Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement
- PMID: 38697731
- PMCID: PMC12424227
- DOI: 10.1016/S2352-3026(24)00063-2
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement
Abstract
Diamond-Blackfan anaemia (DBA), first described over 80 years ago, is a congenital disorder of erythropoiesis with a predilection for birth defects and cancer. Despite scientific advances, this chronic, debilitating, and life-limiting disorder continues to cause a substantial physical, psychological, and financial toll on patients and their families. The highly complex medical needs of affected patients require specialised expertise and multidisciplinary care. However, gaps remain in effectively bridging scientific discoveries to clinical practice and disseminating the latest knowledge and best practices to providers. Following the publication of the first international consensus in 2008, advances in our understanding of the genetics, natural history, and clinical management of DBA have strongly supported the need for new consensus recommendations. In 2014 in Freiburg, Germany, a panel of 53 experts including clinicians, diagnosticians, and researchers from 27 countries convened. With support from patient advocates, the panel met repeatedly over subsequent years, engaging in ongoing discussions. These meetings led to the development of new consensus recommendations in 2024, replacing the previous guidelines. To account for the diverse phenotypes including presentation without anaemia, the panel agreed to adopt the term DBA syndrome. We propose new simplified diagnostic criteria, describe the genetics of DBA syndrome and its phenocopies, and introduce major changes in therapeutic standards. These changes include lowering the prednisone maintenance dose to maximum 0·3 mg/kg per day, raising the pre-transfusion haemoglobin to 9-10 g/dL independent of age, recommending early aggressive chelation, broadening indications for haematopoietic stem-cell transplantation, and recommending systematic clinical surveillance including early colorectal cancer screening. In summary, the current practice guidelines standardise the diagnostics, treatment, and long-term surveillance of patients with DBA syndrome of all ages worldwide.
Copyright © 2024 Elsevier Ltd. All rights reserved.
Conflict of interest statement
Declaration of interests AK declares honoraria from chiesi and Novartis and a research grant from Novaris. AK is on the advisory board of Chiesi and Novartis. FML declares honoraria from Chiesi and is on the advisory board of Chiesi. LK is on the advisory board of Agios, Amgen, Bayer, and Novartis. All other authors declare no competing interests.
Figures

References
-
- Diamond L, Blackfan K. Hypoplastic anemia. Am J Dis Child 1938; 56: 464–7.
-
- Josephs HW. Anaemia of Infancy and Early Childhood. Medicine 1936; 15(3): 307–451.
-
- Willig TN, Niemeyer CM, Leblanc T, et al. Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Societe d’Hematologie et d’Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res 1999; 46(5): 553–61. - PubMed
-
- Orfali KA, Ohene-Abuakwa Y, Ball SE. Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. Br J Haematol 2004; 125(2): 243–52. - PubMed
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources
Miscellaneous