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Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel. Wlodarski MW, et al. Lancet Haematol. 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. Lancet Haematol. 2024. PMID: 38697731 Review.
Diamond-Blackfan anaemia (DBA), first described over 80 years ago, is a congenital disorder of erythropoiesis with a predilection for birth defects and cancer. ...We propose new simplified diagnostic criteria, describe the genetics of DBA syndrome and its phe …
Diamond-Blackfan anaemia (DBA), first described over 80 years ago, is a congenital disorder of erythropoiesis with a pr …
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Russo R, Andolfo I, Manna F, Gambale A, Marra R, Rosato BE, Caforio P, Pinto V, Pignataro P, Radhakrishnan K, Unal S, Tomaiuolo G, Forni GL, Iolascon A. Russo R, et al. Am J Hematol. 2018 May;93(5):672-682. doi: 10.1002/ajh.25058. Epub 2018 Feb 24. Am J Hematol. 2018. PMID: 29396846 Free article.
Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond-Blackfan anemia; hemoly …
Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we incl …
Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.
Dietz AC, Savage SA, Vlachos A, Mehta PA, Bresters D, Tolar J, Bonfim C, Dalle JH, de la Fuente J, Skinner R, Boulad F, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP. Dietz AC, et al. Biol Blood Marrow Transplant. 2017 Sep;23(9):1422-1428. doi: 10.1016/j.bbmt.2017.05.022. Epub 2017 May 19. Biol Blood Marrow Transplant. 2017. PMID: 28533057 Free PMC article. Review.
Patients with inherited bone marrow failure syndromes (IBMFS), such as Fanconi anemia (FA), dyskeratosis congenita (DC), or Diamond Blackfan anemia (DBA), can have hematologic manifestations cured through hematopoietic cell transplantation (HCT). Subse …
Patients with inherited bone marrow failure syndromes (IBMFS), such as Fanconi anemia (FA), dyskeratosis congenita (DC), or Diamon …
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M. Bezzerri V, et al. Int J Mol Sci. 2020 Jun 30;21(13):4672. doi: 10.3390/ijms21134672. Int J Mol Sci. 2020. PMID: 32630050 Free PMC article. Review.
The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosome biogenesis. The classical IBMFS include Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), Fanco …
The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosom …
Diamond-Blackfan anemia: clinical features and treatment results in 4 cases.
Naithani R, Chandra J, Narayan S, Singh V, Dutta AK. Naithani R, et al. Hematology. 2006 Jun;11(3):193-5. doi: 10.1080/10245330600774777. Hematology. 2006. PMID: 17325961
Diamond-Blackfan anemia is a rare hematological disease characterized by selective marrow erythroid hypoplasia. ...The median age at presentation was 14 months with a median age of onset of pallor at 7.5 months. Mean Hb at presentation was 2.9 g/dl. Al …
Diamond-Blackfan anemia is a rare hematological disease characterized by selective marrow erythroid hypoplasia. ...The …
Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogenetique Hematologique (GFCH).
Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M. Cuccuini W, et al. Curr Res Transl Med. 2023 Oct-Dec;71(4):103423. doi: 10.1016/j.retram.2023.103423. Epub 2023 Oct 18. Curr Res Transl Med. 2023. PMID: 38016422
Other germline variants impacting biological processes, such as DNA repair, telomere biology, and ribosome biogenesis, may cause major syndromes including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syn …
Other germline variants impacting biological processes, such as DNA repair, telomere biology, and ribosome biogenesis, may cause major syndr …
Treatment of Diamond-Blackfan anaemia with haematopoietic growth factors, granulocyte-macrophage colony stimulating factor and interleukin 3: sustained remissions following IL-3.
Dunbar CE, Smith DA, Kimball J, Garrison L, Nienhuis AW, Young NS. Dunbar CE, et al. Br J Haematol. 1991 Oct;79(2):316-21. doi: 10.1111/j.1365-2141.1991.tb04540.x. Br J Haematol. 1991. PMID: 1958491
We have treated six transfusion-dependent, steroid-unresponsive, Diamond-Blackfan anaemia (DBA) patients with the recombinant human growth factors granulocyte-macrophage colony-stimulating factor (GM-CSF) and interleukin-3 (IL-3), administered sequentially wi …
We have treated six transfusion-dependent, steroid-unresponsive, Diamond-Blackfan anaemia (DBA) patients with the recom …
Multiple endocrine abnormalities in a child with Blackfan-Diamond anemia and hemochromatosis. Significant improvement of growth velocity and predicted adult height following growth hormone treatment despite liver damage.
Lanes R, Muller A, Palacios A. Lanes R, et al. J Pediatr Endocrinol Metab. 2000 Mar;13(3):325-8. doi: 10.1515/jpem.2000.13.3.325. J Pediatr Endocrinol Metab. 2000. PMID: 10714760
We evaluated a short, prepubertal 13.9 year-old boy with Blackfan-Diamond anemia and significant liver iron stores due to multiple blood transfusions and found him to have several endocrine abnormalities, including hypothyroidism, hypoparathyroidism, p …
We evaluated a short, prepubertal 13.9 year-old boy with Blackfan-Diamond anemia and significant liver iron stor …
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Rao PV, Lu X, Pattee P, Turner M, Nandgaonkar S, Paturi BT, Roberts CT Jr, Nagalla SR. Rao PV, et al. J Assoc Physicians India. 2005 Jun;53:521-6. J Assoc Physicians India. 2005. PMID: 16121806
The 147 known genes in this category belonged to following broad functional groups (%): enzyme (32), nucleic acid binding (22), ligand binding or carrier (10), signal transducer (9), transporter (7), structural protein (6), cell adhesion (3), tumor suppressor (3), transcri …
The 147 known genes in this category belonged to following broad functional groups (%): enzyme (32), nucleic acid binding (22), ligand bindi …