Perspectives of current understanding and therapeutics of Diamond-Blackan anemia

Bartels M, Bierings M. How I manage children with Diamond-Blackfan anaemia. Br J Haematol. 2019;184:123–33.

Article  PubMed  Google Scholar 

Kang J, Brajanovski N, Chan KT, Xuan J, Pearson RB, Sanij E. Ribosomal proteins and human diseases: molecular mechanisms and targeted therapy. Signal Transduct Target Ther. 2021;6:323.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dianzani I, Loreni F. Diamond-Blackfan anemia: a ribosomal puzzle. Haematologica. 2008 ;93:1601–4.

Article  CAS  PubMed  Google Scholar 

Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, et al. The genetic landscape of Diamond-Blackfan anemia. Am J Hum Genet. 2018;103:930–47.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu Y, Dahl M, Debnath S, Rothe M, Smith EM, Grahn THM, et al. Successful gene therapy of Diamond-Blackfan anemia in a mouse model and human CD34(+) cord blood hematopoietic stem cells using a clinically applicable lentiviral vector. Haematologica. 2022;107:446–56.

Article  CAS  PubMed  Google Scholar 

Josephs HW. Anaemia of infancy and early childhood. Medicine. 1936;15:307–451.

Article  Google Scholar 

Louis K, Diamond KB. Hypoplastic anemia. Am J Dis Child. 1938;56:464–7.

Google Scholar 

Gasser C. [Aplastic anemia (chronic erythroblastophthisis) and cortisone]. Schweiz Med Wochenschr. 1951;81:1241–2.

CAS  PubMed  Google Scholar 

Allen DM, Diamond LK. Congenital (erythroid) hypoplastic anemia: cortisone treated. Am J Dis Child. 1961;102:416–23.

Article  CAS  PubMed  Google Scholar 

August CS, King E, Githens JH, McIntosh K, Humbert JR, Greensheer A, et al. Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome). Blood. 1976;48:491–8.

Article  CAS  PubMed  Google Scholar 

Glader BE, Backer K, Diamond LK. Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. N Engl J Med. 1983;309:1486–90.

Article  CAS  PubMed  Google Scholar 

Gustavsson P, Willing TN, van Haeringen A, Tchernia G, Dianzani I, Donner M, et al. Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb. Nat Genet. 1997;16:368–71.

Article  CAS  PubMed  Google Scholar 

Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, et al. Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation. J Med Genet. 1997;34:779–82.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet. 1999;21:169–75.

Article  CAS  PubMed  Google Scholar 

Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, et al. Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. Blood. 2001;97:2145–50.

Article  CAS  PubMed  Google Scholar 

Klar J, Khalfallah A, Arzoo PS, Gazda HT, Dahl N. Recurrent GATA1 mutations in Diamond-Blackfan anaemia. Br J Haematol. 2014;166:949–51.

Article  CAS  PubMed  Google Scholar 

Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012;122:2439–43.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jaako P, Flygare J, Olsson K, Quere R, Ehinger M, Henson A, et al. Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia. Blood. 2011;118:6087–96.

Article  CAS  PubMed  Google Scholar 

Liu Y, Schmiderer L, Hjort M, Lang S, Bremborg T, Rydstrom A, et al. Engineered human Diamond-Blackfan anemia disease model confirms therapeutic effects of clinically applicable lentiviral vector at single-cell resolution. Haematologica. 2023;108:3095–109.

Voit RA, Corey SJ. Gene therapy for congenital marrow failure syndromes - no longer grasping at straws? Haematologica. 2023;108:2880–2882.

Vlachos A, Muir E. How I treat Diamond-Blackfan anemia. Blood. 2010;116:3715–23.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Da Costa L, Leblanc T, Mohandas N. Diamond-Blackfan anemia. Blood. 2020;136:1262–73.

Article  PubMed  PubMed Central  Google Scholar 

Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008;142:859–76.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Faivre L, Meerpohl J, Da Costa L, Marie I, Nouvel C, Gnekow A, et al. High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries. Haematologica. 2006;91:530–3.

PubMed  Google Scholar 

Flores Ballester E, Gil-Fernandez JJ, Vazquez Blanco M, Mesa JM, de Dios Garcia J, Tamayo AT, et al. Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare. Clin Case Rep. 2015;3:392–5.

Article  PubMed  PubMed Central  Google Scholar 

Fargo JH, Kratz CP, Giri N, Savage SA, Wong C, Backer K, et al. Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia. Br J Haematol. 2013;160:547–54.

Article  CAS  PubMed  Google Scholar 

Glader BE, Backer K. Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. Br J Haematol. 1988;68:165–8.

Article  CAS  PubMed  Google Scholar 

Matsson H, Davey EJ, Draptchinskaia N, Hamaguchi I, Ooka A, Leveen P, et al. Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Mol Cell Biol. 2004;24:4032–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Amsterdam A, Sadler KC, Lai K, Farrington S, Bronson RT, Lees JA, et al. Many ribosomal protein genes are cancer genes in zebrafish. PLoS Biol. 2004;2:E139.

Article  PubMed  PubMed Central  Google Scholar 

Gianferante MD, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, et al. Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Haematologica. 2021;106:1303–10.

Article  PubMed  Google Scholar 

Noel CB. Diamond-Blackfan anemia RPL35A: a case report. J Med Case Rep. 2019;13:185.

Article  PubMed  PubMed Central  Google Scholar 

Tamefusa K, Muraoka M, Washio K, Wakamatsu M, Shimada A. Late-onset familial Diamond-Blackfan anemia with neutropenia caused by RPL35A variant. Pediatr Int. 2022;64:e15275.

Article  PubMed  Google Scholar 

Gazda HT, Sheen MR, Vlachos A, Choesmel V, O’Donohue MF, Schneider H, et al. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008;83:769–80.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Quarello P, Garelli E, Carando A, Cillario R, Brusco A, Giorgio E, et al. 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;190:93–104.

Article  CAS  PubMed  Google Scholar 

Ferreira R, Ohneda K, Yamamoto M, Philipsen S. GATA1 function, a paradigm for transcription factors in hematopoiesis. Mol Cell Biol. 2005;25:1215–27.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, et al. Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med. 2014;20:748–53.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX, et al. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A. 2014;164A:2240–9.

Article  PubMed  Google Scholar 

O’Donohue MF, Da Costa L, Lezzerini M, Unal S, Joret C, Bartels M, et al. HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia. Blood. 2022;139:3111–26.

Article  PubMed  PubMed Central  Google Scholar 

Yang YM, Karbstein K. The chaperone Tsr2 regulates Rps26 release and reincorporation from mature ribosomes to enable a reversible, ribosome-mediated response to stress. Sci Adv. 2022;8:eabl4386.

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