibrinogen disorders: an update. Semin Thromb Hemost. 2013;39(6): 585-595.
13. Watanabe K, Shibuya A, Ishii E, et al. Identification of simultaneous mutation of fibrinogen alpha chain and protein C genes in a Japanese kindred. Br J Haematol. 2003;120(1):101-108.
14. Spena S, Duga S, Asselta R, et al. Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen alpha-chain gene. Eur J Hum Genet. 2004;12(11):891-898.
15. Monaldini L, Asselta R, Duga S, et al. Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects. Thromb Haemost. 2007;97(4):546-551.
16. Neerman-Arbez M, de Moerloose P, Bridel C, et al. Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. Blood. 2000;96 (1):149-152.
17. PeyvandiI F, Palla R, MenegattiI 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.
18. Casini A, von Mackensen S, Santoro C, et al. Clinical phenotype, fibrinogen supplemen- tation and health-related quality of life in patients with afibrinogenemia. Blood. 2021; 137(22):3127-3136.
19. Mosesson MW, Siebenlist KR, Meh DA. The structure and biological features of fib- rinogen and fibrin. Ann N Y Acad Sci. 2001;936:11-30.
20.Standeven KF, Ariens RA, Grant PJ. The molecular physiology and pathology of fib-
rin structure/function. Blood Rev. 2005;19
(5):275-288.
21. de Maat MP, Verschuur M. Fibrinogen het-
erogeneity: inherited and noninherited. Curr
Opin Hematol. 2005;12(5):377-383.
22. Casini A, Blondon M, Tintillier V, et al. Mutational epidemiology of congenital fib- rinogen disorders. Thromb Haemost.
2018;118(11):1867-1874.
23.Hanss MM, Ffrench PO, Mornex JF, et al.
Two novel fibrinogen variants found in patients with pulmonary embolism and their families. J Thromb Haemost. 2003;1(6): 1251-1257.
24. Liu CY, Koehn JA, Morgan FJ. 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):4390-4396.
25.Casini A, Undas A, Palla R, Thachil J, de Moerloose P, Subcommittee on Factor X, et al. Diagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTH. J Thromb Haemost. 2018;16(9):1887-1890.
haematologica | 2022; 107(5)
1071