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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:
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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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

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

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
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

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: 33025707Free 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
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: 26496000Free PMC Article
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.
Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM
Blood 2012 Apr 19;119(16):3815-9. Epub 2012 Feb 23 doi: 10.1182/blood-2011-08-375972. PMID: 22362038Free 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: 20655265Free PMC Article

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: 35583751Free 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: 30700418Free 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
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
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

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: 35583751Free PMC Article
A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia.
Yu L, Lemay P, Ludlow A, Guyot MC, Jones M, Mohamed FF, Saroya GA, Panaretos C, Schneider E, Wang Y, Myers G, Khoriaty R, Li Q, Franceschi R, Engel JD, Kaartinen V, Rothstein TL, Justice MJ, Kibar Z, Singh SA
Blood Adv 2021 Oct 26;5(20):4167-4178. doi: 10.1182/bloodadvances.2021004658. PMID: 34464976Free 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
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
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

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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