Avances en el conocimiento de la anemia de Blackfan-Diamond y desarrollo de nuevas estrategias terapéuticas

Zusammenfassung

Blackfan-Diamond anemia (DBA) is a hereditary bone marrow failure syndrome (BMFS) that is characterized mainly by red blood cell aplasia, congenital abnormalities and a high risk of developing certain types of cancer, and whose incidence is 5 -10 cases per million. Mutations have been identified in 20 genes related with the formation of different ribosomal proteins (RP), although mutations in RPS19 gene represent 25% of DBA patients. Allogeneic hematopoietic stem cell transplantation (HSCT) is so far the only curative treatment of the hematological problem of DBA patients. Taking into account the limitations of this type of treatment, and the numerous ex vivo gene therapy (GT) clinical trials that have been successfully developed, we propose that GT could constitute a new therapeutic approach for DBA patients with mutations in the RPS19 gene. Due to the previous studies carried out in our laboratory in another BMFS, such as Fanconi anemia (FA), in this work we have analyzed firstly whether the content of hematopoietic stem cells (HSCs) in the bone marrow (BM) of these Patients could represent a limitation for the collection of these cells, and therefore for the treatment of DBA patients by means of GT...