Literature (selection)
Da Costa L, Leblanc T, Mohandas N. Diamond-Blackfan anemia. Blood. 2020;136(11):1262-1273. https://dx.doi.org/10.1182/blood.2019000947
Quarello P, Garelli E, Carando A, Cillario R, Brusco A, Giorgio E, Ferrante D, Corti P, Zecca M, Luciani M, Pierri F, Putti MC, Cantarini ME, Farruggia P, Barone A, Cesaro S, Russo G, Fagioli F, Dianzani I, Ramenghi U, Anaemia AwgoDB. A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? Br J Haematol. 2020;190(1):93-104. https://dx.doi.org/10.1111/bjh.16508
Da Costa L, Narla A, Mohandas N. An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia. F1000Res. 2018;7. https://dx.doi.org/10.12688/f1000research.15542.1
van Dooijeweert B, van Ommen CH, Smiers FJ, Tamminga RYJ, Te Loo MW, Donker AE, Peters M, Granzen B, Gille H, Bierings MB, MacInnes AW, Bartels M. Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects. Eur J Haematol. 2018;100(2):163-170. https://dx.doi.org/10.1111/ejh.12995
Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM, Participants of Sixth Annual Daniella Maria Arturi International Consensus C. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008;142(6):859-876. https://dx.doi.org/10.1111/j.1365-2141.2008.07269.x
Lipton JM, Atsidaftos E, Zyskind I, Vlachos A. Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer. 2006;46(5):558-564. https://dx.doi.org/10.1002/pbc.20642
Lahoti A, Harris YT, Speiser PW, Atsidaftos E, Lipton JM, Vlachos A. Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). Pediatr Blood Cancer. 2016;63(2):306-312. https://dx.doi.org/10.1002/pbc.25780
Da Costa L, O'Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW. Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. Eur J Med Genet. 2018;61(11):664-673. https://dx.doi.org/10.1016/j.ejmg.2017.10.017
Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018;103(6):930-947. https://dx.doi.org/10.1016/j.ajhg.2018.10.027
Gianferante DM, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM, Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG, Vlachos A, Volejnikova J, Alter BP, Savage SA, Giri N. Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Haematologica. 2020. https://dx.doi.org/10.3324/haematol.2020.246629
Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW. Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. Haematologica. 2018;103(6):949-958. https://dx.doi.org/10.3324/haematol.2017.177980
Aspesi A, Betti M, Sculco M, Actis C, Olgasi C, Wlodarski MW, Vlachos A, Lipton JM, Ramenghi U, Santoro C, Follenzi A, Ellis SR, Dianzani I. A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. Hum Mutat. 2018;39(8):1102-1111. https://dx.doi.org/10.1002/humu.23551
Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA. Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. J Med Genet. 2017;54(6):417-425. https://dx.doi.org/10.1136/jmedgenet-2016-104346
Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG. Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med. 2014;20(7):748-753. https://dx.doi.org/10.1038/nm.3557
Bartels M, Bierings M. How I manage children with Diamond-Blackfan anaemia. Br J Haematol. 2019;184(2):123-133. https://dx.doi.org/10.1111/bjh.15701
Li H, Lodish HF, Sieff CA. Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment. Hematol Oncol Clin North Am. 2018;32(4):701-712. https://dx.doi.org/10.1016/j.hoc.2018.04.005
Vlachos A, Muir E. How I treat Diamond-Blackfan anemia. Blood. 2010;116(19):3715-3723. https://dx.doi.org/10.1182/blood-2010-02-251090
Porter JB, Walter PB, Neumayr LD, Evans P, Bansal S, Garbowski M, Weyhmiller MG, Harmatz PR, Wood JC, Miller JL, Byrnes C, Weiss G, Seifert M, Grosse R, Grabowski D, Schmidt A, Fischer R, Nielsen P, Niemeyer C, Vichinsky E. Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients. Br J Haematol. 2014;167(5):692-696. https://dx.doi.org/10.1111/bjh.13081
Roggero S, Quarello P, Vinciguerra T, Longo F, Piga A, Ramenghi U. Severe iron overload in Blackfan-Diamond anemia: a case-control study. Am J Hematol. 2009;84(11):729-732. https://dx.doi.org/10.1002/ajh.21541
Faivre L, Meerpohl J, Da Costa L, Marie I, Nouvel C, Gnekow A, Bender-Gotze C, Bauters F, Coiffier B, Peaud PY, Rispal P, Berrebi A, Berger C, Flesch M, Sagot P, Varet B, Niemeyer C, Tchernia G, Leblanc T. High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries. Haematologica. 2006;91(4):530-533. https://www.ncbi.nlm.nih.gov/pubmed/16537118
Strahm B, Loewecke F, Niemeyer CM, Albert M, Ansari M, Bader P, Bertrand Y, Burkhardt B, Da Costa LM, Ferster A, Fischer A, Gungor T, Gruhn B, Hainmann I, Kapp F, Lang P, Muller I, Schulz A, Szvetnik A, Wlodarski M, Noellke P, Leblanc T, Dalle JH. Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia. Blood Adv. 2020;4(8):1760-1769. https://dx.doi.org/10.1182/bloodadvances.2019001210
Miano M, Eikema DJ, de la Fuente J, Bosman P, Ghavamzadeh A, Smiers F, Sengelov H, Yesilipek A, Formankova R, Bader P, Perez MAD, Bertrand Y, Niemeyer C, Bron D, Ansari M, Bykova TA, Lanino E, Rovelli A, Gozdzik J, Satti TM, Bodova I, Wolfl M, Rocha VG, Mellgren K, Rascon J, Lange A, Meisel R, Beguin Y, Mozo Y, Krivan G, Sirvent A, Bruno B, Onofrillo D, Risitano AM, de Latour RP, Dufour C. Stem Cell Transplantation for Diamond-Blackfan Anemia. a Retrospective Study on Behalf of Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT). Blood. 2019;134. https://dx.doi.org/10.1182/blood-2019-124644
Fagioli F, Quarello P, Zecca M, Lanino E, Corti P, Favre C, Ripaldi M, Ramenghi U, Locatelli F, Prete A. Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry. Br J Haematol. 2014;165(5):673-681. https://dx.doi.org/10.1111/bjh.12787
Mugishima H, Ohga S, Ohara A, Kojima S, Fujisawa K, Tsukimoto I, Aplastic Anemia Committee of the Japanese Society of Pediatric H. Hematopoietic stem cell transplantation for Diamond-Blackfan anemia: a report from the Aplastic Anemia Committee of the Japanese Society of Pediatric Hematology. Pediatr Transplant. 2007;11(6):601-607. https://dx.doi.org/10.1111/j.1399-3046.2006.00616.x
Vlachos A, Federman N, Reyes-Haley C, Abramson J, Lipton JM. Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Bone Marrow Transplant. 2001;27(4):381-386. https://dx.doi.org/10.1038/sj.bmt.1702784
Vlachos A, Atsidaftos E, Lababidi ML, Muir E, Rogers ZR, Alhushki W, Bernstein J, Glader B, Gruner B, Hartung H, Knoll C, Loew T, Nalepa G, Narla A, Panigrahi AR, Sieff CA, Walkovich K, Farrar JE, Lipton JM. L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry. Pediatr Blood Cancer. 2020;67(12):e28748. https://dx.doi.org/10.1002/pbc.28748
Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM. Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Blood. 2012;119(16):3815-3819. https://dx.doi.org/10.1182/blood-2011-08-375972