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Diamond-Blackfan anemia 3(DBA3)

MedGen UID:: 387892
•Concept ID:: C1857719
•: Disease or Syndrome

Synonyms:	DBA3; RPS24-Related Diamond-Blackfan Anemia

Gene (location): Gene(s) directly associated with this condition or phenotype.	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).

See: Feature record | Search on this feature

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.

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Increased mean corpuscular volume

MedGen UID:: 81303
•Concept ID:: C0302845
•: Finding

Larger than normal size of erythrocytes.

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

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.

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Abnormality of blood and blood-forming tissues
Abnormality of head or neck
- Webbed neck
Abnormality of metabolism/homeostasis
- Elevated red cell adenosine deaminase activity

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 3

Professional guidelines

PubMed

Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.

Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel
Lancet Haematol 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. PMID: 38697731

Hematopoietic growth factors for the treatment of inherited cytopenias.

Zeidler C, Welte K
Semin Hematol 2007 Jul;44(3):133-7. doi: 10.1053/j.seminhematol.2007.04.003. PMID: 17631177

Diamond-blackfan anemia: etiology, pathophysiology, and treatment.

Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854

See all (12)

Curated

Clinical utility gene card for: Diamond Blackfan anemia.

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: 21248735 Free PMC Article

Recent clinical studies

Etiology

Congenital Disorders of the Pediatric Thumb.

Nguyen JL, Ho CA
JBJS Rev 2022 Mar 1;10(3) doi: 10.2106/JBJS.RVW.21.00147. PMID: 35230999

Pediatric bone marrow failure: Clinical, hematological and targeted next generation sequencing data.

Chhabra P, Bhatia P, Singh M, Bansal D, Jain R, Varma N, Trehan A
Blood Cells Mol Dis 2021 Mar;87:102510. Epub 2020 Nov 5 doi: 10.1016/j.bcmd.2020.102510. PMID: 33197791

Managing the Unusual Causes of Fetal Anemia.

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

Diamond-Blackfan anemia.

Willig TN, Gazda H, Sieff CA
Curr Opin Hematol 2000 Mar;7(2):85-94. doi: 10.1097/00062752-200003000-00003. PMID: 10698294

Diamond-Blackfan anemia.

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

See all (80)

Diagnosis

Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.

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

Managing the Unusual Causes of Fetal Anemia.

Diamond-Blackfan anemia.

Willig TN, Gazda H, Sieff CA
Curr Opin Hematol 2000 Mar;7(2):85-94. doi: 10.1097/00062752-200003000-00003. PMID: 10698294

Diamond-Blackfan anemia.

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

See all (87)

Therapy

Pediatric bone marrow failure: Clinical, hematological and targeted next generation sequencing data.

Chhabra P, Bhatia P, Singh M, Bansal D, Jain R, Varma N, Trehan A
Blood Cells Mol Dis 2021 Mar;87:102510. Epub 2020 Nov 5 doi: 10.1016/j.bcmd.2020.102510. PMID: 33197791

Managing the Unusual Causes of Fetal Anemia.

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

Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3.

Gillio AP, Faulkner LB, Alter BP, Reilly L, Klafter R, Heller G, Young DC, Lipton JM, Moore MA, O'Reilly RJ
Blood 1993 Aug 1;82(3):744-51. PMID: 8338944

Diamond-blackfan anemia: etiology, pathophysiology, and treatment.

Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854

See all (73)

Prognosis

Managing the Unusual Causes of Fetal Anemia.

Hematopoietic stem cell transplantation for bone marrow failure syndromes in children.

Myers KC, Davies SM
Biol Blood Marrow Transplant 2009 Mar;15(3):279-92. doi: 10.1016/j.bbmt.2008.11.037. PMID: 19203719

Diamond-Blackfan anemia in Japan: clinical outcomes of prednisolone therapy and hematopoietic stem cell transplantation.

Ohga S, Mugishima H, Ohara A, Kojima S, Fujisawa K, Yagi K, Higashigawa M, Tsukimoto I; Aplastic Anemia Committee Japanese Society of Pediatric Hematology
Int J Hematol 2004 Jan;79(1):22-30. doi: 10.1007/BF02983529. PMID: 14979474

Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3.

Gillio AP, Faulkner LB, Alter BP, Reilly L, Klafter R, Heller G, Young DC, Lipton JM, Moore MA, O'Reilly RJ
Blood 1993 Aug 1;82(3):744-51. PMID: 8338944

Diamond-blackfan anemia: etiology, pathophysiology, and treatment.

Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854

See all (43)

Clinical prediction guides

Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.

Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A
J Med Genet 2024 Feb 21;61(3):239-243. doi: 10.1136/jmg-2023-109444. PMID: 37833059

Deferasirox for managing iron overload in people with thalassaemia.

Diamond-Blackfan anemia in Japan: clinical outcomes of prednisolone therapy and hematopoietic stem cell transplantation.

Diamond-Blackfan anemia.

Willig TN, Gazda H, Sieff CA
Curr Opin Hematol 2000 Mar;7(2):85-94. doi: 10.1097/00062752-200003000-00003. PMID: 10698294

Diamond-Blackfan anemia.

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

See all (73)