U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
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

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
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
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
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
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

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
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
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
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
Brown KE, Young NS
Annu Rev Med 1997;48:59-67. doi: 10.1146/annurev.med.48.1.59. PMID: 9046945
Janov AJ, Leong T, Nathan DG, Guinan EC
Medicine (Baltimore) 1996 Mar;75(2):77-8. doi: 10.1097/00005792-199603000-00004. PMID: 8606629
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...