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Despite significant improvements in our understanding of the pathophysiology of Diamond Blackfan anemia (DBA), there have been few advances in therapy. The cornerstones of treatment remain corticosteroids, chronic red blood cell transfusions, and hematopoietic stem cell transplantation, each of which is fraught with complications. In this article, we will review the history of therapies that have been offered to patients with DBA, summarize the current standard of care, including management of side effects, and discuss novel therapeutics that are being developed in the context of the research into the roles of ribosomal haplo-insufficiency and p53 activation in Diamond Blackfan anemia.

Resume Le diagnostic d'anemie chez le fœtus est evoque dans certaines situations a risque ou devant la decouverte de signes d'appel, notamment echographiques. La ponction de sang fœtal permet un diagnostic de certitude et une evaluation de la gravite de l'anemie. De la profondeur de l'anemie – et de son etiologie – depend la decision therapeutique, en particulier la transfusion in utero.