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Abnormal factor IX activity

MedGen UID:
1765773
Concept ID:
C5421579
Finding
HPO: HP:0033062

Definition

Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. [from HPO]

Professional guidelines

PubMed

Baker RI, Choi P, Curry N, Gebhart J, Gomez K, Henskens Y, Heubel-Moenen F, James P, Kadir RA, Kouides P, Lavin M, Lordkipanidze M, Lowe G, Mumford A, Mutch N, Nagler M, Othman M, Pabinger I, Sidonio R, Thomas W, O'Donnell JS; ISTH SSC Von Willebrand Factor, Platelet Physiology, and Women’s Health Issues in Thrombosis and Haemostasis
J Thromb Haemost 2024 Jul;22(7):2059-2070. Epub 2024 Mar 20 doi: 10.1016/j.jtha.2024.03.005. PMID: 38518896
Staehler M, Rohrmann K, Haseke N, Stief CG, Siebels M
Curr Drug Targets 2005 Nov;6(7):835-46. doi: 10.2174/138945005774574498. PMID: 16305462
Lusher JM
Am J Obstet Gynecol 1996 Sep;175(3 Pt 2):778-83. doi: 10.1016/s0002-9378(96)80084-6. PMID: 8828561

Recent clinical studies

Etiology

Puetz J, Hu B
Pediatr Blood Cancer 2023 Nov;70(11):e30644. Epub 2023 Aug 28 doi: 10.1002/pbc.30644. PMID: 37638815
Hernández-Zamora E, Rodríguez-Olivas AO, Rosales-Cruz E, Galicia-Alvarado MA, Zavala-Hernández C, Reyes-Maldonado E
Clin Appl Thromb Hemost 2023 Jan-Dec;29:10760296221151166. doi: 10.1177/10760296221151166. PMID: 36650707Free PMC Article
Winter WE, Flax SD, Harris NS
Lab Med 2017 Nov 8;48(4):295-313. doi: 10.1093/labmed/lmx050. PMID: 29126301
Wolberg AS, Aleman MM, Leiderman K, Machlus KR
Anesth Analg 2012 Feb;114(2):275-85. Epub 2011 Nov 21 doi: 10.1213/ANE.0b013e31823a088c. PMID: 22104070Free PMC Article
Nurden AT
J Thromb Haemost 2005 Aug;3(8):1773-82. doi: 10.1111/j.1538-7836.2005.01428.x. PMID: 16102044

Diagnosis

Baker RI, Choi P, Curry N, Gebhart J, Gomez K, Henskens Y, Heubel-Moenen F, James P, Kadir RA, Kouides P, Lavin M, Lordkipanidze M, Lowe G, Mumford A, Mutch N, Nagler M, Othman M, Pabinger I, Sidonio R, Thomas W, O'Donnell JS; ISTH SSC Von Willebrand Factor, Platelet Physiology, and Women’s Health Issues in Thrombosis and Haemostasis
J Thromb Haemost 2024 Jul;22(7):2059-2070. Epub 2024 Mar 20 doi: 10.1016/j.jtha.2024.03.005. PMID: 38518896
Hernández-Zamora E, Rodríguez-Olivas AO, Rosales-Cruz E, Galicia-Alvarado MA, Zavala-Hernández C, Reyes-Maldonado E
Clin Appl Thromb Hemost 2023 Jan-Dec;29:10760296221151166. doi: 10.1177/10760296221151166. PMID: 36650707Free PMC Article
Winter WE, Flax SD, Harris NS
Lab Med 2017 Nov 8;48(4):295-313. doi: 10.1093/labmed/lmx050. PMID: 29126301
Andrews RK, Berndt MC
Semin Thromb Hemost 2013 Sep;39(6):656-62. Epub 2013 Aug 8 doi: 10.1055/s-0033-1353390. PMID: 23929303
Sallah S
Ann Hematol 1997 Jul-Aug;75(1-2):1-7. doi: 10.1007/s002770050305. PMID: 9322677

Therapy

De Graef D, Ligezka AN, Rezents J, Mazza GL, Preston G, Schwartz K, Krzysciak W, Lam C, Edmondson AC, Johnsen C, Kozicz T, Morava E
Mol Genet Metab 2023 Jun;139(2):107606. Epub 2023 May 9 doi: 10.1016/j.ymgme.2023.107606. PMID: 37224763Free PMC Article
Franchini M
Int J Hematol 2006 Feb;83(2):126-38. doi: 10.1532/IJH97.E0517. PMID: 16513530
Franchini M, Zaffanello M, Veneri D
Thromb Haemost 2005 Jun;93(6):1027-35. doi: 10.1160/TH05-01-0032. PMID: 15968384
Lloyd JV, Joist JH
Curr Hematol Rep 2002 Sep;1(1):19-26. PMID: 12901121
Sallah S
Ann Hematol 1997 Jul-Aug;75(1-2):1-7. doi: 10.1007/s002770050305. PMID: 9322677

Prognosis

Puetz J, Hu B
Pediatr Blood Cancer 2023 Nov;70(11):e30644. Epub 2023 Aug 28 doi: 10.1002/pbc.30644. PMID: 37638815
Kunitake RC, Howard BM, Kornblith LZ, Christie SA, Conroy AS, Cohen MJ, Callcut RA
J Trauma Acute Care Surg 2017 Feb;82(2):302-308. doi: 10.1097/TA.0000000000001313. PMID: 27906868Free PMC Article
Wolberg AS, Aleman MM, Leiderman K, Machlus KR
Anesth Analg 2012 Feb;114(2):275-85. Epub 2011 Nov 21 doi: 10.1213/ANE.0b013e31823a088c. PMID: 22104070Free PMC Article
Girolami A, Scandellari R, Scapin M, Vettore S
Vitam Horm 2008;78:281-374. doi: 10.1016/S0083-6729(07)00014-3. PMID: 18374200
McGraw RA, Davis LM, Lundblad RL, Stafford DW, Roberts HR
Clin Haematol 1985 Jun;14(2):359-83. PMID: 3899439

Clinical prediction guides

Baker RI, Choi P, Curry N, Gebhart J, Gomez K, Henskens Y, Heubel-Moenen F, James P, Kadir RA, Kouides P, Lavin M, Lordkipanidze M, Lowe G, Mumford A, Mutch N, Nagler M, Othman M, Pabinger I, Sidonio R, Thomas W, O'Donnell JS; ISTH SSC Von Willebrand Factor, Platelet Physiology, and Women’s Health Issues in Thrombosis and Haemostasis
J Thromb Haemost 2024 Jul;22(7):2059-2070. Epub 2024 Mar 20 doi: 10.1016/j.jtha.2024.03.005. PMID: 38518896
Puetz J, Hu B
Pediatr Blood Cancer 2023 Nov;70(11):e30644. Epub 2023 Aug 28 doi: 10.1002/pbc.30644. PMID: 37638815
Wada H, Shiraki K, Matsumoto T, Shimpo H, Shimaoka M
Ann Lab Med 2023 Nov 1;43(6):531-538. Epub 2023 Jun 30 doi: 10.3343/alm.2023.43.6.531. PMID: 37387486Free PMC Article
Wolberg AS, Aleman MM, Leiderman K, Machlus KR
Anesth Analg 2012 Feb;114(2):275-85. Epub 2011 Nov 21 doi: 10.1213/ANE.0b013e31823a088c. PMID: 22104070Free PMC Article
McGraw RA, Davis LM, Lundblad RL, Stafford DW, Roberts HR
Clin Haematol 1985 Jun;14(2):359-83. PMID: 3899439

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