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Severe hemophilia B

MedGen UID:
1826004
•Concept ID:
C5679576
•
Disease or Syndrome
Synonyms: Severe congenital F9 deficiency; Severe congenital factor IX deficiency; severe factor IX deficiency; severe haemophilia type B; severe hemophilia B; severe hemophilia type B; Severe hereditary factor IX deficiency disease
SNOMED CT: Severe hereditary factor IX deficiency disease (1336093007); Severe hemophilia B (1336093007)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015715
Orphanet: ORPHA169793

Definition

A factor activity level <1 percent of normal. [from SNOMEDCT_US]

Professional guidelines

PubMed

Pharmacokinetic model-based assessment of factor IX prophylaxis treatment regimens in severe hemophilia B.
Vandewalle B, Castaman G, Álvarez-Román MT, Ettingshausen CE, Nemes L, Tomic R, Martins P, Rodrigues JF, Pinachyan K
Sci Rep 2024 Sep 4;14(1):20534. doi: 10.1038/s41598-024-70784-x. PMID: 39227636Free PMC Article
Etranacogene dezaparvovec for the treatment of adult patients with severe and moderately severe hemophilia B.
Castaman G, Coppens M, Pipe SW
Expert Rev Hematol 2023 Jul-Dec;16(12):919-932. Epub 2023 Dec 18 doi: 10.1080/17474086.2023.2276206. PMID: 37882214
Gene Therapy Approaches for the Treatment of Hemophilia B.
Soroka AB, Feoktistova SG, Mityaeva ON, Volchkov PY
Int J Mol Sci 2023 Jun 28;24(13) doi: 10.3390/ijms241310766. PMID: 37445943Free PMC Article

Recent clinical studies

Etiology

Etranacogene dezaparvovec for the treatment of adult patients with severe and moderately severe hemophilia B.
Castaman G, Coppens M, Pipe SW
Expert Rev Hematol 2023 Jul-Dec;16(12):919-932. Epub 2023 Dec 18 doi: 10.1080/17474086.2023.2276206. PMID: 37882214
Phase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B.
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.
Agrawal N, Kumar R, Masih S, Srivastava P, Singh P, Jaiswal SK, Moirangthem A, Saxena D, Phadke SR, Mandal K
Int J Lab Hematol 2022 Feb;44(1):186-192. Epub 2021 Sep 29 doi: 10.1111/ijlh.13715. PMID: 34590426
Long-term safety and efficacy of factor IX gene therapy in hemophilia B.
Nathwani AC, Reiss UM, Tuddenham EG, Rosales C, Chowdary P, McIntosh J, Della Peruta M, Lheriteau E, Patel N, Raj D, Riddell A, Pie J, Rangarajan S, Bevan D, Recht M, Shen YM, Halka KG, Basner-Tschakarjan E, Mingozzi F, High KA, Allay J, Kay MA, Ng CY, Zhou J, Cancio M, Morton CL, Gray JT, Srivastava D, Nienhuis AW, Davidoff AM
N Engl J Med 2014 Nov 20;371(21):1994-2004. doi: 10.1056/NEJMoa1407309. PMID: 25409372Free PMC Article
Adenovirus-associated virus vector-mediated gene transfer in hemophilia B.
Nathwani AC, Tuddenham EG, Rangarajan S, Rosales C, McIntosh J, Linch DC, Chowdary P, Riddell A, Pie AJ, Harrington C, O'Beirne J, Smith K, Pasi J, Glader B, Rustagi P, Ng CY, Kay MA, Zhou J, Spence Y, Morton CL, Allay J, Coleman J, Sleep S, Cunningham JM, Srivastava D, Basner-Tschakarjan E, Mingozzi F, High KA, Gray JT, Reiss UM, Nienhuis AW, Davidoff AM
N Engl J Med 2011 Dec 22;365(25):2357-65. Epub 2011 Dec 10 doi: 10.1056/NEJMoa1108046. PMID: 22149959Free PMC Article

Diagnosis

The Molecular Basis of FIX Deficiency in Hemophilia B.
Shen G, Gao M, Cao Q, Li W
Int J Mol Sci 2022 Mar 2;23(5) doi: 10.3390/ijms23052762. PMID: 35269902Free PMC Article
Invisible bleeds: Lived experiences and barriers to care for men with hemophilia.
Arya S, Siad FM, Wilton P, Page D, Boma-Fischer L, Floros G, Winikoff R, Teitel J, Sholzberg M
J Thromb Haemost 2022 Feb;20(2):296-306. Epub 2021 Nov 8 doi: 10.1111/jth.15570. PMID: 34689399
Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.
Agrawal N, Kumar R, Masih S, Srivastava P, Singh P, Jaiswal SK, Moirangthem A, Saxena D, Phadke SR, Mandal K
Int J Lab Hematol 2022 Feb;44(1):186-192. Epub 2021 Sep 29 doi: 10.1111/ijlh.13715. PMID: 34590426
Pharmacodynamics of eftrenonacog-alfa (rFIX-Fc) in severe hemophilia B patients: A real-life study.
Atsou S, Furlan F, Duchemin J, Ellouze S, Sourdeau É, Launois A, Roussel-Robert V, Stieltjes N, Combe S, Fontenay M, Curis E, Jourdi G
Eur J Pharmacol 2021 Jan 15;891:173764. Epub 2020 Nov 27 doi: 10.1016/j.ejphar.2020.173764. PMID: 33249076
Costs and utilization of treatment in patients with hemophilia.
Rocha P, Carvalho M, Lopes M, Araújo F
BMC Health Serv Res 2015 Oct 26;15:484. doi: 10.1186/s12913-015-1134-3. PMID: 26502954Free PMC Article

Therapy

Hemophilia Gene Therapy: The End of the Beginning?
De Wolf D, Singh K, Chuah MK, VandenDriessche T
Hum Gene Ther 2023 Sep;34(17-18):782-792. doi: 10.1089/hum.2023.112. PMID: 37672530
Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B.
Pipe SW, Leebeek FWG, Recht M, Key NS, Castaman G, Miesbach W, Lattimore S, Peerlinck K, Van der Valk P, Coppens M, Kampmann P, Meijer K, O'Connell N, Pasi KJ, Hart DP, Kazmi R, Astermark J, Hermans CRJR, Klamroth R, Lemons R, Visweshwar N, von Drygalski A, Young G, Crary SE, Escobar M, Gomez E, Kruse-Jarres R, Quon DV, Symington E, Wang M, Wheeler AP, Gut R, Liu YP, Dolmetsch RE, Cooper DL, Li Y, Goldstein B, Monahan PE
N Engl J Med 2023 Feb 23;388(8):706-718. doi: 10.1056/NEJMoa2211644. PMID: 36812434
Gene therapy for hemophilia: a review on clinical benefit, limitations, and remaining issues.
Leebeek FWG, Miesbach W
Blood 2021 Sep 16;138(11):923-931. doi: 10.1182/blood.2019003777. PMID: 34232980
Gene therapy for hemophilia.
Nathwani AC
Hematology Am Soc Hematol Educ Program 2019 Dec 6;2019(1):1-8. doi: 10.1182/hematology.2019000007. PMID: 31808868Free PMC Article
Long-term safety and efficacy of factor IX gene therapy in hemophilia B.
Nathwani AC, Reiss UM, Tuddenham EG, Rosales C, Chowdary P, McIntosh J, Della Peruta M, Lheriteau E, Patel N, Raj D, Riddell A, Pie J, Rangarajan S, Bevan D, Recht M, Shen YM, Halka KG, Basner-Tschakarjan E, Mingozzi F, High KA, Allay J, Kay MA, Ng CY, Zhou J, Cancio M, Morton CL, Gray JT, Srivastava D, Nienhuis AW, Davidoff AM
N Engl J Med 2014 Nov 20;371(21):1994-2004. doi: 10.1056/NEJMoa1407309. PMID: 25409372Free PMC Article

Prognosis

Comprehensive analysis and prediction of long-term durability of factor IX activity following etranacogene dezaparvovec gene therapy in the treatment of hemophilia B.
Shah J, Kim H, Sivamurthy K, Monahan PE, Fries M
Curr Med Res Opin 2023 Feb;39(2):227-237. Epub 2022 Oct 25 doi: 10.1080/03007995.2022.2133492. PMID: 36285399
Phase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B.
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Pharmacodynamics of eftrenonacog-alfa (rFIX-Fc) in severe hemophilia B patients: A real-life study.
Atsou S, Furlan F, Duchemin J, Ellouze S, Sourdeau É, Launois A, Roussel-Robert V, Stieltjes N, Combe S, Fontenay M, Curis E, Jourdi G
Eur J Pharmacol 2021 Jan 15;891:173764. Epub 2020 Nov 27 doi: 10.1016/j.ejphar.2020.173764. PMID: 33249076
Long-term safety and efficacy of factor IX gene therapy in hemophilia B.
Nathwani AC, Reiss UM, Tuddenham EG, Rosales C, Chowdary P, McIntosh J, Della Peruta M, Lheriteau E, Patel N, Raj D, Riddell A, Pie J, Rangarajan S, Bevan D, Recht M, Shen YM, Halka KG, Basner-Tschakarjan E, Mingozzi F, High KA, Allay J, Kay MA, Ng CY, Zhou J, Cancio M, Morton CL, Gray JT, Srivastava D, Nienhuis AW, Davidoff AM
N Engl J Med 2014 Nov 20;371(21):1994-2004. doi: 10.1056/NEJMoa1407309. PMID: 25409372Free PMC Article
Adenovirus-associated virus vector-mediated gene transfer in hemophilia B.
Nathwani AC, Tuddenham EG, Rangarajan S, Rosales C, McIntosh J, Linch DC, Chowdary P, Riddell A, Pie AJ, Harrington C, O'Beirne J, Smith K, Pasi J, Glader B, Rustagi P, Ng CY, Kay MA, Zhou J, Spence Y, Morton CL, Allay J, Coleman J, Sleep S, Cunningham JM, Srivastava D, Basner-Tschakarjan E, Mingozzi F, High KA, Gray JT, Reiss UM, Nienhuis AW, Davidoff AM
N Engl J Med 2011 Dec 22;365(25):2357-65. Epub 2011 Dec 10 doi: 10.1056/NEJMoa1108046. PMID: 22149959Free PMC Article

Clinical prediction guides

Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B.
Pipe SW, Leebeek FWG, Recht M, Key NS, Castaman G, Miesbach W, Lattimore S, Peerlinck K, Van der Valk P, Coppens M, Kampmann P, Meijer K, O'Connell N, Pasi KJ, Hart DP, Kazmi R, Astermark J, Hermans CRJR, Klamroth R, Lemons R, Visweshwar N, von Drygalski A, Young G, Crary SE, Escobar M, Gomez E, Kruse-Jarres R, Quon DV, Symington E, Wang M, Wheeler AP, Gut R, Liu YP, Dolmetsch RE, Cooper DL, Li Y, Goldstein B, Monahan PE
N Engl J Med 2023 Feb 23;388(8):706-718. doi: 10.1056/NEJMoa2211644. PMID: 36812434
Phase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B.
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A
N Engl J Med 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. PMID: 35857660
Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males: A Meta-analytic Approach Using National Registries.
Iorio A, Stonebraker JS, Chambost H, Makris M, Coffin D, Herr C, Germini F; Data and Demographics Committee of the World Federation of Hemophilia
Ann Intern Med 2019 Oct 15;171(8):540-546. Epub 2019 Sep 10 doi: 10.7326/M19-1208. PMID: 31499529
Long-term safety and efficacy of factor IX gene therapy in hemophilia B.
Nathwani AC, Reiss UM, Tuddenham EG, Rosales C, Chowdary P, McIntosh J, Della Peruta M, Lheriteau E, Patel N, Raj D, Riddell A, Pie J, Rangarajan S, Bevan D, Recht M, Shen YM, Halka KG, Basner-Tschakarjan E, Mingozzi F, High KA, Allay J, Kay MA, Ng CY, Zhou J, Cancio M, Morton CL, Gray JT, Srivastava D, Nienhuis AW, Davidoff AM
N Engl J Med 2014 Nov 20;371(21):1994-2004. doi: 10.1056/NEJMoa1407309. PMID: 25409372Free PMC Article
Adenovirus-associated virus vector-mediated gene transfer in hemophilia B.
Nathwani AC, Tuddenham EG, Rangarajan S, Rosales C, McIntosh J, Linch DC, Chowdary P, Riddell A, Pie AJ, Harrington C, O'Beirne J, Smith K, Pasi J, Glader B, Rustagi P, Ng CY, Kay MA, Zhou J, Spence Y, Morton CL, Allay J, Coleman J, Sleep S, Cunningham JM, Srivastava D, Basner-Tschakarjan E, Mingozzi F, High KA, Gray JT, Reiss UM, Nienhuis AW, Davidoff AM
N Engl J Med 2011 Dec 22;365(25):2357-65. Epub 2011 Dec 10 doi: 10.1056/NEJMoa1108046. PMID: 22149959Free PMC Article

Recent systematic reviews

Continuous prophylaxis with recombinant factor IX Fc fusion protein and conventional recombinant factor IX products: comparisons of efficacy and weekly factor consumption.
Iorio A, Krishnan S, Myrén KJ, Lethagen S, McCormick N, Yermakov S, Karner P
J Med Econ 2017 Apr;20(4):337-344. Epub 2016 Dec 21 doi: 10.1080/13696998.2016.1265973. PMID: 27885871
Comparison of the rates of joint arthroplasty in patients with severe factor VIII and IX deficiency: an index of different clinical severity of the 2 coagulation disorders.
Tagariello G, Iorio A, Santagostino E, Morfini M, Bisson R, Innocenti M, Mancuso ME, Mazzucconi MG, Pasta GL, Radossi P, Rodorigo G, Santoro C, Sartori R, Scaraggi A, Solimeno LP, Mannucci PM; Italian Association Hemophilia Centre (AICE)
Blood 2009 Jul 23;114(4):779-84. Epub 2009 Apr 8 doi: 10.1182/blood-2009-01-195313. PMID: 19357395

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