A Hemofilia A grave é uma forma de Hemofilia A caracterizada por uma grande falta do Fator VIII. Isso leva a sangramentos frequentes sem motivo aparente e também a sangramentos excessivos após pequenos machucados, cirurgias ou ao tirar um dente.
Introdução
O que você precisa saber de cara
A Hemofilia A grave é uma forma de Hemofilia A caracterizada por uma grande falta do Fator VIII. Isso leva a sangramentos frequentes sem motivo aparente e também a sangramentos excessivos após pequenos machucados, cirurgias ou ao tirar um dente.
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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
+ 13 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 27 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 VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa
Secreted, extracellular space
Hemophilia A
A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery.
Medicamentos e terapias
Mecanismo: Coagulation factor IX and X other
Mecanismo: Coagulation factor VIII exogenous protein
Mecanismo: Coagulation factor VIII exogenous protein
Mecanismo: Coagulation factor VIII exogenous protein
Variantes genéticas (ClinVar)
1,066 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
15 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 A grave
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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
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Outros ensaios clínicos
188 ensaios clínicos encontrados, 22 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 784
FIXa-triggered thrombin generation correlates with FVIII levels less than 1% in reconstituted plasma mimicking samples obtained from patients with severe hemophilia A.
More than 10% of severe hemophilia A patients are paradoxically mild bleeders despite factor VIII (FVIII) levels being <1 IU/dl. Quantitation of FVIII levels <1 IU/dl is a challenge due to the detection limits of traditional one-stage activated partial thromboplastin time, two-stage chromogenic assay, and tissue factor-initiated thrombin generation assay (TF-TGA), impeding a precise characterization of the bleeding phenotype in severe hemophilia patients. The study aimed to enhance the sensitivity of TGA by modifying the trigger reagent for FVIII measurement. We optimized the fluorometric quantitation of thrombin generation triggered by factor IXa (FIXa) in artificial reconstituted plasma by blending varying proportions of normal pooled plasma (NPP) and FVIII-immunodepleted plasma containing a normal level of von Willebrand factor. FIXa-initiated thrombin generation depended on FVIII level, while TF could bypass FVIII deficiency to activate thrombin, making TF-TGA incapable of quantifying low levels of FVIII. When triggering with 0.6 nM FIXa, in the presence of 4 μM phospholipids and 40 μg/ml corn trypsin inhibitor, thrombin generation was highly dependent on FVIII levels even below 1 IU/dl. Among the five routinely used TGA parameters, peak thrombin, endogenous thrombin potential, and velocity index demonstrated the strongest linear correlation with FVIII levels down to 0.1 IU/dl. The study evaluated the performance of a modified TGA activated with FIXa. In addition to traditional TF-TGA, FIXa-TGA may provide additional information when assessing the bleeding tendency of patients with severe hemophilia A, facilitating personalized factor replacement therapy.
Monochorionic diamniotic twin brothers with severe hemophilia A: a case report.
Congenital hemophilia A is a recessive inherited hemorrhagic disorder caused by factor VIII (FVIII) deficiency. According to the activity of functional coagulation FVIII, the severity of hemophilia A is divided into three levels: mild, moderate and severe. The characteristic phenotype in hemophilia is the bleeding tendency. Clinical severity depends on the extent of the FVIII deficiency and the first bleeding episode in severe and moderate congenital hemophilia A usually occurs in early childhood. At present, there are few reports on symptomatic severe congenital hemophilia A in the neonatal period. We describe a pair of monozygotic twin brothers with severe hemophilia A. Patient-related factors, including a birth weight discrepancy of 10%, the need for non-invasive respiratory support due to mild respiratory distress, duration of breastfeeding, and vaccinations, were similar in both twins. Anti-hemorrhagic prophylaxis was carried out after birth with IM vitamin K. Due to the presence of prolonged bleeding at the sampling site after performing EGA (Blood Gas Analysis) and neonatal screening, a coagulation test was carried out and a coagulation factor assay (dosage of activity of factors VII, IX, XI, XII) was performed accordingly: activated partial thromboplastin time (APTT) was prolonged without extended prothrombin time (PT). Factor VIII activity was completely absent (0.7%) in both twins. Hematological consultancy was requested and a diagnosis of severe congenital hemophilia A was established. Emicizumab was started as the primary anti-hemorrhagic prophylaxis, with good response and no major bleeding events in the first year of therapy. The coagulation system is not fully developed at birth, complicating clinical decision-making and the correct interpretation of coagulation testing. Targeted coagulation profiling and factor assays are mission-critical for newborns from twin pregnancies when a hematological disorder is suspected. Coagulation factor assays are essential to confirm the diagnosis of hemophilia A. An early diagnosis of hemophilia is crucial for the timely initiation of an appropriate management plan.
Pharmacokinetics of Factor VIII in Adults with Hemophilia: A 24-Hour Single-Sample Study Focused on Trough Levels.
In adults with severe hemophilia A, a streamlined approach to pharmacokinetic (PK) studies, which involves fewer Factor VIII determinations and emphasizes the time needed to achieve specific trough levels, presents an appealing option. To determine the PK profile of Factor VIII using a single measurement taken 24 h after a standard prophylactic regimen. Based on these findings, personalized prophylactic recommendations were established. The study included adults with severe hemophilia A undergoing standard prophylaxis without inhibitors. A single determination of Factor VIII was performed 24 h after the usual administration of the concentrate. PK analysis was conducted using the digital tool WAPPS-Hemo. Key parameters analyzed included maximum concentration (Cmax), area under the curve (AUC), half-life (t½), clearance (Cl), volume of distribution (Vd), trough levels, and the need for dose adjustments. A total of 25 patients were enrolled in the study. The median times to reach trough levels of 5, 2, and 1% were 33, 51, and 59 h, respectively. The median values for Cmax, AUC, t½, Cl, and Vd were 0.70 IU/mL, 7170 mg·h/L, 10 h, 0.37 L/h, and 33 L/kg, respectively. The median Factor VIII level at 24 h was 0.07 IU/mL. Dose adjustments were required for 72% of patients to maintain a 5% trough level, 40% for a 2% trough level, and 36% for a 1% trough level. This approach supports personalized prophylaxis in adults with severe hemophilia A by targeting specific trough levels.
rFVIIIa-platelet binding enhances platelet procoagulant activity independently of thrombin generation.
Platelets play a critical role in hemostasis. In addition to adhesion at the site of injury, phosphatidylserine (PS) exposing platelets (procoagulant) bind activated factor VIII (FVIIIa), facilitating coagulation. Effects of FVIIIa-platelet interactions on platelet activity are unclear. We explored how FVIIIa-platelet interactions affect their transition from a proaggregatory to procoagulant phenotype and how molecular modifications of recombinant FVIII (rFVIII) products might tune this phenotype shift. Platelets were collected from healthy donors and people with severe hemophilia A (HA) and were activated with thrombin and collagen-related peptide. Integrin αIIbβ3 activity and PS exposure were measured as markers of proaggregatory and procoagulant activities, respectively. Platelet phenotypes, rFVIIIa binding, and calcium influx were assessed by flow cytometry and confocal microscopy. rFVIIIa binding potentiated procoagulant activity while having no appreciable effect on percentage of platelets with activated integrin αIIbβ3. Potentiation of procoagulant activity was mediated by a thrombin-independent outside-in signaling cascade but involved integrin αIIbβ3. Similar trends were observed in platelets from healthy donors and patients with HA. A potential role of glycoprotein VI in rFVIIIa-platelet interactions was identified. rFVIIIa products with certain modifications to extend the circulation half-life of FVIII showed reduced binding to proaggregatory platelets compared to nonmodified rFVIIIa. Binding to procoagulant platelets was comparable across rFVIII products, except for rFVIII with site-specific PEGylation, which showed reduced binding. In conclusion, these results offer insights into FVIIIa-platelet interactions, and the potential impact of rFVIII modifications on platelet binding may inform clinical decision-making in HA.
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.
Publicações recentes
Severe Hemophilia A and Congenital Antithrombin Deficiency: A Case of Natural Hemostatic Rebalancing.
Emicizumab prophylaxis in a preterm infant with severe hemophilia A: a case report on the feasibility of early use.
Minimally invasive coronary artery bypass grafting via a left lateral mini-thoracotomy in severe hemophilia A: a case report.
Renal Hemorrhage in Severe Hemophilia A.
Joint Damage Prediction in Non-Severe Hemophilia A with Artificial Intelligence.
📚 EuropePMC779 artigos no totalmostrando 196
ABO blood group-mediated VWF kinetics associated with early phenotypic divergence in dizygotic twins with severe hemophilia A.
Thrombosis researchFIXa-triggered thrombin generation correlates with FVIII levels less than 1% in reconstituted plasma mimicking samples obtained from patients with severe hemophilia A.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisAn analysis of attitudes toward gene therapy in people with severe hemophilia in Germany, a survey-based cross-sectional study.
Therapeutic advances in hematologyMechanisms of thrombin inhibition by protein S and the TFPIα-fVshort-protein S complex.
Biophysical journalIn Vitro Spiking Comparison of Coagulation Potential Between Emicizumab and Mim8 in Whole Blood and Plasma From a Single Patient With Severe Hemophilia A Receiving FVIII Prophylaxis and Warfarin.
Haemophilia : the official journal of the World Federation of HemophiliaTreatment With Valoctocogene Roxaparvovec in a Patient With Severe Hemophilia A Led to Sustained Normal FVIII Levels.
Haemophilia : the official journal of the World Federation of HemophiliaPhase 1 pilot study for hemophilia-A: AAV8 vector with prophylactic tacrolimus-glucocorticoid achieves therapeutic FVIII activity.
Signal transduction and targeted therapyMonochorionic diamniotic twin brothers with severe hemophilia A: a case report.
Frontiers in pediatricsMachine learning estimation of FVIII pharmacokinetic parameters in Chinese children with severe Hemophilia A.
NPJ systems biology and applicationsPharmacokinetics of Factor VIII in Adults with Hemophilia: A 24-Hour Single-Sample Study Focused on Trough Levels.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionGene therapy in the treatment of hemophilia A: a systematic review and meta-analysis.
Expert review of hematologyCorrigendum to 'Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors': [Research and Practice in Thrombosis and Haemostasis Volume 9, Issue 6, August 2025, 103006].
Research and practice in thrombosis and haemostasisFactor VIII in vitro bioequivalence of denecimig (Mim8) hemostatic effect by thrombin generation assays.
Research and practice in thrombosis and haemostasisSevere hemophilia A with inhibitors and pancreatic cancer - when emicizumab is not enough.
Blood transfusion = Trasfusione del sangueFactors contributing to the development of hemophilic arthropathy: A real-world study.
Annals of hematologyrFVIIIa-platelet binding enhances platelet procoagulant activity independently of thrombin generation.
Blood vessels, thrombosis & hemostasisHuman leukocyte antigen alleles associated with inhibitor development in severe hemophilia A: analysis of the "My Life, Our Future" hemophilia A cohort.
Journal of thrombosis and haemostasis : JTHThe MAPTO survey: worldwide approaches on unmasking factor VIII inhibitors in children with emicizumab treatment: communication from the ISTH SSC Subcommittee on Factor VIII, Factor IX and Rare Coagulation Disorders.
Journal of thrombosis and haemostasis : JTHComplex Triple Deformity of the Knee Managed with Knee Arthrodesis in a Severe Hemophilia A Patient: A Case Report.
JBJS case connectorCase Report: Intracranial hemophilic pseudotumor mimicking an aggressive neoplasm: a rare skull-invasive presentation.
Frontiers in surgeryNoncarrier mothers of hemophilia A patients with Intron 22 inversions often have other rearrangements.
Journal of thrombosis and haemostasis : JTHRecurrence of FVIII Inhibitor during Surgery in a Patient with Severe Hemophilia A Receiving Emicizumab Prophylaxis.
Acta medica OkayamaHemophilic pseudotumor in the hand: a case report and literature review.
Skeletal radiologyEight-Week Resistance Training and Manual Therapy in Young Patients with Severe Hemophilia: A Case Series Evaluating Functional, Imaging, and Immunological Outcomes.
Journal of clinical medicineAOZORA study: 3-year interim analysis of safety and joint health in pediatric people with hemophilia A receiving emicizumab prophylaxis.
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.
BloodImpact of Inhibitor Development on the Cost Effectiveness of Prophylactic Treatment with Recombinant Factor VIII in Previously Untreated Patients with Severe Hemophilia A.
PharmacoEconomics - openCase Report of acupotomy release combined with manual release under anesthesia for adhesions after unilateral total knee arthroplasty in a patient with hemophilia A.
Frontiers in surgeryThe impact of individualized prophylactic treatment based on pharmacokinetic parameters on the prognosis of patients with severe hemophilia A.
Expert review of hematologyFRONTIER1 multiple ascending dose extension: a safety, tolerability, pharmacokinetics, and pharmacodynamics study of Mim8 in people with hemophilia A.
Research and practice in thrombosis and haemostasisLarge deletions in the F8 gene predict immune tolerance induction failure in people with severe hemophilia A.
Research and practice in thrombosis and haemostasisFrom pharmacokinetic-guided FVIII prophylaxis to low-dose Emicizumab prophylaxis: a pilot study revealed a flush of hope.
Annals of hematologyEmicizumab in Severe Hemophilia A: Clinical and Patient Determinants of Transition Within a Standardized Program.
Journal of hematologyCost Effectiveness of Efanesoctocog Alfa Versus Factor VIII Extended Half-Life in Adolescent and Adult Patients with Hemophilia A in the USA.
PharmacoEconomicsDeleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.
Research and practice in thrombosis and haemostasisSilent Avascular Necrosis of the Femoral Head in Severe Hemophilia A: A Case Report.
CureusMHC class II presentation of FVIII-AnnexinA5 fusion proteins internalized by antigen presenting cells.
Frontiers in immunologyEmicizumab utilization, safety, and outcomes in people with severe hemophilia and no inhibitors: 3-year follow-up. A report from the UK Haemophilia Centre Doctors' Organisation.
Research and practice in thrombosis and haemostasisLong-Term Joint Function and Quality of Life Following Emicizumab Prophylaxis in Severe Hemophilia A: A Single-Center Study From Goa, India.
CureusTertiary prophylaxis with extended half-life factor prophylaxis: a model to reduce disability in low- and middle-income countries.
International journal of hematologyEstimated Long-Term Durability of Valoctocogene Roxaparvovec Treatment in Male patients with Severe Hemophilia A: An Extrapolation of Clinical Data.
Advances in therapyComparative Effectiveness of Valoctocogene Roxaparvovec and Efanesoctocog Alfa in the Treatment of Severe Hemophilia A: A Matching-Adjusted Indirect Comparison of Bleeding Frequency.
Advances in therapyInhibitor development and clinical characteristics in children with severe hemophilia A in the ATHN 8 US cohort study.
Blood vessels, thrombosis & hemostasisFactor VIII Pharmacokinetics in Mexican Patients with Hemophilia A.
Archives of medical researchLong-Term Anticoagulation in a Severe Hemophilia A Patient Receiving Efanesoctocog Alpha Prophylaxis: A Case Report.
Seminars in thrombosis and hemostasisImpact 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 reviewsSignificant Bleeding Event Secondary To Maxillary Labial Frenectomy.
Journal of dentistry for children (Chicago, Ill.)Application of capillary gel electrophoresis in detection of Factor VIII gene intron 22 inversion of hemophilia A.
Journal of hematopathologyRisk factors for joint bleeding in severe hemophilia A and B: analysis of the Community Counts longitudinal surveillance cohort.
Blood vessels, thrombosis & hemostasisThe role of interleukin-10 gene variants in inhibitor development in hemophilia: A meta-analysis.
Thrombosis researchAssessment 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 PathologyEmicizumab for preventing intracranial hemorrhage in infants with severe hemophilia A: a cost-effectiveness analysis.
Blood advancesExploring the Relationship Between Personalization of Care and Participation in Sport Activities Among People with Severe Hemophilia A Across Europe: Post Hoc Analysis of the CHESS II Study.
Journal of blood medicineRegional brain volumes and their relationship to neurocognitive outcomes in children with severe hemophilia A.
Blood vessels, thrombosis & hemostasisProgressive cephalohematoma in a neonate revealing severe hemophilia a owing to intron 22 inversion: a case report.
Frontiers in pediatricsPredictors of immune tolerance induction success in 231 children with severe hemophilia A with high-titer inhibitors - lessons learned from the PedNet prospective cohort study.
Journal of thrombosis and haemostasis : JTHPost hoc analysis of bleeding episodes and clinically relevant pharmacokinetic parameters among children <12 years old with severe hemophilia A receiving once-weekly efanesoctocog alfa prophylaxis in the XTEND-Kids phase 3 multinational trial.
Journal of thrombosis and haemostasis : JTHThe interleukin-33 receptor (ST2) is a novel therapeutic target to attenuate the progression of hemophilic arthropathy.
BloodImpact of the Individualized 4-Year Physiotherapy on the Musculoskeletal System and Quality of Life of Patients With Severe Hemophilia A With Inhibitors.
Haemophilia : the official journal of the World Federation of HemophiliaSilent progression of hemophilic arthropathy of the elbow: case reports of three pediatric patients.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisComparison of Magnetic Resonance Imaging Scales for Assessment of Interval Changes of Arthropathy in Boys with Severe Hemophilia.
Journal of clinical medicineHospitalization for child physical abuse before hospitalization for osteogenesis imperfecta or severe hemophilia: A nationwide cohort study in France.
Child abuse & neglectMarstacimab prophylaxis in hemophilia A/B without inhibitors: results from the phase 3 BASIS trial.
BloodRapid Maxilla Expansion Technique in Patients With Severe Hemophilia Type A: Treatment Protocol.
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 DentistrySafety and efficacy of marstacimab in patients with hemophilia A and B: a systematic review and meta-analysis.
Expert review of hematologyFirst-in-human pharmacokinetic, safety, and preliminary efficacy studies of single- and multiple-dose FRSW117, a novel PEGylated recombinant factor VIII-Fc fusion protein with an extended half-life, in patients with severe hemophilia A.
HaematologicaRecombinant Adeno-Associated Virus Integration Profiles in Nonhuman Primates and Gene Therapy Participants after Treatment with Valoctocogene Roxaparvovec.
Human gene therapyA repeated time-to-event model for personalized treatment of patients with hemophilia A based on individual bleeding risk.
Journal of thrombosis and haemostasis : JTHLife-Threatening Pharyngolaryngeal Hematoma in a Patient With Hemophilia A.
CureusReal-World Evidence on Joint Condition in Non-Severe Hemophilia A Patients: A Multicenter Study.
Journal of blood medicineAnchoring the Hemophilia Joint Health Score for Conventional Value Assessment in the Care of People Living with Severe Hemophilia A.
PharmacoEconomicsSingle-cell sequencing on PBMCs from patients with HA and HB with inhibitors reveals different immune responses to FVIII and FIX.
Blood advancesIn vitro effects of Mim8 and combined Mim8-bypassing therapy on thrombin generation, thromboelastography and fibrin clot ultrastructure.
Thrombosis researchPrevalence and Clinical Correlation of Intron 22 Inversion in Hemophilia A in Northeast India.
CureusHematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia A: a case report and review of the literature.
Research and practice in thrombosis and haemostasisGeneration of a Severe Hemophilia A Humanized Mouse Model Capable of Inducing an Anti-FVIII Immune Response.
Thrombosis and haemostasisSummary for Patients: Prophylactic Weekly Efanesoctocog Alfa Versus Standard-Care Factor VIII in People Living With Severe Hemophilia A.
Annals of internal medicineProphylactic Weekly Efanesoctocog Alfa Versus Standard-Care Factor VIII in People Living With Severe Hemophilia A : A Cost-Effectiveness Analysis.
Annals of internal medicineEx vivo lentiviral gene therapy for severe hemophilia A: an alternative to recombinant adeno-associated viral-based strategies?
Research and practice in thrombosis and haemostasisReal-world bleeding rates on emicizumab: the value of using nationwide digital treatment diary data in clinical research.
Research and practice in thrombosis and haemostasisQuality of life of children and adolescents with hemophilia receiving low-dose prophylactic treatment.
International journal of hematologyGlobal estimation of the bleeding episodes treatable with desmopressin in von Willebrand disease and hemophilia A.
HaematologicaAn Observational Study of Glycopegylated Extended Half-Life Factor Prophylaxis in Hemophilia A and B in a Tertiary Care Center in India.
CureusAnnualized bleeding rate in hemophilia A patients in Brazil: a systematic review.
Hematology, transfusion and cell therapyBlood Group O Does Not Increase the Risk of Inhibitors in Severe Haemophilia A: Data from the PedNet Study Group.
Haemophilia : the official journal of the World Federation of HemophiliaEfanesoctocog Alfa Population Pharmacokinetics and Repeated Time-To-Event Analysis of Bleeds in Adults, Adolescents, and Children with Severe Hemophilia A.
Journal of clinical pharmacologyEarly diagnosis and prophylactic treatment with emicizumab in premature infants with severe hemophilia A.
Pediatrics and neonatologyA comparison of My Precise Dose and WAPPS-Hemo as dosing tools for optimizing prophylaxis in children with hemophilia A treated with BAY 81-8973.
Thrombosis researchComparative Efficacy of Recombinant FVIII and Recombinant FVII Biosimilars in Severe Hemophilia A.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis[Application value of thromboelastography in assessing coagulation function in children with severe hemophilia A after emicizumab therapy: a single-center study].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsA plain language summary on indirectly comparing bleeding after valoctocogene roxaparvovec gene therapy to bleeding with emicizumab prophylaxis.
Expert review of hematologyCorticosteroid use to mitigate transaminitis-associated decline in FVIII levels following valoctocogene roxaparvovec gene therapy: clinical practice guidance.
Journal of thrombosis and haemostasis : JTHRegulation of immune responses to therapeutic factor VIII by transplacental delivery of Fc-fused immunodominant factor VIII domains or peptides.
HaematologicaSafety and efficacy of a fitusiran antithrombin-based dose regimen in people with hemophilia A or B: the ATLAS-OLE study.
BloodBleeding 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 HemophiliaTreatment of Bleeding Episodes With Efanesoctocog Alfa in Previously Treated Patients With Severe Hemophilia A in the Phase 3 XTEND-1 Study.
American journal of hematologyImmune tolerance induction for inhibitor eradication in nonsevere hemophilia A: a case series.
Research and practice in thrombosis and haemostasisA 5-Year Single-center Experience on the Use of Emicizumab Prophylaxis in Children With Severe Hemophilia A With and Without Factor VIII Inhibitors.
Journal of pediatric hematology/oncologyIntermediate-dose immune tolerance induction outperforms with faster success, less bleeding, and no added cost in comparison with low dose: a multicenter randomized clinical trial.
Research and practice in thrombosis and haemostasisTolerance to factor VIII in the era of nonfactor therapies: immunologic perspectives and a systematic review of the literature.
Journal of thrombosis and haemostasis : JTHSafety and efficacy of valoctocogene roxaparvovec with prophylactic glucocorticoids: 1-year results from the phase 3b, single-arm, open-label GENEr8-3 study.
Journal of thrombosis and haemostasis : JTHSurgical Excision of a Hemophilic Pseudotumor Causing Vascular Impingement in a Patient with Severe Hemophilia A: A Case Report.
Revista brasileira de ortopediaEvaluation 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.
DrugsOutcomes and management of invasive procedures in participants with hemophilia A post gene therapy: a post hoc analysis of the GENEr8-1 phase III trial.
Therapeutic advances in hematologyEx vivo evaluation of the effect of plasma-derived factor VIII/von Willebrand factor in patients with severe hemophilia A on emicizumab prophylaxis.
Clinical and experimental medicineDental 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 DentistryEfficacy, safety, and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia A in the phase 3 GENEr8-1 trial.
Research and practice in thrombosis and haemostasisLentiviral Gene Therapy with CD34+ Hematopoietic Cells for Hemophilia A.
The New England journal of medicineInhibitor development upon switching from plasma-derived to recombinant factor VIII in previously untreated patients with severe hemophilia A: the PUP-SWITCH study.
Research and practice in thrombosis and haemostasisLong-term safety and efficacy of fitusiran prophylaxis, and perioperative management, in people with hemophilia A or B.
Blood advancesA clot waveform analysis-based system for differential diagnosis of prolonged activated partial thromboplastin time in plasma samples.
International journal of hematologyDesign of an international, phase IV, open-label study of simoctocog alfa in women/girls with hemophilia A undergoing surgery (NuDIMENSION).
Therapeutic advances in hematologyCombined adductor canal (ACB) and sacral erector spinae plane (S-ESP) blocks for total knee arthroplasty pain in hemophilic arthropathy.
Saudi journal of anaesthesiaNeonatal Presentation of Severe Hemophilia A: An Original Case Report and a Literature Review.
Children (Basel, Switzerland)Prediction of the chance of successful immune tolerance induction in persons with severe hemophilia A and inhibitors: a clinical prediction model.
Research and practice in thrombosis and haemostasisCombination of bolus and continuous infusion of factor VIII in a patient with severe hemophilia A undergoing on-pump coronary artery bypass graft surgery.
Clinical case reportsFreedom From Bleeds With Low-Dose Emicizumab Prophylaxis in Inhibitor-Positive Hemophilia A.
Journal of hematologyDevelopment and internal validation of a clinical prediction model for individualized dosing of BAY 81-8973, A full-length recombinant factor VIII, in pediatric patients with haemophilia A.
Thrombosis research[Pharmacokinetic Study of Coagulation Factor Ⅷ in Adults with Severe Hemophilia A].
Zhongguo shi yan xue ye xue za zhiFactor X consumption attenuates the coagulation effect of emicizumab: a case of severe hemophilia A treated with emicizumab and factor VIII-bypassing agents.
International journal of hematologyInverse Shifting-PCR Modified by Capillary Electrophoresis for Detecting F8 int22h and int1h Inversions in Severe Hemophilia A Patients and Probable Carriers.
Life (Basel, Switzerland)Saliva of persons with hemophilia A triggers coagulation via extrinsic tenase complexes.
BloodReal-world experience of emicizumab prophylaxis in Korean children with severe hemophilia A without inhibitors.
Blood researchCost-effectiveness Analysis of Prophylaxis Versus On-demand Treatment for Children With Moderate or Severe Hemophilia A in China.
Clinical therapeuticsPatient Experience With Efanesoctocog Alfa for Severe Hemophilia A: Results From the XTEND-1 Phase 3 Clinical Study Exit Interviews.
Clinical therapeuticsA Novel Murine Model Enabling rAAV8-PC Gene Therapy for Severe Protein C Deficiency.
International journal of molecular sciencesSevere Hemophilic Arthropathy of the Knee: MRI Has Its Place.
Global pediatric healthCHIEF: A retrospective self-control study of children with severe hemophilia A without inhibitors comparing emicizumab to FVIII prophylaxis.
Pediatric blood & cancerEmicizumab in Children with Severe Hemophilia A.
Indian journal of pediatricsRelationship between mutations in severe hemophilia A and risk of inhibitor development: A large single-center study.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisPharmacokinetics of Efmoroctocog alfa by Two-Compartment Model Highlights Hemophilia A Patients with Biphasic Decay, Long Mean Residence Time, and Beta Half-Life.
Journal of clinical medicineSwitching hemophilia A patients to rVIII-SingleChain: The Iberian experience.
MedicineLack of factor VIII detection in humans and dogs with an intron 22 inversion challenges hypothesis regarding inhibitor risk.
Journal of thrombosis and haemostasis : JTHComprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.
Life (Basel, Switzerland)Patient and Caregiver Preferences for Hemophilia A Treatment in Taiwan: A Discrete Choice Experiment.
Value in health regional issuesEvaluation of FVIII pharmacokinetic profiles in Korean hemophilia A patients assessed with myPKFiT: a retrospective chart review.
Blood researchIntegrating musculoskeletal ultrasound as a shared decision-making tool in hemophilia care: observations from a 3-year study.
Research and practice in thrombosis and haemostasisLarge deletions and small insertions and deletions in the factor VIII gene predict unfavorable immune tolerance induction outcome in people with severe hemophilia A and high-responding inhibitors.
Thrombosis researchPeripheral Blood Lymphocyte Subsets in Factor VIII Inhibitor-Positive Patients with Severe Hemophilia A: A Case-Control Study.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisThe longitudinal kinetics of AAV5 vector integration profiles and evaluation of clonal expansion in mice.
Molecular therapy. Methods & clinical development[Long-term health-related quality of life and related factors in children with severe hemophilia A who received regular low-dose prophylaxiss].
Zhonghua yi xue za zhiAn Inhibitory Single-Domain Antibody against Protein Z-Dependent Protease Inhibitor Promotes Thrombin Generation in Severe Hemophilia A and FXI Deficiency.
Thrombosis and haemostasisInternational Society on Thrombosis and Haemostasis clinical practice guideline for treatment of congenital hemophilia A and B based on the Grading of Recommendations Assessment, Development, and Evaluation methodology.
Journal of thrombosis and haemostasis : JTHInhibitor 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 haemostasisBlood biodistribution and vector shedding of valoctocogene roxaparvovec in people with severe hemophilia A.
Blood advancesEfanesoctocog Alfa Prophylaxis for Children with Severe Hemophilia A.
The New England journal of medicineAdult People with Hemophilia A Have Low Annualized Bleeding Rate, However the Arthropathy Remains a Burden: A Retrospective Cohort Study.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionKinetic Modeling for BT200 to Predict the Level of Plasma-Derived Coagulation Factor VIII in Humans.
The AAPS journalCOVID-19 in the Setting of HIV and Severe Hemophilia A: A Case Report.
HCA healthcare journal of medicineLow-dose immune tolerance induction for severe hemophilia A inhibitor patients: Immunosuppressants are generally not necessary for inhibitor-titer below 200 BU/mL.
Pediatric investigationPhysical Activity, Bleedings and Quality of Life in Subjects with Haemophilia A without Inhibitors-A Multicenter, Observational Italian Study with a Wearable Device.
Journal of clinical medicine[Minimally invasive treatment of varicose veins of lower extremities in a patient with hemophilia A (case report)].
Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgeryOptimizing liver health before and after gene therapy for hemophilia A.
Blood advancesWalking ability in adults with severe hemophilia: A cross-sectional study.
Clinical hematology internationalPrediction of inhibitor development in previously untreated and minimally treated children with severe and moderately severe hemophilia A using a machine-learning network.
Journal of thrombosis and haemostasis : JTHClinical immunogenicity outcomes from GENEr8-1, a phase 3 study of valoctocogene roxaparvovec, an AAV5-vectored gene therapy for hemophilia A.
Molecular therapy : the journal of the American Society of Gene TherapyPractical challenges associated with efanesoctocog alfa (ALTUVIIIO) prophylaxis in a 19-month-old male with severe hemophilia A.
Pediatric blood & cancerSimoctocog alfa (Nuwiq®) in children: early steps in life's journey for people with severe hemophilia A.
Therapeutic advances in hematologyManagement of traumatic dental injuries in a hemophiliac patient: A challenge! Case report with nine years follow-up.
Journal of family medicine and primary careEconomic and Humanistic Burden of Moderate and Severe Hemophilia A and B in Spain: Real-World Evidence Insights from the CHESS II Study.
Journal of health economics and outcomes researchBlood pressure responses to handgrip exercise but not apnea or mental stress are enhanced in women with a recent history of preeclampsia.
American journal of physiology. Heart and circulatory physiologyIncidence of deep venous thrombosis in patients with hemophilia undergoing bilateral simultaneous total knee arthroplasty: a retrospective cohort study.
BMC musculoskeletal disordersTransplacental transfer of emicizumab: Experience with emicizumab in a pregnant female with severe hemophilia A and an inhibitor.
Haemophilia : the official journal of the World Federation of HemophiliaAbnormal frequency of the memory B cell subsets and plasmablasts in patients with congenital severe hemophilia A: correlation with "Inhibitor" formation.
Blood researchComparative Effectiveness of Valoctocogene Roxaparvovec and Prophylactic Factor VIII Replacement in Severe Hemophilia A.
Advances in therapyThree-year outcomes of valoctocogene roxaparvovec gene therapy for hemophilia A.
Journal of thrombosis and haemostasis : JTHAssessment of jaw bone mineral density, resorption rates, and oral health in patients with severe hemophilia: a case-control study.
Acta odontologica ScandinavicaMulticenter evaluation of the hemostatic activity of emicizumab in patients with severe hemophilia A.
Journal of thrombosis and haemostasis : JTHEvaluation of an e-Learning Program for Community Pharmacists for Dispensing Emicizumab (Hemlibra) in France: Nationwide Cross-Sectional Study.
JMIR formative researchImmunogenicity profile of rurioctocog alfa pegol in previously treated patients with severe congenital hemophilia A.
Blood advancesProphylactic Treatment of Children with Hemophilia in Sweden.
Seminars in thrombosis and hemostasisWhole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A.
Journal of thrombosis and haemostasis : JTHEmicizumab promotes factor Xa generation on endothelial cells.
Journal of thrombosis and haemostasis : JTHComprehensive domain-specific analysis and immunoglobulin G profiling of anti-factor VIII antibodies using a bead-based multiplex immunoassay.
Journal of thrombosis and haemostasis : JTHVector integration and fate in the hemophilia dog liver multiple years after AAV-FVIII gene transfer.
Blood[Successful immunosuppressive therapy in female hemophilia A developing inhibitor after perioperative administration of factor VIII products].
[Rinsho ketsueki] The Japanese journal of clinical hematologyEpidemiological profile of hemophilia A in Karbala-Iraq.
Journal of medicine and lifeEffectiveness of emicizumab in preventing bleeding events in severe and moderate hemophilia A: A single-center experience in Bangladesh.
EJHaem[Removal of a dermoid cyst of the floor of the mouth in a patient with severe hemophilia A].
StomatologiiaThe effectiveness and safety of octocog alfa in patients with hemophilia A: up to 7-year follow-up of the real-world AHEAD international study.
Therapeutic advances in hematologyPharmacokinetic-Pharmacodynamic Modelling in Hemophilia A: Relating Thrombin and Plasmin Generation to Factor VIII Activity After Administration of a VWF/FVIII Concentrate.
European journal of drug metabolism and pharmacokineticsConcomitant large deletion and de novo duplication of factor VIII gene in an Indian patient with severe Hemophilia A.
Annals of hematologyThe influence of dead space in blood sampling needle on FVIII level and pharmacokinetic profiles in children with hemophilia.
Hematology (Amsterdam, Netherlands)A Response to: Letter to the Editor Regarding "Cost-Effectiveness Analysis of Pharmacokinetic-Guided Prophylaxis Versus Standard Prophylaxis in Adults with Severe Hemophilia A in China".
Advances in therapyImmune tolerance promotion by LSEC-specific lentiviral vector-mediated expression of the transgene regulated by the stabilin-2 promoter.
Molecular therapy. Nucleic acidsComparison Pharmacokinetic Dosing Tools in Hemophilia A Children.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionMutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionA post hoc analysis of previously untreated patients with severe hemophilia A who developed inhibitors in the PUPs A-LONG trial.
Blood advancesShifting Paradigms and Arising Concerns in Severe Hemophilia A Treatment.
Seminars in thrombosis and hemostasisDeterminants of bleeding before and during immune tolerance in 222 boys with severe hemophilia A and inhibitors >5 BU.
Blood advancesRace, ethnicity, and immune tolerance induction in hemophilia A in the United States.
Research and practice in thrombosis and haemostasisInhibitor development according to concentrate in severe hemophilia: reporting on 1392 Previously Untreated Patients from Europe and Canada.
Research and practice in thrombosis and haemostasisSuccessful Ultrasound-Guided Spinal Anesthesia in a Patient With Severe Hemophilia A Undergoing Total Hip Arthroplasty.
Journal of hematologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Associação brasileira dedicada a Hemofilia.
Associação brasileira dedicada a Hemofilia.
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Hemofilia A grave
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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.
- FIXa-triggered thrombin generation correlates with FVIII levels less than 1% in reconstituted plasma mimicking samples obtained from patients with severe hemophilia A.Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis· 2026· PMID 41846404mais citado
- Monochorionic diamniotic twin brothers with severe hemophilia A: a case report.
- Pharmacokinetics of Factor VIII in Adults with Hemophilia: A 24-Hour Single-Sample Study Focused on Trough Levels.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41728157mais citado
- rFVIIIa-platelet binding enhances platelet procoagulant activity independently of thrombin generation.
- Efficacy and safety of marstacimab prophylaxis in hemophilia A/B with inhibitors: results from the phase 3 BASIS trial.
- Severe Hemophilia A and Congenital Antithrombin Deficiency: A Case of Natural Hemostatic Rebalancing.
- Emicizumab prophylaxis in a preterm infant with severe hemophilia A: a case report on the feasibility of early use.
- Minimally invasive coronary artery bypass grafting via a left lateral mini-thoracotomy in severe hemophilia A: a case report.
- Renal Hemorrhage in Severe Hemophilia A.
- Joint Damage Prediction in Non-Severe Hemophilia A with Artificial Intelligence.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:169802(Orphanet)
- MONDO:0015719(MONDO)
- Hemofilia Hereditaria(PCDT · Ministério da Saúde)
- GARD:17059(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55785669(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
