Dysfibrinogenaemias have been gathered until 1994 by Ray F Ebert in the “Index of Variant Human Fibrinogen” (Boca Raton: CRC Press, 1994). The presented database has been developed by M L Hanss and F Biot with the help of the books and publications referenced herein. We thank Ray F Ebert for his major work and for advising us to put and update this information on-line through the Internet, as well as J and C Soria for our stimulating discussion. The value of having this database on the Internet is the ability to update it periodically with published datas. Q Becheras should be aknowledged in participating to the 2014 update, analysing data starting since 2012.
July 2017 : a novel presentation is now available from the web organizer in June 2017, after a substantial delay.
Access to the database / accès à la base
To allow a global use of the database by the medical and scientific corporations, it should be useful to describe and characterize all the abnormalities encountered comprising the known and asymptomatic ones, in order to publish or record them with their clinical context taking into account the degree of frequency founded. This database shall be updated regularly, hopefully quarterly. We thank you for advising us of any mistakes encountered, for your collaboration in its expansion, and for reporting us any restriction in the use of the mentioned publications.
Clinical presentation
Only haemorrhagic and thrombotic features are mentioned, whatever the type, the location, the severity. The link between thrombotic event and dysfibrinogenemia has been more precisely studied by Haverkate F and Samama M (Familial Dysfibrinogenemia and Thrombophilia : Report on a Study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995; 73: 151-161), and by Mosesson MW (Dysfibrinogenemia and thrombosis. Sem Thromb Hemost 1999; 3: 311-319).
Designation
The name used by the authors is quoted. If absent (this is usual for patients presenting with amyloidosis), the town from which the work originates is mentioned. However, to allow an optimal gathering of patients, it seems advisable to use the name of the town where the patient was living at the time of diagnosis. Only the name of the following patient “Dusard” (Paris V) has been used according to the prior patient agreement.
Nomenclature
Protein abnormality refers to the plasma protein (first column) as in most of the descriptions available in the literature, or to the native protein as recommended (Antonarakis SE and the Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mut 1998; 11: 1-3.). Therefore, to facilitate homogenous comparisons, plasma protein position may have been recalculated from the published data.
Citing this resource, On-line registration
M Hanss, F Biot. A Database For Human Fibrinogen Variants. Ann N Y Acad Sci 2001 ; 936 : 89-90. For on-line registration, contact the curator at michel.hanss@chu-lyon.fr
Last update : 01/06/2020 – release 50 (FGB & FGG only)
1215 molecular abnormalities were individualized in the june 2016 release , including
626 Aα mutations, in which 186 Aα 16 mutations, 154 Bβ mutations and 435 γ mutations
Funding for maintenance and improvement of the database is kindly provided by
