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Diamond-Blackfan anemia 4(DBA4)

MedGen UID:
393906
•Concept ID:
C2675860
•
Disease or Syndrome
Synonyms: DBA4; RPS17-Related Diamond-Blackfan Anemia
 
Gene (location): RPS17 (15q25.2)
 
Monarch Initiative: MONDO:0012924
OMIM®: 612527

Disease characteristics

Excerpted from the GeneReview: Diamond-Blackfan Anemia
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Colin Sieff   view full author information

Additional description

From OMIM
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).  http://www.omim.org/entry/612527

Clinical features

From HPO
Atrial septal defect
MedGen UID:
6753
•Concept ID:
C0018817
•
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
See: Feature record | Search on this feature
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
See: Feature record | Search on this feature
Macrocytic anemia
MedGen UID:
1920
•Concept ID:
C0002886
•
Disease or Syndrome
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
See: Feature record | Search on this feature
Erythroid hypoplasia
MedGen UID:
488912
•Concept ID:
C0542035
•
Disease or Syndrome
Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
See: Feature record | Search on this feature
Reticulocytopenia
MedGen UID:
167812
•Concept ID:
C0858867
•
Finding
A reduced number of reticulocytes in the peripheral blood.
See: Feature record | Search on this feature
Neutropenia
MedGen UID:
163121
•Concept ID:
C0853697
•
Finding
An abnormally low number of neutrophils in the peripheral blood.
See: Feature record | Search on this feature
Abnormal facial shape
MedGen UID:
98409
•Concept ID:
C0424503
•
Finding
An abnormal morphology (form) of the face or its components.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment.
Li H, Lodish HF, Sieff CA
Hematol Oncol Clin North Am 2018 Aug;32(4):701-712. Epub 2018 Jun 5 doi: 10.1016/j.hoc.2018.04.005. PMID: 30047421Free PMC Article
Diamond-blackfan anemia: etiology, pathophysiology, and treatment.
Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854

Curated

Clinical utility gene card for: Diamond Blackfan anemia.
Vlachos A, Dahl N, Dianzani I, Lipton JM
Eur J Hum Genet 2011 May;19(5) Epub 2011 Jan 19 doi: 10.1038/ejhg.2010.247. PMID: 21248735Free PMC Article

Recent clinical studies

Etiology

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
Poor outcome after hematopoietic stem cell transplantation of patients with unclassified inherited bone marrow failure syndromes.
Lim YJ, Arbiv OA, Kalbfleisch ME, Klaassen RJ, Fernandez C, Rayar M, Steele M, Lipton JH, Cuvelier G, Pastore YD, Silva M, Brossard J, Michon B, Abish S, Sinha R, Corriveau-Bourque C, Breakey VR, Tole S, Goodyear L, Sung L, Zlateska B, Cada M, Dror Y
Eur J Haematol 2022 Apr;108(4):278-287. Epub 2022 Jan 13 doi: 10.1111/ejh.13733. PMID: 34897809
Short Stature in Patients with Diamond-Blackfan Anemia: A Cross-Sectional Study.
Wan Y, Gong X, Cheng S, Yin Z, Gao Y, Li J, Zong S, Zhang Y, Chen Y, Zheng R, Zhu X
J Pediatr 2022 Jan;240:177-185. Epub 2021 Sep 17 doi: 10.1016/j.jpeds.2021.09.015. PMID: 34543620
Inherited bone marrow failure syndromes: considerations pre- and posttransplant.
Alter BP
Blood 2017 Nov 23;130(21):2257-2264. doi: 10.1182/blood-2017-05-781799. PMID: 29167174Free PMC Article
Fanconi's anaemia and related bone marrow failure syndromes.
Dokal I
Br Med Bull 2006;77-78:37-53. Epub 2006 Sep 11 doi: 10.1093/bmb/ldl007. PMID: 16968690

Diagnosis

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
Bone marrow trephine biopsies from posterior superior iliac crest in neonates.
Bartakke S, Lukade U, Sethuratnam S
Pediatr Blood Cancer 2021 Apr;68(4):e28893. Epub 2021 Jan 23 doi: 10.1002/pbc.28893. PMID: 33484072
Fanconi's anaemia and related bone marrow failure syndromes.
Dokal I
Br Med Bull 2006;77-78:37-53. Epub 2006 Sep 11 doi: 10.1093/bmb/ldl007. PMID: 16968690
Managing anemia in a pediatric office practice: Part 2.
Segel GB, Hirsh MG, Feig SA
Pediatr Rev 2002 Apr;23(4):111-22. doi: 10.1542/pir.23-4-111. PMID: 11927743
Diamond-Blackfan anemia. Neonatal presentation as Rh incompatibility, hemolysis, and active erythropoiesis.
Freedman MH
Am J Pediatr Hematol Oncol 1985 Winter;7(4):327-30. PMID: 4083394

Therapy

Poor outcome after hematopoietic stem cell transplantation of patients with unclassified inherited bone marrow failure syndromes.
Lim YJ, Arbiv OA, Kalbfleisch ME, Klaassen RJ, Fernandez C, Rayar M, Steele M, Lipton JH, Cuvelier G, Pastore YD, Silva M, Brossard J, Michon B, Abish S, Sinha R, Corriveau-Bourque C, Breakey VR, Tole S, Goodyear L, Sung L, Zlateska B, Cada M, Dror Y
Eur J Haematol 2022 Apr;108(4):278-287. Epub 2022 Jan 13 doi: 10.1111/ejh.13733. PMID: 34897809
Short Stature in Patients with Diamond-Blackfan Anemia: A Cross-Sectional Study.
Wan Y, Gong X, Cheng S, Yin Z, Gao Y, Li J, Zong S, Zhang Y, Chen Y, Zheng R, Zhu X
J Pediatr 2022 Jan;240:177-185. Epub 2021 Sep 17 doi: 10.1016/j.jpeds.2021.09.015. PMID: 34543620
Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond-Blackfan anaemia.
Sjögren SE, Siva K, Soneji S, George AJ, Winkler M, Jaako P, Wlodarski M, Karlsson S, Hannan RD, Flygare J
Br J Haematol 2015 Nov;171(4):517-29. Epub 2015 Aug 25 doi: 10.1111/bjh.13632. PMID: 26305041Free PMC Article
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Comments and additional data on clinical aspects of Diamond-Blackfan syndrome.
Wang WC, Mentzer W, Alter B
Blood Cells 1978;4(1-2):215-8. PMID: 747771
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Historical and clinical aspects.
Diamond LK
Blood Cells 1978;4(1-2):209-13. PMID: 747770

Prognosis

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
Anemia as the Main Manifestation of Myelodysplastic Syndromes.
Santini V
Semin Hematol 2015 Oct;52(4):348-56. Epub 2015 Jun 30 doi: 10.1053/j.seminhematol.2015.06.002. PMID: 26404446
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
Fargo JH, Kratz CP, Giri N, Savage SA, Wong C, Backer K, Alter BP, Glader B
Br J Haematol 2013 Feb;160(4):547-54. Epub 2012 Dec 17 doi: 10.1111/bjh.12167. PMID: 23252420Free PMC Article
Diamond-Blackfan anaemia in the Italian population.
Ramenghi U, Garelli E, Valtolina S, Campagnoli MF, Timeus F, Crescenzio N, Mair M, Varotto S, D'Avanzo M, Nobili B, Massolo F, Mori PG, Locatelli F, Gustavsson P, Dahl N, Dianzani I
Br J Haematol 1999 Mar;104(4):841-8. doi: 10.1046/j.1365-2141.1999.01267.x. PMID: 10192448
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Historical and clinical aspects.
Diamond LK
Blood Cells 1978;4(1-2):209-13. PMID: 747770

Clinical prediction guides

Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
Da Costa L, Mohandas N, David-NGuyen L, Platon J, Marie I, O'Donohue MF, Leblanc T, Gleizes PE
Blood Cells Mol Dis 2024 May;106:102838. Epub 2024 Feb 17 doi: 10.1016/j.bcmd.2024.102838. PMID: 38413287
Short Stature in Patients with Diamond-Blackfan Anemia: A Cross-Sectional Study.
Wan Y, Gong X, Cheng S, Yin Z, Gao Y, Li J, Zong S, Zhang Y, Chen Y, Zheng R, Zhu X
J Pediatr 2022 Jan;240:177-185. Epub 2021 Sep 17 doi: 10.1016/j.jpeds.2021.09.015. PMID: 34543620
Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase.
Wilkes MC, Siva K, Chen J, Varetti G, Youn MY, Chae H, Ek F, Olsson R, Lundbäck T, Dever DP, Nishimura T, Narla A, Glader B, Nakauchi H, Porteus MH, Repellin CE, Gazda HT, Lin S, Serrano M, Flygare J, Sakamoto KM
Nat Commun 2020 Jul 3;11(1):3344. doi: 10.1038/s41467-020-17100-z. PMID: 32620751Free PMC Article
Anemia as the Main Manifestation of Myelodysplastic Syndromes.
Santini V
Semin Hematol 2015 Oct;52(4):348-56. Epub 2015 Jun 30 doi: 10.1053/j.seminhematol.2015.06.002. PMID: 26404446
L-Leucine improves the anaemia in models of Diamond Blackfan anaemia and the 5q- syndrome in a TP53-independent way.
Narla A, Payne EM, Abayasekara N, Hurst SN, Raiser DM, Look AT, Berliner N, Ebert BL, Khanna-Gupta A
Br J Haematol 2014 Nov;167(4):524-528. Epub 2014 Aug 7 doi: 10.1111/bjh.13069. PMID: 25098371Free PMC Article

Recent systematic reviews

Deferasirox for managing iron overload in people with thalassaemia.
Bollig C, Schell LK, Rücker G, Allert R, Motschall E, Niemeyer CM, Bassler D, Meerpohl JJ
Cochrane Database Syst Rev 2017 Aug 15;8(8):CD007476. doi: 10.1002/14651858.CD007476.pub3. PMID: 28809446Free PMC Article

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