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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

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
Ikehara S
Exp Hematol 2001 Jun;29(6):661-9. doi: 10.1016/s0301-472x(01)00645-2. PMID: 11378260

Recent clinical studies

Etiology

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
Nieto JM, Rochas-López S, González-Fernández FA, Villegas-Martínez A, Bolaños-Calderón E, Salido-Fiérrez E, Cela E, Huerta-Aragoneses J, Ordoñez-García M, Muruzábal-Sitges MJ, Abio-Calvete M, Sevilla Navarro J, de la Iglesia S, Morado M, San Román-Pacheco S, Martín-Mateos ML, Recasens-Flores MV, Benavente-Cuesta C, Ropero-Gradilla P, Members Of The Erithropatology Working Group
Clin Chim Acta 2022 Jun 1;531:112-119. Epub 2022 Mar 26 doi: 10.1016/j.cca.2022.03.024. PMID: 35351432
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
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

Diagnosis

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
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
Servey JT, Reamy BV, Hodge J
Am Fam Physician 2007 Feb 1;75(3):373-6. PMID: 17304869
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

Therapy

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
Rigano P, De Franceschi L, Sainati L, Piga A, Piel FB, Cappellini MD, Fidone C, Masera N, Palazzi G, Gianesin B, Forni GL; Italian Multicenter Study of Hydroxyurea in Sickle Cell Anemia Investigators
Blood Cells Mol Dis 2018 Mar;69:82-89. Epub 2017 Oct 9 doi: 10.1016/j.bcmd.2017.08.017. PMID: 29107441
Colombatti R, Palazzi G, Masera N, Notarangelo LD, Bonetti E, Samperi P, Barone A, Perrotta S, Facchini E, Miano M, Del Vecchio GC, Guerzoni ME, Corti P, Menzato F, Cesaro S, Casale M, Rigano P, Forni GL, Russo G, Sainati L; Italian Multicenter Study of Hydroxyurea in Sickle Cell Anemia Investigators
Pediatr Blood Cancer 2018 Feb;65(2) Epub 2017 Sep 4 doi: 10.1002/pbc.26774. PMID: 28868627
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

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
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
Colombatti R, Palazzi G, Masera N, Notarangelo LD, Bonetti E, Samperi P, Barone A, Perrotta S, Facchini E, Miano M, Del Vecchio GC, Guerzoni ME, Corti P, Menzato F, Cesaro S, Casale M, Rigano P, Forni GL, Russo G, Sainati L; Italian Multicenter Study of Hydroxyurea in Sickle Cell Anemia Investigators
Pediatr Blood Cancer 2018 Feb;65(2) Epub 2017 Sep 4 doi: 10.1002/pbc.26774. PMID: 28868627
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
More TA, Dongerdiye R, Devendra R, Warang PP, Kedar PS
Ann Hematol 2020 Apr;99(4):715-727. Epub 2020 Feb 28 doi: 10.1007/s00277-020-03955-1. PMID: 32112123
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

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