An update on the EAHAD Databases of Clotting Factor Variants

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By Christopher Ludlam, Chairman, Steering Group

 

The EAHAD databases of genetic variants in clotting factors VII, VIII, IX and VWF continue to be very popular with clinicians and researchers from around the world. Our curators strive to keep the records up to date and to provide detailed, additional clinical information about, for example, the presence of inhibitors. The provision of molecular models revealing the site of variation is particularly useful, as demonstrated in the figure below.

 

Position of a FVII variant c.968T>G (p.Leu323Arg) in the Factor VIIa-Tissue Factor complex structure

 

Additionally, the difficulties from last year’s hacking attempts into the databases have been addressed. The databases are up and running and available again and modifications have been made to reduce vulnerability to further attacks. As an extra precautionary step, we are arranging for copies of the databases to be held in a highly secure server environment.

We are keen to develop the platform of databases by adding details of genetic variants in factors XI and X. This task will start imminently and we hope these new databases will be accessible by the end of the year.

We have also been encouraged by the EAHAD Executive Committee to establish a database of fibrinogen variants. This is an ambitious project because of the complexity of the fibrinogen molecule and the wide variety of potential clinical manifestations associated with variants. We are making arrangements to initiate this project and hope that it will get underway later this year.

We are always keen to receive comments and suggestions from users, in order to make our databases better serve your needs. These can be submitted to the Secretary of the Steering Group, Dr Geoffrey Kemball-Cook.