Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

@article{Vlachos2008DiagnosingAT,
  title={Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference},
  author={Adrianna Vlachos and Sarah E. Ball and Niklas Dahl and Blanche P. Alter and Sujit Sheth and Ugo Ramenghi and Joerg J. Meerpohl and Stefan Karlsson and Johnson M Liu and Thierry M. Leblanc and Carole Paley and Elizabeth M. Kang and Eva Judmann Leder and Eva Atsidaftos and Akiko Shimamura and Monica Bessler and B. Glader and Jeffrey M Lipton},
  journal={British Journal of Haematology},
  year={2008},
  volume={142},
  pages={859 - 876}
}
Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births and presents during the first year of life. However, as mutated genes have been discovered in DBA, non‐classical cases with less distinct phenotypes are being described in adults as well as children. In caring for these patients it is often difficult to have a clear understanding of the treatment options and their outcomes… 

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A Case of Diamond Blackfan Anemia (DBA) with Mutation in Ribosomal Protein S19.

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Diamond–Blackfan anemia RPL35A: a case report

  • C. B. Noel
  • Medicine
    Journal of Medical Case Reports
  • 2019
TLDR
A 6-week-old Caucasian girl presenting with urosepsis and heart failure secondary to a severe anemia and neutropenia is reported, reminding clinicians about Diamond–Blackfan anemia as a cause for anemia in infants, the limitations in making the diagnosis in under-resourced health care systems, and the need for standardized treatment protocols applicable to resource-limited countries.
...

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TLDR
The DBAR has provided new information on the clinical presentation, outcome and genetics of DBA as well as a better description of congenital malformations and cancer predisposition, resulting both in improved clinical care of patients with DBA and providing new insights into the pathophysiology of this complex disorder.

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TLDR
The pathogenesis of DBA is still to be fully defined and it is anticipated that further molecular studies will lead to a better understanding of this complex disease.

Diamond-Blackfan anemia

TLDR
The pathogenesis of DBA is still to be fully defined and it is anticipated that further molecular studies will lead to a better understanding of this complex disease.

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TLDR
Clinical and molecular data from 97 Italian DBA patients and a thorough review of literature show a worse outcome in patients with mutations that completely abolish one allele, i.e. the association of mental retardation with large deletions at the 19q locus points to a contiguous gene syndrome.

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TLDR
The Diamond Blackfan Anemia Registry of North America (DBAR) is a comprehensive database of patients with DBA who are enrolled after informed consent is obtained and is an essential substrate for DBA gene discovery.

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TLDR
While potential responsiveness to steroids and relative ease of red cell transfusion make DBA one of the most treatable congenital marrow failure syndromes, both disease-related and treatment-related factors contributed to a limited prognosis.

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TLDR
Evidence for a genotype:phenotype correlation with respect to the prevalence of physical anomalies, and the occurrence of mild or variable haematological severity, is revealed in patients notified to the UK Diamond Blackfan Anaemia Registry.

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TLDR
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TLDR
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TLDR
The main clinical applications for molecular analysis are clinical diagnosis of patients with an incomplete form of DBA and testing of siblings of a patient with a severe form so as to avoid using those who carry a mutation and a silent phenotype as allogeneic stem cell donors.
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