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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): 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]
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 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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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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
Diamond-blackfan anemia: etiology, pathophysiology, and treatment.
Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854
Diagnosis and management of red cell aplasia in children.
Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

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: 21248735Free PMC Article

Recent clinical studies

Etiology

Probable digenic inheritance of Diamond-Blackfan anemia.
Furuta Y, Tinker RJ, Gulsevin A, Neumann SM, Hamid R, Cogan JD, Rives L, Liu Q, Chen HC, Joos KM, Phillips JA 3rd; Undiagnosed Diseases Network
Am J Med Genet A 2024 Mar;194(3):e63454. Epub 2023 Oct 27 doi: 10.1002/ajmg.a.63454. PMID: 37897121
Short Stature in Patients with Diamond-Blackfan Anemia: A Cross-Sectional Study.
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
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
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

Diagnosis

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
GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.
van Dooijeweert B, Kia SK, Dahl N, Fenneteau O, Leguit R, Nieuwenhuis E, van Solinge W, van Wijk R, Da Costa L, Bartels M
Genes (Basel) 2022 Feb 28;13(3) doi: 10.3390/genes13030447. PMID: 35328001Free PMC Article
Diamond-Blackfan anaemia.
Freedman MH
Baillieres Best Pract Res Clin Haematol 2000 Sep;13(3):391-406. doi: 10.1053/beha.2000.0084. PMID: 11030041
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

Therapy

Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag.
Duncan BB, Lotter JL, Superata J, Barranta ME, Machado T, Darden I, Venugopal S, Wu CO, Abkowitz JL, Dunbar CE, Young DJ
Br J Haematol 2024 May;204(5):2077-2085. Epub 2024 Mar 10 doi: 10.1111/bjh.19357. PMID: 38462764Free PMC Article
Nephrolithiasis in two patients on iron chelation therapy: A case report.
Dillon H, Baker Z, Pena A, Wang Y, Syed H, Sparks S
Transfus Apher Sci 2023 Jun;62(3):103702. Epub 2023 Mar 11 doi: 10.1016/j.transci.2023.103702. PMID: 37055329
Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems.
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
Short Stature in Patients with Diamond-Blackfan Anemia: A Cross-Sectional Study.
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
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

Prognosis

Growth hormone improves short stature in children with Diamond-Blackfan anemia.
Howell JC, Joshi SA, Hornung L, Khoury J, Harris RE, Rose SR
Pediatr Blood Cancer 2015 Mar;62(3):402-8. Epub 2014 Dec 9 doi: 10.1002/pbc.25341. PMID: 25492299
Diamond blackfan anemia: New paradigms for a "not so pure" inherited red cell aplasia.
Lipton JM
Semin Hematol 2006 Jul;43(3):167-77. doi: 10.1053/j.seminhematol.2006.04.002. PMID: 16822459
Diamond-Blackfan anaemia.
Freedman MH
Baillieres Best Pract Res Clin Haematol 2000 Sep;13(3):391-406. doi: 10.1053/beha.2000.0084. PMID: 11030041
Erythropoiesis in Diamond-Blackfan anemia and the role of interleukin 3 and steel factor.
Freedman MH
Stem Cells 1993 Jul;11 Suppl 2:98-104. doi: 10.1002/stem.5530110817. PMID: 7691333
Diamond-blackfan anemia: etiology, pathophysiology, and treatment.
Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854

Clinical prediction guides

Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
Da Costa L, Mohandas N, David-NGuyen L, Platon J, Marie I, O'Donohue MF, Leblanc T, Gleizes PE
Blood Cells Mol Dis 2024 May;106:102838. Epub 2024 Feb 17 doi: 10.1016/j.bcmd.2024.102838. PMID: 38413287
Transient erythroblastopenia due to a GATA1 variant in an infant female.
Yamashita M, Tomoda T, Mizuo A, Isoda T, Egawa M, Yoshida M, Toki T, Kudo K, Terui K, Ito E, Morio T, Takagi M
Pediatr Blood Cancer 2024 Mar;71(3):e30834. Epub 2023 Dec 27 doi: 10.1002/pbc.30834. PMID: 38149846
Diamond-Blackfan anemia associated with beta-thalassemia trait.
Tavil B, Cetin M, Kuşkonmaz B, Gümrük F
Am J Hematol 2006 Mar;81(3):214-5. doi: 10.1002/ajh.20530. PMID: 16493623
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

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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