How I treat Diamond-Blackfan anemia.

Blood
Adrianna Vlachos, Ellen Muir

Abstract

Diamond-Blackfan anemia (DBA) is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. In addition to being an inherited bone marrow failure syndrome, DBA is also categorized as a ribosomopathy as, in more than 50% of cases, the syndrome appears to result from haploinsufficiency of either a small or large subunit-associated ribosomal protein. Nonetheless, the exact mechanism by which haploinsufficiency results in erythroid failure, as well as the other clinical manifestations, remains uncertain. New knowledge regarding genetic and molecular mechanisms combined with robust clinical data from several international patient registries has provided important insights into the diagnosis of DBA and may, in the future, provide new treatments as well. Diagnostic criteria have been expanded to include patients with little or no clinical findings. Patient management is therefore centered on accurate diagnosis, appropriate use of transfusions and iron chelation, corticosteroids, hematopoietic stem cell transplantation, and a coordinated multidisciplinary approach to these complex patients.

References

Apr 1, 1992·Acta Paediatrica Japonica; Overseas Edition·S SumimotoT Hamamoto
May 1, 1991·American Journal of Hematology·A FiorilloB Rotoli
Jun 1, 1989·British Journal of Haematology·E M LeonardN S Young
Dec 1, 1986·American Journal of Hematology·J L AbkowitzJ W Adamson
Sep 1, 1994·The New England Journal of Medicine·G M BrittenhamJ W Harris
Feb 13, 1999·Nature Genetics·N DraptchinskaiaN Dahl
Apr 25, 2000·Journal of Pediatric Hematology/oncology·A J AlessandriJ H Davis
Jan 11, 2001·The New England Journal of Medicine·A R StarkUNKNOWN National Institute of Child Health and Human Development Neonatal Research Network
Sep 21, 2001·Journal of Pediatric Hematology/oncology·G R Buchanan, UNKNOWN International Diamond-Blackfan Anemia Study Group
Mar 15, 2003·Blood·A Victor HoffbrandChaim Hershko
Nov 11, 2003·Journal of Pediatric Hematology/oncology·Nicola A M BobeyRichard C Woodman
Apr 3, 2004·British Journal of Haematology·Karen A OrfaliSarah E Ball
May 6, 2004·JAMA : the Journal of the American Medical Association·Yury VerlinskyAnver Kuliev
Sep 24, 2004·British Journal of Haematology·Hanna T GazdaColin A Sieff
Mar 30, 2005·American Journal of Hematology·Masaharu AkiyamaYoshikatsu Eto
Dec 13, 2005·Annals of the New York Academy of Sciences·Anver KulievYury Verlinsky
Feb 8, 2007·Blood·Carlo B Gambacorti-PasseriniMassimo Zucchetti
Jul 25, 2007·Human Mutation·Radek CmejlaDagmar Pospisilova
Jan 19, 2008·Nature·Benjamin L EbertTodd R Golub
Aug 2, 2008·British Journal of Haematology·Adrianna VlachosUNKNOWN Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference
Nov 4, 2008·Haematologica·Irma Dianzani, Fabrizio Loreni
Nov 27, 2008·The Journal of Clinical Endocrinology and Metabolism·Laura K Bachrach, Leanne M Ward
Apr 10, 2009·JACC. Cardiovascular Imaging·Dudley J Pennell

❮ Previous
Next ❯

Citations

Mar 5, 2011·Blood·Steven R Ellis
Mar 26, 2014·JAAPA : Official Journal of the American Academy of Physician Assistants·David Gelbart
Jul 19, 2013·Leukemia & Lymphoma·David M RaiserBenjamin L Ebert
Mar 29, 2014·Expert Review of Hematology·Adrianna VlachosJeffrey M Lipton
Feb 14, 2016·International Journal of Hematology·Jean-Hugues Dalle, Régis Peffault de Latour
Jun 4, 2014·Annals of Medicine·David B WilsonMonica Bessler
Nov 19, 2013·Pediatric Clinics of North America·S Deborah Chirnomas, Gary M Kupfer
Nov 29, 2011·Experimental Hematology·Alison M TaylorLeonard I Zon
Mar 26, 2011·Seminars in Hematology·Anupama NarlaDavid G Nathan
Mar 26, 2011·Seminars in Hematology·Kelly A McGowan, Philip J Mason
Mar 26, 2011·Seminars in Hematology·Alison M Taylor, Leonard I Zon
Oct 6, 2015·Molecular Therapy : the Journal of the American Society of Gene Therapy·Moonjung JungThomas Winkler
Nov 21, 2012·American Journal of Medical Genetics. Part a·Benjamin D SolomonPhilip F Giampietro
Dec 21, 2012·British Journal of Haematology·John H FargoBertil Glader
Dec 11, 2014·Pediatric Blood & Cancer·Jonathan C HowellSusan R Rose
Mar 22, 2014·British Journal of Haematology·Yesim AydinokVip Viprakasit
Jul 18, 2015·Blood·Francesca FioreddaUNKNOWN Severe Aplastic Anemia the Inborn Error, and the Pediatric Disease Working Parties of the European Society for Blood and Bon
Sep 26, 2015·Seminars in Hematology·Kazusa Ishii, Neal S Young
Jul 18, 2015·Clinical Case Reports·Elena Flores BallesterCarmen Burgaleta
Jun 9, 2015·Bone Marrow Transplantation·R Peffault de LatourUNKNOWN Severe Aplastic Anemia Working Party of the European Group for Blood and Marrow Transplantation
Feb 11, 2015·Best Practice & Research. Clinical Haematology·Daria V Babushok, Monica Bessler
May 24, 2012·TheScientificWorldJournal·Sara E Sjögren, Johan Flygare
Sep 23, 2014·Blood·Davide Ruggero, Akiko Shimamura
Jul 12, 2012·The Korean Journal of Hematology·Soon-Ki KimEun Sun Yoo
Jun 28, 2016·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Nicholas E KhanBlanche P Alter
Apr 6, 2017·Blood·Kelly A O'BrienDavid M Bodine
Dec 17, 2014·Clinical Medicine Insights. Blood Disorders·Hani NakhoulHua Lu
Sep 3, 2017·Proceedings of the National Academy of Sciences of the United States of America·Xiaofei GaoHarvey F Lodish
Dec 6, 2018·British Journal of Haematology·Marije Bartels, Marc Bierings
Feb 21, 2019·SLAS Discovery·Kavitha SivaJohan Flygare
Jan 24, 2019·Blood·Alyssa L Kennedy, Akiko Shimamura
Dec 10, 2017·Hematology·Rodrigo T Calado, Diego V Clé

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

Allogenic & Autologous Therapies

Allogenic therapies are generated in large batches from unrelated donor tissues such as bone marrow. In contrast, autologous therapies are manufactures as a single lot from the patient being treated. Here is the latest research on allogenic and autologous therapies.