Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00098892%3A_____%2F24%3A10158646" target="_blank" >RIV/00098892:_____/24:10158646 - isvavai.cz</a>
Alternative codes found
RIV/61989592:15110/24:73625891
Result on the web
<a href="https://www.sciencedirect.com/science/article/abs/pii/S2352302624000632?via%3Dihub" target="_blank" >https://www.sciencedirect.com/science/article/abs/pii/S2352302624000632?via%3Dihub</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/S2352-3026(24)00063-2" target="_blank" >10.1016/S2352-3026(24)00063-2</a>
Alternative languages
Result language
angličtina
Original language name
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30205 - Hematology
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Lancet Haematology
ISSN
2352-3026
e-ISSN
—
Volume of the periodical
11
Issue of the periodical within the volume
5
Country of publishing house
GB - UNITED KINGDOM
Number of pages
15
Pages from-to
"e368"-"e382"
UT code for WoS article
001381576200001
EID of the result in the Scopus database
2-s2.0-85188304968