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Diamond-Blackfan anemia 20(DBA20)

MedGen UID:
1674961
•Concept ID:
C5193022
•
Disease or Syndrome
Synonym: DBA20
 
Gene (location): RPS15A (16p12.3)
 
Monarch Initiative: MONDO:0032670
OMIM®: 618313

Authors:

Clinical features

From HPO
Acetabular dysplasia
MedGen UID:
233069
•Concept ID:
C1328407
•
Anatomical Abnormality
A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.
See: Feature record | Search on this feature
Congenital total pulmonary venous return anomaly
MedGen UID:
1648157
•Concept ID:
C4551903
•
Disease or Syndrome
Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994).
See: Feature record | Search on this feature
Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
See: Feature record | Search on this feature
Erythroid hypoplasia
MedGen UID:
488912
•Concept ID:
C0542035
•
Disease or Syndrome
Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
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
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study.
Wan Y, Chen X, An W, Ruan M, Zhang J, Chang L, Zhang R, Zhu S, Zhang Y, Yang W, Guo Y, Yuan W, Zou Y, Chen Y, Zhu X
Int J Hematol 2016 Oct;104(4):430-9. Epub 2016 Jun 21 doi: 10.1007/s12185-016-2044-9. PMID: 27329125
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U
Haematologica 2010 Feb;95(2):206-13. Epub 2009 Sep 22 doi: 10.3324/haematol.2009.011783. PMID: 19773262Free PMC Article

Recent clinical studies

Etiology

Diamond-Blackfan anemia.
Da Costa LM, Marie I, Leblanc TM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440Free PMC Article
Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.
Kapralova K, Jahoda O, Koralkova P, Gursky J, Lanikova L, Pospisilova D, Divoky V, Horvathova M
Int J Mol Sci 2020 Dec 17;21(24) doi: 10.3390/ijms21249652. PMID: 33348919Free PMC Article
Ribosomal stress activates eEF2K-eEF2 pathway causing translation elongation inhibition and recruitment of terminal oligopyrimidine (TOP) mRNAs on polysomes.
Gismondi A, Caldarola S, Lisi G, Juli G, Chellini L, Iadevaia V, Proud CG, Loreni F
Nucleic Acids Res 2014 Nov 10;42(20):12668-80. Epub 2014 Oct 20 doi: 10.1093/nar/gku996. PMID: 25332393Free PMC Article
Molecular pathogenesis in Diamond-Blackfan anemia.
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
Bone marrow transplantation for Diamond-Blackfan anemia.
Mugishima H, Gale RP, Rowlings PA, Horowitz MM, Marmont AM, McCann SR, Sobocinski KA, Bortin MM
Bone Marrow Transplant 1995 Jan;15(1):55-8. PMID: 7742755

Diagnosis

Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A.
Gonzalez-Menendez P, Phadke I, Olive ME, Joly A, Papoin J, Yan H, Galtier J, Platon J, Kang SWS, McGraw KL, Daumur M, Pouzolles M, Kondo T, Boireau S, Paul F, Young DJ, Lamure S, Mirmira RG, Narla A, Cartron G, Dunbar CE, Boyer-Clavel M, Porat-Shliom N, Dardalhon V, Zimmermann VS, Sitbon M, Dever TE, Mohandas N, Da Costa L, Udeshi ND, Blanc L, Kinet S, Taylor N
Blood 2023 May 18;141(20):2520-2536. doi: 10.1182/blood.2022017584. PMID: 36735910Free PMC Article
Diamond-Blackfan anemia.
Da Costa LM, Marie I, Leblanc TM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440Free PMC Article
Diamond-Blackfan anemia.
Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755Free PMC Article
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
Molecular pathogenesis in Diamond-Blackfan anemia.
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

Therapy

Diamond-Blackfan anemia.
Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755Free 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
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
Deferasirox.
Stumpf JL
Am J Health Syst Pharm 2007 Mar 15;64(6):606-16. doi: 10.2146/ajhp060405. PMID: 17353569
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

Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.
Kapralova K, Jahoda O, Koralkova P, Gursky J, Lanikova L, Pospisilova D, Divoky V, Horvathova M
Int J Mol Sci 2020 Dec 17;21(24) doi: 10.3390/ijms21249652. PMID: 33348919Free PMC Article
Translation of upstream open reading frames in a model of neuronal differentiation.
Rodriguez CM, Chun SY, Mills RE, Todd PK
BMC Genomics 2019 May 20;20(1):391. doi: 10.1186/s12864-019-5775-1. PMID: 31109297Free PMC Article
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.
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
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
Bone marrow transplantation for Diamond-Blackfan anemia.
Mugishima H, Gale RP, Rowlings PA, Horowitz MM, Marmont AM, McCann SR, Sobocinski KA, Bortin MM
Bone Marrow Transplant 1995 Jan;15(1):55-8. PMID: 7742755

Clinical prediction guides

Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.
Kapralova K, Jahoda O, Koralkova P, Gursky J, Lanikova L, Pospisilova D, Divoky V, Horvathova M
Int J Mol Sci 2020 Dec 17;21(24) doi: 10.3390/ijms21249652. PMID: 33348919Free PMC Article
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
Effect of L-Leucine Therapy on Hematopoietic Function in Elderly Myelodysplastic Syndrome Patients.
Ito K, Hayashi T, Inaguma Y, Terazawa T, Ando M, Ando Y, Tsuge M, Kato A, Shimato A, Suzuki S, Kato S, Tomita A, Yamada S, Emi N
Biol Pharm Bull 2019 Oct 1;42(10):1651-1657. Epub 2019 Jul 25 doi: 10.1248/bpb.b19-00184. PMID: 31341143
Altered translation of GATA1 in Diamond-Blackfan anemia.
Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG
Nat Med 2014 Jul;20(7):748-53. Epub 2014 Jun 22 doi: 10.1038/nm.3557. PMID: 24952648Free PMC Article
Bone marrow transplantation for Diamond-Blackfan anemia.
Mugishima H, Gale RP, Rowlings PA, Horowitz MM, Marmont AM, McCann SR, Sobocinski KA, Bortin MM
Bone Marrow Transplant 1995 Jan;15(1):55-8. PMID: 7742755

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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