A hemofilia B é uma forma de hemofilia caracterizada por hemorragias espontâneas ou prolongadas devido à deficiência do fator IX.
Introdução
O que você precisa saber de cara
A hemofilia B é uma forma de hemofilia caracterizada por hemorragias espontâneas ou prolongadas devido à deficiência do fator IX.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: X-linked recessive.
Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa (PubMed:8295821, PubMed:2592373, PubMed:20121197, PubMed:20121198, PubMed:1730085, PubMed:19846852, PubMed:39880037)
Secreted
Hemophilia B
An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma.
Medicamentos e terapias
Mecanismo: Coagulation factor VII exogenous protein
Mecanismo: Coagulation factor IX exogenous protein
Mecanismo: Coagulation factor IX exogenous protein
Mecanismo: Coagulation factor IX exogenous protein
Mecanismo: Coagulation factor IX exogenous protein
Mecanismo: Coagulation factor IX exogenous protein
Mecanismo: Coagulation factor VII exogenous protein
Mecanismo: Coagulation factor IX exogenous protein
Mecanismo: Coagulation factor IX exogenous gene
Mecanismo: Tissue factor pathway inhibitor inhibitor
Variantes genéticas (ClinVar)
533 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 10 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
12 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hemofilia B
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
17 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
288 ensaios clínicos encontrados, 28 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.030
Current Status of Clinical Gene Therapy for Hemophilia and Globin Disorders.
In the last few years, gene therapy, holding the promise for long-term disease correction through a one-time treatment, has transitioned from experimental research to approved medicine. Several gene therapies are now available for congenital blood disorders, notably for hemophilia and hemoglobinopathies. In this review, we discuss each of the six therapies that now have regulatory approval for treatment in the United States: Roctavian (valoctocogene roxaparvovec) for hemophilia A, Beqvez (fidanacogene elaparvovec) and Hemgenix (etranacogene dezaparvovec) for hemophilia B, Lyfgenia (lovotibeglogene autotemcel) for sickle cell disease, Zynteglo (betibeglogene autotemcel) for β-thalassemia, and Casgevy (exagamglogene autotemcel) for either sickle cell disease or β-thalassemia. The underlying principles for these treatments vary and include both in vivo and ex vivo methods, lentiviral and adeno-associated viral (AAV) vectors, and gene silencing by the CRISPR-Cas9 gene editing system. Consequently, they pose correspondingly disparate risks and benefits when compared to other treatment modalities and to each other. Although long-term effects are not yet entirely understood, given the novelty of these therapies, knowledge on patient outcomes is continuously increasing. Overall, results are very encouraging, often freeing patients from the need for coagulation factor or red blood cell (RBC) infusions, albeit that for some of these diseases there is room for further improvement in terms of safety and therapeutic durability, which may be achieved with next-generation gene therapy products. However, improvements are needed to address issues with durability of results, side effects, and accessibility of these therapies.
Safety, efficacy and patient-reported outcomes 6 years after fidanacogene elaparvovec in adults with hemophilia B.
Fidanacogene elaparvovec is a single-dose gene therapy designed to express the high-activity factor IX (FIX) variant FIX-R338L. Participants (N=15) with FIX activity ≤2% were dosed with 5×1011 vector genomes/kg infusion of fidanacogene elaparvovec and completed the 1-year dosing trial. After the initial 52 weeks, participants could enroll in long-term follow-up (LTFU) for 5 additional years. This reports includes final safety and efficacy data of the LTFU trial through 6 years post gene therapy, with additional patient-reported outcomes (PROs). Of 14 participants enrolled in the LTFU, 11 completed 6-years' follow-up. During Years 2 to 6, 9 serious adverse events (AEs) were reported in 4 participants (28.6%); none were considered treatment-related or resulted in study discontinuation or death. Eight participants had increased alanine aminotransferase levels, and 3 of 8 also had increased aspartate aminotransferase levels; none received corticosteroids. No liver masses, malignancies, thrombotic events, or FIX inhibitors were reported. FIX activity was maintained, with a mean FIX activity of 24.7% at Year 2 (n=14) and 26.1% at Year 6 (n=11). Mean treated annualized bleeding rates remained lower than 1.0 (median=0.0) during each year of follow-up. Ten participants (71%) had no treated bleeding events. None of the 14 enrolled participants resumed FIX prophylaxis. Improvements relative to pre-gene therapy in PROs and target joints were observed over the duration of follow-up. Overall, fidanacogene elaparvovec exhibited a favorable safety profile, sustained efficacy, and improved PROs for up to 6 years. This trial is registered at www.clinicaltrials.gov as #NCT03307980.
Health Related Quality of Life (HRQoL) and the Factors Affecting it in Children with Hemophilia.
Hemophilia is a chronic illness that is associated with frequent joint bleeds leading to deformity, disability, severe impairment and limitation of activity, causing negative impact on physical, social, economic and psychological well being. This study cross sectional study was carried out with the objective to determine the health related quality of life (HRQoL) of hemophiliac children using the Haemo-QoL questionnaire. A total of 89 hemophiliac children (4-16 years) were enrolled. Among these, 76 (85.39%) children had hemophilia A, while 13 (14.61%) had hemophilia B. Inhibitors were detected in 9 (10.11%) children. The mean Haemo-QoL scores were 52.27 ± 11.72, 47.46 ± 11.68 and 47.75 ± 9.41 in children aged 4-7 years, 8-12 years and 13-16 years, respectively. The family domain had the greatest impairment in HRQoL in the 4-7 years old and 8-12 years old age groups, whereas in the 13-16 years old children, the sports and school domains were the worst affected. A comparison of the Haemo-QoL based on presence or absence of inhibitors revealed statistically significant difference among children aged 13-16 years. Presence of target joints in children aged 8-12 years & 13-16 years was significantly associated with lower health related quality of life. Similarly, a comparison of the Haemo-QoL according to the severity of hemophilia revealed greater impairment among severe hemophilia patients in the 8-12 years and 13-16 years age groups. So to conclude, severity of disease as well presence of target joints and inhibitors had a negative impact on HRQoL. The major contributors to poor HRQoL are physical health, perceived impact on family and inability to participate in school/sports activities.
Liver Transplantation for a Patient With Hemophilia and HIV/HCV Coinfection Complicated by Pulmonary Hypertension.
Liver transplantation for patients with hemophilia and HIV/HCV coinfection presents unique challenges due to the complexity of perioperative management, including coagulation disorders, drug interactions, and potential complications such as pulmonary hypertension. We report a successful case of brain-dead donor liver transplantation in a patient with hemophilia B and HIV/HCV coinfection, complicated by pulmonary hypertension. The patient, a man in his 50s, acquired multidrug-resistant HIV and HCV in childhood from contaminated blood products. Despite successful HCV eradication, liver function declined, and he was listed for transplantation. Preoperative evaluation revealed pulmonary arterial hypertension, which improved with sildenafil citrate, macitentan, and home oxygen therapy. Intraoperatively, coagulation was managed with factor IX supplementation, and circulation remained stable following reperfusion. Postoperatively, immunosuppression, antiretroviral therapy, and treatment for pulmonary hypertension were carefully coordinated to avoid drug interactions. Nitric oxide therapy was utilized to improve oxygenation. The patient was discharged on postoperative day 51 with normal liver function and good overall condition. This case underscores the importance of multidisciplinary collaboration and careful perioperative planning in achieving successful outcomes in liver transplantation for patients with complex comorbidities such as hemophilia, HIV/HCV coinfection, and pulmonary hypertension.
Concizumab in hemophilia with inhibitors: longer-term efficacy and safety results from the phase 3 explorer7 study.
Concizumab is an anti-tissue factor pathway inhibitor (TFPI) monoclonal antibody intended for once-daily subcutaneous prophylactic treatment for people with hemophilia A or B with and without inhibitors. Results from the phase 3 explorer7 study confirmed superiority of concizumab prophylaxis over no prophylaxis in reducing the annualized bleeding rate (ABR) in people with hemophilia A or B with inhibitors (HAwI/HBwI). Male patients aged ≥12 years were randomized 1:2 to no prophylaxis (group 1) or concizumab prophylaxis (group 2), or nonrandomly allocated to concizumab prophylaxis (groups 3 and 4). After ≥24 weeks of treatment, patients in group 1 could switch to concizumab prophylaxis. At the 56-week cutoff (defined as when all patients in groups 2-4 had completed the visit at 56 weeks or permanently discontinued treatment), bleed-related efficacy, pharmacokinetics and pharmacodynamics, and safety were assessed. Of the 133 patients enrolled (HAwI, n = 80; HBwI, n = 53), 114 received concizumab prophylaxis (groups 2-4) and 19 were randomized to no prophylaxis (group 1). After ≥24 weeks, 13 patients from group 1 switched to concizumab. Median ABR for treated spontaneous and traumatic bleeding episodes in patients receiving concizumab was 0.8 (interquartile range [IQR], 0.0-3.2) at the 56-week cutoff, consistent with the low bleeding rates (median ABR, 0.0; IQR, 0.0-3.3) at the 32-week cutoff. Concizumab and free-TFPI concentration remained stable over time. No new safety concerns were reported. Longer-term (≥1 year) efficacy and safety results of concizumab prophylaxis for HAwI/HBwI were consistent with the 32-week cutoff results in explorer7. This trial was registered at www.clinicaltrials.gov as #NCT04083781.
Publicações recentes
The Prevalence of Coagulation Factor Deficiency Among Pediatric Populations in Medina City, Saudi Arabia.
Integrating Clinical, Functional, and Patient-Reported Outcomes in Haemophilia Care: A Delphi-Based Consensus on a New Monitoring Tool.
🥉 Relato de casoDiagnosis and management of hemophilia A and B.
Signals of Toxicity Associated With Gene Therapy: The Case of Etranacogene Dezaparvovec in the Treatment of Hemophilia B.
Cardiac surgery in an infant hemophilia B carrier with moderate hemophilia: a case report.
📚 EuropePMC1.083 artigos no totalmostrando 198
Non-clotting factor therapies for preventing bleeds in people with congenital hemophilia A or B.
The Cochrane database of systematic reviewsOptimized AAVrh10 and Factor 9 vectors demonstrate improved phenotypic rescue in hemophilia B mice.
Thrombosis researchNew Methods for Activated Partial Thromboplastin Time -Based Clot Waveform Analysis: Normalization and Multi-Parameter Combination.
International journal of general medicineAn analysis of attitudes toward gene therapy in people with severe hemophilia in Germany, a survey-based cross-sectional study.
Therapeutic advances in hematologyDiagnostic challenges and perioperative management of a lateral cystic neck mass in an adult patient with hemophilia B: A case report.
SAGE open medical case reportsComprehensive Care for People With Hemophilia: A Dental Perspective From an Indian Scenario.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryEnhanced Peripartum Hemostatic Management Does Not Decrease Postpartum Hemorrhage Incidence in Hemophilia Carriers: the Pregnancy and Inherited Bleeding Disorders study (PRIDES).
Journal of thrombosis and haemostasis : JTHComparative Efficacy and Safety of Non-Clotting Factor Prophylaxis Versus. on-Demand Therapy in Hemophilia: A Meta-Analysis of Randomized Controlled Trials.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisCurrent Status of Clinical Gene Therapy for Hemophilia and Globin Disorders.
Journal of blood medicineIs marstacimab the next step in personalized and effective haemophilia management?
Expert review of clinical pharmacologyAdvancing pilonidal disease care through pediatric endoscopic treatment (PEPSiT): early insights.
Pediatric surgery internationalEtranacogene dezaparvovec in people with hemophilia B with preexisting adeno-associated virus 5 neutralizing antibodies: 4-year subgroup results from the HOPE-B trial.
Research and practice in thrombosis and haemostasisManaging massive gastrointestinal and abdominal haemorrhage in inherited bleeding disorders: experience from a pediatric cohort.
International journal of hematologyTwo decades of prenatal diagnosis in hemophilia A and B: a systematic review of global trends and current practices.
Thrombosis journalSafety, efficacy and patient-reported outcomes 6 years after fidanacogene elaparvovec in adults with hemophilia B.
Blood advancesHealth Related Quality of Life (HRQoL) and the Factors Affecting it in Children with Hemophilia.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionAn ultra-expansible chitosan-silk fibroin miniaturized sponge loaded with tranexamic acid modified gelatin for coagulation abnormalities.
Carbohydrate polymersGene Therapy of Haemophilia: Current Status and Future Directions.
HamostaseologieImpact of prophylaxis, inhibitors, and genetics on joint outcomes according to the IPSG-MRI score in hemophilia A, B and vWD type 3.
Frontiers in medicineA first-in-human study assessing the safety, pharmacokinetics, and pharmacodynamics of TU7710, a recombinant factor VIIa-transferrin fusion protein, in warfarin-pretreated healthy male participants.
Journal of thrombosis and haemostasis : JTHEtranacogene dezaparvovec in people with hemophilia B and without adeno-associated virus serotype 5 neutralizing antibodies: a 4-year subgroup analysis of the Health Outcomes with Padua Gene; Evaluation in Hemophilia B (HOPE-B) trial.
Research and practice in thrombosis and haemostasisEvidence-based dental management strategies for individuals with congenital hemophilia: a systematic review.
BMC oral healthMild hemophilia B in a female with compound heterozygous FIX variants presented with abdominal pain and diagnosed with nutcracker syndrome, and median arcuate ligament syndrome.
Thrombosis researchNine areas with outstanding challenges for hemophilia B research.
Therapeutic advances in hematologyMolecular Mechanisms of Factor IX Signal Peptide and Propeptide Mutations Underlying Hemophilia B.
Thrombosis and haemostasisCentral retinal vein occlusion in hemophilia B: between bleeding and thrombosis.
Polish archives of internal medicineLiver Transplantation for a Patient With Hemophilia and HIV/HCV Coinfection Complicated by Pulmonary Hypertension.
Hepatology research : the official journal of the Japan Society of HepatologyBalancing Promise and Peril: Hemophilia Gene Therapy Insights.
IUBMB lifeHealth care resources and costs associated with delivering gene therapy for hemophilia in clinical practice.
Research and practice in thrombosis and haemostasisReference Values for the Haemophilia Joint Health Score in Patients With Severe Haemophilia Derived From the Canadian Bleeding Disorder Registry.
Haemophilia : the official journal of the World Federation of HemophiliaImprovements in pharmacokinetics, bleeding control, and cost analysis after PK-guided transition to extended-half-life factor IX in hemophilia B: A multicentric study.
Thrombosis researchMolecular mechanisms and therapeutic strategies for the recurrent F9 (c.520 + 13 A > G) variant in hemophilia B.
Human genomicsConcizumab in hemophilia with inhibitors: longer-term efficacy and safety results from the phase 3 explorer7 study.
Blood advancesBarriers to dental care and parental attitudes toward oral health in children with haemophilia: a cross-sectional study in China.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistrymGem: AAV, from almost a virus to an awesome vector-or is it?
mBioOptimization of hemophilia B treatment via population PK modeling of rIX-FP, including a 3-week regimen.
Frontiers in pediatricsThe Template-Jumping Editing Approach in F9-Associated Hemophilia B Gene Therapy.
International journal of molecular sciencesFitusiran: A Novel Antithrombin-Targeting Therapy for Hemophilia A and B, With or Without Inhibitors.
The Annals of pharmacotherapyOverview of gene therapy for hemophilia: questions and answers to navigate the innovation.
Journal of thrombosis and haemostasis : JTHHemophilic pseudotumor in the hand: a case report and literature review.
Skeletal radiologyLiver dysfunction in AAV-mediated Hemophilia B gene therapy: Mechanisms and management strategies.
Blood reviewsComparative evaluation of liver-directed knockin strategies with viral and nonviral vectors in mouse inherited disease models.
Molecular therapy : the journal of the American Society of Gene TherapyEight-Week Resistance Training and Manual Therapy in Young Patients with Severe Hemophilia: A Case Series Evaluating Functional, Imaging, and Immunological Outcomes.
Journal of clinical medicineEvaluation of kidney function and damage in patients with hemophilia B-insights from the B-Natural study.
Research and practice in thrombosis and haemostasisDental Neglect by Individuals With Haemophilia: Clinical Challenges and Solutions.
Haemophilia : the official journal of the World Federation of HemophiliaFinal Analysis of a Study of Etranacogene Dezaparvovec for Hemophilia B.
The New England journal of medicineF9 missense variant hot spots associated with qualitative protein defects causing hemophilia B.
Blood vessels, thrombosis & hemostasisLiver-Specific Biocompatible Lipid Nanoparticle-Enabled mRNA Therapy for Haemophilia B.
Advanced healthcare materialsEfficacy and safety of marstacimab prophylaxis in hemophilia A/B with inhibitors: results from the phase 3 BASIS trial.
BloodDeconstructing gene therapy in hemophilia for the clinician.
Hematology. American Society of Hematology. Education ProgramContinuum of Care for Hemophilia: The Story of India.
Indian journal of pediatricsSelective embolization for recurrent gingiva bleeding associated with aneurysmal bone cyst and hemophilia: A case report.
International journal of surgery case reportsHaemophilia B: an illustrative review of current challenges and opportunities.
Research and practice in thrombosis and haemostasisLong-term durability of rAAV gene therapy in hemophilia: Factor expression, clinical outcomes and underlying molecular mechanisms.
Blood reviewsFactor IX-Padua AAV gene therapy in hemophilia B: phases 1/2 and 3 trials.
Nature medicineAssessing factor consumption and bleeding outcomes of prophylaxis with 3 commonly prescribed factor IX products for hemophilia B: A retrospective patient medical record analysis in the United States.
Journal of managed care & specialty pharmacySafety, Efficacy and Treatment Patterns of rIX-FP in Previously Untreated Paediatric Haemophilia B Patients: A Retrospective Chart Review in Japan.
Haemophilia : the official journal of the World Federation of HemophiliaSplenic artery embolization for the treatment of spontaneous splenic rupture in hemophilia A: a case report.
AME case reportsPain diagnostics in people with hemophilia - pain pressure thresholds and influence of age and joint status.
Journal of thrombosis and haemostasis : JTHChinese guidance for the clinical application of adeno-associated virus vector-based gene therapy for hemophilia B (2025).
Blood science (Baltimore, Md.)Effects of G-CSF and 5-FU as conditioning regimens in platelet-targeted gene therapy for hemophilia B.
Blood cells, molecules & diseasesGene therapy for hemophilia: results of ISTH global survey on current knowledge, attitudes, and preparedness of the hemophilia care team.
Therapeutic advances in hematologyHow Close Are We to Achieving Durable and Efficacious Gene Therapy for Hemophilia A and B?
GenesPoint-of-care musculoskeletal ultrasound for hemophilic arthropathy: a scoping review of scanning protocols by the Imaging Expert Working Group of the International Prophylaxis Study Group.
Research and practice in thrombosis and haemostasisSuppressing microtubule detyrosination augments adeno-associated virus 2 endosomal escape and gene delivery.
Journal of cell scienceConcizumab use in toddlers with hemophilia B and inhibitors real-world data from an international collaboration.
Journal of thrombosis and haemostasis : JTHHAEMFIX: Impact of Switching From SHL-FIX to EHL-FIX in Patients With Haemophilia B.
Haemophilia : the official journal of the World Federation of HemophiliaTherapeutic base editing to generate a gain-of-function F9 variant for hemophilia B.
BloodHealth-related quality of life in adults with hemophilia B after gene therapy with fidanacogene elaparvovec: results from the BENEGENE-2 trial.
Journal of thrombosis and haemostasis : JTH[Chinese guidelines on the treatment of hemophilia (2025)].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiTherapeutic advances in hemophilia: from molecular innovation to patient-centered global care.
Frontiers in medicinePreclinical Evaluation of AAV8-R338L Gene Therapy for Hemophilia: Efficacy, Pharmacokinetics, Distribution, Excretion and Toxicity in Mouse Models and Non-human Primates.
Pharmaceutical researchOrthopaedic Surgery Outcomes in Patients With Haemophilia A or B Treated With Extended Half-Life Recombinant Factor VIII and IX Fc Fusion Proteins: A Multicentre Prospective Study.
Haemophilia : the official journal of the World Federation of HemophiliaLifetime economic burden of hemophilia using a nationwide real-world healthcare data.
PloS oneThe effectiveness and safety of various treatments for hemophilia in China: a literature review and evidence mapping.
Hematology (Amsterdam, Netherlands)Tertiary prophylaxis with extended half-life factor prophylaxis: a model to reduce disability in low- and middle-income countries.
International journal of hematologyTailored collagen binding of albumin-fused hyperactive coagulation factor IX dictates in vivo distribution and functional properties.
Nature communicationsCharacterization of the clinical and laboratory phenotype of hemophilia carriers and trends of utilization of hemostatic therapies: analysis of the American Thrombosis and Hemostasis Network dataset.
Research and practice in thrombosis and haemostasisLeft Atrial Appendage Closure in a Hemophilia B Patient with Atrial Fibrillation.
Anatolian journal of cardiologyNatural history of preexisting AAV5 antibodies in adults with hemophilia B during the lead-in of the etranacogene dezaparvovec phase 3 study.
Molecular therapy. Methods & clinical developmentComparing Real-World Outcomes of Prophylaxis with Extended Half-life Factor IX (rIX-FP vs. rFIXFc and N9-GP) for Haemophilia B: An Analysis of Medical Chart Data from Germany.
Advances in therapyPharmacokinetics, Biodistribution, Immunogenicity, and Model-Informed-Based PK/PD Model of a Next-Generation Advanced Novel Gene Therapy for Hemophilia.
Molecular pharmaceuticsRecent Advances in Gene Therapy for Hemophilia.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisClinical features and surgical treatment of hemophilic pseudotumors: A single-center experience over a 20-year period.
Journal of the Chinese Medical Association : JCMAA precision gene-engineered B cell medicine producing sustained levels of active factor IX for hemophilia B therapy.
Molecular therapy : the journal of the American Society of Gene TherapyA comprehensive measurement of hemophilia economic burden in Iraq: a field-based study.
Expert review of pharmacoeconomics & outcomes researchDrug-Specific Calibration: A Solution to Reagent Variability in Extended Half-Life Factor IX Activity Measurements.
Haemophilia : the official journal of the World Federation of HemophiliaImpact of Severe Hemophilia on Costs and Quality of Life in South American Men: Findings From the CHESS LATAM Study.
Value in health regional issuesMissense and nonsense mutations and inhibitor development in patients with hemophilia A and B.
Journal of thrombosis and thrombolysisClotting factor concentrates for preventing bleeding and bleeding-related complications in previously untreated or minimally treated children with hemophilia A or B.
The Cochrane database of systematic reviewsAAV Gene Therapy in Severe Hemophilia B. Reply.
The New England journal of medicineAAV Gene Therapy in Severe Hemophilia B.
The New England journal of medicineProtease domain exosites regulate extravascular binding of factor IX(a).
Journal of thrombosis and haemostasis : JTHAssessment of Mandibular Trabecular Bone by Fractal Analysis on Digital Panoramic Radiograph in Patients with Inherited Bleeding Disorder.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral PathologyGene Therapy for Hemophilias: Opportunities and Challenges for the Clinical Laboratory.
Clinical chemistryTotal and Neutralizing Antibody Seroprevalence of Hepatotropic Adeno-Associated Virus Among Healthy and Hemophilia A or B Population from India.
Human gene therapyA Paradigm Shift in Hemophilia Care: The Promise of Gene Therapy.
Current gene therapyAssessing the health-state utility values of rare disease-hemophilia B using EQ-5D-5L: a study based on the Chinese population.
Orphanet journal of rare diseasesPopulation Modeling of Factor IX Activity Following Administration of Fidanacogene Elaparvovec Gene Therapy in Participants with Hemophilia B.
Clinical pharmacokinetics"An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B": reply.
Journal of thrombosis and haemostasis : JTH"An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B": comment from Lee et al.
Journal of thrombosis and haemostasis : JTHManagement of Pregnancy, Delivery, and Postpartum in Italian Carriers and Women With Haemophilia A and B.
Haemophilia : the official journal of the World Federation of HemophiliaOral health and quality of life in children with blood coagulation disorders and hemoglobinopathies. A cross-sectional study.
Journal of family medicine and primary careHepatocytes as Model for Investigating Natural Senotherapeutic Compounds and Their Effects on Cell Cycle Dynamics and Genome Stability.
International journal of molecular sciencesReal-World Prophylaxis Outcomes with rIX-FP and rFIXFc for Males with Hemophilia B: Pooled Analysis of Medical Chart Data from Germany and Italy.
Advances in therapySafety and Use of Eptacog Beta 225 µg/kg in Patients With Haemophilia A or B With Inhibitors.
Haemophilia : the official journal of the World Federation of HemophiliaJoint health in Chilean children with haemophilia on primary prophylaxis.
Thrombosis researchPreclinical Evaluation of the Systemic Safety, Efficacy, and Biodistribution of a Recombinant AAV8 Vector Expressing FIX-TripleL in Hemophilia B Mice: Implications for Human Gene Therapy.
International journal of molecular sciencesProsthesis survival situation and complications following total hip arthroplasty in hemophilic patients: a systematic review.
BMC musculoskeletal disorders[Chinese guidance for the clinical application of Adeno-associated virus vector-based gene therapy for hemophilia B (2025)].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi[Gene therapy marks the beginning of a potential "clinical cure" for hemophilia B patients].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiOral post-surgical complications in patients with hemophilia and von Willebrand disease.
Hematology, transfusion and cell therapyMarstacimab prophylaxis in hemophilia A/B without inhibitors: results from the phase 3 BASIS trial.
BloodTransforming Hemophilia Management: Lessons from Gene Therapy Clinical Trials.
Molecular biotechnologyMarstacimab for the Treatment of Hemophilia A or B.
Biologics : targets & therapyTransforming hemophilia care: emerging therapeutic innovations and challenges.
Expert review of hematologyFitusiran: First Approval.
DrugsInhibitor development in nonsevere hemophilia: data from the European Haemophilia Safety Surveillance (EUHASS) registry.
Research and practice in thrombosis and haemostasisPharmacokinetic evaluation of concizumab for the treatment of hemophilia.
Expert opinion on drug metabolism & toxicologyPain Reduction Following Eptacog Beta Treatment of Bleeding Episodes in Adolescents and Adults With Haemophilia A or B Complicated by Inhibitors.
Haemophilia : the official journal of the World Federation of HemophiliaEvaluation of One-Stage Assays for the Monitoring of Recombinant Human Factor IX Padua Activity After Etranacogene Dezaparvovec Gene Therapy.
Haemophilia : the official journal of the World Federation of HemophiliaAssessing stigma in a predominantly male hemophilia population: a Chinese cross-sectional study.
Frontiers in psychiatrySafety and efficacy of marstacimab in patients with hemophilia A and B: a systematic review and meta-analysis.
Expert review of hematologyMultiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP.
Nature structural & molecular biologyPharmaceutical perspectives on oligonucleotide therapeutics and delivery systems.
Pharmacological reviewsSustained Clinical Benefit of AAV Gene Therapy in Severe Hemophilia B.
The New England journal of medicineGene-based therapies for hemophilia.
Research and practice in thrombosis and haemostasisThe Indian Experience With Nonacog Beta Pegol for the Treatment of Hemophilia B in Children and Adolescents: A Safety and Efficacy Evaluation.
CureusChina's first approved gene therapy for hemophilia B: A new era for global AAV-based treatments.
Molecular therapy : the journal of the American Society of Gene TherapyIncidental Diagnosis of Christmas Disease in a 5-year-old Child: A Case Report.
International journal of clinical pediatric dentistryUnmet needs in hemophilic arthropathy.
Blood reviewsRelationship between Dose, Factor IX Activity Levels and Bleeding Probability for rIX-FP Prophylaxis in Hemophilia B: A Repeated Time-to-Event Analysis.
Clinical pharmacology and therapeuticsEvaluating the Safety and Efficacy of Concizumab in Hemophilia A/B Patients: A Systematic Review.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisConcizumab, a Non-Replacement Therapy for Persons with Hemophilia with Inhibitors.
Journal of clinical medicineCase Report: Severe hemophilia B patient with inhibitor and anaphylaxis reaction to FIX, successfully managed with concizumab prophylaxis therapy.
Frontiers in pediatricsThrombotic Complications in Hemophilia: An Intricate Conundrum.
Seminars in thrombosis and hemostasisSuccessful management with regular factor IX replacement during pregnancy in a hemophilia B carrier: A case report.
The journal of obstetrics and gynaecology researchReal-World Unmet Needs of Patients With Haemophilia A and Haemophilia B With or Without Inhibitors: End-of-Study Results From the explorer6 Non-Interventional Study.
Haemophilia : the official journal of the World Federation of HemophiliaA Systematic Review of the Oral Health Status of Hemophilic Patients.
Children (Basel, Switzerland)How can we improve healthcare outcomes for hemophilia B patients with inhibitors?
Expert review of hematologyAssessment of Clinical Characteristics and Sociocontextual Factors on Medication Adherence in Children and Adolescents With Hemophilia.
Pediatric blood & cancerVenous Thromboembolism Prophylaxis in Hemophilic Patients Undergoing Total Hip or Knee Arthroplasty: Insights from a Single-Center Experience.
Medicina (Kaunas, Lithuania)Comparison of Efficiency of Closed Kinetic Chain Exercises Versus Proprioceptive Exercises in Improving Balance and Gait in People With Hemophilia: Protocol for a Randomized Controlled Trial.
JMIR research protocolsHemophilia B With Intracranial Hemorrhage Rehabilitation in High-Dependency Unit: A Case Report.
Clinical case reportsThe Co-Occurrence of Low-Frequency Pathogenic Variants in TBXA2R Exacerbating the Hemorrhagic Symptoms in Siblings with Hemophilia B.
Seminars in thrombosis and hemostasisThe proportion of young male hemophilia patients who underwent ultrasound examinations: an observational study using a nationwide claims database.
Thrombosis journalFidanacogene Elaparvovec for Hemophilia B - A Multiyear Follow-up Study.
The New England journal of medicineDevelopment of a novel gene editing lexicon for hemophilia: methodology and results.
Research and practice in thrombosis and haemostasisExtravascular factor IX after gene therapy in hemophilia B, does it matter?
Research and practice in thrombosis and haemostasisTrenonacog alfa safety, efficacy, and pharmacokinetics in previously treated pediatric hemophilia B.
Research and practice in thrombosis and haemostasisFitusiran: The first approved siRNA therapy for hemophilia via reducing plasma antithrombin levels.
Drug discoveries & therapeuticsRevolutionizing Treatment Strategies through Inhibition of Tissue Factor Pathway Inhibitor: A Promising Therapeutic Approach for Hemophilia Management.
The Journal of the Association of Physicians of IndiaLong-offset paired nicking-based efficient and precise strategy for in vivo targeted insertion.
Trends in biotechnologyGene therapy for hemophilia B: results from the phase 1/2 101HEMB01/02 studies.
Blood advancesIdentification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.
Journal of blood medicineCompletion of phase 2b trial of etranacogene dezaparvovec gene therapy in patients with hemophilia B over 5 years.
Blood advancesQuality of life of children and adolescents with hemophilia receiving low-dose prophylactic treatment.
International journal of hematologyGene therapy as an innovative approach to the treatment of hemophilia B-a review.
Journal of applied geneticsPerformance of a Drug-Specific Calibration Curve for Monitoring Treatment With Albutrepenonacog Alfa: A Multicenter Study in Argentina.
International journal of laboratory hematologyConcizumab prophylaxis in people with hemophilia A or B without inhibitors: patient-reported outcome results from the phase 3 explorer8 study.
Research and practice in thrombosis and haemostasisEngineering a photoactivatable A-to-I RNA base editor for gene therapy in vivo.
Nature biotechnologyAn Observational Study of Glycopegylated Extended Half-Life Factor Prophylaxis in Hemophilia A and B in a Tertiary Care Center in India.
CureusGene therapy for hemophilia - From basic science to first approvals of "one-and-done" therapies.
Molecular therapy : the journal of the American Society of Gene TherapyEnhancing hemostasis potency in hemophilia with a small interfering ribonucleic acid targeting protein S.
Journal of thrombosis and haemostasis : JTHClinical and Economic Burden of Patients With Haemophilia A and B in France: Analysis of a Nationwide Claims Database.
Haemophilia : the official journal of the World Federation of HemophiliaPhysical activity and handgrip strength in patients with mild, moderate and severe haemophilia: Impacts on bone quality and lean mass.
PloS oneCRISPR/Cas9 mediated generation of zebrafish f9a mutant as a model for hemophilia B.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisFactor activity levels and bleeding scores in hemophilia carriers: apparent paradoxes.
Journal of thrombosis and haemostasis : JTHFracture Risk in People With Haemophilia A and B: A Systematic Review and Meta-Analysis.
Haemophilia : the official journal of the World Federation of HemophiliaCould PTH/Ca Ratio Serve as a New Marker for Evaluating Bone Metabolism in Hemophilia Patients?
Diagnostics (Basel, Switzerland)Safety and efficacy of a fitusiran antithrombin-based dose regimen in people with hemophilia A or B: the ATLAS-OLE study.
BloodRecombinant factor VIIa: new insights into the mechanism of action through product innovation.
Research and practice in thrombosis and haemostasisDevelopment of iPSC-derived FIX-secreting hepatocyte sheet as a novel treatment tool for hemophilia B treatment.
Stem cell research & therapyMultiplex, multimodal mapping of variant effects in secreted proteins.
bioRxiv : the preprint server for biologyChanges in Hemophilia Treatment in the Eastern Part of Germany between 2015 and 2021-Data from the Kompetenznetz Hämorrhagische Diathese Ost (KHDO).
HamostaseologieBleeding Episodes in Patients With Haemophilia B Receiving Prophylactic Factor IX Treatment: A Systematic Review and Meta-Analysis.
Haemophilia : the official journal of the World Federation of HemophiliaGene-ius at work: Hemophilia B treatment enters a new era.
American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System PharmacistsCould targeted gene insertion of factor 9 be a potential durable treatment for Hemophilia B?
Expert review of hematologyPsychometric Validation of the Hemophilia Functional Ability Scoring Tool (Hemo-FAST).
Thrombosis and haemostasisAdipose derived stromal vascular fraction cells therapy in hemophilic arthropathy: A case report.
Agri : Agri (Algoloji) Dernegi'nin Yayin organidir = The journal of the Turkish Society of AlgologyTotal Hip Arthroplasty for Avascular Necrosis in a Patient With Hemophilia B.
Arthroplasty todayNonneutralizing antibodies in Nordic persons with moderate hemophilia A and B (the MoHem study).
Research and practice in thrombosis and haemostasisCRISPR/Cas9 Edition of the F9 Gene in Human Mesenchymal Stem Cells for Hemophilia B Therapy.
Life (Basel, Switzerland)Hemophilia B Leyden: characteristics and natural history in the International Pediatric Network of Hemophilia Management Registry.
Journal of thrombosis and haemostasis : JTHInvasive Intracranial Electroencephalography Monitoring in the Child with a Bleeding Disorder: Challenges and Considerations.
Pediatric neurosurgeryEvaluation of discrepancy between clot-based and chromogenic factor IX coagulation assays in non-severe hemophilia B patients and identification of the causing mutations.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisMarstacimab: First Approval.
DrugsDental management of people with congenital hemophilia: An integrative review of case reports and case series from a global scenario.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistrySystematic review of cost-effectiveness modelling studies for haemophilia.
Journal of medical economicsBleed treatment with eptacog beta (rFVIIa) results in a low incidence of rebleeding in adult and adolescent patients with haemophilia A or B with inhibitors.
Haemophilia : the official journal of the World Federation of HemophiliaThe history of women and hemophilia: a narrative review of evolving beliefs and testing practices.
Journal of thrombosis and haemostasis : JTHDigital Technologies in Hereditary Coagulation Disorders: A Systematic Review.
HamostaseologieLong-term safety and efficacy of fitusiran prophylaxis, and perioperative management, in people with hemophilia A or B.
Blood advancesORPHEE: A Real-World Study on rIX-FP Prophylaxis Use in Adolescent/Adult Patients With Hemophilia B.
European journal of haematologyEvaluating the Cost-Effectiveness of Etranacogene Dezaparvovec Gene Therapy for Hemophilia B Treatment in the USA.
Applied health economics and health policySecond gene therapy for hemophilia B approved: More answers or questions?
Molecular therapy : the journal of the American Society of Gene TherapyNon-factor Therapies for Hemophilia: Achievements and Perspectives.
Seminars in thrombosis and hemostasisThe Evolution of Hemophilia Pharmacological Treatments and Therapeutic Targets at the Turn of the Third Millennium.
Seminars in thrombosis and hemostasisAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Current Status of Clinical Gene Therapy for Hemophilia and Globin Disorders.
- Safety, efficacy and patient-reported outcomes 6 years after fidanacogene elaparvovec in adults with hemophilia B.
- Health Related Quality of Life (HRQoL) and the Factors Affecting it in Children with Hemophilia.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41728186mais citado
- Liver Transplantation for a Patient With Hemophilia and HIV/HCV Coinfection Complicated by Pulmonary Hypertension.Hepatology research : the official journal of the Japan Society of Hepatology· 2026· PMID 41555648mais citado
- Concizumab in hemophilia with inhibitors: longer-term efficacy and safety results from the phase 3 explorer7 study.
- The Prevalence of Coagulation Factor Deficiency Among Pediatric Populations in Medina City, Saudi Arabia.
- Integrating Clinical, Functional, and Patient-Reported Outcomes in Haemophilia Care: A Delphi-Based Consensus on a New Monitoring Tool.
- Diagnosis and management of hemophilia A and B.
- Signals of Toxicity Associated With Gene Therapy: The Case of Etranacogene Dezaparvovec in the Treatment of Hemophilia B.
- Cardiac surgery in an infant hemophilia B carrier with moderate hemophilia: a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98879(Orphanet)
- OMIM OMIM:306900(OMIM)
- MONDO:0010604(MONDO)
- Hemofilia Hereditaria(PCDT · Ministério da Saúde)
- GARD:8732(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q2562598(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
