Research & Literature

Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia.

Jaako P, Debnath S, Olsson K, et al.

Leukemia 2015; (29(11)):2221-9 doi:10.1038/leu.2015.128.

Occurrence of colon tumors in a 16-year-old Japanese boy after hematopoietic stem cell transplantation for Diamond Blackfan anemia at age of 4: a case report.

Matsuda I, Tsuchida YA, Toyoshima F, et al.

International journal of clinical and experimental pathology 2015; (8(5)):5938-43.

Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR).

Lahoti A, Harris YT, Speiser PW, et al.

Pediatric blood & cancer 2016; (63(2)):306-12 doi:10.1002/pbc.25780.

Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.

Dalle JH, Peffault de Latour R

International journal of hematology 2016; (103(4)):373-9 doi:10.1007/s12185-016-1951-0.

Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis.

Papneja K, Bhatt MD, Kirby-Allen M, et al.

Pediatric blood & cancer 2016; (63(8)):1480-3 doi:10.1002/pbc.25995.

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.

Steinberg-Shemer O, Keel S, Dgany O, et al.

Journal of pediatric hematology/oncology 2016; (38(7)):e260-2 doi:10.1097/MPH.0000000000000587.

Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia.

Utsugisawa T, Uchiyama T, Toki T, et al.

Blood cells, molecules & diseases 2016; (59()):31-6.

Parvovirus B19.

Landry ML

Microbiology spectrum 2016; (4(3)) doi:10.1128/microbiolspec.DMIH2-0008-2015.

Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis.

Juli G, Gismondi A, Monteleone V, et al.

Scientific reports 2016; (6()):35026 doi:10.1038/srep35026.

Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.

Ichimura T, Yoshida K, Okuno Y, et al.

International journal of hematology 2017; (105(4)):515-520 doi:10.1007/s12185-016-2151-7.

Pure red cell aplasia.

Means RT

Hematology. American Society of Hematology. Education Program 2016; (2016(1)):51-56 doi:10.1182/asheducation-2016.1.51.

Mid-life extra-haematopoetic manifestations of Diamond-Blackfan anaemia.

Muir C, Dodds A, Samaras K

Endocrinology, diabetes & metabolism case reports 2017; (2017()) doi:10.1530/EDM-16-0141.

Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.

Carlston CM, Afify ZA, Palumbos JC, et al.

American journal of medical genetics. Part A 2017; (173(10)):2622-2627 doi:10.1002/ajmg.a.38360.

Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.

Arbiv OA, Cuvelier G, Klaassen RJ, et al.

Clinical genetics 2018; (93(2)):320-328 doi:10.1111/cge.13158.

Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.

Da Costa L, O'Donohue MF, van Dooijeweert B, et al.

European journal of medical genetics 2018; (61(11)):664-673 doi:10.1016/j.ejmg.2017.10.017.

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis.

Khajuria RK, Munschauer M, Ulirsch JC, et al.

Cell 2018; (173(1)):90-103.e19 doi:10.1016/j.cell.2018.02.036.

Assessment of liver and cardiac iron overload using MRI in patients with chronic anemias in Latin American countries: results from ASIMILA study.

Cancado R, Watman NP, Lobo C, et al.

Hematology (Amsterdam, Netherlands) 2018; (23(9)):676-682 doi:10.1080/10245332.2018.1461292.

Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment.

Li H, Lodish HF, Sieff CA

Hematology/oncology clinics of North America 2018; (32(4)):701-712 doi:10.1016/j.hoc.2018.04.005.

[Diagnostic targets and exosome sequence analysis of Diamond-Blackfan anemia in Japan].

Toki T, Ito E

[Rinsho ketsueki] The Japanese journal of clinical hematology 2018; (59(7)):945-952 doi:10.11406/rinketsu.59.945.

An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia.

Da Costa L, Narla A, Mohandas N

F1000Research 2018; (7()) doi:10.12688/f1000research.15542.1.

Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.

Lee PY

Frontiers in pediatrics 2018; (6()):282 doi:10.3389/fped.2018.00282.

Emerging Therapeutic Approaches for Diamond Blackfan Anemia.

Aspesi A, Borsotti C, Follenzi A

Current gene therapy 2018; (18(6)):327-335 doi:10.2174/1566523218666181109124538.

The Genetic Landscape of Diamond-Blackfan Anemia.

Ulirsch JC, Verboon JM, Kazerounian S, et al.

American journal of human genetics 2018; (103(6)):930-947 doi:10.1016/j.ajhg.2018.10.027.

Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1.

Rio S, Gastou M, Karboul N, et al.

Blood 2019; (133(12)):1358-1370 doi:10.1182/blood-2018-09-875674.

Transient Erythroblastopenia of Childhood: A Review for the Pediatric Emergency Medicine Physician.

Burns RA, Woodward GA

Pediatric emergency care 2019; (35(3)):237-240 doi:10.1097/PEC.0000000000001760.

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.

Özen S, Batu ED, Taşkıran EZ, et al.

The Journal of rheumatology 2020; (47(1)):117-125 doi:10.3899/jrheum.181384.

Diamond-Blackfan anemia RPL35A: a case report.

Noel CB

Journal of medical case reports 2019; (13(1)):185 doi:10.1186/s13256-019-2127-3.

Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient.

Shi X, Huang X, Zhang Y, Cui X

BMC medical genetics 2019; (20(1)):120 doi:10.1186/s12881-019-0848-1.

Outcome of allogeneic Hematopoietic Stem Cell Transplantation on Diamond-Blackfan anemia using busulfan-based myeloablative regimen.

Behfar M, Koochakzadeh L, Yazdanian N, et al.

The Turkish journal of pediatrics 2019; (61(3)):407-412.

Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia.

Strahm B, Loewecke F, Niemeyer CM, et al.

Blood advances 2020; (4(8)):1760-1769 doi:10.1182/bloodadvances.2019001210.

Hematopoietic cell transplantation for Diamond Blackfan anemia: A report from the Pediatric Group of the Brazilian Bone Marrow Transplantation Society.

Darrigo LG, Loth G, Kuwahara C, et al.

European journal of haematology 2020; (105(4)):426-433 doi:10.1111/ejh.13463.

Moxibustion with deferasirox results in safe, accelerated, and sustained cardiac iron chelation for a young Diamond Blackfan Anemia patient: An integrative case report.

Marie EF

Explore (New York, N.Y.) 2021; (17(3)):239-246 doi:10.1016/j.explore.2020.05.011.

Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.

Bezzerri V, Api M, Allegri M, et al.

International journal of molecular sciences 2020; (21(13)) doi:10.3390/ijms21134672.

Diamond-Blackfan anemia.

Da Costa L, Leblanc T, Mohandas N

Blood 2020; (136(11)):1262-1273 doi:10.1182/blood.2019000947.

Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia.

Koyamaishi S, Kamio T, Kobayashi A, et al.

Bone marrow transplantation 2021; (56(5)):1013-1020 doi:10.1038/s41409-020-01056-1.

Stem Cell Transplantation for Diamond-Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT).

Miano M, Eikema DJ, de la Fuente J, et al.

Transplantation and cellular therapy 2021; (27(3)):274.e1-274.e5 doi:10.1016/j.jtct.2020.12.024.

Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: Preliminary recommendations from the Diamond Blackfan Anemia Registry.

Lipton JM, Molmenti CLS, Hussain M, et al.

Pediatric blood & cancer 2021; (68(8)):e28984 doi:10.1002/pbc.28984.

Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia.

Iskander D, Wang G, Heuston EF, et al.

Science translational medicine 2021; (13(610)):eabf0113 doi:10.1126/scitranslmed.abf0113.

Enzymatic Changes in Red Blood Cells of Diamond-Blackfan Anemia.

Utsugisawa T, Uchiyama T, Toki T, et al.

The Tohoku journal of experimental medicine 2021; (255(1)):49-55 doi:10.1620/tjem.255.49.

Short Stature in Patients with Diamond-Blackfan Anemia: A Cross-Sectional Study.

Wan Y, Gong X, Cheng S, et al.

The Journal of pediatrics 2022; (240()):177-185 doi:10.1016/j.jpeds.2021.09.015.

[Deferasirox and Complex Proximal Tubulopathy. Presentation of two clinical cases].

Niño Taravilla C, Cervera Bravo Á, Otaola Arca H, et al.

Andes pediatrica : revista Chilena de pediatria 2021; (92(4)):584-589 doi:10.32641/andespediatr.v92i4.3154.

Anti Thymocyte Globulin-Based Treatment for Acquired Bone Marrow Failure in Adults.

Tjon JM, Langemeijer SMC, Halkes CJM

Cells 2021; (10(11)) doi:10.3390/cells10112905.

Diamond-Blackfan anemia.

Da Costa LM, Marie I, Leblanc TM

Hematology. American Society of Hematology. Education Program 2021; (2021(1)):353-360 doi:10.1182/hematology.2021000314.

Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia.

Lipton JM, Molmenti CLS, Desai P, et al.

Genes 2021; (13(1)) doi:10.3390/genes13010056.

GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.

van Dooijeweert B, Kia SK, Dahl N, et al.

Genes 2022; (13(3)) doi:10.3390/genes13030447.

Case Report: Pure Red Cell Aplasia Caused by Refractory Parvovirus B19 Infection After Pancreas Transplantation Alone.

Lindahl JP, Barlinn R, Abrahamsen IW, et al.

Frontiers in medicine 2022; (9()):849783 doi:10.3389/fmed.2022.849783.

Decoding the pathogenesis of Diamond-Blackfan anemia using single-cell RNA-seq.

Wang B, Wang C, Wan Y, et al.

Cell discovery 2022; (8(1)):41 doi:10.1038/s41421-022-00389-z.

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19.

Cole S, Giri N, Alter BP, Gianferante DM

Frontiers in genetics 2022; (13()):914141 doi:10.3389/fgene.2022.914141.

Diamond-Blackfan anaemia with iron overload: A serious issue.

Quarello P, Ramenghi U, Fagioli F

British journal of haematology 2022; (199(2)):171-172 doi:10.1111/bjh.18393.

Transfusion burden in early childhood plays an important role in iron overload in Diamond-Blackfan anaemia.

de Wilde JRA, van Dooijeweert B, van Vuren AJ, et al.

EJHaem 2022; (3(4)):1300-1304 doi:10.1002/jha2.524.

[Endocrine disorders in patients with transfusion-dependent hereditary anemias].

Vitebskaya AV, Bugakova ES, Pisareva EA, Tikhonovich YV

Problemy endokrinologii 2022; (68(6)):121-130 doi:10.14341/probl13149.

Unusual Association of Diamond-Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review.

Moisa SM, Spoiala EL, Trandafir LM, et al.

Medicina (Kaunas, Lithuania) 2023; (59(2)) doi:10.3390/medicina59020362.

Hematopoietic cell transplantation and gene therapy for Diamond-Blackfan anemia: state of the art and science.

Bhoopalan SV, Suryaprakash S, Sharma A, Wlodarski MW

Frontiers in oncology 2023; (13()):1236038 doi:10.3389/fonc.2023.1236038.

The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.

Pelagiadis I, Kyriakidis I, Katzilakis N, et al.

Children (Basel, Switzerland) 2023; (10(11)) doi:10.3390/children10111812.

A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature.

Dorenkamp M, Porret N, Diepold M, Rovó A

Medicina (Kaunas, Lithuania) 2023; (59(11)) doi:10.3390/medicina59111953.

Posttransplant complications in patients with marrow failure syndromes: are we improving long-term outcomes?

Hudda Z, Myers KC

Hematology. American Society of Hematology. Education Program 2023; (2023(1)):141-148 doi:10.1182/hematology.2023000471.

Diagnosing Transient Erythroblastopenia of Childhood: A Review for Pediatricians.

Mejía Sang ME, Mendez M

Pediatric annals 2024; (53(1)):e34-e36 doi:10.3928/19382359-20231113-02.

Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?

Da Costa L, Mohandas N, David-NGuyen L, et al.

Blood cells, molecules & diseases 2024; (106()):102838 doi:10.1016/j.bcmd.2024.102838.

[A child with persistent anaemia].

Gunnes MW, Benneche A, Bechensteen AG

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke 2024; (144(4)) doi:10.4045/tidsskr.23.0415.

Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.

Wlodarski MW, Vlachos A, Farrar JE, et al.

The Lancet. Haematology 2024; (11(5)):e368-e382 doi:10.1016/S2352-3026(24)00063-2.

Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond-Blackfan Anemia May Be Overlooked.

Soltanova G, Avcu Oral N, Gümrük F, et al.

Turkish archives of pediatrics 2024; (59(4)):364-369 doi:10.5152/TurkArchPediatr.2024.23193.

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

Vanlerberghe C, Frénois F, Smol T, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(12)):101266 doi:10.1016/j.gim.2024.101266.

Preclinical development of lentiviral vector gene therapy for Diamond-Blackfan anemia syndrome.

Bhoopalan SV, Mayuranathan T, Liu N, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2025; (33(7)):3086-3100 doi:10.1016/j.ymthe.2024.12.020.

Diagnosis of Diamond-Blackfan anemia in adulthood: case series and review of the literature.

Versino F, Bianchi P, Fermo E, et al.

Orphanet journal of rare diseases 2024; (19(1)):470 doi:10.1186/s13023-024-03490-6.

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.

Karger LM, Webb BD, Edelmann L, et al.

American journal of medical genetics. Part A 2025; (197(5)):e63954 doi:10.1002/ajmg.a.63954.

Immunodeficiency in children with Diamond Blackfan and Diamond Blackfan like anemia.

Ragab I, Makkeyah S, Hassan N, et al.

Blood cells, molecules & diseases 2025; (111()):102911 doi:10.1016/j.bcmd.2025.102911.

Spectrum of Pure Red Cell Aplasia in a Tertiary Care Hospital in Northeast India.

Dey B, Raphael V, Shangpliang DM, et al.

Cureus 2025; (17(2)):e79364 doi:10.7759/cureus.79364.

Diagnosis and treatment of Diamond-Blackfan anemia and Pierre-Robin sequence caused by a novel mutation of RPS28 gene.

Lin S, Hou L, Li X, et al.

Hematology (Amsterdam, Netherlands) 2025; (30(1)):2481688 doi:10.1080/16078454.2025.2481688.

Case Report: Clinical management of a severe DBA patient with a novel RPS19 mutation.

Zhou J, Zhong J, Zhao Y, et al.

Frontiers in pediatrics 2025; (13()):1590183 doi:10.3389/fped.2025.1590183.

[Neonatal Diamond-Blackfan anemia: a case report].

Wei HL, Han TY, Zhu XH, Guan S

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2025; (27(10)):1276-1280 doi:10.7499/j.issn.1008-8830.2504056.

Irradiation-Free Reduced Intensity Conditioning Stem Cell Transplantation for Young Patients With Diamond-Blackfan Anemia Syndrome Is Well-Tolerated and Effective.

Yu H, Anderson EJ, Schiff DE, Gloude NJ

Pediatric blood & cancer 2026; (73(3)):e70007 doi:10.1002/pbc.70007.

Hematologic Landscape of Adult Patients With Diamond-Blackfan Anemia Syndrome.

Lecornec N, de Fontbrune FS, Forcade E, et al.

American journal of hematology 2026; (101(4)):687-696 doi:10.1002/ajh.70197.

Umbilical cord blood transplantation in children with Diamond-Blackfan anemia.

Volt F, Akhoudas M, Kenzey C, et al.

Bone marrow transplantation 2026; (61(6)):705-710 doi:10.1038/s41409-026-02852-x.

Survival After Hematopoietic Stem Cell Transplantation in Diamond-Blackfan Anemia Syndrome: The Role of Iron Overload-A Systematic Review.

Kuppens GZL, Kiakou E, de Zwart L, et al.

Pediatric blood & cancer 2026; (73(11)):e70664 doi:10.1002/1545-5017.70664.

Post-Transplant Cyclophosphamide-Based Related Haploidentical Transplantation for Adult Diamond-Blackfan Anemia: Long-Term Survival and Review.

Sakakibara T, Kobayashi S, Ito T, et al.

Journal of hematology 2026; (15(4)):214-218 doi:10.14740/jh2220.