Group information

The research group is a pioneer in Spain in the study of thalassaemia and structural haemoglobinopathies. It began in the 1980s, and over the years has become a national reference centre for the study and prenatal diagnosis of these pathologies. The group has developed a large number of new technologies for biological and molecular diagnostics in erythropathology, thanks to numerous national and international projects funded by different public and private entities. Scientific achievements have been significant, both nationally and internationally. Multiple previously undescribed mutations causing α- and β-thalassaemias as well as structural haemoglobinopathies have been discovered, leading to the filing of 2 patents. From the Spanish Erythropathology group we have been a reference in chelation protocols in thalassaemia, myelodysplastic syndromes, and in those pathologies where iron overload is a serious health problem.

Group recognised as an Expert Centre in Spain in the European Orphanet network for rare diseases and orphan drugs.

We have also carried out basic studies of the globin locus in the field of epigenetics, cis-regulatory elements with knock-out mice and transcription factors.