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Diamond-Blackfan anemia 12(DBA12)

MedGen UID:: 816218
•Concept ID:: C3809888
•: Disease or Syndrome

Synonyms:	DBA12; RPL15-Related Diamond-Blackfan Anemia

Gene (location): Gene(s) directly associated with this condition or phenotype.	RPL15 (3p24.2)

Monarch Initiative:	MONDO:0014245
OMIM®:	615550

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]

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 DBA, see DBA1 (105650). http://www.omim.org/entry/615550

Clinical features

From HPO

Triphalangeal thumb

MedGen UID:: 66029
•Concept ID:: C0241397
•: Congenital Abnormality

A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.

See: Feature record | Search on this feature

Ventricular septal defect

MedGen UID:: 42366
•Concept ID:: C0018818
•: Congenital Abnormality

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.

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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

Normochromic anemia

MedGen UID:: 66731
•Concept ID:: C0235983
•: Finding

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Reticulocytopenia

MedGen UID:: 167812
•Concept ID:: C0858867
•: Finding

A reduced number of reticulocytes in the peripheral blood.

See: Feature record | Search on this feature

Elevated red cell adenosine deaminase level

MedGen UID:: 868156
•Concept ID:: C4022547
•: Finding

Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.

See: Feature record | Search on this feature

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Abnormality of blood and blood-forming tissues
Abnormality of limbs
- Triphalangeal thumb
Abnormality of metabolism/homeostasis
- Elevated red cell adenosine deaminase level
Abnormality of the cardiovascular system
- Ventricular septal defect

Term Hierarchy

GTR
MeSH

Disorder by Site
- Hematopoietic and Lymphoid System Disorder
  - Hematologic disorder
    - Non-Neoplastic Hematologic and Lymphocytic Disorder
      - Congenital hematological disorder
        Diamond-Blackfan anemia
        Diamond-Blackfan anemia 12

Professional guidelines

PubMed

The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics.

Vogel N, Schmugge M, Renella R, Waespe N, Hengartner H; Swiss Paediatric Oncology Group (SPOG) Hematology Working Group
Eur J Pediatr 2021 Dec;180(12):3581-3585. Epub 2021 Jun 10 doi: 10.1007/s00431-021-04146-4. PMID: 34110484

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
J Assoc Physicians India 2005 Jun;53:521-6. PMID: 16121806

See all (2)

Recent clinical studies

Etiology

Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.

Martin ES, Ferrer A, Mangaonkar AA, Khan SP, Kohorst MA, Joshi AY, Hogan WJ, Olteanu H, Moyer AM, Al-Kali A, Tefferi A, Chen D, Wudhikarn K, Go R, Viswanatha D, He R, Ketterling R, Nguyen PL, Oliveira JL, Gangat N, Lasho T, Patnaik MM
Am J Hematol 2021 Nov 1;96(11):1450-1460. Epub 2021 Aug 27 doi: 10.1002/ajh.26321. PMID: 34390506

The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics.

Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias.

Fan X, Desmond R, Winkler T, Young DJ, Dumitriu B, Townsley DM, Gutierrez-Rodrigues F, Lotter J, Valdez J, Sellers SE, Barranta ME, Shalhoub RN, Wu CO, Albitar M, Calvo KR, Young NS, Dunbar CE
Blood Adv 2020 Apr 28;4(8):1700-1710. doi: 10.1182/bloodadvances.2020001657. PMID: 32330244 Free PMC Article

Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.

van Dooijeweert B, van Ommen CH, Smiers FJ, Tamminga RYJ, Te Loo MW, Donker AE, Peters M, Granzen B, Gille HJJP, Bierings MB, MacInnes AW, Bartels M
Eur J Haematol 2018 Feb;100(2):163-170. Epub 2017 Dec 1 doi: 10.1111/ejh.12995. PMID: 29114930

Aplastic crisis.

Koch WC, Massey GV
Pediatr Rev 1990 Nov;12(5):142-8. doi: 10.1542/pir.12-5-142. PMID: 2284214

See all (40)

Diagnosis

Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.

The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics.

Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.

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

Aplastic crisis.

Koch WC, Massey GV
Pediatr Rev 1990 Nov;12(5):142-8. doi: 10.1542/pir.12-5-142. PMID: 2284214

See all (31)

Therapy

L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry.

Vlachos A, Atsidaftos E, Lababidi ML, Muir E, Rogers ZR, Alhushki W, Bernstein J, Glader B, Gruner B, Hartung H, Knoll C, Loew T, Nalepa G, Narla A, Panigrahi AR, Sieff CA, Walkovich K, Farrar JE, Lipton JM
Pediatr Blood Cancer 2020 Dec;67(12):e28748. Epub 2020 Oct 6 doi: 10.1002/pbc.28748. PMID: 33025707 Free PMC Article

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

Darrigo LG Junior, Loth G, Kuwahara C, Vieira A, Colturato V, Rodrigues AL, Arcuri L, Fernandes J, Macedo A, Tavares R, Gomes A, Ribeiro L, Seber A, Zecchin V, de Souza M, Calixto R, Pasquini R, Flowers M, Rocha V, Bonfim C
Eur J Haematol 2020 Oct;105(4):426-433. Epub 2020 Jul 2 doi: 10.1111/ejh.13463. PMID: 32525237

Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias.

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

Lahoti A, Harris YT, Speiser PW, Atsidaftos E, Lipton JM, Vlachos A
Pediatr Blood Cancer 2016 Feb;63(2):306-12. Epub 2015 Oct 23 doi: 10.1002/pbc.25780. PMID: 26496000 Free PMC Article

Diamond-Blackfan anemia, ribosome and erythropoiesis.

Da Costa L, Moniz H, Simansour M, Tchernia G, Mohandas N, Leblanc T
Transfus Clin Biol 2010 Sep;17(3):112-9. Epub 2010 Jul 23 doi: 10.1016/j.tracli.2010.06.001. PMID: 20655265 Free PMC Article

See all (34)

Prognosis

Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.

Hiregange DG, Rivalta A, Yonath A, Zimmerman E, Bashan A, Yonath H
FEBS Open Bio 2022 Jul;12(7):1419-1434. Epub 2022 Jun 6 doi: 10.1002/2211-5463.13444. PMID: 35583751 Free PMC Article

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

Rio S, Gastou M, Karboul N, Derman R, Suriyun T, Manceau H, Leblanc T, El Benna J, Schmitt C, Azouzi S, Larghéro J, Karim Z, Macias-Garcia A, Chen JJ, Hermine O, Courtois G, Puy H, Gouya L, Mohandas N, Da Costa L
Blood 2019 Mar 21;133(12):1358-1370. Epub 2019 Jan 30 doi: 10.1182/blood-2018-09-875674. PMID: 30700418 Free PMC Article

Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.

Diamond-Blackfan anemia, ribosome and erythropoiesis.

Da Costa L, Moniz H, Simansour M, Tchernia G, Mohandas N, Leblanc T
Transfus Clin Biol 2010 Sep;17(3):112-9. Epub 2010 Jul 23 doi: 10.1016/j.tracli.2010.06.001. PMID: 20655265 Free PMC Article

Aplastic crisis.

Koch WC, Massey GV
Pediatr Rev 1990 Nov;12(5):142-8. doi: 10.1542/pir.12-5-142. PMID: 2284214

See all (33)

Clinical prediction guides

Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.

Hiregange DG, Rivalta A, Yonath A, Zimmerman E, Bashan A, Yonath H
FEBS Open Bio 2022 Jul;12(7):1419-1434. Epub 2022 Jun 6 doi: 10.1002/2211-5463.13444. PMID: 35583751 Free PMC Article

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

Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias.

Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.

Platelet number and function in Diamond-Blackfan anemia.

Buchanan GR, Alter BP, Holtkamp CA, Walsh EG
Pediatrics 1981 Aug;68(2):238-41. PMID: 7267232

See all (30)

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: 28809446 Free PMC Article

See all (1)

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Diamond-Blackfan anemia 12(DBA12)

Disease characteristics

Additional description

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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