A Window into the Causes of Haemophilia and VWD

Home / A Window into the Causes of Haemophilia and VWD

The EAHAD genetic variant database is designed for clinicians and scientists and is the most comprehensive global source of known causative mutations for haemophilia A and B and VWD. It is easy to access at www.eahad-db.org and provides a wealth of clinical and scientific information about the relevant genes. The ‘In Depth Mutation Analysis’ of each variant reveals the features of each mutation and predicts its consequences – included is a pictorial representation of a missense mutation site on the factor VIII molecule. It enables you to see how the mutation may produce its clinical phenotype. For those wishing to know more about evolutionary phylogeny of the genes there are displays of gene sequences from many animals ranging from zebrafish and chickens to gorillas!

 

Also available is a factor VII database at the same web address. A much enhanced version is at the final stages of development and we hope it will be available later this year. As there are two factor VII gene copies per cell, and because there are several polymorphisms associated with altered levels of plasma factor VII concentration, this has been a much more complex development than that for haemophilia A or B!

 

The arrangements for establishment of factors X and XI variant databases are on track and we are exploring the possibility of embarking on development of a fibrinogen database.

 

Please visit www.eahad-db.org and see how user-friendly the site is. We welcome feedback.

 

Chairman, Steering Group Christopher Ludlam (cal@ludlam.org.uk) and Secretary, Geoffrey Kemball-Cook (geoffrey@kemball-cook.co.uk).