A hemofilia B grave é uma forma de hemofilia B caracterizada por uma grande deficiência de fator IX, levando a hemorragias espontâneas frequentes e sangramento anormal como resultado de ferimentos leves ou após cirurgia ou extração dentária.
Introdução
O que você precisa saber de cara
A hemofilia B grave é uma doença genética rara em que o organismo quase não produz o fator IX, uma proteína indispensável para conter sangramentos. Por causa dessa deficiência profunda, a pessoa pode apresentar hemorragias que surgem de repente, além de perdas anormais de sangue após pequenos machucados ou procedimentos na boca. Os primeiros episódios hemorrágicos costumam ser notados pelas famílias logo nos primeiros meses de vida ou durante a primeira infância. No SUS, está previsto o procedimento hospitalar de infusão de fator IX para o cuidado da condição, embora novas opções como o marstacimabe tenham sido recusadas pela CONITEC.
A hemofilia B grave é uma forma de hemofilia B caracterizada por uma grande deficiência de fator IX, levando a hemorragias espontâneas frequentes e sangramento anormal como resultado de ferimentos leves ou após cirurgia ou extração dentária.
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
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.
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 IX exogenous protein
Variantes genéticas (ClinVar)
533 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1 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 grave
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
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Pesquisa e ensaios clínicos
2 ensaios clínicos encontrados.
Publicações mais relevantes
Efficacy and safety of marstacimab prophylaxis in hemophilia A/B with inhibitors: results from the phase 3 BASIS trial.
Marstacimab, a monoclonal antibody that inhibits tissue factor pathway inhibitor, is approved for prophylactic use in individuals with hemophilia A or B without inhibitors. We present efficacy and safety for individuals with inhibitors. The open-label, single-arm, phase 3 study evaluated once-weekly subcutaneous flat-dose marstacimab in males aged 12 to <75 years with severe hemophilia A or moderately severe to severe hemophilia B. Participants with inhibitors received bypassing agents (on-demand or routine prophylaxis) during a 6-month observational phase (OP) before entering a 12-month active treatment phase (ATP) with marstacimab. Primary end points were annualized bleeding rate (ABR) of treated bleeds and safety. Of 60 participants with inhibitors in the OP, 51 entered the ATP and received marstacimab. In the on-demand group (n = 48), mean estimated ABR declined from 19.78 (95% confidence interval [CI], 16.12-24.27) in the OP to 1.39 (95% CI, 0.85-2.29) during the ATP (ABR ratio, 0.07 [95% CI, 0.042-0.118]; 2-sided P< .0001). Results were consistent by hemophilia type (ABR ratio, 0.05 [hemophilia A, n = 40]; 0.13 [hemophilia B, n = 8]). Participants reported significant improvements in health-related quality of life. Adverse events were common but mostly mild; 1 treatment-related grade 3 skin rash led to discontinuation. Antidrug antibodies were detected in 19.6% of participants, with no apparent effect on efficacy or safety. In participants with inhibitors, marstacimab was associated with reduced bleeding rates and an acceptable safety profile, with no thromboembolic events. Marstacimab may be a viable treatment option for people with hemophilia A or B with inhibitors. This trial was registered at www.clinicaltrials.gov as #NCT03938792. ClinicalTrials.gov identifier: NCT03938792.
An analysis of attitudes toward gene therapy in people with severe hemophilia in Germany, a survey-based cross-sectional study.
Severe hemophilia traditionally requires lifelong prophylactic treatment, which cannot fully prevent joint damage and significantly impacts patients' quality of life. In recent years, gene therapy has been extensively researched as a potential cure with a single infusion, but it has not yet gained widespread acceptance. This study examines the knowledge and attitudes of people with severe hemophilia regarding gene therapy to provide guidance to practitioners in the context of shared decision-making. Cross-sectional observational study based on a standardized questionnaire. A questionnaire developed by Cutica, Ilaria et al. was evaluated in a self-reported, anonymized survey for a German cohort of 59 people with severe hemophilia. It covered sociodemographic and clinical characteristics, knowledge, attitudes, risk tolerance, and decision-making preferences. Among 59 people with severe hemophilia A and 10 with severe hemophilia B, 59% expressed a predominantly rejective attitude toward gene therapy. Most had only general knowledge of gene therapy. Concerns about long-term side effects (e.g., cancer development) significantly contribute to a negative attitude toward gene therapy (p = 0.005). People with hemophilia and an annual bleeding rate ⩾1 show a significantly higher willingness to consider or accept gene therapy (p = 0.001). Rejection of gene therapy is significantly associated with high expectations regarding its duration of efficacy and the minimum clotting factor level. Further studies are needed to refine educational concepts for people with hemophilia and clear out misconceptions about gene therapy. How German men with severe haemophilia feel about one-time gene therapy We asked 69 German men with severe haemophilia A or B what they know and feel about gene therapy, a new one-time treatment that could help their bodies make the missing clotting factor. Most take regular infusions or the bispecific antibody emicizumab to prevent bleeds. Although 100% said they are satisfied with today’s care, three out of four still live with chronic joint pain and almost half avoid sports because of bleeding risk. Two-thirds had heard of gene therapy, mainly from their doctors or patient groups. Only about half could answer more than half of the knowledge questions correctly, showing many gaps and misconceptions. 59% said they would reject gene therapy right now. The biggest worry is long-term safety, especially fear of cancer or liver problems from the treatment and the steroid medicines used to manage side effects. People who expect the treatment to last “for life” or raise clotting factor to normal levels are more likely to say no when those guarantees are not yet proven. Now who is interested? Men who still have at least one bleed a year are much more willing to consider gene therapy, suggesting that living with frequent bleeds outweighs safety worries for some. Conclusion: Clear, easy-to-understand information is needed about how gene therapy works, its real benefits, limits, and side effects can help patients make informed choices together with their doctors. Addressing safety concerns directly and setting realistic expectations may increase acceptance over time.
Etranacogene dezaparvovec in people with hemophilia B with preexisting adeno-associated virus 5 neutralizing antibodies: 4-year subgroup results from the HOPE-B trial.
Health Outcomes with Padua Gene; Evaluation in Hemophilia B (HOPE-B) is the first phase 3 trial of adeno-associated virus (AAV) serotype 5 vector-based gene therapy for hemophilia B to have enrolled participants with neutralizing antibodies (NAbs) to the viral vector. Evaluate the efficacy and safety of etranacogene dezaparvovec in a post hoc subgroup of participants with preexisting AAV5 NAbs 4 years posttherapy. After a ≥6-month lead-in period on continuous prophylaxis, people with moderately severe/severe hemophilia B (factor [F]IX ≤ 2%) received a single infusion of etranacogene dezaparvovec. AAV5 NAb status prior to infusion was determined. FIX activity, annualized bleeding rates (ABRs), and safety were evaluated in participants with preexisting AAV5 NAbs. A total of 21/54 participants had detectable preexisting AAV5 NAbs (titer: 8.5-678, n = 20; titer: 3212, n = 1). Two participants did not respond to treatment (high titer: 3212, n = 1; received partial dose, n = 1). The mean FIX activity was 36 IU/dL (SD, 18) at 1 year (n = 18) and 34 IU/dL (SD, 16) at 4 years (n = 15) posttreatment. Unadjusted ABRs for all bleeds (treated and untreated) decreased by 74.4% from 4.64 during lead-in to 1.18 during months 7 to 48 (n = 21). ABRs for spontaneous and joint bleeds decreased by 79% and 82%, respectively. The mean FIX consumption decreased from 245,476 IU/y (SD, 144,497) during lead-in to 23,975 IU/y (SD, 48.928) during years 1 to 4 (P < .0001). The most frequent treatment-related adverse events were infusion-related reactions (23.8%) and transient alanine aminotransferase elevations (14.3%). No late hepatotoxicity was observed. Etranacogene dezaparvovec demonstrated long-term efficacy and safety in individuals with preexisting AAV5 NAb titers ≤ 678, expanding eligibility for gene therapy to a broader hemophilia B population.
Etranacogene 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.
In the phase 3 Health Outcomes with Padua Gene; Evaluation in Hemophilia B (HOPE-B) trial, a single dose of etranacogene dezaparvovec was administered to people with severe or moderately severe hemophilia B following a lead-in period (≥6 months) during which they received factor (F)IX prophylaxis. Participants were enrolled regardless of adeno-associated virus serotype 5 (AAV5)-neutralizing antibody (NAb) status at screening. To determine efficacy, pharmacokinetic, and safety outcomes over 4 years postgene therapy in HOPE-B participants who were NAb-negative (NAb-). Participants provided serum samples for AAV5 NAb determination using an in vitro AAV5 transduction inhibition assay prior to etranacogene dezaparvovec infusion. Participants who were AAV5 NAb- at this time point were examined in the post hoc subgroup analysis. In NAb- participants (N = 33), the mean adjusted annualized bleeding rate was significantly reduced between months 7 and 48 postetranacogene dezaparvovec vs lead-in (0.57 vs 3.80; P < .0001). In years 1 to 4, the annualized bleeding rates were 0.99, 0.72, 0.41, and 0.41, respectively (P < .0001 vs lead-in; N = 33 throughout). The mean (SD) endogenous FIX activity was 40.6 IU/dL (18.6) at month 6 postinfusion (N = 33), remained stable, and was 39.0 IU/dL (16.8) at year 4 (N = 33). Exogenous FIX consumption decreased by 99% during months 7 to 48 vs the lead-in period, and no NAb- participant returned to continuous FIX prophylaxis for 4 years postinfusion. No treatment-related oncogenic events or persistent late hepatotoxicity were observed. Etranacogene dezaparvovec proved to be highly effective, superior to FIX prophylaxis for bleeding protection, and safe for 4 years postinfusion in NAb- persons with severe or moderately severe hemophilia B.
Assessing 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.
In the United States, rIX-FP, rFIXFc, and rFIX are approved as treatment options for people with hemophilia B (PwHB). Although clinical trials have demonstrated the efficacy and safety of each product, real-world data can help to understand their use and treatment outcomes in the absence of direct head-to-head trials. To assess real-world factor IX (FIX) consumption and bleeding outcomes for PwHB receiving rIX-FP, rFIXFc, or rFIX prophylaxis. Retrospective, deidentified medical record information for PwHB with moderate or severe hemophilia B (FIX activity ≤5%) treated with rIX-FP, rFIXFc, or rFIX prophylaxis for at least 12 months was obtained from Hemophilia Treatment Centers in the United States between 2020 and 2023. FIX consumption was calculated using the most recently prescribed dosing frequency and dosage. Annualized bleeding rate (ABR), annualized spontaneous bleeding rate, and annualized joint bleeding rate were calculated based on the number of bleeding events over the observation period. Generalized linear models adjusting for covariates were used to test the statistical significance of the differences of consumption and ABR among the products. Overall, 213 PwHB (53% with severe disease) aged 12 years and older were included for main analysis, with a mean age (range) of 32.7 (12-84) years. PwHB treated with rIX-FP prophylaxis had significantly lower mean FIX consumption compared with those receiving rFIXFc (45.8 vs 65.4 IU/kg/week; P = 0.0003) and rFIX (95.7 IU/kg/week; P < 0.0001). The mean dosing interval was 10.2, 7.3, and 5.2 days for rIX-FP, rFIXFc, and rFIX, respectively. Mean ABR was significantly lower in PwHB receiving rIX-FP compared with the other 2 products (rIX-FP vs rFIXFc: 1.2 vs 2.1; P = 0.0119; rIX-FP vs rFIX: 1.2 vs 2.3; P = 0.004). Mean annualized spontaneous bleeding rate was 0.4, 1.0, and 0.7 for rIX-FP, rFIXFc, and rFIX, respectively. Mean annualized joint bleeding rate was 0.7, 1.1, and 1.2 for rIX-FP, rFIXFc, and rFIX, respectively. The pattern of results for PwHB of all ages (including those aged <12 years, N = 50) were similar to those reported for PwHB aged 12 years and older. In a subgroup of 16 PwHB who switched to rIX-FP from a previous FIX product, mean FIX consumption was significantly reduced after switching to rIX-FP (49.0 vs 94.2 IU/kg/week; P = 0.0004). Mean ABR was also significantly reduced after switching to rIX-FP (3.2 vs 1.7; P = 0.0009). In this retrospective study, rIX-FP prophylaxis was associated with lower FIX consumption and potentially improved protection against bleeds compared with prophylactic treatment with rFIXFc and rFIX.
Publicações recentes
An analysis of attitudes toward gene therapy in people with severe hemophilia in Germany, a survey-based cross-sectional study.
Etranacogene dezaparvovec in people with hemophilia B with preexisting adeno-associated virus 5 neutralizing antibodies: 4-year subgroup results from the HOPE-B trial.
Etranacogene 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.
Efficacy and safety of marstacimab prophylaxis in hemophilia A/B with inhibitors: results from the phase 3 BASIS trial.
Assessing 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.
📚 EuropePMC77 artigos no totalmostrando 124
An analysis of attitudes toward gene therapy in people with severe hemophilia in Germany, a survey-based cross-sectional study.
Therapeutic advances in hematologyEtranacogene 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 haemostasisEtranacogene 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 haemostasisEfficacy and safety of marstacimab prophylaxis in hemophilia A/B with inhibitors: results from the phase 3 BASIS trial.
BloodAssessing 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 pharmacyClinical features and surgical treatment of hemophilic pseudotumors: A single-center experience over a 20-year period.
Journal of the Chinese Medical Association : JCMAImpact of Severe Hemophilia on Costs and Quality of Life in South American Men: Findings From the CHESS LATAM Study.
Value in health regional issuesAAV Gene Therapy in Severe Hemophilia B. Reply.
The New England journal of medicineAAV Gene Therapy in Severe Hemophilia B.
The New England journal of medicineAssessment 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 PathologyReal-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 therapySustained Clinical Benefit of AAV Gene Therapy in Severe Hemophilia B.
The New England journal of medicineCase Report: Severe hemophilia B patient with inhibitor and anaphylaxis reaction to FIX, successfully managed with concizumab prophylaxis therapy.
Frontiers in pediatricsFidanacogene Elaparvovec for Hemophilia B - A Multiyear Follow-up Study.
The New England journal of medicineTrenonacog alfa safety, efficacy, and pharmacokinetics in previously treated pediatric hemophilia B.
Research and practice in thrombosis and haemostasisCompletion of phase 2b trial of etranacogene dezaparvovec gene therapy in patients with hemophilia B over 5 years.
Blood advancesEvaluation 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 HaemapheresisEvaluating the Cost-Effectiveness of Etranacogene Dezaparvovec Gene Therapy for Hemophilia B Treatment in the USA.
Applied health economics and health policyIntracranial hemorrhage in an infant leads to the diagnosis and treatment of severe hemophilia B: a case report.
Italian journal of pediatricsA transposable element prevents severe hemophilia B and provides insights into the evolution of new- and old world primates.
PloS oneImages of Temporomandibular Joint Arthropathy in Patient with Severe Hemophilia B with Inhibitor and Patient with Type III von Willebrand Disease with Inhibitor.
Turkish journal of haematology : official journal of Turkish Society of HaematologyA de novo int22h-1/int22h-2-flanked Xq28 deletion-associated preferential X-inactivation in a female with severe hemophilia B.
Pediatric blood & cancerThe genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation.
Molecular genetics & genomic medicinePharmacokinetic model-based assessment of factor IX prophylaxis treatment regimens in severe hemophilia B.
Scientific reportsMycobacterium cosmeticum catheter-related bloodstream infection in an immunocompetent patient: A case report and review of the literature.
IDCasesSuccessful immunosuppressive drug-free immune tolerance induction in hemophilia B with inhibitor and anaphylaxis to factor IX: A case report.
Clinical case reportsInhibitor development according to concentrate after 50 exposure days in severe hemophilia: data from the European HAemophilia Safety Surveillance (EUHASS).
Research and practice in thrombosis and haemostasisAnalysis of long-term clinical and cost impact of etranacogene dezaparvovec for the treatment of hemophilia B population in the United States.
Journal of medical economicsAssessing health plan payer's budget impact of etranacogene dezaparvovec for the treatment of hemophilia B in the United States.
Journal of managed care & specialty pharmacySafety and Efficacy of Recombinant Fusion Protein Linking Coagulation Factor IX with Albumin (rIX-FP) in Previously Untreated Patients with Hemophilia B.
TH open : companion journal to thrombosis and haemostasisA Post-Authorization Safety Surveillance Study to Report Clinical Experience with Purified Factor IX Concentrate in Pediatric Patients with Hemophilia B.
Journal of blood medicinePortal vein thrombosis in a patient with severe hemophilia B: A challenging balanced management.
Clinical case reportsInhibitor development according to concentrate in severe hemophilia: reporting on 1392 Previously Untreated Patients from Europe and Canada.
Research and practice in thrombosis and haemostasisKnowledge and attitudes toward gene therapy of a cohort of Italian patients with hemophilia.
Journal of thrombosis and haemostasis : JTHExtravascular factor IX pool fed by prophylaxis is a true hemostatic barrier against bleeding.
Journal of thrombosis and haemostasis : JTHMatching-Adjusted Indirect Comparison of Recombinant Factor IX Albumin Fusion Protein Versus Recombinant Factor IX Fc Fusion Protein for Weekly Prophylactic Treatment of Hemophilia B.
Advances in therapyComplete F9 Gene Deletion, Duplication, and Triplication Rearrangements: Implications for Factor IX Expression and Clinical Phenotypes.
Thrombosis and haemostasisUsing Real-World Data to Inform Value-Based Contracts for Cell and Gene Therapies in Medicaid.
PharmacoEconomicsEtranacogene dezaparvovec for the treatment of adult patients with severe and moderately severe hemophilia B.
Expert review of hematologyNonacog Alfa for Prophylaxis and Treatment of Bleeding Episodes in Previously Treated Patients with Moderately Severe or Severe Hemophilia B in India.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionHemophilia Gene Therapy: The End of the Beginning?
Human gene therapyGene Therapy Approaches for the Treatment of Hemophilia B.
International journal of molecular sciencesManaging Relevant Clinical Conditions of Hemophilia A/B Patients.
Hematology reportsAssessment of joint bleeding and target joints in patients with severe or moderately severe hemophilia B (factor IX ≤2%) receiving prophylaxis with rIX-FP in the PROLONG-9FP clinical trial program.
European journal of haematologyPAM-flexible Cas9-mediated base editing of a hemophilia B mutation in induced pluripotent stem cells.
Communications medicineSuccessful Multidisciplinary Management of Aortic Valve Repair in Severe Hemophilia B with Extended Half-Life Recombinant Factor IX Concentrate.
Acta haematologicaPost hoc longitudinal assessment of the efficacy and safety of recombinant factor IX Fc fusion protein in hemophilia B.
Blood advancesCost-effectiveness analysis of recombinant factor IX Fc fusion protein compared with recombinant factor IX for the treatment of moderate-severe to severe hemophilia B in China.
Pediatric blood & cancerGene Therapy with Etranacogene Dezaparvovec for Hemophilia B.
The New England journal of medicineF8/F9 variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia and Allied Disorders and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project.
Research and practice in thrombosis and haemostasisReal-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.
CureusHealth Related Quality of Life and Psychopathological Symptoms in People with Hemophilia, Bloodborne Co-Infections and Comorbidities: An Italian Multicenter Observational Study.
Mediterranean journal of hematology and infectious diseasesStable and durable factor IX levels in patients with hemophilia B over 3 years after etranacogene dezaparvovec gene therapy.
Blood advancesComprehensive analysis and prediction of long-term durability of factor IX activity following etranacogene dezaparvovec gene therapy in the treatment of hemophilia B.
Current medical research and opinionProgress, and prospects in the therapeutic armamentarium of persons with congenital hemophilia. Defining the place for liver-directed gene therapy.
Blood reviewsActivated partial thromboplastin time-based clot waveform analysis enables measurement of very low levels of factor IX activity in patients with severe hemophilia B.
International journal of hematologyPhase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B.
The New England journal of medicineFactor IX antibodies and tolerance in hemophilia B in the Nordic countries - The impact of F9 variants and complications.
Thrombosis researchNeurosurgery in a patient with severe hemophilia B: an experience using eftrenonacog alfa as perioperative management.
Clinical case reportsThe Molecular Basis of FIX Deficiency in Hemophilia B.
International journal of molecular sciencesInvisible bleeds: Lived experiences and barriers to care for men with hemophilia.
Journal of thrombosis and haemostasis : JTHRecombinant factor IX-Fc fusion protein in severe hemophilia B: Patient-reported outcomes and health-related quality of life.
Research and practice in thrombosis and haemostasisMolecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.
International journal of laboratory hematology[Risk factors of inhibitor development among hemophilia patients revealed in a 10-year prospective cohort study in Japan, J-HIS2 (Japan Hemophilia Inhibitor Study 2)].
[Rinsho ketsueki] The Japanese journal of clinical hematologyGene therapy for hemophilia: a review on clinical benefit, limitations, and remaining issues.
BloodThe cost-effectiveness of gene therapy for severe hemophilia B: a microsimulation study from the United States perspective.
BloodClinical, humanistic, and economic burden of severe hemophilia B in the United States: Results from the CHESS US and CHESS US+ population surveys.
Orphanet journal of rare diseasesHemostatic Management in an Infant With Neuroblastoma and Severe Hemophilia B With Extended Half-life Recombinant Factor IX Fusion Protein.
Journal of pediatric hematology/oncologyOnce-weekly prophylaxis regimen of nonacog alfa in patients with hemophilia B: an analysis of timing of bleeding event onset.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisSafety, pharmacokinetics, and pharmacodynamics of a next-generation subcutaneously administered coagulation factor IX variant, dalcinonacog alfa, in previously treated hemophilia B patients.
Journal of thrombosis and haemostasis : JTHThe novel mutation p.Asp315Tyr causes severe hemophilia B by impairing coagulation factor IX expression.
Thrombosis researchPharmacodynamics of eftrenonacog-alfa (rFIX-Fc) in severe hemophilia B patients: A real-life study.
European journal of pharmacologySafety, Immunogenicity, and Hemostatic Efficacy of Nonacog Gamma in Patients With Severe or Moderately Severe Hemophilia B: A Continuation Study.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisPhase 3 Clinical Trial: Perioperative Use of Nonacog Gamma, a Recombinant Factor IX, in Previously Treated Patients With Moderate/Severe Hemophilia B.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisBleeder With a Clot: Thrombosis Following Treatment of Bleeding in a Child With Severe Hemophilia B.
Journal of pediatric hematology/oncologyFactor VIII-driven changes in activated factor IX explored by hydrogen-deuterium exchange mass spectrometry.
BloodLong-Term Follow-Up of the First in Human Intravascular Delivery of AAV for Gene Transfer: AAV2-hFIX16 for Severe Hemophilia B.
Molecular therapy : the journal of the American Society of Gene TherapyThe impact of extended half-life factor concentrates on prophylaxis for severe hemophilia in the United States.
American journal of hematologyPathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B.
PLoS geneticsLong-Term Safety and Efficacy of Recombinant Coagulation Factor IX Albumin Fusion Protein (rIX-FP) in Previously Treated Pediatric Patients with Hemophilia B: Results from a Phase 3b Extension Study.
Thrombosis and haemostasisVascularized Free Tissue Transfer in a Patient with Hemophilia B: Case Report and Literature Review.
Case reports in surgeryMolecular Mechanisms of Inhibitor Development in Hemophilia.
Mediterranean journal of hematology and infectious diseasesInhibitor incidence in an unselected cohort of previously untreated patients with severe haemophilia B: a PedNet study.
HaematologicaGene therapy for hemophilia.
Hematology. American Society of Hematology. Education ProgramEnhanced Factor IX Activity following Administration of AAV5-R338L "Padua" Factor IX versus AAV5 WT Human Factor IX in NHPs.
Molecular therapy. Methods & clinical developmentEtranacogene dezaparvovec (AMT-061 phase 2b): normal/near normal FIX activity and bleed cessation in hemophilia B.
Blood advancesMutation of Factor IX Cys178 is intolerant and may cause severe hemophilia B.
Thrombosis researchEstablishing the Prevalence and Prevalence at Birth of Hemophilia in Males: A Meta-analytic Approach Using National Registries.
Annals of internal medicineMild-severe hemophilia B impacts relationships of US adults and children with hemophilia B and their families: results from the B-HERO-S study.
Patient related outcome measuresDevelopment of an inhibitor in a child with severe hemophilia B: treatment with immunosuppression and an extended desensitization protocol.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisExtending recombinant factor IX Fc fusion protein dosing interval to 14 or more days in patients with hemophilia B.
Research and practice in thrombosis and haemostasisPopulation pharmacokinetics of factor IX in hemophilia B patients undergoing surgery.
Journal of thrombosis and haemostasis : JTHReliability and validity of patient-reported outcome instruments in US adults with hemophilia B and caregivers in the B-HERO-S study.
European journal of haematologyrFIXFc for Immune Tolerance Induction in a Severe Hemophilia B Patient with an Inhibitor and Prior History of ITI Related Nephrotic Syndrome.
Haemophilia : the official journal of the World Federation of HemophiliaGenetic Risk Factors and Inhibitor Development in Hemophilia: What Is Known and Searching for the Unknown.
Seminars in thrombosis and hemostasis[Giant hemophilic pseudotumors in brothers with non-severe hemophilia B].
[Rinsho ketsueki] The Japanese journal of clinical hematologySclerotherapy of esophageal varices in hemophilia patients with liver cirrhosis - a prospective, controlled clinical study.
Polski przeglad chirurgicznyReal-World Analysis of Dispensed IUs of Coagulation Factor IX and Resultant Expenditures in Hemophilia B Patients Receiving Standard Half-Life Versus Extended Half-Life Products and Those Switching from Standard Half-Life to Extended Half-Life Products.
Journal of managed care & specialty pharmacyNovel alternate hemostatic agents for patients with inhibitors: beyond bypass therapy.
Hematology. American Society of Hematology. Education Program[Immune tolerance induction in a case of hemophilia B with inhibitor with prothrombin complex concentrate and rituximab].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiIn silico evaluation of limited blood sampling strategies for individualized recombinant factor IX prophylaxis in hemophilia B patients.
Journal of thrombosis and haemostasis : JTHMonitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity.
International journal of laboratory hematologyManagement of US men, women, and children with hemophilia and methods and demographics of the Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study.
European journal of haematologyImpact of mild to severe hemophilia on education and work by US men, women, and caregivers of children with hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study.
European journal of haematologyAutophagy determines efficiency of liver-directed gene therapy with adeno-associated viral vectors.
Hepatology (Baltimore, Md.)Once-weekly prophylactic dosing of recombinant factor IX improves adherence in hemophilia B.
Journal of blood medicineContinuous prophylaxis with recombinant factor IX Fc fusion protein and conventional recombinant factor IX products: comparisons of efficacy and weekly factor consumption.
Journal of medical economicsStudy of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.
Journal of thrombosis and haemostasis : JTHThe higher prevalence of missense mutations in hemophilia B compared to hemophilia A could be important in determining a milder clinical phenotype in patients with severe hemophilia B.
HaematologicaPopulation pharmacokinetics of a new long-acting recombinant coagulation factor IX albumin fusion protein for patients with severe hemophilia B.
Journal of thrombosis and haemostasis : JTHA milder clinical course for severe hemophilia B: a true or biased effect?
HaematologicaMeasuring factor IX activity of nonacog beta pegol with commercially available one-stage clotting and chromogenic assay kits: a two-center study.
Journal of thrombosis and haemostasis : JTHNew developments in the management of moderate-to-severe hemophilia B.
Journal of blood medicinePharmacokinetics, Efficacy, and Safety of Nonacog Alfa in Previously Treated Patients with Moderately Severe to Severe Hemophilia B.
Clinical therapeuticsCRISPR/Cas9-mediated somatic correction of a novel coagulator factor IX gene mutation ameliorates hemophilia in mouse.
EMBO molecular medicineGene therapy for hemophilia: past, present and future.
Seminars in hematologyLong-acting recombinant coagulation factor IX albumin fusion protein (rIX-FP) in hemophilia B: results of a phase 3 trial.
BloodCosts and utilization of treatment in patients with hemophilia.
BMC health services researchClinical, instrumental, serological and histological findings suggest that hemophilia B may be less severe than hemophilia A.
HaematologicaSuccessful treatment of immune tolerance induction with rituximab in a patient with severe hemophilia B and inhibitor.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisExpression and characterization of a novel human recombinant factor IX molecule with enhanced in vitro and in vivo clotting activity.
Thrombosis researchSVA retrotransposition in exon 6 of the coagulation factor IX gene causing severe hemophilia B.
International journal of hematologyTranslational data from adeno-associated virus-mediated gene therapy of hemophilia B in dogs.
Human gene therapy. Clinical developmentEQOFIX: a combined economic and quality-of-life study of hemophilia B treatments in France.
TransfusionAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Hemofilia B grave.
É de uma associação que acompanha esta doença? Fale com a gente →
Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Hemofilia B grave e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Existe um documento oficial para "Hemofilia A e B". Ele pode não cobrir esta forma específica da doença — confira no texto do protocolo antes de contar com ele.
Ela é causada por alterações genéticas no gene F9, responsável pela produção da proteína fator IX de coagulação. A doença é herdada de forma recessiva ligada ao cromossomo X, atingindo primariamente pessoas do sexo masculino.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
5 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Hemofilia B grave. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/hemofilia-b-grave
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Hemofilia B grave
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Reposicionamento
- fonte: Drug Repurposing Hub
