É o tipo mais comum de hemofilia, que causa sangramentos que surgem sem motivo aparente ou que demoram muito para parar, por causa da falta do Fator VIII.
Introdução
O que você precisa saber de cara
É o tipo mais comum de hemofilia, que causa sangramentos que surgem sem motivo aparente ou que demoram muito para parar, por causa da falta do Fator VIII.
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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
+ 22 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 51 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 VIII exogenous protein
Mecanismo: Coagulation factor IX and X other
Mecanismo: Coagulation factor VIII exogenous protein
Mecanismo: Coagulation factor VIII exogenous protein
Mecanismo: Coagulation factor VII exogenous protein
Mecanismo: Plasminogen inhibitor
Mecanismo: Coagulation factor VIII exogenous protein
Mecanismo: Coagulation factor VII 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 5 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
Selecione um estado ou use sua localização para ver resultados.
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
839 ensaios clínicos encontrados, 35 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 3.730
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.
Deleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.
NKAP (NF-kappa-B-activating protein) is a ubiquitously expressed nuclear protein involved in multiple biological processes. Males with missense NKAP mutations have been reported to present with marfanoid features and behavioral and musculoskeletal abnormalities. We have previously reported that a disruptive NKAP mutation resulted in extremely skewed X chromosome inactivation (XCI), leading to phenotypic manifestation of hemophilia A (HA) in a HA carrier. In this study, with the aim of exploring the phenotypic manifestations of deleterious NKAP mutations in males, as well as their involvement in the mechanism of XCI regulation in females, we generated NKAP mutant mice using CRISPR/Cas9 technology. Gait analysis studies conducted in male mice hemizygous for mutant NKAP by the CatWalk XT system revealed significant alterations in gait parameters, consistent with hypotonia reported in human mutant NKAP patients. By breeding mutant NKAP mice with HA mice, we generated a double heterozygous mutant NKAP/HA mouse model, i.e., female mice carrying mutant NKAP with a WT F8 copy on one X chromosome, and WT NKAP with a mutant F8 copy on the other X chromosome. XCI pattern analysis using methylation-sensitive restriction enzymes demonstrated that mutant NKAP/HA females exhibited significant XCI skewing of the X chromosome bearing the mutant NKAP copy. Furthermore, these females exhibited significantly reduced F8 mRNA levels and FVIII (factor VIII) antigen levels, as demonstrated by quantitative RT-PCR and ELISA, respectively. Murine embryonic fibroblasts (MEFs) derived from a hemizygous mutant NKAP embryo exhibited markedly reduced proliferation rate and increased senescence compared to WT NKAP MEFs, suggesting that XCI skewing induced by mutant NKAP results from secondary selection against cells with an active X chromosome bearing the mutant NKAP copy.
Genotype-Specific Postural Control Deficits in Hemophilia A: Insights from Center of Pressure Analysis Beyond Radiographic Arthropathy.
Hemophilia is an X-linked inherited bleeding disorder characterized by joint hemorrhages and progressive arthropathy. While mutation type is known to influence disease severity, its impact on postural balance strategies has remained unclear. This cross-sectional study investigated the relationship between gene mutation type and postural control in hemophilia A patient using center of pressure (CoP) analysis and radiographic joint assessment with the Pettersson score. Thirty-five participants were divided into an INV group (intron 22 or intron 1 inversion of the F8 gene) and a NonINV group (other mutations). While the Pettersson scores and traditional time-domain CoP parameters (sway area, velocity) were comparable between groups, frequency domain analysis revealed a significant difference. INV group exhibited significantly higher energy content above 2 Hz in the anteroposterior direction compared to NonINV group. This genotype-specific spectral signature emerged despite comparable radiographic arthropathy and conventional CoP metrics, suggesting that frequency-domain CoP analysis can uncover subclinical postural adaptations in hemophilia A. These findings highlight the need for targeted proprioceptive training in this specific subpopulation to prevent subclinical instability and potential falls.
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.
A combinatorial CAAR-T cell strategy to eliminate factor VIII inhibitors in preclinical models of hemophilia A.
Chimeric autoantibody receptor T (CAAR-T) cell therapy extends CAR-T technology to target autoreactive immune cells, offering a novel approach for treating autoimmune disorders. In hemophilia A, the development of anti-factor VIII (FVIII) inhibitors poses a major clinical challenge. This study investigates the therapeutic potential of CAAR-T cells engineered with FVIII C1 or A2 domains to eliminate inhibitor-producing B cells. In vitro cytotoxicity assays confirmed that C1 and A2 CAAR-T cells exhibited comparable killing efficiency against their respective targets. In an F8KO hemophilia A mouse model, both CAAR-T cells significantly reduced circulating FVIII inhibitors, while their combination further suppressed inhibitor re-emergence after FVIII rechallenge. In a humanized NCG mouse model, combined CAAR-T therapy effectively inhibited in vivo target cell expansion. These findings demonstrate that CAAR-T therapy, particularly the combinatorial approach, holds promise for addressing FVIII inhibitor formation in hemophilia A, offering a targeted and effective treatment strategy.
Publicações recentes
Acquired Hemophilia A During Prasugrel Therapy After Recurrent Acute Coronary Syndrome.
🥈 ObservacionalFVIIIa Mimetics: New Approaches and Next-Generation Initiatives.
🥉 Relato de casoA Jehovah's Witness with Acquired Hemophilia A Who Successfully Avoided Blood Transfusions by Receiving Emicizumab.
Severe Hemophilia A and Congenital Antithrombin Deficiency: A Case of Natural Hemostatic Rebalancing.
🥉 Relato de casoThe Prevalence of Coagulation Factor Deficiency Among Pediatric Populations in Medina City, Saudi Arabia.
📚 EuropePMC10.797 artigos no totalmostrando 198
Hemorrhagic Shock and Massive Abdominal Wall Hematoma After Cesarean Section in a Patient with Peripartum Acquired Hemophilia A:A Case Report.
International journal of women's healthEstimating the Impact of Hemophilia A Treatment Administration on Patient Health Utility: Combining a Discrete Choice Experiment with Time Trade-Off Method.
Advances in therapyClinical Experience with Emicizumab and Rituximab as First-Line Treatment in a Case Series of Acquired Hemophilia A.
Hematology reportsNon-clotting factor therapies for preventing bleeds in people with congenital hemophilia A or B.
The Cochrane database of systematic reviewsPostpartum Acquired Hemophilia A in Two Women With Previously Undiagnosed Carrier Status for von Willebrand Disease Type 2N and Heterozygous p.R854Q Mutation.
Haemophilia : the official journal of the World Federation of HemophiliaCase Report: Differential diagnosis and clinical management of isolated prolonged activated partial thromboplastin time.
Frontiers in immunologyABO blood group-mediated VWF kinetics associated with early phenotypic divergence in dizygotic twins with severe hemophilia A.
Thrombosis researchInvestigation of kinesiophobia, physical activity, quality of life, depression and anxiety level in adult people with hemophilia: A frequency-matched case-control study.
Journal of back and musculoskeletal rehabilitationIn Vitro Stability Study Supports the Use of Efmoroctocog Alfa and Rurioctocog Alfa Pegol for Continuous Infusion in Hemophilia A.
Seminars in thrombosis and hemostasisFIXa-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 thrombosisDelayed diagnosis of acquired hemophilia a complicating hepatocellular carcinoma: a rare case of hepatectomy following atezolizumab and bevacizumab therapy.
Clinical journal of gastroenterologyAcute recurrent appendicitis in a hemophiliac Nepalese girl: beyond just… avoidance of formidable cuts! - A case report.
International journal of surgery case reportsNew 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 hematologyDeleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.
International journal of molecular sciencesGenotype-Specific Postural Control Deficits in Hemophilia A: Insights from Center of Pressure Analysis Beyond Radiographic Arthropathy.
International journal of molecular sciencesPsychosocial Outcomes and Quality of Life in Patients with Hemophilia a Without Inhibitors: The HemoLIFE Study.
Journal of clinical medicineBleeding rates, healthcare utilization, and costs among patients with hemophilia a without inhibitors treated with concomitant octocog alfa or extended half-life factor VIII while on emicizumab prophylaxis.
Journal of medical economicsMechanisms 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 HemophiliaPersons with high Hemophilia Joint Health Scores have reduced functional range of motion during simulated sports activities.
Research and practice in thrombosis and haemostasis[Acquired hemophilia A secondary to marginal zone lymphoma].
Revue medicale de LiegePhase 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 pediatricsComprehensive 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 DentistrySubclinical Cardiac Diseases and the Role of Extracellular Vesicles in Patients with Hemophilia A Treated on-Demand.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisA Case of Acquired Hemophilia A Following Robot-Assisted Minimally Invasive Esophagectomy.
Surgical case reportsA combinatorial CAAR-T cell strategy to eliminate factor VIII inhibitors in preclinical models of hemophilia A.
iScienceEnhanced 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 : JTHDevelopment of a Novel Hemophilia A Mouse Model to Study Emicizumab and Factor VIII Inhibitor Risk.
Blood advancesKinesiophobia in Parents of Children with Haemophilia.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPDiscrepancies of results for post infusion levels of extended half-life factor VIII/IX concentrates - a cause of concern, awaiting for solution.
Clinical chemistry and laboratory medicineComparative 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 medicineCOVID-19-Associated Acquired Hemophilia A With an Exceptionally High Inhibitor Titer: A Case of Remission and Overwhelming Sepsis.
CureusImmune Response Associated Hepatotoxicity in Hemophilia Gene Therapy: Mechanisms, Management, and Challenges.
Journal of hematologyEmicizumab in the treatment of acquired hemophilia A: A Two-Center experience.
Annals of hematologyMachine learning estimation of FVIII pharmacokinetic parameters in Chinese children with severe Hemophilia A.
NPJ systems biology and applicationsIs marstacimab the next step in personalized and effective haemophilia management?
Expert review of clinical pharmacologyAssociation of Patient-Reported Outcomes with Hemophilia A Inhibitor Status and Treatment Product Type.
Journal of clinical medicineManaging 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 journalPathogen-Reduce Cryoprecipitate: An Overview of Method(s) in Pathogen Reduction, Transfusion-Transmitted Infection Risk, and Inventory Management Considerations.
Clinics in laboratory medicineUnderstanding Treatment Care and Delays in Acquired Hemophilia A: A Population-Based Study From Nova Scotia, Canada.
EJHaemFactor-VIII mimetic bispecific antibodies for the treatment of hemophilia A: an update.
Expert review of clinical pharmacologyHealth 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 TransfusionPharmacokinetics 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 TransfusionExercise Programmes for People With Haemophilia: A Scoping Review.
Haemophilia : the official journal of the World Federation of HemophiliaGTH 2026: Connected Science - Advanced Solutions.
HamostaseologieA Multifactorial Case of Acquired Hemophilia A.
CureusGene 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 haemostasisThrombin Generation Assays: Possibilities and Limitations.
HamostaseologieImmune Response Mechanisms in Haemophilia A.
HamostaseologieGene Therapy of Haemophilia: Current Status and Future Directions.
HamostaseologieSevere hemophilia A with inhibitors and pancreatic cancer - when emicizumab is not enough.
Blood transfusion = Trasfusione del sangueTwelve-month follow-up of a real-world, noninterventional study evaluating the impact of emicizumab on bleeding episodes, joint health, and quality of life in people with hemophilia A.
Therapeutic advances in hematologyA chemiluminescent microfluidic thrombin generation assay for real-time monitoring in patient plasma.
Journal of thrombosis and haemostasis : JTHMLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.
Journal of translational medicineCountry-level prediction of blood type distribution in hemophilia A in support of factor VIII consumption.
Research and practice in thrombosis and haemostasisChallenges in Balancing Hemostasis and Thrombosis in Therapy Tailoring for Hemophilia: A Narrative Review.
International journal of molecular sciencesEnhancing Hemophilia A Care Through Home-Based Prophylaxis: Real-World Outcomes of a National Patient Support Program in Mexico.
Journal of clinical medicinePostpartum acquired hemophilia presenting as compartment syndrome: a diagnostic challenge in the emergency department.
International journal of emergency medicineIntegrative modeling to improve bleeding risk prediction in adult female hemophilia A carriers.
Journal of thrombosis and haemostasis : JTHA Revised Classification of FVIII Concentrates: Rationale and Novel Metrics.
Blood advancesFVIII-containing platelets modulate immune responses and attenuate inhibitor development in hemophilia A mice.
HaematologicaImpact of prophylaxis, inhibitors, and genetics on joint outcomes according to the IPSG-MRI score in hemophilia A, B and vWD type 3.
Frontiers in medicineClinical Spectrum, Subtype Distribution, and Treatment Outcomes in von Willebrand Disease: A Prospective Study from a Hemophilia Treatment Center in Pakistan.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisMutations of six amino acid residues in a B domain-deleted blood coagulation factor VIII have a cumulative effect on increasing its secretion.
Research and practice in thrombosis and haemostasisTNF‑α Gene Polymorphisms as Determinants of Alloantibody Emergence in Hemophilia: A Systematic Review and Meta-Analysis.
Haemophilia : the official journal of the World Federation of HemophiliaFactors contributing to the development of hemophilic arthropathy: A real-world study.
Annals of hematologyA 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 : JTHMonitoring the Hemostatic Balance: measuring thrombin generation in a patient with acquired hemophilia A on combined pro- and anticoagulant therapy.
Thrombosis researchrFVIIIa-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 : JTHNXTAGE: a phase 1/2 study of NXT007 to assess safety, pharmacokinetics, and efficacy in hemophilia A without inhibitors.
BloodA specific FX activator for bleeding treatment in hemophilia with inhibitors: multicenter, open-label, phase I/II trials.
Blood advancesReal-world adherence to and persistence with emicizumab in people with hemophilia A using a national claims database.
Journal of managed care & specialty pharmacyFactor VIII originates primarily from anatomically distinct subsets of liver sinusoidal endothelial cells.
Blood advancesFrequency of T Regulatory Cells Subpopulations in Hemophilia A Patients with Inhibitors.
HamostaseologieA Case Report on Emergency Medicine: Suspected Acquired Hemophilia A in an Older Adult Male.
CureusAugmented emicizumab-driven coagulation potential in hemophilia A state by in vitro and in vivo supplementation of combined factors IX and X.
Research and practice in thrombosis and haemostasisDirect oral anticoagulant interference and removal in the factor VIII inhibitor assay.
Research and practice in thrombosis and haemostasisCorrigendum to "Real-world safety and effectiveness of rurioctocog alfa pegol in 338 patients with hemophilia A in South Korea: A postmarketing surveillance study" [Thromb. Res. 253 (2025) 109402].
Thrombosis researchEvidence-based dental management strategies for individuals with congenital hemophilia: a systematic review.
BMC oral healthInvestigation of the Suitability of the ROTEM Assay to Measure Coagulation Potential in Blood From Patients on Concizumab Prophylaxis.
Haemophilia : the official journal of the World Federation of HemophiliaSleep and Haemophilia-A Case-Control Analysis of Associated Factors.
Haemophilia : the official journal of the World Federation of HemophiliaLifetime Cost-Utility Analysis of Emicizumab Prophylaxis in Severe Haemophilia A Without Inhibitors in China: A Markov Model Analysis.
Haemophilia : the official journal of the World Federation of HemophiliaNine areas with outstanding challenges for hemophilia B research.
Therapeutic advances in hematologyCoexistence of two X-linked disorders: hemophilia A and G6PD deficiency.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisComplex Triple Deformity of the Knee Managed with Knee Arthrodesis in a Severe Hemophilia A Patient: A Case Report.
JBJS case connectorTreatment of canine hemophilia A via intraosseous delivery of a platelet-specific factor VIII-lentiviral vector.
Blood vessels, thrombosis & hemostasisCase Report: Intracranial hemophilic pseudotumor mimicking an aggressive neoplasm: a rare skull-invasive presentation.
Frontiers in surgeryExtraarticular and Intraarticular Key Lesions in Knee Joints of Adult Persons with Hemophilia-A Case-Control Ultrasound Study.
HamostaseologieAcquired Hemophilia A After Neoadjuvant Immunotherapy for Renal Cell Carcinoma.
Rhode Island medical journal (2013)Key Findings From the World Federation of Haemophilia National Member Organization Survey on Women and Girls With Bleeding Disorders.
Haemophilia : the official journal of the World Federation of HemophiliaTransplanted gene-modified placental cells boost FVIII activity in pediatric sheep without eliciting immunity, toxicity, or adverse events.
Frontiers in immunologyRedefining hemophilia management: treatment goals, nonfactor replacement therapies, and the role of fitusiran.
The American journal of managed careFeasibility and outcomes of switching factor VIII therapies: post-hoc analysis of patients transitioning from older plasma-derived and first-generation recombinant factor VIII to newer third-generation recombinant factor VIII replacement therapies within the Takeda factor VIII portfolio.
Expert review of hematologyPlatelet function abnormalities in acquired hemophilia A.
Research and practice in thrombosis and haemostasisThe IL-33 receptor ST2 as a therapeutic target for hemophilic arthropathy.
Expert opinion on therapeutic targetsOn Factor VIII Assay Discrepancies in Post-infusion Samples Obtained from Patients Treated with Efanesoctocog Alfa.
HamostaseologieAnti-emicizumab antibodies and their relevance in clinical practice.
Research and practice in thrombosis and haemostasisJoint tissue plasticity in hemophilia: insights from the Joint Activity and Damage Exam ultrasound protocol.
Research and practice in thrombosis and haemostasisInterfacility Collaboration for Hemophilia Care in Japan: A Retrospective Database Study Using a Japanese Healthcare Claims Database.
Health science reportsBalancing Promise and Peril: Hemophilia Gene Therapy Insights.
IUBMB lifeBone Health in Adults With Severe Haemophilia Receiving Different Prophylactic Treatments.
Haemophilia : the official journal of the World Federation of HemophiliaEvaluation of the Burden of Bone Fractures in People Living With Haemophilia: A Registry-Based Matched Cohort Study.
Haemophilia : the official journal of the World Federation of HemophiliaBridging the Gap: Efficacy of Low-Dose Emicizumab in Haemophilia A With or Without Inhibitors.
Haemophilia : the official journal of the World Federation of HemophiliaAn Initial Diagnosis of Acquired Hemophilia A in an Elderly Male With a Neck Hematoma.
CureusHealth care resources and costs associated with delivering gene therapy for hemophilia in clinical practice.
Research and practice in thrombosis and haemostasisComparative safety of drug therapies used in hemophilia A and B in Canada: a multi-center, retrospective study.
Research and practice in thrombosis and haemostasisEmicizumab in Acquired Hemophilia A: A Real-World Case Series with Patient-Level Outcome Analysis.
Seminars in thrombosis and hemostasisPerformance of Factor VIII Extended Half-Life Product Measurements in External Quality Assessment Programmes.
International journal of laboratory hematologyPlain Language Summary on Safety and Efficacy of Damoctocog Alfa Pegol in Previously Treated Children Aged 7 to < 12 Years With Severe Haemophilia A in the Phase 3, Open Label Alfa-PROTECT Main Study.
European journal of haematologyReference 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 Hemophiliaflorio HAEMO-A Digital Medical Device for Monitoring of Treatment, Symptoms and Physical Activities for People Living With Haemophilia.
Haemophilia : the official journal of the World Federation of HemophiliaImpact of antiplatelet therapy on the hemostatic efficacy of platelet-targeted FVIII gene therapy in hemophilia A mice.
Blood advancesImmunogenicity of Gene and Cell Therapies.
BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapyTherapeutic Antibodies in Hematology: Advances in Malignant and Non-Malignant Disorders.
CellsEngineering Liver-Specific Promoters: A Comprehensive Review of Design, Mechanisms, and Clinical Applications in Gene Therapy.
CellsCharacteristics and posttransplant outcomes of patients with congenital and acquired von Willebrand disease and hemophilia A and with renal transplants.
Research and practice in thrombosis and haemostasisCharacterization of a factor VIII/immunoglobulin heavy chain μ double-knockout mouse model of hemophilia A for long-term exposure to factor VIII proteins.
Research and practice in thrombosis and haemostasisEfficacy of radiosynoviorthesis on clinical outcomes in persons with haemophilia. A systematic review and meta-analysis.
Thrombosis researchNoncarrier mothers of hemophilia A patients with Intron 22 inversions often have other rearrangements.
Journal of thrombosis and haemostasis : JTHConcizumab in hemophilia with inhibitors: longer-term efficacy and safety results from the phase 3 explorer7 study.
Blood advancesMassive Intra-Abdominal Pseudotumor in a Patient With Hemophilia A Treated With Emicizumab: A Case Report.
Clinical case reportsRemarkable Prolongation of Irreversible APTT and Non-Significant Hemorrhage: A Rare High Titer of FVIII Inhibitor Case Report and Literature Review.
Journal of clinical laboratory analysisRace, Ethnicity, and Hemophilia: A Scoping Review.
Journal of racial and ethnic health disparitiesBarriers 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?
mBioPost-Infectious Acquired Hemophilia A: A Case Report and Review of the Literature.
Journal of Brown hospital medicineSeason-dependent low basal CD86 expression promotes immune cell activation upon treatment with plasma-derived factor Ⅷ products.
Research and practice in thrombosis and haemostasisSafety and Efficacy of Damoctocog Alfa Pegol in Previously Treated Children Aged 7 to < 12 Years With Severe Haemophilia A in the Phase 3, Open Label Alfa-PROTECT Main Study.
European journal of haematologyReal-World Diagnosis and Testing of Acquired Hemophilia A in Japan: A Web-Based Physician Survey.
Internal medicine (Tokyo, Japan)Repeated hemorrhagic ulcers of the esophagus associated with acquired hemophilia A: A case report.
World journal of gastrointestinal endoscopyRebalancing Hemostasis: Fitusiran as a First-in-Class RNAi Therapy in Hemophilia A and B.
Health science reportsA Deletion Variant of Human Factor VIII Displaying Low Immunogenicity in a Murine Model of Hemophilia A.
International journal of molecular sciencesA Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 Variant.
International journal of molecular sciencesLow-Load Quadriceps Strengthening With Blood Flow Restriction in Adults With Haemophilic Knee Arthropathy: A Randomised Controlled Trial.
Haemophilia : the official journal of the World Federation of HemophiliaCarotid Intima-Media Thickness as a Marker of Subclinical Atherosclerosis in Adolescents With Severe Haemophilia.
Haemophilia : the official journal of the World Federation of HemophiliaFive-Year Experience of Haemophilia Centre Certification Performed by the German, Austrian and Swiss Society for Thrombosis and Haemostasis Research.
Haemophilia : the official journal of the World Federation of Hemophiliavon Willebrand disease combined with other hemostasis disorders: an overlooked clinical entity.
Research and practice in thrombosis and haemostasisFitusiran: 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 : JTHRecurrence of FVIII Inhibitor during Surgery in a Patient with Severe Hemophilia A Receiving Emicizumab Prophylaxis.
Acta medica OkayamaSuccessful hemodialysis initiation in acquired hemophilia a managed with susoctocog alfa and emicizumab.
CEN case reportsHigh Prevalence of Heterotopic Ossification in Mild Hemophilia: A Biological Inevitability or a Prophylactic Blind Spot?
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineInhibition of CIRBP as a Novel Strategy to Alleviate Chondrocyte Ferroptosis in Haemophilic Arthropathy.
Haemophilia : the official journal of the World Federation of HemophiliaApproaches to Identify People With Haemophilia With Medicare Claims Data.
Haemophilia : the official journal of the World Federation of HemophiliaSafe Outpatient Dental Management of a Pediatric Patient With Mild Hemophilia A: A Case Report.
CureusMixing Test in a Case of Combined Acquired Hemophilia A and Coagulation Factor Deficiency: A Case Report.
CureusLaparoscopic Cholecystectomy for Acute Cholecystitis in a Patient with Acquired Hemophilia A: A Case Report of Perioperative Hemostatic Management with Plasma Exchange.
Surgical case reportsAcquired Hemophilia A in Sjögren's Syndrome: An Uncommon Bleeding Disorder Masked by Antiplatelet Use.
Annals of African medicineCurrent gynaecological management of women and girls with bleeding disorders in the United Kingdom: A UKHCDO haemophilia treatment centre survey and evaluation of real-world clinical practice for the British Journal of Haematology.
British journal of haematologyOrthopedic manifestations of acquired hemophilia: a case report on uncontrolled bleeding and progressive swelling post-phlebotomy- should fasciotomy be considered?
BMC musculoskeletal disordersHemophilic pseudotumor in the hand: a case report and literature review.
Skeletal radiology[How I treat acquired clotting factor deficiency].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiDefining the critical roles of factor VIII residues 1900 to 1908 in factor VIIIa-factor IXa complex formation and factor VIIIa activity.
Journal of thrombosis and haemostasis : JTHAcceptability and Determinants for Implementation of the EnzySystem, a Novel Near-Patient Testing Platform for Haemophilia A.
Haemophilia : the official journal of the World Federation of HemophiliaIntegration of Efanesoctocog Alfa in Clinical Practice for Children, Adolescents, and Young Adults With Severe Haemophilia A.
Haemophilia : the official journal of the World Federation of HemophiliaT cells from individuals with and without hemophilia A respond to the same epitopes in factor VIII.
Journal of thrombosis and haemostasis : JTHPost‑Marketing Surveillance of the Safety and Effectiveness of Emicizumab in Japanese Patients With Congenital Haemophilia A With Inhibitors.
Haemophilia : the official journal of the World Federation of HemophiliaOutcomes of Emicizumab Treatment for Haemophilia A Paediatric Patients: A Systematic Review With Meta-Analysis.
Haemophilia : the official journal of the World Federation of HemophiliaVildagliptin-Associated Acquired Hemophilia A.
The Annals of pharmacotherapyReal World Experience with use of Coagulation Factor VIIa at an Academic Medical Center.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisEight-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 haemostasismRNA based in vivo MG1113 antibody production as a potential therapeutic approach for hemophilia.
Journal of controlled release : official journal of the Controlled Release SocietyAcquired Hemophilia A Following Omalizumab Treatment in a Patient With Chronic Spontaneous Urticaria.
Journal of investigational allergology & clinical immunologyAOZORA 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 haemostasisOsteonecrosis of Femoral Head with Antiphospholipid Syndrome and Acquired Subclinical Hemophilia A.
Clinical laboratoryHeterogeneity of active mast cells, endothelial cells, and fibroblasts in hemophilic arthritis defined by synovial single-cell sequencing.
Scientific reportsDental Neglect by Individuals With Haemophilia: Clinical Challenges and Solutions.
Haemophilia : the official journal of the World Federation of HemophiliaPatient and Caregiver Preferences for Long-Term Prophylactic Treatment of Bleeds in Haemophilia: A Discrete-Choice Experiment.
Haemophilia : the official journal of the World Federation of HemophiliaHaemophilic Elbow Arthropathy: Mechanisms, Management and Future Perspectives.
Haemophilia : the official journal of the World Federation of HemophiliaRecurrent hemoptysis after laryngectomy-acquired hemophilia induced by laryngeal cancer surgery and chemoradiotherapy: A case report.
World journal of clinical cases[A cohort study on cardiovascular diseases in adults with hemophilia: an interim subanalysis on comorbidities and medication from ADVANCE Japan].
[Rinsho ketsueki] The Japanese journal of clinical hematologyEfficacy and safety of marstacimab prophylaxis in hemophilia A/B with inhibitors: results from the phase 3 BASIS trial.
BloodOptimized production and coagulation activity of rhFVII in HEK293 cells for bleeding disorders.
Protein expression and purificationThe aging hemophilia patient.
Hematology. American Society of Hematology. Education ProgramNew therapies in hemophilia: extend the half-life, mimic, or rebalance?
Hematology. American Society of Hematology. Education ProgramDeconstructing gene therapy in hemophilia for the clinician.
Hematology. American Society of Hematology. Education ProgramCell and Gene Therapy: Transforming Treatment Paradigms for Patient-Centric Care.
Clinical and translational scienceImpact of Inhibitor Development on the Cost Effectiveness of Prophylactic Treatment with Recombinant Factor VIII in Previously Untreated Patients with Severe Hemophilia A.
PharmacoEconomics - openContinuum of Care for Hemophilia: The Story of India.
Indian journal of pediatricsCase 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 surgeryCritical limb ischemia leading to amputation as a presentation of acquired hemophilia A with congenital factor XII deficiency: a case report.
International journal of surgery case reportsSelective embolization for recurrent gingiva bleeding associated with aneurysmal bone cyst and hemophilia: A case report.
International journal of surgery case reportsRobot-assisted total hip arthroplasty following gene therapy for hemophilia a arthropathy: a case report.
Arthroplasty (London, England)Author Correction: Long-term correction of hemophilia A via integration of a functionally enhanced FVIII gene into the AAVS1 locus by nickase in patient-derived iPSCs.
Experimental & molecular medicineHealth-Related Quality of Life in Egyptian Children With Haemophilia A and Chronic Arthropathy With the Era of Emicizumab Therapy: A Single-Centre Cohort Study.
Haemophilia : the official journal of the World Federation of HemophiliaPosterior fossa extradural haematoma with cerebral venous sinus thrombosis precipitates haemophilia a diagnosis: a paediatric case report and literature review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryNXT007 enhances in vitro coagulation potential in the coexistence of emicizumab in hemophilia A through distinct complex formation.
Research and practice in thrombosis and haemostasisEmicizumab, the factor VIII mimetic bispecific monoclonal antibody: effects on thrombin generation and thromboelastometry.
Research and practice in thrombosis and haemostasisAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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
- Deleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.
- Genotype-Specific Postural Control Deficits in Hemophilia A: Insights from Center of Pressure Analysis Beyond Radiographic Arthropathy.
- Monochorionic diamniotic twin brothers with severe hemophilia A: a case report.
- A combinatorial CAAR-T cell strategy to eliminate factor VIII inhibitors in preclinical models of hemophilia A.
- Acquired Hemophilia A During Prasugrel Therapy After Recurrent Acute Coronary Syndrome.
- FVIIIa Mimetics: New Approaches and Next-Generation Initiatives.
- A Jehovah's Witness with Acquired Hemophilia A Who Successfully Avoided Blood Transfusions by Receiving Emicizumab.
- Severe Hemophilia A and Congenital Antithrombin Deficiency: A Case of Natural Hemostatic Rebalancing.
- The Prevalence of Coagulation Factor Deficiency Among Pediatric Populations in Medina City, Saudi Arabia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98878(Orphanet)
- OMIM OMIM:134500(OMIM)
- MONDO:0010602(MONDO)
- Hemofilia Hereditaria(PCDT · Ministério da Saúde)
- GARD:6591(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q2092064(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
