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Diamond-Blackfan anemia 13(DBA13)

MedGen UID:
863078
•Concept ID:
C4014641
•
Disease or Syndrome
Synonym: DBA13
 
Gene (location): RPS29 (14q21.3)
 
Monarch Initiative: MONDO:0014394
OMIM®: 615909

Authors:

Clinical features

From HPO
Normocytic anemia
MedGen UID:
39310
•Concept ID:
C0085577
•
Disease or Syndrome
A kind of anemia in which the volume of the red blood cells is normal.
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
Abnormal facial shape
MedGen UID:
98409
•Concept ID:
C0424503
•
Finding
An abnormal morphology (form) of the face or its components.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M
Int J Mol Sci 2020 Jun 30;21(13) doi: 10.3390/ijms21134672. PMID: 32630050Free PMC Article
Multiple endocrine abnormalities in a child with Blackfan-Diamond anemia and hemochromatosis. Significant improvement of growth velocity and predicted adult height following growth hormone treatment despite liver damage.
Lanes R, Muller A, Palacios A
J Pediatr Endocrinol Metab 2000 Mar;13(3):325-8. doi: 10.1515/jpem.2000.13.3.325. PMID: 10714760
Diamond-Blackfan anemia. Natural history and sequelae of treatment.
Janov AJ, Leong T, Nathan DG, Guinan EC
Medicine (Baltimore) 1996 Mar;75(2):77-8. doi: 10.1097/00005792-199603000-00004. PMID: 8606629

Recent clinical studies

Etiology

Etiologies and Outcomes of Normocytic Anemia in Children.
Equitz E, Powers JM, Kirk S
J Pediatr 2024 Aug;271:114041. Epub 2024 Mar 28 doi: 10.1016/j.jpeds.2024.114041. PMID: 38554748
Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia.
Lipton JM, Molmenti CLS, Desai P, Lipton A, Ellis SR, Vlachos A
Genes (Basel) 2021 Dec 26;13(1) doi: 10.3390/genes13010056. PMID: 35052397Free PMC Article
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M
Int J Mol Sci 2020 Jun 30;21(13) doi: 10.3390/ijms21134672. PMID: 32630050Free PMC Article
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
Genomic characterization of the inherited bone marrow failure syndromes.
Khincha PP, Savage SA
Semin Hematol 2013 Oct;50(4):333-47. doi: 10.1053/j.seminhematol.2013.09.002. PMID: 24246701Free PMC Article

Diagnosis

Etiologies and Outcomes of Normocytic Anemia in Children.
Equitz E, Powers JM, Kirk S
J Pediatr 2024 Aug;271:114041. Epub 2024 Mar 28 doi: 10.1016/j.jpeds.2024.114041. PMID: 38554748
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
Preimplantation HLA testing.
Verlinsky Y, Rechitsky S, Sharapova T, Morris R, Taranissi M, Kuliev A
JAMA 2004 May 5;291(17):2079-85. doi: 10.1001/jama.291.17.2079. PMID: 15126435
Diamond-Blackfan anemia.
Da Costa L, Willig TN, Fixler J, Mohandas N, Tchernia G
Curr Opin Pediatr 2001 Feb;13(1):10-5. doi: 10.1097/00008480-200102000-00002. PMID: 11176237
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

Therapy

Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M
Int J Mol Sci 2020 Jun 30;21(13) doi: 10.3390/ijms21134672. PMID: 32630050Free PMC Article
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
Outcome of allogeneic Hematopoietic Stem Cell Transplantation on Diamond-Blackfan anemia using busulfan-based myeloablative regimen.
Behfar M, Koochakzadeh L, Yazdanian N, Salajegheh P, Rostami T, Khodayari-Namini N, Ghavamzadeh A, Hamidieh AA
Turk J Pediatr 2019;61(3):407-412. doi: 10.24953/turkjped.2019.03.013. PMID: 31916719
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 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

Prognosis

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
Outcome of allogeneic Hematopoietic Stem Cell Transplantation on Diamond-Blackfan anemia using busulfan-based myeloablative regimen.
Behfar M, Koochakzadeh L, Yazdanian N, Salajegheh P, Rostami T, Khodayari-Namini N, Ghavamzadeh A, Hamidieh AA
Turk J Pediatr 2019;61(3):407-412. doi: 10.24953/turkjped.2019.03.013. PMID: 31916719
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 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. Natural history and sequelae of treatment.
Janov AJ, Leong T, Nathan DG, Guinan EC
Medicine (Baltimore) 1996 Mar;75(2):77-8. doi: 10.1097/00005792-199603000-00004. PMID: 8606629

Clinical prediction guides

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
Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia.
Iskander D, Wang G, Heuston EF, Christodoulidou C, Psaila B, Ponnusamy K, Ren H, Mokhtari Z, Robinson M, Chaidos A, Trivedi P, Trasanidis N, Katsarou A, Szydlo R, Palii CG, Zaidi MH, Al-Oqaily Q, Caputo VS, Roy A, Harrington Y, Karnik L, Naresh K, Mead AJ, Thongjuea S, Brand M, de la Fuente J, Bodine DM, Roberts I, Karadimitris A
Sci Transl Med 2021 Sep 8;13(610):eabf0113. doi: 10.1126/scitranslmed.abf0113. PMID: 34516827
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.
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
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 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

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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