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Congenital Bleeding Disorder

MedGen UID:
769746
Concept ID:
C3641106
Disease or Syndrome

Definition

A bleeding disorder that is diagnosed during childhood, with the presenting symptom of excessive bleeding. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Bleeding Disorder

Professional guidelines

PubMed

Chen SL
Am J Manag Care 2016 Apr;22(5 Suppl):s126-33. PMID: 27266809
Odame JE, Chan AK, Wu JK, Breakey VR
Blood Coagul Fibrinolysis 2014 Apr;25(3):199-205. doi: 10.1097/MBC.0000000000000029. PMID: 24401950
Budde U, Schneppenheim R, Eikenboom J, Goodeve A, Will K, Drewke E, Castaman G, Rodeghiero F, Federici AB, Batlle J, Pérez A, Meyer D, Mazurier C, Goudemand J, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Peake I
J Thromb Haemost 2008 May;6(5):762-71. Epub 2008 Mar 1 doi: 10.1111/j.1538-7836.2008.02945.x. PMID: 18315556

Recent clinical studies

Etiology

Wagner B, Seuser A, Krüger S, Herzig ML, Hilberg T, Ay C, Hasenöhrl T, Crevenna R
Wien Klin Wochenschr 2019 Nov;131(21-22):558-566. Epub 2019 Sep 18 doi: 10.1007/s00508-019-01548-1. PMID: 31535221Free PMC Article
Chen SL
Am J Manag Care 2016 Apr;22(5 Suppl):s126-33. PMID: 27266809
Baumann Kreuziger LM, Morton CT, Reding MT
Haemophilia 2013 Nov;19(6):827-32. Epub 2013 Apr 22 doi: 10.1111/hae.12167. PMID: 23607277Free PMC Article
Salem K, Eshghi P
Haemophilia 2013 Jan;19(1):65-70. Epub 2012 Sep 13 doi: 10.1111/hae.12002. PMID: 22970656
Rick ME, Walsh CE, Key NS
Hematology Am Soc Hematol Educ Program 2003:559-74. doi: 10.1182/asheducation-2003.1.559. PMID: 14633799

Diagnosis

Bannow BS, Konkle BA
Blood 2023 Aug 31;142(9):761-768. doi: 10.1182/blood.2021014766. PMID: 36652635Free PMC Article
Wagner B, Seuser A, Krüger S, Herzig ML, Hilberg T, Ay C, Hasenöhrl T, Crevenna R
Wien Klin Wochenschr 2019 Nov;131(21-22):558-566. Epub 2019 Sep 18 doi: 10.1007/s00508-019-01548-1. PMID: 31535221Free PMC Article
Budde U
Haemophilia 2008 Nov;14 Suppl 5:27-38. doi: 10.1111/j.1365-2516.2008.01849.x. PMID: 18786008
Pruthi RK
Mayo Clin Proc 2006 May;81(5):679-91. doi: 10.4065/81.5.679. PMID: 16706266
Mazurier C, Ribba AS, Gaucher C, Meyer D
Ann Genet 1998;41(1):34-43. PMID: 9599650

Therapy

Bertolet M, Brooks MM, Ragni MV
Blood Adv 2020 Nov 10;4(21):5433-5441. doi: 10.1182/bloodadvances.2020002789. PMID: 33156923Free PMC Article
Osooli M, Lövdahl S, Steen Carlsson K, Knobe K, Baghaei F, Holmström M, Astermark J, Berntorp E
Haemophilia 2017 Mar;23(2):e79-e86. Epub 2017 Feb 2 doi: 10.1111/hae.13166. PMID: 28155262
Chen SL
Am J Manag Care 2016 Apr;22(5 Suppl):s126-33. PMID: 27266809
Mannucci PM, Franchini M
Expert Opin Emerg Drugs 2014 Sep;19(3):407-14. Epub 2014 Aug 6 doi: 10.1517/14728214.2014.946010. PMID: 25098797
Baumann Kreuziger LM, Morton CT, Reding MT
Haemophilia 2013 Nov;19(6):827-32. Epub 2013 Apr 22 doi: 10.1111/hae.12167. PMID: 23607277Free PMC Article

Prognosis

Alharbi A, Hashmi JA, Alharby E, Albalawi AM, Ramzan K, Basit S
Hematol Oncol Stem Cell Ther 2022 Mar 1;15(1):21-26. doi: 10.1016/j.hemonc.2021.01.003. PMID: 33600779
Lu G, Qiao L, Li D, Liu Z, Zhao F, Yu D
Medicine (Baltimore) 2019 May;98(19):e15474. doi: 10.1097/MD.0000000000015474. PMID: 31083180Free PMC Article
Lapalud P, Rothschild C, Mathieu-Dupas E, Balicchi J, Gruel Y, Laune D, Molina F, Schved JF, Granier C, Lavigne-Lissalde G
J Thromb Haemost 2015 Apr;13(4):540-7. Epub 2015 Feb 27 doi: 10.1111/jth.12846. PMID: 25603934
Girolami A, Scarparo P, Candeo N, Sartori R, Scandellari R, Girolami B
Acta Haematol 2009;121(1):42-6. Epub 2009 Mar 31 doi: 10.1159/000210063. PMID: 19332986
Querol F, Aznar JA, Haya S, Cid A
Haemophilia 2002 May;8(3):407-12. doi: 10.1046/j.1365-2516.2002.00637.x. PMID: 12010442

Clinical prediction guides

Mokhtar FM, Rajakumar S, Zaman Huri H
PLoS One 2023;18(12):e0289815. Epub 2023 Dec 14 doi: 10.1371/journal.pone.0289815. PMID: 38096257Free PMC Article
Machin N, Ragni MV
Blood Adv 2020 Jul 28;4(14):3234-3238. doi: 10.1182/bloodadvances.2020002046. PMID: 32692849Free PMC Article
Bykowska K, Ceglarek B
Pol Arch Intern Med 2020 Mar 27;130(3):225-231. Epub 2020 Jan 28 doi: 10.20452/pamw.15162. PMID: 31990275
Lu G, Qiao L, Li D, Liu Z, Zhao F, Yu D
Medicine (Baltimore) 2019 May;98(19):e15474. doi: 10.1097/MD.0000000000015474. PMID: 31083180Free PMC Article
Salem K, Eshghi P
Haemophilia 2013 Jan;19(1):65-70. Epub 2012 Sep 13 doi: 10.1111/hae.12002. PMID: 22970656

Recent systematic reviews

Tomschi F, Ransmann P, Hilberg T
Haemophilia 2022 May;28(3):397-408. Epub 2022 Feb 28 doi: 10.1111/hae.14522. PMID: 35226779
Wagner B, Krüger S, Hilberg T, Ay C, Hasenoehrl T, Huber DF, Crevenna R
Haemophilia 2020 Mar;26(2):200-215. Epub 2020 Feb 24 doi: 10.1111/hae.13938. PMID: 32091659Free PMC Article
Spiliopoulos D, Kadir RA
Blood Coagul Fibrinolysis 2016 Apr;27(3):237-41. doi: 10.1097/MBC.0000000000000407. PMID: 26376169
Sharief LA, Kadir RA
Haemophilia 2013 Nov;19(6):e349-57. Epub 2013 Aug 28 doi: 10.1111/hae.12259. PMID: 23992439
Baumann Kreuziger LM, Morton CT, Reding MT
Haemophilia 2013 Nov;19(6):827-32. Epub 2013 Apr 22 doi: 10.1111/hae.12167. PMID: 23607277Free PMC Article

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