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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]

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
Válka J, Čermák J
Vnitr Lek 2018 Summer;64(5):468-475. PMID: 30193515
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
Teti A, Teitelbaum SL
Bone 2019 Feb;119:71-81. Epub 2018 Mar 6 doi: 10.1016/j.bone.2018.03.002. PMID: 29522883
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
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
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
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
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
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
McCulloch K
Clin Perinatol 1988 Mar;15(1):141-58. PMID: 3286090

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
Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ
Pediatr Res 2022 Dec;92(6):1671-1680. Epub 2022 Mar 23 doi: 10.1038/s41390-022-02009-8. PMID: 35322185Free PMC Article
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

Recent systematic reviews

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
Martín-Martín M, Cortés-Martín J, Tovar-Gálvez MI, Sánchez-García JC, Díaz-Rodríguez L, Rodríguez-Blanque R
Int J Environ Res Public Health 2022 Feb 7;19(3) doi: 10.3390/ijerph19031870. PMID: 35162892Free PMC Article
Hay CRM, Nissen F, Pipe SW
J Thromb Haemost 2021 Jan;19 Suppl 1(Suppl 1):6-20. doi: 10.1111/jth.15189. PMID: 33331043Free PMC Article
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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