Hemofilia é uma doença genética que causa sangramentos que aparecem sem motivo aparente ou que demoram muito para parar, por causa da falta dos fatores VIII ou IX.
Introdução
O que você precisa saber de cara
Hemofilia é uma doença genética que causa sangramentos que aparecem sem motivo aparente ou que demoram muito para parar, por causa da falta dos fatores VIII ou IX.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 26 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 59 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
3 genes identificados 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.
Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa (PubMed:8295821, PubMed:2592373, PubMed:20121197, PubMed:20121198, PubMed:1730085, PubMed:19846852, PubMed:39880037)
Secreted
Hemophilia B
An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma.
Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX
Secreted
Factor XI deficiency
A hemorrhagic disease characterized by reduced levels and activity of factor XI resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate.
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 VII exogenous protein
Mecanismo: Coagulation factor IX exogenous protein
Mecanismo: Coagulation factor IX exogenous protein
Mecanismo: Coagulation factor IX exogenous protein
Variantes genéticas (ClinVar)
1,964 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 16 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
23 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
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
968 ensaios clínicos encontrados, 36 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 6.445
Managing heavy menstrual bleeding in adolescents with bleeding disorders: Outcomes from a pragmatic LMIC approach.
Este estudo revelou que um regime de baixo custo, combinando progesterona, ácido tranexâmico e ferro, é altamente eficaz no manejo do sangramento menstrual intenso (HMB) em adolescentes com distúrbios de coagulação. Essa abordagem controla efetivamente o HMB, corrige a anemia e melhora a qualidade de vida, minimizando significativamente a necessidade de transfusões de sangue e produtos hemostáticos, incluindo fatores de coagulação caros. Para pacientes e médicos, isso representa uma estratégia prática e acessível, especialmente em regiões com recursos limitados, para evitar complicações graves e melhorar o bem-estar.
🇧🇷 traduzidoGene Therapy for Hemophilia: Innovations, Milestones, and Future Prospects.
A terapia genética para a hemofilia representa uma solução transformadora, corrigindo mutações genéticas para que o corpo do paciente produza seus próprios fatores de coagulação, eliminando a necessidade de infusões frequentes e superando o desenvolvimento de inibidores. Essa abordagem, com avanços notáveis de cientistas (incluindo indianos) usando vetores virais e futuras integrações com edição genômica como CRISPR/Cas9, promete eficácia a longo prazo e uma qualidade de vida significativamente melhor, apesar dos desafios de custo, ética e acesso equitativo que ainda precisam ser superados.
🇧🇷 traduzidoIntracranial hemorrhage in patients with primary brain cancer receiving anticoagulation.
Este estudo avaliou o risco de hemorragia intracraniana (HIC) em pacientes com câncer cerebral primário que necessitam de anticoagulação terapêutica, comparando anticoagulantes orais diretos (DOACs) com heparina de baixo peso molecular (LMWH). Os resultados indicaram uma incidência numericamente menor de HIC com DOACs (6,8%) em comparação com LMWH (13,0%) ao longo de 12 meses, embora os pacientes em DOACs tivessem um perfil de risco de sangramento geralmente mais baixo. Para pacientes e médicos, estes dados fornecem suporte para o uso de DOACs – que são de administração mais fácil – em pacientes com câncer cerebral primário que precisam de anticoagulação.
🇧🇷 traduzidoFIXa-triggered thrombin generation correlates with FVIII levels less than 1% in reconstituted plasma mimicking samples obtained from patients with severe hemophilia A.
Pacientes com hemofilia A grave podem sangrar menos do que o esperado, mas os testes tradicionais têm dificuldade em medir seus baixíssimos níveis de Fator VIII (<1%) com precisão. Este estudo desenvolveu um teste mais sensível (TGA ativado por FIXa) que consegue quantificar o Fator VIII até 0,1%. Essa nova abordagem permite aos médicos compreender melhor a tendência de sangramento de cada paciente, facilitando uma terapia de reposição mais personalizada e eficaz.
🇧🇷 traduzido[Long-term efficacy analysis of the individualized prophylaxis regimen in children with moderate or severe haemophilia A].
Este estudo avaliou a eficácia a longo prazo do regime de profilaxia individualizada CHIPS em crianças com hemofilia A moderada ou grave. Os resultados demonstraram que o tratamento reduziu significativamente a frequência de sangramentos, inclusive nas articulações, e promoveu a resolução de articulações-alvo, mantendo a saúde articular e melhorando a qualidade de vida. Embora o consumo anual de fator VIII tenha aumentado devido à escalada de doses individualizadas, o regime CHIPS mostrou-se uma estratégia eficaz para melhorar desfechos clínicos e a qualidade de vida desses pacientes.
🇧🇷 traduzidoPublicações recentes
Acquired Hemophilia A During Prasugrel Therapy After Recurrent Acute Coronary Syndrome.
🥈 ObservacionalEvaluation of Access to Care for Women Carriers of Haemophilia in Haemophilia Treatment Centres: A Multinational Experience.
🥉 Relato de casoFVIIIa Mimetics: New Approaches and Next-Generation Initiatives.
Deep learning for pediatric synovial recess distension detection in hemophilia: synthetic image augmentation with styleGAN2-ADA.
🥇 Ensaio randomizadoA Jehovah's Witness with Acquired Hemophilia A Who Successfully Avoided Blood Transfusions by Receiving Emicizumab.
📚 EuropePMC10.797 artigos no totalmostrando 199
Postpartum 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 HemophiliaAdherence to Clotting Factor Prophylaxis in Adolescent and Adult Males With Haemophilia.
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 immunologyInhibition of activated protein C anticoagulant function enhances coagulation but does not interrupt downstream mechanisms driving hemophilic arthropathy.
Experimental hematologyHow real is the thrombotic risk with the rebalancing agents used to treat hemophilia?
Journal of thrombosis and haemostasis : JTHManaging heavy menstrual bleeding in adolescents with bleeding disorders: Outcomes from a pragmatic LMIC approach.
Blood cells, molecules & diseasesABO blood group-mediated VWF kinetics associated with early phenotypic divergence in dizygotic twins with severe hemophilia A.
Thrombosis researchGene Therapy for Hemophilia: Innovations, Milestones, and Future Prospects.
Current gene therapyTherapeutic Plateletpheresis for Thrombocytosis: Critical Analytic Reviews and Original Multicenter Experience.
Transfusion medicine reviewsInvestigation 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 rehabilitationIntracranial hemorrhage in patients with primary brain cancer receiving anticoagulation.
Blood vessels, thrombosis & hemostasisIn 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 thrombosisOptimized AAVrh10 and Factor 9 vectors demonstrate improved phenotypic rescue in hemophilia B mice.
Thrombosis researchDelayed diagnosis of acquired hemophilia a complicating hepatocellular carcinoma: a rare case of hepatectomy following atezolizumab and bevacizumab therapy.
Clinical journal of gastroenterologyPreceding Infections and Coagulation Biomarkers in Early-Onset Cryptogenic Ischemic Stroke.
StrokeThe Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well.
Journal of visualized experiments : JoVEAcute 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 hematology[Long-term efficacy analysis of the individualized prophylaxis regimen in children with moderate or severe haemophilia A].
Zhonghua er ke za zhi = Chinese journal of pediatricsAn International Survey on the Assessment of Screening and Treatment of Thrombosis Complications in Pediatrics (ASTRO-Kids): Communication from the ISTH SSC Subcommittee on Pediatric and Neonatal Thrombosis and Hemostasis.
Journal of thrombosis and haemostasis : JTHSex Differences in Cancer-Associated Thrombosis.
International journal of molecular sciencesDeleterious 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 sciencesActivated Protein C and the Retina: From Physiology to Therapeutic Potential.
International journal of molecular sciencesPsychosocial Outcomes and Quality of Life in Patients with Hemophilia a Without Inhibitors: The HemoLIFE Study.
Journal of clinical medicineBuilding a gene editing lexicon: a model for rare and inherited disorders.
Gene therapyPostviral Anti-PF4 Immunothrombosis in Children: A Narrative Review with Practical Guidance.
HamostaseologieBalancing the benefits and risks of rebalancing coagulation in haemophilia.
The Lancet. HaematologyBuilding safeguards for gene therapy in haemophilia.
The Lancet. HaematologyBleeding 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 economicsCase Report: jaundice in the young: the complexity of rare diseases beyond cholangiopathies.
Frontiers in gastroenterology (Lausanne, Switzerland)Mechanisms 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 therapyRegional variations and trends in hemophilia prevalence: A global analysis with future projection.
PLOS global public healthExploring Italian nursing staff in anticoagulation clinics: a cluster-based description of current practice, nurse self-efficacy, job satisfaction, and interprofessional collaboration.
Internal and emergency medicineSingle Cell Analysis Reveals the Presence of Novel Intermediate Cells in Both Mice and Patients With Severe MASLD.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyMonochorionic diamniotic twin brothers with severe hemophilia A: a case report.
Frontiers in pediatricsDiagnostic challenges and perioperative management of a lateral cystic neck mass in an adult patient with hemophilia B: A case report.
SAGE open medical case reportsComprehensive Care for People With Hemophilia: A Dental Perspective From an Indian Scenario.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryAcquired Hemostasis Disorders.
Seminars in thrombosis and hemostasisNational Bleeding Disorder Foundation Clinical Practice Recommendations for Laboratory Screening of Iron Deficiency With and Without Anemia in the Inherited Bleeding Disorders Population.
Haemophilia : the official journal of the World Federation of HemophiliaHaemophilia Care in India: A Multicentre Cross-Sectional Analysis From the World Bleeding Disorders Registry Benchmarking Across Global Gross National Income Strata.
Haemophilia : the official journal of the World Federation of HemophiliaSubclinical 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 reportsPlatelet dense granule defect: experience in the French population.
Research and practice in thrombosis and haemostasisA 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 : JTHArtificial Intelligence for Automated Detection of Joint Bleeding via Ultrasound in Hemophilia: Advancing Standardization.
Journal of thrombosis and haemostasis : JTHTen-Year Trends in Haemophilia A Care in the East Mediterranean Region: Insights From WFH Annual Global Surveys (2014-2023).
Haemophilia : the official journal of the World Federation of HemophiliaDevelopment of a Novel Hemophilia A Mouse Model to Study Emicizumab and Factor VIII Inhibitor Risk.
Blood advancesEffect of Recombinant Tissue-Type Plasminogen Activator on Peripheral Blood Mononuclear Cells of Patients With Alteplase-Associated Angioedema.
Journal of investigational allergology & clinical immunologyKinesiophobia in Parents of Children with Haemophilia.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPGlanzmann thrombasthenia presenting with upper gastrointestinal bleeding: a case series and review of the literature.
Frontiers in medicineIdentification of Missense Variants in the C-domains of Von Willebrand Factor that cause Gain-of-Function-Like Activity.
Blood advancesDiscrepancies 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.
CureusOptimizing pediatric ITP therapy: a real-world study on plasma concentration-guided eltrombopag dosing.
Annals of hematologyMeasurement uncertainty of ISO 17511:2020 compliant and globally standardized PT/INR test results.
Research and practice in thrombosis and haemostasisImmune Response Associated Hepatotoxicity in Hemophilia Gene Therapy: Mechanisms, Management, and Challenges.
Journal of hematologyFactor II and Factor V Deficiencies: Current Management, Care Gaps and Call to Action for Therapeutic Advances.
Haemophilia : the official journal of the World Federation of HemophiliaEmicizumab in the treatment of acquired hemophilia A: A Two-Center experience.
Annals of hematologyImplementing Shared Decision-Making in Haemophilia Care: Best Practice Recommendations From a Western European Multi-Stakeholder Delphi Process.
Haemophilia : the official journal of the World Federation of HemophiliaMachine 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 pharmacologyAdvancing pilonidal disease care through pediatric endoscopic treatment (PEPSiT): early insights.
Pediatric surgery internationalEtranacogene dezaparvovec in people with hemophilia B with preexisting adeno-associated virus 5 neutralizing antibodies: 4-year subgroup results from the HOPE-B trial.
Research and practice in thrombosis and haemostasisAssociation of Patient-Reported Outcomes with Hemophilia A Inhibitor Status and Treatment Product Type.
Journal of clinical medicineFrom nothing to abundance for hemophilia with inhibitors.
BloodManaging 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 journalGut microbiome composition and function reflect socioeconomic deprivation.
NPJ biofilms and microbiomesPathogen-Reduce Cryoprecipitate: An Overview of Method(s) in Pathogen Reduction, Transfusion-Transmitted Infection Risk, and Inventory Management Considerations.
Clinics in laboratory medicineD-Dimer levels during pregnancy and postpartum: non-applicability of regularly used cut-offs for diagnosis of suspected pulmonary embolism.
Archives of gynecology and obstetricsUnderstanding Treatment Care and Delays in Acquired Hemophilia A: A Population-Based Study From Nova Scotia, Canada.
EJHaemSafety, efficacy and patient-reported outcomes 6 years after fidanacogene elaparvovec in adults with hemophilia B.
Blood advancesBeyond a century of discovery: the global and persistent burden of underdiagnosis in von Willebrand disease.
Research and practice in thrombosis and haemostasisLong-term doctor-patient communication: a patient‑reported perspective from a large Italian survey.
European journal of internal medicineFactor-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 HemophiliaExploring gene editing as a potential therapeutic strategy for hemophilia.
Frontiers in bioengineering and biotechnologyEmpowering People With Haemophilia: A Mobile Solution for Self-Management.
Healthcare technology lettersBurden of disease in adult patients with hereditary angioedema: results from a multinational survey.
Orphanet journal of rare diseasesAn ultra-expansible chitosan-silk fibroin miniaturized sponge loaded with tranexamic acid modified gelatin for coagulation abnormalities.
Carbohydrate polymersGTH 2026: Connected Science - Advanced Solutions.
HamostaseologieA Multifactorial Case of Acquired Hemophilia A.
CureusResearch Progress on Transitional Care for Hemophilia Patients from Pediatric to Adult Services: Focusing on Disease Severity and Care Continuity.
Journal of blood medicineGene 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 haemostasisRecombinant FVIII Concentrates Show Distinct Stability Profiles During Heat Treatment Prior to Inhibitor Testing.
International journal of laboratory hematologyThrombin 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 sangueRare inherited autosomal bleeding disorders in women: sex-related bleeding, pregnancy and delivery. A narrative review.
Blood transfusion = Trasfusione del sangueAnalytical performance of the Roche Elecsys TnT hs Gen 6 immunoassay.
Clinical chemistry and laboratory medicineTwelve-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 medicineBurden of hereditary angioedema: results from a multinational survey of caregivers for adult and pediatric patients.
Orphanet journal of rare diseasesPostpartum 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.
HaematologicaThe importance of data transformation in correlation analysis of factor VIII and inhibitor titers in acquired hemophilia.
Research and practice in thrombosis and haemostasisThe unforeseen consequence of smart bio-implants for hemophilia: chronic inflammation and antibody development.
Annals of medicine and surgery (2012)QFitlia (Fitusiran): redefining hemophilia treatment with RNAi therapy. A correspondence.
Annals of medicine and surgery (2012)Impact of prophylaxis, inhibitors, and genetics on joint outcomes according to the IPSG-MRI score in hemophilia A, B and vWD type 3.
Frontiers in medicineResearch priorities for pediatric venous thromboembolism prevention: communication from the ISTH SSC Subcommittee on Pediatric and Neonatal Thrombosis and Hemostasis.
Journal of thrombosis and haemostasis : JTHClinical 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/HemostasisRhein-modified hemodialysis membranes suppress red blood cell fatigue and thrombosis.
Colloids and surfaces. B, BiointerfacesMutations 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 advancesVascular Disease Patient Information Page: Hereditary hemorrhagic telangiectasia (HHT).
Vascular medicine (London, England)Prevalence of hospital readmission, related causes and determinants in older people from 2010 to 2022.
Internal and emergency medicineFrequency 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 haemostasisEtranacogene dezaparvovec in people with hemophilia B and without adeno-associated virus serotype 5 neutralizing antibodies: a 4-year subgroup analysis of the Health Outcomes with Padua Gene; Evaluation in Hemophilia B (HOPE-B) trial.
Research and practice in thrombosis and haemostasisDirect oral anticoagulant interference and removal in the factor VIII inhibitor assay.
Research and practice in thrombosis and haemostasisTranslational insights from nonclinical studies of AAV gene therapies for hemophilia: mechanisms underpinning variability and durability of gene expression.
Therapeutic advances in hematologyCorrigendum 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 researchTowards a value-based approach in hemophilia: indications from the FAR-BENE study.
Blood transfusion = Trasfusione del sangueEvidence-based dental management strategies for individuals with congenital hemophilia: a systematic review.
BMC oral healthMild hemophilia B in a female with compound heterozygous FIX variants presented with abdominal pain and diagnosed with nutcracker syndrome, and median arcuate ligament syndrome.
Thrombosis researchInvestigation 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 HemophiliaHemophilia Severity and Its Association With Mental Health and Health-Related Quality of Life-Results From a Cross-Sectional Multicenter Study.
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 & hemostasisMolecular Mechanisms of Factor IX Signal Peptide and Propeptide Mutations Underlying Hemophilia B.
Thrombosis and haemostasisEfficacy and safety of avapritinib in advanced systemic mastocytosis: 4-year follow-up of the PATHFINDER study.
Blood advancesCase 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)Building a Comprehensive Sickle Cell Disease Program in Western Kenya: A Decade of Experience and Growth.
Annals of global healthPaediatric Subanalysis of TSUBASA, Assessing Physical Activity, Bleeding, Quality of Life and Safety in People with Haemophilia A Receiving Emicizumab.
TH open : companion journal to thrombosis and haemostasisOutcomes in participants switching from FVIII replacement therapy to efanesoctocog alfa prophylaxis in XTEND-1: a post hoc analysis.
Therapeutic advances in hematologyKey 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 HemophiliaClinical outcomes and health-system challenges in congenital afibrinogenemia: a single-centre prospective case series.
Blood cells, molecules & diseasesRefined target-mediated drug disposition modeling of the anti-tissue factor pathway inhibitor antibody MG1113 in cynomolgus monkeys and rabbits.
Frontiers in pharmacologyTransplanted 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 hematologyCentral retinal vein occlusion in hemophilia B: between bleeding and thrombosis.
Polish archives of internal medicinePlatelet function abnormalities in acquired hemophilia A.
Research and practice in thrombosis and haemostasisUpdated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Scientific reportsThe IL-33 receptor ST2 as a therapeutic target for hemophilic arthropathy.
Expert opinion on therapeutic targetsLiver Transplantation for a Patient With Hemophilia and HIV/HCV Coinfection Complicated by Pulmonary Hypertension.
Hepatology research : the official journal of the Japan Society of HepatologyAcquired thrombotic thrombocytopenic purpura and HIV infection: a case report and review of the literature.
Annals of hematologyOn Factor VIII Assay Discrepancies in Post-infusion Samples Obtained from Patients Treated with Efanesoctocog Alfa.
HamostaseologieFactor VII deficiency is more prevalent than previously reported.
Research and practice in thrombosis and haemostasisMalignancy and gene therapy in hemophilia.
Research and practice in thrombosis and haemostasisAnti-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 HemophiliaCharacterization of allogeneic platelet gel from adult donor blood and umbilical cord blood activated with locally prepared cryoprecipitate and thrombin: A pilot exercise.
TransfusionReassessing the Evidence and Opportunities Ahead for Pediatric Iron Deficiency Anemia.
The Journal of pediatricsGenetic predisposition and the role of homocysteine in a female with late diagnosis of autism.
Psychiatric geneticsAn 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 haemostasisFrom Hip Effusion to Hemophilia: Unveiling the Cause of Pain in 6-Month-Old Infant. A Case Report.
Journal of orthopaedic case reportsIL-15 overexpression promotes memory program and anti-tumor activity of CD64 CAR T cells in a preclinical AML model.
Communications biologyHow Do Muscles Protect Joints in Hemophilia? Integrating Mechanical, Neural, and Endocrine Mechanisms.
Seminars in thrombosis and hemostasisEmicizumab in Acquired Hemophilia A: A Real-World Case Series with Patient-Level Outcome Analysis.
Seminars in thrombosis and hemostasisGenetic regulation of fatty acid content in adipose tissue.
American journal of human geneticsPerformance 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 haematologyAssociações
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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.
- Managing heavy menstrual bleeding in adolescents with bleeding disorders: Outcomes from a pragmatic LMIC approach.
- Gene Therapy for Hemophilia: Innovations, Milestones, and Future Prospects.
- Intracranial hemorrhage in patients with primary brain cancer receiving anticoagulation.
- 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
- [Long-term efficacy analysis of the individualized prophylaxis regimen in children with moderate or severe haemophilia A].
- Acquired Hemophilia A During Prasugrel Therapy After Recurrent Acute Coronary Syndrome.
- Evaluation of Access to Care for Women Carriers of Haemophilia in Haemophilia Treatment Centres: A Multinational Experience.
- FVIIIa Mimetics: New Approaches and Next-Generation Initiatives.
- Deep learning for pediatric synovial recess distension detection in hemophilia: synthetic image augmentation with styleGAN2-ADA.
- A Jehovah's Witness with Acquired Hemophilia A Who Successfully Avoided Blood Transfusions by Receiving Emicizumab.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:448(Orphanet)
- MONDO:0018660(MONDO)
- Hemofilia Hereditaria(PCDT · Ministério da Saúde)
- GARD:10418(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q134003(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
