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Congenital hematological disorder

MedGen UID:
760584
Concept ID:
C3267032
Disease or Syndrome
Synonyms: congenital haematological system disease; Congenital Hematological Disorder; congenital hematological disorder; congenital hematological system disease
 
Monarch Initiative: MONDO:0009332

Definition

A disorder of the blood that is present at birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital hematological disorder

Professional guidelines

PubMed

Páramo JA
Med Clin (Barc) 2021 Dec 24;157(12):583-587. Epub 2021 Sep 9 doi: 10.1016/j.medcli.2021.04.031. PMID: 34509300
Bravo-Pérez C, Vicente V, Corral J
Expert Rev Hematol 2019 Jun;12(6):397-405. Epub 2019 May 22 doi: 10.1080/17474086.2019.1611424. PMID: 31116611
Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714

Recent clinical studies

Etiology

Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT
Int J Lab Hematol 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. PMID: 36074711Free PMC Article
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K
Nat Rev Dis Primers 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. PMID: 28593997Free PMC Article
Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427
Zantek ND, Koepsell SA, Tharp DR Jr, Cohn CS
Am J Hematol 2012 Jul;87(7):707-9. Epub 2012 May 6 doi: 10.1002/ajh.23218. PMID: 22566278
Schwartzberg LS
Clin Cornerstone 2006;8 Suppl 5:S5-11. doi: 10.1016/s1098-3597(06)80053-0. PMID: 17379162

Diagnosis

Noumani I, Harrison CN, McMullin MF
Int J Lab Hematol 2024 May;46 Suppl 1:55-62. Epub 2024 May 2 doi: 10.1111/ijlh.14298. PMID: 38695361
Spoor J, Farajifard H, Rezaei N
Crit Rev Oncol Hematol 2019 Jan;133:149-162. Epub 2018 Oct 13 doi: 10.1016/j.critrevonc.2018.10.003. PMID: 30661651
Haley K
Med Clin North Am 2017 Mar;101(2):361-374. Epub 2016 Dec 8 doi: 10.1016/j.mcna.2016.09.008. PMID: 28189176
Geddis AE
Pediatr Blood Cancer 2011 Aug;57(2):199-203. Epub 2011 Feb 18 doi: 10.1002/pbc.22927. PMID: 21337678
Kunishima S, Saito H
Blood Rev 2006 Mar;20(2):111-21. Epub 2005 Sep 19 doi: 10.1016/j.blre.2005.08.001. PMID: 16169642

Therapy

Carson JL, Stanworth SJ, Guyatt G, Valentine S, Dennis J, Bakhtary S, Cohn CS, Dubon A, Grossman BJ, Gupta GK, Hess AS, Jacobson JL, Kaplan LJ, Lin Y, Metcalf RA, Murphy CH, Pavenski K, Prochaska MT, Raval JS, Salazar E, Saifee NH, Tobian AAR, So-Osman C, Waters J, Wood EM, Zantek ND, Pagano MB
JAMA 2023 Nov 21;330(19):1892-1902. doi: 10.1001/jama.2023.12914. PMID: 37824153
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K
Nat Rev Dis Primers 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. PMID: 28593997Free PMC Article
Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427
Peña-Rosas JP, De-Regil LM, Garcia-Casal MN, Dowswell T
Cochrane Database Syst Rev 2015 Jul 22;2015(7):CD004736. doi: 10.1002/14651858.CD004736.pub5. PMID: 26198451Free PMC Article
Schwartzberg LS
Clin Cornerstone 2006;8 Suppl 5:S5-11. doi: 10.1016/s1098-3597(06)80053-0. PMID: 17379162

Prognosis

Noumani I, Harrison CN, McMullin MF
Int J Lab Hematol 2024 May;46 Suppl 1:55-62. Epub 2024 May 2 doi: 10.1111/ijlh.14298. PMID: 38695361
Donadieu J, Beaupain B, Mahlaoui N, Bellanné-Chantelot C
Hematol Oncol Clin North Am 2013 Feb;27(1):1-17, vii. doi: 10.1016/j.hoc.2012.11.003. PMID: 23351985
de Moerloose P, Neerman-Arbez M
Semin Thromb Hemost 2009 Jun;35(4):356-66. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225758. PMID: 19598064
Greenough A
Curr Opin Pediatr 1996 Feb;8(1):6-10. doi: 10.1097/00008480-199602000-00003. PMID: 8680517
al-Mondhiry H, Ehmann WC
Am J Hematol 1994 Aug;46(4):343-7. doi: 10.1002/ajh.2830460416. PMID: 8037188

Clinical prediction guides

Noumani I, Harrison CN, McMullin MF
Int J Lab Hematol 2024 May;46 Suppl 1:55-62. Epub 2024 May 2 doi: 10.1111/ijlh.14298. PMID: 38695361
Al-Huniti A, Kahr WH
Transfus Med Rev 2020 Oct;34(4):277-285. Epub 2020 Sep 19 doi: 10.1016/j.tmrv.2020.09.006. PMID: 33082057
Roberts I, Fordham NJ, Rao A, Bain BJ
Br J Haematol 2018 Jul;182(2):170-184. Epub 2018 May 28 doi: 10.1111/bjh.15246. PMID: 29806701
Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427
Krijanovski OI, Sieff CA
Hematol Oncol Clin North Am 1997 Dec;11(6):1061-77. doi: 10.1016/s0889-8588(05)70483-4. PMID: 9443046

Recent systematic reviews

Kojom Foko LP, Singh V
Front Public Health 2023;11:1150466. Epub 2023 Oct 19 doi: 10.3389/fpubh.2023.1150466. PMID: 37927870Free PMC Article
Hansen R, Sejer EPF, Holm C, Schroll JB
Acta Obstet Gynecol Scand 2023 Sep;102(9):1147-1158. Epub 2023 Jul 5 doi: 10.1111/aogs.14607. PMID: 37403900Free PMC Article
Li Y, Ding B, Wang X, Ding Q
Thromb Res 2022 Sep;217:36-47. Epub 2022 Jul 14 doi: 10.1016/j.thromres.2022.07.005. PMID: 35853369
Hamulyák EN, Scheres LJ, Marijnen MC, Goddijn M, Middeldorp S
Cochrane Database Syst Rev 2020 May 2;5(5):CD012852. doi: 10.1002/14651858.CD012852.pub2. PMID: 32358837Free PMC Article
Peña-Rosas JP, De-Regil LM, Garcia-Casal MN, Dowswell T
Cochrane Database Syst Rev 2015 Jul 22;2015(7):CD004736. doi: 10.1002/14651858.CD004736.pub5. PMID: 26198451Free PMC Article

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