•  The Research Unit of the Banc de Sang i Teixits was set up in April 1998. Its main aim is to implement diagnostic techniques to enable molecular characterisation of the genetic defects associated with haemophilias A and B in our community. In collaboration with the Haemophilia Unit of Vall d'Hebron General Hospital, we began an ambitious project whose ultimate goal is to identify the mutation responsible for the pathology present in each and every haemophiliac in our healthcare area.

•  Hemobase is the first register of mutations characterised using the population of haemophilia patients in Spain. Although most of the genetic studies were carried out using samples provided by the Haemophilia Unit of Vall d'Hebron General Hospital, a considerable number of the analyses used information on patients from other areas. This was made possible by working closely with hospitals and healthcare centres all over Spain.

•  Our goal is for Hemobase to become more than just a register. We have therefore included educational content and an advanced search engine that lets users view statistics. Using these tools, users can relate different clinical and molecular parameters that interest them. Hemobase only includes mutations from patients with haemophilia A and haemophilia B, not from affected family members or women who are carriers of the condition. Only in cases where it is impossible to obtain a sample from patients do we carry out molecular analyses on female relatives who are carriers of the disease.

•  Because large amounts of resources are dedicated to treating haemophilia patients, it seemed appropriate to begin our in-depth molecular study by designing advanced protocols for analysing the mutational spectrum in our population, which would allow us to offer genetic advice that was truly informative and prenatal diagnoses that were entirely certain. It was also important to determine the relationship between the mutations and the resulting phenotype and to share our discoveries with the international community, thereby contributing to the body of knowledge about the molecular mechanisms involved in the development of the disease.

The first register of mutations characterised using the population of haemophilia patients in Spain   Visit the Hemobase website (In Spanish)