U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Diamond-Blackfan anemia 3(DBA3)

MedGen UID:
387892
Concept ID:
C1857719
Disease or Syndrome
Synonyms: DBA3; RPS24-Related Diamond-Blackfan Anemia
 
Gene (location): RPS24 (10q22.3)
 
Monarch Initiative: MONDO:0012529
OMIM®: 610629

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 Diamond-Blackfan anemia, see DBA1 (105650).  http://www.omim.org/entry/610629

Clinical features

From HPO
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).
Persistence of hemoglobin F
MedGen UID:
68693
Concept ID:
C0239941
Finding
Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.
Increased mean corpuscular volume
MedGen UID:
81303
Concept ID:
C0302845
Finding
Larger than normal size of erythrocytes.
Reticulocytopenia
MedGen UID:
167812
Concept ID:
C0858867
Finding
A reduced number of reticulocytes in the peripheral blood.
Webbed neck
MedGen UID:
113154
Concept ID:
C0221217
Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.

Professional guidelines

PubMed

Dietz AC, Mehta PA, Vlachos A, Savage SA, Bresters D, Tolar J, Boulad F, Dalle JH, Bonfim C, de la Fuente J, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP
Biol Blood Marrow Transplant 2017 May;23(5):726-735. Epub 2017 Jan 20 doi: 10.1016/j.bbmt.2017.01.075. PMID: 28115275Free PMC Article
Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854
Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

Curated

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

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
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
Ito E, Konno Y, Toki T, Terui K
Int J Hematol 2010 Oct;92(3):413-8. Epub 2010 Sep 30 doi: 10.1007/s12185-010-0693-7. PMID: 20882441
Willig TN, Gazda H, Sieff CA
Curr Opin Hematol 2000 Mar;7(2):85-94. doi: 10.1097/00062752-200003000-00003. PMID: 10698294
Krijanovski OI, Sieff CA
Hematol Oncol Clin North Am 1997 Dec;11(6):1061-77. doi: 10.1016/s0889-8588(05)70483-4. PMID: 9443046

Diagnosis

Khincha PP, Savage SA
Semin Fetal Neonatal Med 2016 Feb;21(1):57-65. Epub 2015 Dec 24 doi: 10.1016/j.siny.2015.12.003. PMID: 26724991Free PMC Article
Ito E, Konno Y, Toki T, Terui K
Int J Hematol 2010 Oct;92(3):413-8. Epub 2010 Sep 30 doi: 10.1007/s12185-010-0693-7. PMID: 20882441
Dianzani I, Garelli E, Ramenghi U
Paediatr Drugs 2000 Sep-Oct;2(5):345-55. doi: 10.2165/00128072-200002050-00002. PMID: 11022796
Willig TN, Gazda H, Sieff CA
Curr Opin Hematol 2000 Mar;7(2):85-94. doi: 10.1097/00062752-200003000-00003. PMID: 10698294
Krijanovski OI, Sieff CA
Hematol Oncol Clin North Am 1997 Dec;11(6):1061-77. doi: 10.1016/s0889-8588(05)70483-4. PMID: 9443046

Therapy

Macečková Z, Kubíčková A, De Sanctis JB, Hajdúch M
Int J Mol Sci 2022 Feb 8;23(3) doi: 10.3390/ijms23031886. PMID: 35163808Free PMC Article
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
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
Dianzani I, Garelli E, Ramenghi U
Paediatr Drugs 2000 Sep-Oct;2(5):345-55. doi: 10.2165/00128072-200002050-00002. PMID: 11022796
Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854

Prognosis

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
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
Lipton JM
Semin Hematol 2006 Jul;43(3):167-77. doi: 10.1053/j.seminhematol.2006.04.002. PMID: 16822459
Freedman MH
Stem Cells 1993 Jul;11 Suppl 2:98-104. doi: 10.1002/stem.5530110817. PMID: 7691333
Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854

Clinical prediction guides

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
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
Dianzani I, Garelli E, Ramenghi U
Paediatr Drugs 2000 Sep-Oct;2(5):345-55. doi: 10.2165/00128072-200002050-00002. PMID: 11022796
Willig TN, Gazda H, Sieff CA
Curr Opin Hematol 2000 Mar;7(2):85-94. doi: 10.1097/00062752-200003000-00003. PMID: 10698294
Krijanovski OI, Sieff CA
Hematol Oncol Clin North Am 1997 Dec;11(6):1061-77. doi: 10.1016/s0889-8588(05)70483-4. PMID: 9443046

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...