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Congenital anemia

MedGen UID:
102361
Concept ID:
C0158995
Disease or Syndrome
Synonym: Anemia, congenital
SNOMED CT: Congenital anemia (63565007)
 
Monarch Initiative: MONDO:0000577

Definition

Anemia, the cause of which is present at birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital anemia

Professional guidelines

PubMed

Al-Kouatly HB, Makhamreh MM, Rice SM, Smith K, Harman C, Quinn A, Valcarcel BN, Firman B, Liu R, Hegde M, Critchlow E, Berger SI
Genet Med 2021 Jul;23(7):1325-1333. Epub 2021 Mar 8 doi: 10.1038/s41436-021-01121-0. PMID: 33686258
Steinberg-Shemer O, Tamary H
Mol Diagn Ther 2020 Aug;24(4):397-407. doi: 10.1007/s40291-020-00478-3. PMID: 32557003
Ikehara S
Ther Apher Dial 2003 Jun;7(3):292-7. doi: 10.1046/j.1526-0968.2003.00060.x. PMID: 12924603

Recent clinical studies

Etiology

Kelly S, Jacobs ES, Stone M, Keating SM, Lee TH, Chafets D, Heitman J, Dimapasoc M, Operskalski E, Hagar W, Vichinsky E, Busch MP, Norris PJ, Custer B; Recipient Epidemiology and Donor Evaluation Study (REDS-III)
PLoS One 2020;15(4):e0218880. Epub 2020 Apr 8 doi: 10.1371/journal.pone.0218880. PMID: 32267841Free PMC Article
Resnitzky P, Shaft D, Shalev H, Kapelushnik J, Dgany O, Krasnov T, Tamary H
Eur J Haematol 2017 Oct;99(4):366-371. Epub 2017 Aug 29 doi: 10.1111/ejh.12931. PMID: 28755517
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
Brown KE, Young NS
Stem Cells 1996 Mar;14(2):151-63. doi: 10.1002/stem.140151. PMID: 8991535
Brown KE, Young NS
Blood Rev 1995 Sep;9(3):176-82. doi: 10.1016/0268-960x(95)90023-3. PMID: 8563519

Diagnosis

Steinberg-Shemer O, Tamary H
Mol Diagn Ther 2020 Aug;24(4):397-407. doi: 10.1007/s40291-020-00478-3. PMID: 32557003
Resnitzky P, Shaft D, Shalev H, Kapelushnik J, Dgany O, Krasnov T, Tamary H
Eur J Haematol 2017 Oct;99(4):366-371. Epub 2017 Aug 29 doi: 10.1111/ejh.12931. PMID: 28755517
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
Heegaard ED, Brown KE
Clin Microbiol Rev 2002 Jul;15(3):485-505. doi: 10.1128/CMR.15.3.485-505.2002. PMID: 12097253Free PMC Article
Brown KE, Young NS
Annu Rev Med 1997;48:59-67. doi: 10.1146/annurev.med.48.1.59. PMID: 9046945

Therapy

Wang N, Lu H, Li L, Gong M, Cao Y
Hematology 2023 Dec;28(1):2235832. doi: 10.1080/16078454.2023.2235832. PMID: 37504499
Pinto VM, Derchi GE, Bacigalupo L, Pontali E, Forni GL
Hemoglobin 2020 May;44(3):218-220. Epub 2020 Jun 18 doi: 10.1080/03630269.2020.1779082. PMID: 32552139
Kelly S, Jacobs ES, Stone M, Keating SM, Lee TH, Chafets D, Heitman J, Dimapasoc M, Operskalski E, Hagar W, Vichinsky E, Busch MP, Norris PJ, Custer B; Recipient Epidemiology and Donor Evaluation Study (REDS-III)
PLoS One 2020;15(4):e0218880. Epub 2020 Apr 8 doi: 10.1371/journal.pone.0218880. PMID: 32267841Free PMC Article
Akiyama M, Yanagisawa T, Yuza Y, Yokoi K, Ariga M, Fujisawa K, Hoshi Y, Eto Y
Am J Hematol 2005 Apr;78(4):295-8. doi: 10.1002/ajh.20278. PMID: 15795909
Janov AJ, Leong T, Nathan DG, Guinan EC
Medicine (Baltimore) 1996 Mar;75(2):77-8. doi: 10.1097/00005792-199603000-00004. PMID: 8606629

Prognosis

Tüysüz B, Kasap B, Sarıtaş M, Alkaya DU, Bozlak S, Kıykım A, Durmaz A, Yıldırım T, Akpınar E, Apak H, Vural M
Bone 2023 Feb;167:116614. Epub 2022 Nov 15 doi: 10.1016/j.bone.2022.116614. PMID: 36400164
Landau D, Kapelushnik J, Harush MB, Marks K, Shalev H
J Pediatr Hematol Oncol 2015 Jan;37(1):60-2. doi: 10.1097/MPH.0000000000000064. PMID: 24309603
Beauchamp-Nicoud A, Da Costa L, Proust A, Rincé P, Saker S, Tchernia G
J Pediatr Hematol Oncol 2004 Dec;26(12):847-8. PMID: 15591911
Brown KE, Young NS
Annu Rev Med 1997;48:59-67. doi: 10.1146/annurev.med.48.1.59. PMID: 9046945
Brown KE, Young NS
Blood Rev 1995 Sep;9(3):176-82. doi: 10.1016/0268-960x(95)90023-3. PMID: 8563519

Clinical prediction guides

Forni GL, Gianesin B, Musallam KM, Longo F, Rosso R, Lisi R, Gamberini MR, Pinto VM, Graziadei G, Vitucci A, Bonetti F, Musto P, Piga A, Cappellini MD, Borgna-Pignatti C; Webthal® project
Am J Hematol 2023 Mar;98(3):381-387. Epub 2023 Jan 1 doi: 10.1002/ajh.26798. PMID: 36588408
Tüysüz B, Kasap B, Sarıtaş M, Alkaya DU, Bozlak S, Kıykım A, Durmaz A, Yıldırım T, Akpınar E, Apak H, Vural M
Bone 2023 Feb;167:116614. Epub 2022 Nov 15 doi: 10.1016/j.bone.2022.116614. PMID: 36400164
Al-Kouatly HB, Makhamreh MM, Rice SM, Smith K, Harman C, Quinn A, Valcarcel BN, Firman B, Liu R, Hegde M, Critchlow E, Berger SI
Genet Med 2021 Jul;23(7):1325-1333. Epub 2021 Mar 8 doi: 10.1038/s41436-021-01121-0. PMID: 33686258
Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Přistoupilová A, Hodaňová K, Vyleťal P, Hartmannová H, Stránecký V, Hůlková H, Barešová V, Jedličková I, Sovová J, Hnízda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL
Am J Hum Genet 2016 Jul 7;99(1):174-87. doi: 10.1016/j.ajhg.2016.05.028. PMID: 27392076Free PMC Article
Badhai J, Fröjmark AS, J Davey E, Schuster J, Dahl N
Biochim Biophys Acta 2009 Oct;1792(10):1036-42. Epub 2009 Aug 16 doi: 10.1016/j.bbadis.2009.08.002. PMID: 19689926Free PMC Article

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