Research & Literature

Hemophilia B: molecular pathogenesis and mutation analysis.

Goodeve AC

Journal of thrombosis and haemostasis : JTH 2015; (13(7)):1184-95 doi:10.1111/jth.12958.

Desensitization and immune tolerance induction in children with severe factor IX deficiency; inhibitors and adverse reactions to replacement therapy: a case-report and literature review.

Bon A, Morfini M, Dini A, et al.

Italian journal of pediatrics 2015; (41()):12 doi:10.1186/s13052-015-0116-8.

Current challenges in the management of hemophilia.

Bauer KA

The American journal of managed care 2015; (21(6 Suppl)):S112-22.

Hemophilia in the managed care setting.

Dalton DR

The American journal of managed care 2015; (21(6 Suppl)):S123-30.

Social Worker Perceptions and Observations Regarding Men's Management of Hemophilia and Use of Community-Based Support.

Rolstad EB

Health & social work 2015; (40(3)):239-44 doi:10.1093/hsw/hlv047.

Evidence-based guidelines support integrated disease management as the optimal model of haemophilia care.

Pipe SW, Kessler CM

Haemophilia : the official journal of the World Federation of Hemophilia 2016; (22 Suppl 3()):3-5 doi:10.1111/hae.12997.

Aspects of prophylactic treatment of hemophilia.

Ljung R

Thrombosis journal 2016; (14(Suppl 1)):30 doi:10.1186/s12959-016-0103-3.

Extravascular FIX and coagulation.

Stafford DW

Thrombosis journal 2016; (14(Suppl 1)):35 doi:10.1186/s12959-016-0104-2.

Once-weekly prophylactic dosing of recombinant factor IX improves adherence in hemophilia B.

Djambas Khayat C

Journal of blood medicine 2016; (7()):275-282 doi:10.2147/JBM.S84597.

Involvement of the IgE-basophil system and mild complement activation in haemophilia B with anti-factor IX neutralizing antibodies and anaphylaxis.

Cugno M, Mancuso ME, Tedeschi A, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2017; (23(4)):e348-e353 doi:10.1111/hae.13282.

Qualification of a select one-stage activated partial thromboplastin time-based clotting assay and two chromogenic assays for the post-administration monitoring of nonacog beta pegol.

Tiefenbacher S, Bohra R, Amiral J, et al.

Journal of thrombosis and haemostasis : JTH 2017; (15(10)):1901-1912 doi:10.1111/jth.13787.

The spectrum of bleeding in women and girls with haemophilia B.

Staber J, Croteau SE, Davis J, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2018; (24(2)):180-185 doi:10.1111/hae.13376.

The value of HEAD-US system in detecting subclinical abnormalities in joints of patients with hemophilia.

De la Corte-Rodriguez H, Rodriguez-Merchan EC, Alvarez-Roman MT, et al.

Expert review of hematology 2018; (11(3)):253-261 doi:10.1080/17474086.2018.1435269.

Half-life-extended recombinant coagulation factor IX-albumin fusion protein is recycled via the FcRn-mediated pathway.

Chia J, Louber J, Glauser I, et al.

The Journal of biological chemistry 2018; (293(17)):6363-6373 doi:10.1074/jbc.M117.817064.

Moderate and severe haemophilia in Spain: An epidemiological update.

Aznar JA, Altisent C, Álvarez-Román MT, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2018; (24(3)):e136-e139 doi:10.1111/hae.13462.

The benefits of prophylaxis in patients with hemophilia B.

Castaman G

Expert review of hematology 2018; (11(8)):673-683 doi:10.1080/17474086.2018.1489719.

Inhibitors in Hemophilia B.

Santoro C, Quintavalle G, Castaman G, et al.

Seminars in thrombosis and hemostasis 2018; (44(6)):578-589 doi:10.1055/s-0038-1660817.

An investigational RNAi therapeutic targeting antithrombin for the treatment of hemophilia A and B.

Machin N, Ragni MV

Journal of blood medicine 2018; (9()):135-140 doi:10.2147/JBM.S159297.

Once-weekly prophylaxis with 40 IU/kg nonacog beta pegol (N9-GP) achieves trough levels of >15% in patients with haemophilia B: Pooled data from the paradigm™ trials.

Oldenburg J, Carcao M, Lentz SR, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2018; (24(6)):911-920 doi:10.1111/hae.13608.

Potential limits of AAV-based gene therapy with the use of new transgenes expressing factor IX fusion proteins.

Le Quellec S, Dane A, Enjolras N, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2019; (25(1)):e11-e18 doi:10.1111/hae.13651.

Switching patients in the age of long-acting recombinant products?

Escobar M, Santagostino E, Mancuso ME, et al.

Expert review of hematology 2019; (12(sup1)):1-13 doi:10.1080/17474086.2018.1564032.

Merging into the mainstream: the evolution of the role of point-of-care musculoskeletal ultrasound in hemophilia.

Bakeer N, Shapiro AD

F1000Research 2019; (8()) doi:10.12688/f1000research.16039.1.

Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males: A Meta-analytic Approach Using National Registries.

Iorio A, Stonebraker JS, Chambost H, et al.

Annals of internal medicine 2019; (171(8)):540-546 doi:10.7326/M19-1208.

Haemophilic arthropathy: A narrative review on the use of intra-articular drugs for arthritis.

Buccheri E, Avola M, Vitale N, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2019; (25(6)):919-927 doi:10.1111/hae.13857.

Recombinant FIX Fc fusion protein activity assessment with the one-stage clotting assay: A multicenter, assessor-blinded, prospective study in Japan (J-Field Study).

Fukutake K, Kobayashi T, Sommer JM, Hirakata T

International journal of laboratory hematology 2020; (42(2)):162-169 doi:10.1111/ijlh.13133.

Inhibitor incidence in an unselected cohort of previously untreated patients with severe haemophilia B: a PedNet study.

Male C, Andersson NG, Rafowicz A, et al.

Haematologica 2021; (106(1)):123-129 doi:10.3324/haematol.2019.239160.

Barriers and challenges for the fast treatment of bleeds in the non-haemophilia treatment centre hospital setting.

de Moerloose P, Davis JA, Benchikh El Fegoun S, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2020; (26(3)):422-430 doi:10.1111/hae.13956.

Molecular characterization of hemophilia B patients in Colombia.

Parrado Jara YA, Yunis Hazbun LK, Linares A, Yunis Londoño JJ

Molecular genetics & genomic medicine 2020; (8(5)):e1210 doi:10.1002/mgg3.1210.

Factor VIII and IX assays for post-infusion monitoring in hemophilia patients: Guidelines from the French BIMHO group (GFHT).

Jeanpierre E, Pouplard C, Lasne D, et al.

European journal of haematology 2020; (105(2)):103-115 doi:10.1111/ejh.13423.

Performance of factor IX extended half-life product measurements in external quality control assessment programs.

Nederlof A, Kitchen S, Meijer P, et al.

Journal of thrombosis and haemostasis : JTH 2020; (18(8)):1874-1883 doi:10.1111/jth.14847.

Therapeutic metamorphosis: Findings from a grounded theory study of the impact of low-dose prophylaxis in children living with haemophilia in India.

T R, Thomas G, Paul L, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2020; (26(4)):615-621 doi:10.1111/hae.14053.

Personalised antimicrobial dosing: standing on the shoulders of giants.

Wallenburg E, Ter Heine R, Schouten JA, Brüggemann RJM

International journal of antimicrobial agents 2020; (56(3)):106062 doi:10.1016/j.ijantimicag.2020.106062.

Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.

Huang L, Li L, Lin S, et al.

Molecular genetics & genomic medicine 2020; (8(11)):e1482 doi:10.1002/mgg3.1482.

Factors Associated with Compliance with the Treatment Protocol and Mortality in Adults with Hemophilia.

Soares BMD, Simeoni LA, de Almeida KJQ, et al.

Patient preference and adherence 2020; (14()):2279-2285 doi:10.2147/PPA.S279401.

Recent advances in surgery and its perioperative treatment in people with hemophilia.

Rodríguez-Merchán EC

Expert review of hematology 2021; (14(3)):271-280 doi:10.1080/17474086.2021.1893689.

Manual therapy reduces the frequency of clinical hemarthrosis and improves range of motion and perceived disability in patients with hemophilic elbow arthropathy. A randomized, single-blind, clinical trial.

Cuesta-Barriuso R, Pérez-Llanes R, López-Pina JA, et al.

Disability and rehabilitation 2022; (44(15)):3938-3945 doi:10.1080/09638288.2021.1894607.

The Function of extravascular coagulation factor IX in haemostasis.

Mann DM, Stafford KA, Poon MC, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2021; (27(3)):332-339 doi:10.1111/hae.14300.

Hemophilic arthropathy: Current knowledge and future perspectives.

Gualtierotti R, Solimeno LP, Peyvandi F

Journal of thrombosis and haemostasis : JTH 2021; (19(9)):2112-2121 doi:10.1111/jth.15444.

Current therapeutic approaches in the management of hemophilia-a consensus view by the Romanian Society of Hematology.

Hotea I, Brinza M, Blag C, et al.

Annals of translational medicine 2021; (9(13)):1091 doi:10.21037/atm-21-747.

Recombinant factor IX-Fc fusion protein in severe hemophilia B: Patient-reported outcomes and health-related quality of life.

O'Donovan M, Quinn E, Johnston K, et al.

Research and practice in thrombosis and haemostasis 2021; (5(7)):e12602 doi:10.1002/rth2.12602.

The Clinical Genetics of Hemophilia B (Factor IX Deficiency).

Miller CH

The application of clinical genetics 2021; (14()):445-454 doi:10.2147/TACG.S288256.

Nephrotic syndrome in two haemophilia B children with inhibitor under low-dose immune tolerance induction combined with rituximab-based immunosuppressant protocol.

Li Z, Liu G, Yao W, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2022; (28(2)):e42-e45 doi:10.1111/hae.14471.

Effects of replacement therapies with clotting factors in patients with hemophilia: A systematic review and meta-analysis.

Delgado-Flores CJ, García-Gomero D, Salvador-Salvador S, et al.

PloS one 2022; (17(1)):e0262273 doi:10.1371/journal.pone.0262273.

Multidisciplinary Team Care of Patients with Hemophilic Arthropathy: A Qualitative Assessment of Contemporary Practice in the UK and Canada : Canada/UK: MDT Practices for Hemophilia.

St-Louis J, Chowdary P, Dolan G, et al.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2022; (28()):10760296211070002 doi:10.1177/10760296211070002.

Fixed-dose administration and pharmacokinetically guided adjustment of busulfan dose for patients undergoing hematopoietic stem cell transplantation: a meta-analysis and cost-effectiveness analysis.

Chen T, Chen C, He X, et al.

Annals of hematology 2022; (101(3)):667-679 doi:10.1007/s00277-021-04733-3.

Eradication of FIX inhibitor in haemophilia B children using low-dose immune tolerance induction with rituximab-based immunosuppressive agent(s) in China.

Li Z, Liu G, Yao W, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2022; (28(4)):625-632 doi:10.1111/hae.14577.

Factor IX antibodies and tolerance in hemophilia B in the Nordic countries - The impact of F9 variants and complications.

Kihlberg K, Baghaei F, Bruzelius M, et al.

Thrombosis research 2022; (217()):22-32 doi:10.1016/j.thromres.2022.06.015.

The Vascular Endothelium and Coagulation: Homeostasis, Disease, and Treatment, with a Focus on the Von Willebrand Factor and Factors VIII and V.

De Pablo-Moreno JA, Serrano LJ, Revuelta L, et al.

International journal of molecular sciences 2022; (23(15)) doi:10.3390/ijms23158283.

Factor IX inhibitors in haemophilia B: A report of National Haemophilia Registry in China.

Dou X, Zhang W, Poon MC, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2023; (29(1)):123-134 doi:10.1111/hae.14665.

Untreated bleeds in people with hemophilia A in a noninterventional study and intrapatient comparison after initiating emicizumab in HAVEN 1-3.

Callaghan MU, Asikanius E, Lehle M, et al.

Research and practice in thrombosis and haemostasis 2022; (6(6)):e12782 doi:10.1002/rth2.12782.

Little discrepancy between one-stage and chromogenic factor VIII (FVIII)/IX assays in a large international cohort of persons with nonsevere hemophilia A and B.

Zwagemaker AF, Kloosterman FR, Gouw SC, et al.

Journal of thrombosis and haemostasis : JTH 2023; (21(4)):850-861 doi:10.1016/j.jtha.2022.11.040.

Real-World Use of Albutrepenonacog Alfa, A Recombinant Coagulation Factor IX Albumin Fusion Protein, for Personalized Prophylaxis in Japanese Individuals With Hemophilia B: A Case Series.

Nagao A, Bingo M, Yamaguchi T, Fukutake K

Cureus 2023; (15(1)):e33573 doi:10.7759/cureus.33573.

Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B.

Lu L, Wang L, Shen W, et al.

Molecular genetics & genomic medicine 2023; (11(5)):e2147 doi:10.1002/mgg3.2147.

Etranacogene Dezaparvovec: First Approval.

Heo YA

Drugs 2023; (83(4)):347-352 doi:10.1007/s40265-023-01845-0.

Current factor IX replacement options for hemophilia B and the challenges ahead.

Franchini M, Zaffanello M, Focosi D

Expert opinion on pharmacotherapy 2023; (24(6)):729-736 doi:10.1080/14656566.2023.2196012.

Antithrombin lowering in hemophilia: a closer look at fitusiran.

Young G, Lenting PJ, Croteau SE, et al.

Research and practice in thrombosis and haemostasis 2023; (7(4)):100179 doi:10.1016/j.rpth.2023.100179.

Clinical Implications of Discrepancy between One-Stage Clotting and Chromogenic Factor IX Activity in Hemophilia B.

Schmidt DE, Truedsson Å, Strålfors A, et al.

Thrombosis and haemostasis 2024; (124(1)):32-39 doi:10.1055/a-2142-0262.

Hemophilia Gene Therapy: The End of the Beginning?

De Wolf D, Singh K, Chuah MK, VandenDriessche T

Human gene therapy 2023; (34(17-18)):782-792 doi:10.1089/hum.2023.112.

Extravascular factor IX pool fed by prophylaxis is a true hemostatic barrier against bleeding.

Leuci A, Enjolras N, Marano M, et al.

Journal of thrombosis and haemostasis : JTH 2024; (22(3)):700-708 doi:10.1016/j.jtha.2023.11.023.

Etranacogene dezaparvovec gene therapy for haemophilia B (HOPE-B): 24-month post-hoc efficacy and safety data from a single-arm, multicentre, phase 3 trial.

Coppens M, Pipe SW, Miesbach W, et al.

The Lancet. Haematology 2024; (11(4)):e265-e275 doi:10.1016/S2352-3026(24)00006-1.

Fidanacogene Elaparvovec: First Approval.

Dhillon S

Drugs 2024; (84(4)):479-486 doi:10.1007/s40265-024-02017-4.

Six-Year, Real-World Use of Prophylaxis with Recombinant Factor IX-Albumin Fusion Protein (rIX-FP) in Persons with Hemophilia B: A Single-Center Retrospective-Prospective Study.

Coppola A, Rivolta GF, Quintavalle G, et al.

Journal of clinical medicine 2024; (13(5)) doi:10.3390/jcm13051518.

Successful immunosuppressive drug-free immune tolerance induction in hemophilia B with inhibitor and anaphylaxis to factor IX: A case report.

Palomo Bravo Á, Prieto Bonilla R, Bardan Rebollar D, et al.

Clinical case reports 2024; (12(8)):e9312 doi:10.1002/ccr3.9312.

Gene therapy for people with hemophilia B: a proposed care delivery model in Italy.

Castaman G, Di Minno G, Simioni P, et al.

Journal of thrombosis and haemostasis : JTH 2024; (22(11)):3084-3096 doi:10.1016/j.jtha.2024.07.029.

Gene Therapy with Fidanacogene Elaparvovec in Adults with Hemophilia B.

Cuker A, Kavakli K, Frenzel L, et al.

The New England journal of medicine 2024; (391(12)):1108-1118 doi:10.1056/NEJMoa2302982.

Retrospective analysis of hemophilia B in Turkey: identifying main characteristics and treatment options.

Zülfikar B, Koç B, Şahin F, et al.

Research and practice in thrombosis and haemostasis 2024; (8(7)):102588 doi:10.1016/j.rpth.2024.102588.

Evaluation of discrepancy between clot-based and chromogenic factor IX coagulation assays in non-severe hemophilia B patients and identification of the causing mutations.

Mahdavimand M, Tabibian S, Zafarani A, et al.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2025; (64(1)):104063 doi:10.1016/j.transci.2024.104063.

Total Hip Arthroplasty for Avascular Necrosis in a Patient With Hemophilia B.

Dandamudi S, Tseng J, Ratz J, et al.

Arthroplasty today 2024; (30()):101482 doi:10.1016/j.artd.2024.101482.

Gene-ius at work: Hemophilia B treatment enters a new era.

Northington MW, Rice SE, Holmes AL, Watts Alexander CS

American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2025; (82(18)):960-969 doi:10.1093/ajhp/zxaf005.

From Prospective Evaluation to Practice: Model-Informed Dose Optimization in Oncology.

Agema BC, Koch BCP, Mathijssen RHJ, Koolen SLW

Drugs 2025; (85(4)):487-503 doi:10.1007/s40265-025-02152-6.

Safety and efficacy of a fitusiran antithrombin-based dose regimen in people with hemophilia A or B: the ATLAS-OLE study.

Young G, Kavakli K, Klamroth R, et al.

Blood 2025; (145(25)):2966-2977 doi:10.1182/blood.2024027008.

Evaluation of One-Stage Assays for the Monitoring of Recombinant Human Factor IX Padua Activity After Etranacogene Dezaparvovec Gene Therapy.

Astermark J, Miesbach W, Coppens M, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2025; (31(4)):799-806 doi:10.1111/hae.70053.

Marstacimab for the Treatment of Hemophilia A or B.

Mahlangu J

Biologics : targets & therapy 2025; (19()):379-386 doi:10.2147/BTT.S500480.

Real-World Prophylaxis Outcomes with rIX-FP and rFIXFc for Males with Hemophilia B: Pooled Analysis of Medical Chart Data from Germany and Italy.

Oldenburg J, Olivieri M, Yan S, et al.

Advances in therapy 2025; (42(9)):4583-4596 doi:10.1007/s12325-025-03303-7.

Rebalancing agents in hemophilia: knowns, unknowns, and uncertainties.

Van Thillo Q, Hermans C

Haematologica 2025; (110(12)):2902-2912 doi:10.3324/haematol.2025.288245.

Clotting factor concentrates for preventing bleeding and bleeding-related complications in previously untreated or minimally treated children with hemophilia A or B.

Razmpoosh E, Olasupo OO, Bhatt M, et al.

The Cochrane database of systematic reviews 2025; (8()):CD003429 doi:10.1002/14651858.CD003429.pub5.

Drug-Specific Calibration: A Solution to Reagent Variability in Extended Half-Life Factor IX Activity Measurements.

Grand F, Blanc-Jouvan F, Mourey G, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2025; (31(6)):1307-1314 doi:10.1111/hae.70115.

Efficacy and safety of marstacimab prophylaxis in hemophilia A/B with inhibitors: results from the phase 3 BASIS trial.

Matino D, Acharya SS, Taylor CT, et al.

Blood 2026; (147(9)):920-931 doi:10.1182/blood.2025031065.

Liver dysfunction in AAV-mediated Hemophilia B gene therapy: Mechanisms and management strategies.

Song X, Ding B, Jia H, Zhou H

Blood reviews 2026; (75()):101356 doi:10.1016/j.blre.2025.101356.

Fitusiran: A Novel Antithrombin-Targeting Therapy for Hemophilia A and B, With or Without Inhibitors.

Alashqar MT, Nahata MC

The Annals of pharmacotherapy 2026; (60(7)):700-709 doi:10.1177/10600280251403512.

Rebalancing Hemostasis: Fitusiran as a First-in-Class RNAi Therapy in Hemophilia A and B.

Rehman RU, Fatima R, Akilimali A

Health science reports 2026; (9(1)):e71702 doi:10.1002/hsr2.71702.

Challenges in Balancing Hemostasis and Thrombosis in Therapy Tailoring for Hemophilia: A Narrative Review.

Kenet G, Levy-Mendelovich S, Livnat T, Brenner B

International journal of molecular sciences 2026; (27(3)) doi:10.3390/ijms27031373.

Etranacogene dezaparvovec in people with hemophilia B with preexisting adeno-associated virus 5 neutralizing antibodies: 4-year subgroup results from the HOPE-B trial.

Klamroth R, Monahan PE, Van der Valk P, et al.

Research and practice in thrombosis and haemostasis 2026; (10(1)):103360 doi:10.1016/j.rpth.2026.103360.