{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:24:44Z","timestamp":1790857484549,"version":"4.1.0"},"reference-count":102,"publisher":"American Society of Hematology","issue":"11","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,9,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Diamond-Blackfan anemia (DBA) was the first ribosomopathy described and is a constitutional inherited bone marrow failure syndrome. Erythroblastopenia is the major characteristic of the disease, which is a model for ribosomal diseases, related to a heterozygous allelic variation in 1 of the 20 ribosomal protein genes of either the small or large ribosomal subunit. The salient feature of classical DBA is a defect in ribosomal RNA maturation that generates nucleolar stress, leading to stabilization of p53 and activation of its targets, resulting in cell-cycle arrest and apoptosis. Although activation of p53 may not explain all aspects of DBA erythroid tropism, involvement of GATA1\/HSP70 and globin\/heme imbalance, with an excess of the toxic free heme leading to reactive oxygen species production, account for defective erythropoiesis in DBA. Despite significant progress in defining the molecular basis of DBA and increased understanding of the mechanistic basis for DBA pathophysiology, progress in developing new therapeutic options has been limited. However, recent advances in gene therapy, better outcomes with stem cell transplantation, and discoveries of putative new drugs through systematic drug screening using large chemical libraries provide hope for improvement.<\/jats:p>","DOI":"10.1182\/blood.2019000947","type":"journal-article","created":{"date-parts":[[2020,7,23]],"date-time":"2020-07-23T17:56:57Z","timestamp":1595527017000},"page":"1262-1273","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":246,"title":["Diamond-Blackfan anemia"],"prefix":"10.1182","volume":"136","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8806-6941","authenticated-orcid":false,"given":"Lydie","family":"Da Costa","sequence":"first","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, H\u00f4pital Robert-Debr\u00e9, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), Paris, France;"},{"name":"U1134, Universit\u00e9 Paris, Paris, France;"},{"name":"Laboratoire d\u2019Excellence GR-Ex, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Leblanc","sequence":"additional","affiliation":[{"name":"Service d\u2019Immuno-H\u00e9matologie P\u00e9diatrique, H\u00f4pital Robert-Debr\u00e9, AP-HP, Paris, France; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2271-5296","authenticated-orcid":false,"given":"Narla","family":"Mohandas","sequence":"additional","affiliation":[{"name":"Laboratory of Red Cell Physiology, New York Blood Center, New York, NY"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"issue":"1-2","key":"2020091011285587700_B1","first-page":"209","article-title":"Congenital hypoplastic anemia: Diamond-Blackfan syndrome. 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