Congenital coagulopathies laboratory

The Laboratory of Congenital Coagulopathies of the Blood and Tissue Bank (BST) focuses its care activity on the genetic study of patients affected by some coagulation deficiency.

Most of the molecular diagnoses performed are cases of Hemophilia A or B and Von Willebrand disease, but also others less frequent such as FII, FV, FVII, FX, FXI, FXIII deficiency, combined FV and FVIII deficiency, fibrinogen deficiency, Glanzmann's Thrombasthenia or Bernard-Soulier syndrome.

The laboratory offers its services to hospitals throughout Catalonia and Spain, from which samples arrive for routine diagnosis, family studies or cases that have not been solved at the centers of origin.

It also offers prenatal diagnostic studies, from amniotic fluid or chorionic villi, and genetic counseling in the case of families affected by some congenital coagulopathy.

Finally, it offers the whole exome sequencing, a diagnostic test that has been gaining in importance in those cases where the clinical diagnosis is unclear and there is a suspicion that the hemorrhages are not due to defects in the coagulation cascade.

The main research and teaching lines

The research activity of the Laboratory of Congenital Coagulopathies (LCC) is closely linked to the clinical activity of the Hemophilia Unit of the Vall d'Hebron University Hospital, the Santa Creu i Sant Pau Hospital and the San Joan de Déu Hospital, with which it collaborates on different basic, epidemiological and translational research projects.

The research team has a wide experience in molecular biology techniques and has pioneered the application of Next Generation Sequencing (NGS) technology in the genetic study of congenital coagulopathies and other heritable diseases.

The accumulated experience in this field has led to some of the professionals at LCC also constituting the BST Genomic Platform (PG) team.

The PG offers technological support in the preparation of libraries and the bioinformatics analysis of NGS data. It provides services and/or collaborates in research projects in the Histocompatibility and Immuno genetics Laboratory, the Immunohematology Laboratory and the Blood Transfusion Safety Laboratory, and carries out molecular quality control of the therapeutic CAR-T cells produced at the BST. An important part of the current objectives is innovation in technological tools and their transfer to the routine laboratory.

The research and innovation lines of the LCC-PG are mainly focused on the field of human genetics. In detail, the currently active research programs are broken down into:

LCC-PG staff participate in the BST teaching program, collaborating in the training of intermediate and higher degree cycles with agreements with different secondary education institutes.

It contributes to the specialized health training of internal physicians (MIR). It mentors students in the TDR (research work) and welcomes undergraduate students from various careers who are doing the TFG (final degree work) in fields as diverse as congenital coagulopathies, thrombosis, histocompatibility, immunogenetics, bioinformatics or application of Big Data and Machine learning tools in various research fields.

It also collaborates in the teaching of three postgraduate master's courses specialized in the field of hemostasis and thrombosis. He directs doctoral theses with agreements established with the various Catalan universities. It organizes exchange and training stays for different health professionals through collaboration agreements with Latin American countries, maintaining, for example, close collaboration with the Institute of Immunohematology in La Habana.