Monthly Archives: September 2016

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EAHAD and EHC share expertise at summer camp in Estonia

by Marie Katzerová, member of the EAHAD Physiotherapists Committee and physiotherapist from Czech Republic

 

At the beginning of August, around 50 people with haemophilia, their families, and healthcare professionals from Estonia gathered for a four-day summer camp in Värska, Estonia. Along with Prof Paul Giangrande (EHC) and Dr Klaus Ӧsterholm (Helsinki, Finland), I was invited to join in the summer camp to deliver educational sessions for the participants.

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Update on the Prospective Rare Bleeding Disorders Database (PRO-RBDD)

The prospective Rare Bleeding Disorders Database (PRO-RBDD) is continuing to collect data on patients with fibrinogen and factor XIII (FXIII) deficiencies using a prospective observational cohort design.

 

Recently the results of the analysis of patients with FXIII deficiency were presented at the Annual meeting of International Society of Thrombosis and Haemostasis-SSC held in Montpellier in May 2016. Results on 64 patients showed that FXIII coagulant activity is correlated with clinical severity defined as age at first bleeding, age at diagnosis and severity of bleeding history. In addition, the minimum hemostatic FXIII level that should be achieved to prevent spontaneous major bleeding was also reported.

 

Moreover, both yearly bleeding incidence and cumulative incidence was reduced in patients on prophylaxis compared with patients on on-demand therapy observed for a median follow up period of 528 days (IQR: 790-185). This allows us to strongly recommend prophylaxis in patients with FXIII deficiency to prevent bleeding episodes.

 

The second part of the project is focused on Fibrinogen deficiency and results on the prospective evaluation of 96 patients has been recently submitted to the upcoming America Society of Hematology congress.

 

Finally two external quality control assessment exercises of laboratory assays for fibrinogen and FXIII were also carried out. Results were shown during the Annual Congress of International Society of Thrombosis and Haemostasis held in Amsterdam in June 2013 and have been recently submitted for publication.

 

We invite new partners to join the project in order to enlarge our study populations on both Fibrinogen and FXIII deficiencies and to fulfil all gaps in the management of these two coagulation disorders.

 

For more information on how to join the project, you can visit the website http://eu.rbdd.org.

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).