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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
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
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):88-95. doi: 10.1182/asheducation-2017.1.88. PMID: 29222241Free PMC Article
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
Role of ribosomal protein mutations in tumor development (Review).
Goudarzi KM, Lindström MS
Int J Oncol 2016 Apr;48(4):1313-24. Epub 2016 Feb 9 doi: 10.3892/ijo.2016.3387. PMID: 26892688Free PMC Article

Diagnosis

Integrated proteogenomic analysis for inherited bone marrow failure syndrome.
Wakamatsu M, Muramatsu H, Sato H, Ishikawa M, Konno R, Nakajima D, Hamada M, Okuno Y, Kawashima Y, Hama A, Ito M, Iwafuchi H, Takahashi Y, Ohara O
Leukemia 2024 Jun;38(6):1256-1265. Epub 2024 May 13 doi: 10.1038/s41375-024-02263-1. PMID: 38740980Free PMC Article
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
A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.
Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589
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
Diamond-Blackfan anemia and nutritional deficiency-induced anemia in children.
Gelbart D
JAAPA 2014 Apr;27(4):36-44. doi: 10.1097/01.JAA.0000442702.95598.fc. PMID: 24662257

Therapy

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
Managing the Unusual Causes of Fetal Anemia.
Maisonneuve E, Ben M'Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N'Dour C, Mailloux A, Cortey A, Jouannic JM
Fetal Diagn Ther 2020;47(2):156-164. Epub 2019 Sep 10 doi: 10.1159/000501554. PMID: 31505487
Diamond-blackfan anemia and cyclosporine therapy revisited.
Alessandri AJ, Rogers PC, Wadsworth LD, Davis JH
J Pediatr Hematol Oncol 2000 Mar-Apr;22(2):176-9. doi: 10.1097/00043426-200003000-00020. PMID: 10779036
Diamond-blackfan anemia: etiology, pathophysiology, and treatment.
Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854

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
Managing the Unusual Causes of Fetal Anemia.
Maisonneuve E, Ben M'Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N'Dour C, Mailloux A, Cortey A, Jouannic JM
Fetal Diagn Ther 2020;47(2):156-164. Epub 2019 Sep 10 doi: 10.1159/000501554. PMID: 31505487
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
Chronic lymphocytic leukemia-associated pure red cell aplasia.
D'Arena G, Cascavilla N
Int J Immunopathol Pharmacol 2009 Apr-Jun;22(2):279-86. doi: 10.1177/039463200902200204. PMID: 19505381
Diamond-blackfan anemia: etiology, pathophysiology, and treatment.
Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854

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
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.
Volejnikova J, Vojta P, Urbankova H, Mojzíkova R, Horvathova M, Hochova I, Cermak J, Blatny J, Sukova M, Bubanska E, Feketeova J, Prochazkova D, Horakova J, Hajduch M, Pospisilova D
Blood Cells Mol Dis 2020 Mar;81:102380. Epub 2019 Nov 11 doi: 10.1016/j.bcmd.2019.102380. PMID: 31855845
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

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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