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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): 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]
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 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.
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
Normochromic anemia
MedGen UID:
66731
•Concept ID:
C0235983
•
Finding
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
Elevated red cell adenosine deaminase activity
MedGen UID:
1853120
•Concept ID:
C5872908
•
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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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

Recent clinical studies

Etiology

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
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
Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.
Giri N, Reed HD, Stratton P, Savage SA, Alter BP
Pediatr Blood Cancer 2018 Jan;65(1) Epub 2017 Aug 12 doi: 10.1002/pbc.26757. PMID: 28801981Free PMC Article
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
GATA factor mutations in hematologic disease.
Crispino JD, Horwitz MS
Blood 2017 Apr 13;129(15):2103-2110. Epub 2017 Feb 8 doi: 10.1182/blood-2016-09-687889. PMID: 28179280Free PMC Article

Diagnosis

Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
Li J, Su Y, Chen L, Lin Y, Ru K
Int J Lab Hematol 2023 Oct;45(5):766-773. Epub 2023 Jun 28 doi: 10.1111/ijlh.14126. PMID: 37376976
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.
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
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

Therapy

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: 32330244Free PMC Article
Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.
Giri N, Reed HD, Stratton P, Savage SA, Alter BP
Pediatr Blood Cancer 2018 Jan;65(1) Epub 2017 Aug 12 doi: 10.1002/pbc.26757. PMID: 28801981Free PMC Article
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
Long-term trial with the oral iron chelator 1,2-dimethyl-3-hydroxypyrid-4-one (L1). II. Clinical observations.
Bartlett AN, Hoffbrand AV, Kontoghiorghes GJ
Br J Haematol 1990 Oct;76(2):301-4. doi: 10.1111/j.1365-2141.1990.tb07888.x. PMID: 2094334
Application of bone marrow transplantation in leukaemia and aplastic anaemia.
Storb R, Santos GW
Clin Haematol 1983 Oct;12(3):721-37. doi: 10.1016/s0308-2261(83)80007-1. PMID: 6357579

Prognosis

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
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: 20655265Free PMC Article
Ribosomes and marrow failure: coincidental association or molecular paradigm?
Liu JM, Ellis SR
Blood 2006 Jun 15;107(12):4583-8. Epub 2006 Feb 28 doi: 10.1182/blood-2005-12-4831. PMID: 16507776
The natural history of severe anemia in cartilage-hair hypoplasia.
Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Mäkitie O
Am J Med Genet A 2005 Sep 15;138(1):35-40. doi: 10.1002/ajmg.a.30902. PMID: 16097009
Aplastic crisis.
Koch WC, Massey GV
Pediatr Rev 1990 Nov;12(5):142-8. doi: 10.1542/pir.12-5-142. PMID: 2284214

Clinical prediction guides

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: 32330244Free 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
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
Ribosomes and marrow failure: coincidental association or molecular paradigm?
Liu JM, Ellis SR
Blood 2006 Jun 15;107(12):4583-8. Epub 2006 Feb 28 doi: 10.1182/blood-2005-12-4831. PMID: 16507776
The natural history of severe anemia in cartilage-hair hypoplasia.
Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Mäkitie O
Am J Med Genet A 2005 Sep 15;138(1):35-40. doi: 10.1002/ajmg.a.30902. PMID: 16097009

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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