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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]
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.
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.
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).
Normochromic anemia
MedGen UID:
66731
Concept ID:
C0235983
Finding
Reticulocytopenia
MedGen UID:
167812
Concept ID:
C0858867
Finding
A reduced number of reticulocytes in the peripheral blood.
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.

Professional guidelines

PubMed

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
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

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

Diagnosis

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
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
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
Gelbart D
JAAPA 2014 Apr;27(4):36-44. doi: 10.1097/01.JAA.0000442702.95598.fc. PMID: 24662257
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

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
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
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
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
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

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
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
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
Martinez Barrio A, Eriksson O, Badhai J, Fröjmark AS, Bongcam-Rudloff E, Dahl N, Schuster J
PLoS One 2009 Jul 9;4(7):e6172. doi: 10.1371/journal.pone.0006172. PMID: 19587786Free PMC Article
Koch WC, Massey GV
Pediatr Rev 1990 Nov;12(5):142-8. doi: 10.1542/pir.12-5-142. PMID: 2284214

Clinical prediction guides

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
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
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
Martinez Barrio A, Eriksson O, Badhai J, Fröjmark AS, Bongcam-Rudloff E, Dahl N, Schuster J
PLoS One 2009 Jul 9;4(7):e6172. doi: 10.1371/journal.pone.0006172. PMID: 19587786Free PMC Article
Buchanan GR, Alter BP, Holtkamp CA, Walsh EG
Pediatrics 1981 Aug;68(2):238-41. PMID: 7267232

Recent systematic reviews

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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