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.

1st Department of Pediatrics National and Kapodistrian University of Athens Athens Greece

Arkansas Children's Research Institute and Department of Pediatrics University of Arkansas for Medical Sciences Little Rock AR USA

Chonnam National University Hwasun Hospital Gwangju South Korea

Cohen Children's Medical Center Hematology Oncology and Stem Cell Transplantation Hew Hyde Park NY USA; Feinstein Institutes for Medical Research Manhasset NY USA; Zucker School of Medicine at Hofstra Northwell Hempstead NY USA

Cohen Children's Medical Center Hematology Oncology and Stem Cell Transplantation Hew Hyde Park NY USA; Zucker School of Medicine at Hofstra Northwell Hempstead NY USA

Dana Farber Boston Children's Cancer and Blood Disorders Center Harvard Medical School Boston MA USA

Department of Health Sciences Università del Piemonte Orientale Novara Italy

Department of Hematology St Jude Children's Research Hospital Memphis TN USA; Division of Pediatric Hematology and Oncology Department of Pediatrics and Adolescent Medicine Medical Center Faculty of Medicine University of Freiburg Freiburg Germany

Department of Oncology Paediatric Haematology Clinical Transplantology and Paediatrics Medical University of Warsaw Warsaw Poland

Department of Paediatrics St Mary's Hospital Imperial College Healthcare NHS Trust London UK; Department of Immunology and Inflammation Imperial College London London UK

Department of Pediatric and Public Health Sciences University of Turin Turin Italy

Department of Pediatric Hematology and Oncology Oslo University Hospital Oslo Norway

Department of Pediatric Hematology and Oncology Skåne University Hospital Lund Sweden

Department of Pediatrics and Adolescent Medicine Rigshospitalet University of Copenhagen Copenhagen Denmark

Department of Pediatrics Faculty Hospital of Palacky University Olomouc Czech Republic

Department of Pediatrics Hirosaki University Graduate School of Medicine Hirosaki Japan

Department of Pediatrics LAU Medical Center Rizk Hospital Beirut Lebanon

Division of Hematology and Medical Oncology Icahn School of Medicine at Mount Sinai The Tisch Cancer Institute New York NY USA

Division of Pediatric Hematology and Oncology Department of Pediatrics and Adolescent Medicine Medical Center Faculty of Medicine University of Freiburg Freiburg Germany

Division of Pediatric Hematology and Oncology Department of Pediatrics and Adolescent Medicine Medical Center Faculty of Medicine University of Freiburg Freiburg Germany; German Cancer Consortium Freiburg Germany; German Cancer Research Center Heidelberg Germany

Dmitry Rogachev National Medical Research Center of Pediatric Hematology Oncology and Immunology Moscow Russia

Hacettepe University Department of Pediatric Hematology and Research Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes Ankara Turkey

Hôpital R DEBRE Groupe Hospitalier Universitaire Assistance Publique Hôpitaux de Paris Nord Université de Paris Cité Paris France; HEMATIM EA4666 UPJV Amiens France; Le LabEx Gr Ex Biogénèse et Pathologies du Globule Rouge Paris France

King Faisal Hospital and Research Center Riyadh Riyadh Saudi Arabia

MCD Centre de Biologie Intégrative Université de Toulouse CNRS UT3 Toulouse France

Pediatric Cell and Gene Therapy Research Center Gene Cell and Tissue Research Institute Tehran University of Medical Sciences Tehran Iran

Pediatric Hematology and Oncology Department Hospital Universitario Gregorio Marañón Madrid Spain; Facultad de Medicina Universidad Complutense de Madrid Madrid Spain; Instituto Investigación Sanitaria Gregorio Marañón Madrid Spain; Instituto Nacional de Investigación Biomédica en Enfermedades Raras Instituto de Salud Carlos 3 Madrid Spain

Pediatric Hematology Department University Medical Center Utrecht Utrecht Netherlands

Pediatric Hospital of Eastern Switzerland St Gallen St Gallen Switzerland

Pediatric Immunology and Hematology Department and CRMR aplasies médullaires Robert Debré Hospital Groupe Hospitalier Universitaire Assistance Publique Hôpitaux de Paris Nord Université de Paris Cité Paris France

St Anna Children's Hospital Department of Pediatrics Medical University Vienna Vienna Austria; Children's Cancer Research Institute Vienna Austria

State Key Laboratory of Experimental Hematology National Clinical Research Center for Blood Diseases Haihe Laboratory of Cell Ecosystem Institute of Hematology and Blood Diseases Hospital Chinese Academy of Medical Sciences Peking Union Medical College Beijing China

The Rina Zaizov Hematology Oncology Division Schneider Children's Medical Center of Israel Peta Tikvah Israel; Felsenstein Medical Research Center Sackler School of Medicine Tel Aviv University Tel Aviv Israel

Vilnius University Hospital Santaros Klinikos Vilnius Lithuania

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