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Hemofilia
ORPHA:448CID-10 · D66PCDT · SUSDOENÇA RARA

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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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.

Pesquisas ativas
36 ensaios
968 total registrados no ClinicalTrials.gov
Publicações científicas
16.921 artigos
Último publicado: 2026 Apr 16
Medicamentos
13 registrados
SIMOCTOCOG ALFA, EMICIZUMAB, EFMOROCTOCOG ALFA

Tem tratamento?

13 medicamentos registrados
Ver detalhes, fases e interações →
SIMOCTOCOG ALFAEMICIZUMABEFMOROCTOCOG ALFAANTIHEMOPHILIC FACTOR, PEGYLATED (MW 20000) HUMAN SEQUENCE RECOMBINANTEPTACOG BETA (ACTIVATED)TRANEXAMIC ACIDEPTACOG ALFA (ACTIVATED)NONACOG BETA PEGOLCOAGULATION FACTOR IX HUMANALBUTREPENONACOG ALFA

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
7.7
Europe
Início
Antenatal
+ infancy, neonatal
🏥
SUS: Cobertura parcialScore: 50%
PCDT disponível3 medicamentos CEAFCID-10: D66
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🩸
Sangue
18 sintomas
🦴
Ossos e articulações
5 sintomas
💪
Músculos
4 sintomas
🫘
Rins
2 sintomas
🫃
Digestivo
1 sintomas
❤️
Coração
1 sintomas

+ 26 sintomas em outras categorias

Características mais comuns

Artralgia
Tempo de sangramento prolongado
Epistaxe espontânea e recorrente
Ruptura esplênica
Sangramento de início tardio
Tromboembolismo
59sintomas
Sem dados (59)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 59 características clínicas mais associadas, ordenadas por frequência.

ArtralgiaArthralgia
Tempo de sangramento prolongadoProlonged bleeding time
Epistaxe espontânea e recorrenteSpontaneous, recurrent epistaxis
Ruptura esplênicaSplenic rupture
Sangramento de início tardioDelayed onset bleeding

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico16.921PubMed
Últimos 10 anos200publicações
Pico2026193 papers
Linha do tempo
2026Hoje · 2026🧪 1978Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

F8Coagulation factor VIIIDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Secreted, extracellular space

VIAS BIOLÓGICAS (1)
COPII-mediated vesicle transport
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Adipose Visceral Omentum
19.6 TPM
Tecido adiposo
15.7 TPM
Coração - Átrio
13.5 TPM
Mama
12.6 TPM
Ovário
12.6 TPM
OUTRAS DOENÇAS (6)
hemophilia Athrombophilia, X-linked, due to factor 8 defectmoderately severe hemophilia Asevere hemophilia A
HGNC:3546UniProt:P00451
F9Coagulation factor IXDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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)

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
Intrinsic Pathway of Fibrin Clot FormationProtein hydroxylation
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
235.3 TPM
Testículo
0.1 TPM
Cervix Ectocervix
0.0 TPM
Baço
0.0 TPM
Cervix Endocervix
0.0 TPM
OUTRAS DOENÇAS (7)
thrombophilia, X-linked, due to factor 9 defecthemophilia Bmild hemophilia Bsymptomatic form of hemophilia B in female carriers
HGNC:3551UniProt:P00740
F11Coagulation factor XIDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
Intrinsic Pathway of Fibrin Clot FormationDefective F9 activation
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
60.0 TPM
Pâncreas
12.0 TPM
Rim - Medula
8.1 TPM
Rim - Córtex
2.4 TPM
Pulmão
1.0 TPM
OUTRAS DOENÇAS (1)
congenital factor XI deficiency
HGNC:3529UniProt:P03951

Medicamentos e terapias

SIMOCTOCOG ALFAPhase 4

Mecanismo: Coagulation factor VIII exogenous protein

EMICIZUMABPhase 4

Mecanismo: Coagulation factor IX and X other

EFMOROCTOCOG ALFAPhase 4

Mecanismo: Coagulation factor VIII exogenous protein

ANTIHEMOPHILIC FACTOR, PEGYLATED (MW 20000) HUMAN SEQUENCE RECOMBINANTPhase 4

Mecanismo: Coagulation factor VIII exogenous protein

EPTACOG BETA (ACTIVATED)Phase 4

Mecanismo: Coagulation factor VII exogenous protein

TRANEXAMIC ACIDPhase 4

Mecanismo: Plasminogen inhibitor

EPTACOG ALFA (ACTIVATED)Phase 4

Mecanismo: Coagulation factor VII exogenous protein

NONACOG BETA PEGOLPhase 4

Mecanismo: Coagulation factor IX exogenous protein

COAGULATION FACTOR IX HUMANPhase 4

Mecanismo: Coagulation factor IX exogenous protein

ALBUTREPENONACOG ALFAPhase 4

Mecanismo: Coagulation factor IX exogenous protein

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

1,964 variantes patogênicas registradas no ClinVar.

🧬 F8: NM_000132.4(F8):c.7016G>T (p.Arg2339Met) ()
🧬 F8: NM_000132.4(F8):c.310G>A (p.Val104Ile) ()
🧬 F8: GRCh38/hg38 Xq28(chrX:154881139-155396181)x2 ()
🧬 F8: GRCh38/hg38 Xq26.3-28(chrX:137491159-155700385)x2 ()
🧬 F8: NM_000132.4(F8):c.908C>A (p.Ala303Glu) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 16 variantes classificadas pelo ClinVar.

15
1
Patogênica (93.8%)
VUS (6.3%)
VARIANTES MAIS SIGNIFICATIVAS
F8: NM_000132.4(F8):c.7016G>T (p.Arg2339Met) [Likely pathogenic]
F9: NM_000133.4(F9):c.680T>C (p.Val227Ala) [Pathogenic]
F8: NM_000132.4(F8):c.954_955del (p.Leu319fs) [Pathogenic]
F9: NM_000133.4(F9):c.-35G>A [Pathogenic]
F8: NM_000132.4(F8):c.2113+461_2113+473del [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado11
3Fase 38
2Fase 24
1Fase 12
·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 10 medicamentos · 20 ensaios
✓ Aprovados — podem ser usados hoje
SIMOCTOCOG ALFAEMICIZUMABEFMOROCTOCOG ALFAANTIHEMOPHILIC FACTOR, PEGYLATED (MW 20000) HUMAN SEQUENCE RECOMBINANTEPTACOG BETA (ACTIVATED)TRANEXAMIC ACIDEPTACOG ALFA (ACTIVATED)NONACOG BETA PEGOLCOAGULATION FACTOR IX HUMANALBUTREPENONACOG ALFA
Carregando informações de tratamento...

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

🟢 Recrutando agora

17 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT06820515 · ATHNdataset RegistryRecrutando
NCT07285460 · A Study to Investigate the Efficacy and Safety of Fitusiran …Recrutando
PHASE3
NCT07080905 · Phase 3, Open-label, Single-dose Study of CSL222 in Adolesce…Recrutando
PHASE3
NCT06222697 · A Study to Learn More About the Safety of Damoctocog-alfa-pe…Recrutando
NCT06379789 · A Study to Investigate the Safety and Effectiveness of a Coa…Recrutando
PHASE1, PHASE2
NCT05145127 · Open-Label Extension Study of Marstacimab in Hemophilia Part…Recrutando
PHASE3
NCT07416526 · A Clinical Study to Evaluate the Effects of NXT007 Compared …Recrutando
PHASE3
NCT07523399 · Joint Health, Balance and Quality of Life in Adults With Hem…Recrutando
NCT05568719 · Safety and Effectiveness of Giroctocogene Fitelparvovec or F…Recrutando
PHASE3
NCT07416604 · A Clinical Study to Evaluate the Effects of NXT007 Compared …Recrutando
PHASE3
NCT04278404 · Pharmacokinetics, Pharmacodynamics, and Safety Profile of Un…Recrutando
NCT05987449 · A Study to Evaluate the Safety, Tolerability, Pharmacokineti…Recrutando
PHASE1, PHASE2
NCT05500807 · Emicizumab for Severe Von Willebrand Disease (VWD) and VWD/H…Recrutando
PHASE1
NCT05611801 · A Clinical Trial of Study Medicine (Marstacimab) in Pediatri…Recrutando
PHASE3
NCT06703606 · A Study to Learn About How Changing Therapy From Emicizumab …Recrutando
PHASE1
NCT06940830 · Long-term Study Evaluating Joint Health in People With Haemo…Recrutando
PHASE4
NCT07101926 · Monitoring of Anti-TFPI in HemophiliaRecrutando

Outros ensaios clínicos

968 ensaios clínicos encontrados, 36 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Divulgue para pacientes e familiares que acompanham esta doença.
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Publicações mais relevantes

🥇Melhor nível de evidência: Ensaio randomizado
Timeline de publicações
6.445 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 6.445

#1

Managing heavy menstrual bleeding in adolescents with bleeding disorders: Outcomes from a pragmatic LMIC approach.

Blood cells, molecules &amp; diseases2026 Mar 19

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.

🇧🇷 traduzido
#2

Gene Therapy for Hemophilia: Innovations, Milestones, and Future Prospects.

Current gene therapy2026 Mar 16

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.

🇧🇷 traduzido
#3

Intracranial hemorrhage in patients with primary brain cancer receiving anticoagulation.

Blood vessels, thrombosis &amp; hemostasis2026 May

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.

🇧🇷 traduzido
#4

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 &amp; fibrinolysis : an international journal in haemostasis and thrombosis2026 Mar 17

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
#5

[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 pediatrics2026 Mar 14

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.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC10.797 artigos no totalmostrando 199

2026

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 Hemophilia
2026

Adherence to Clotting Factor Prophylaxis in Adolescent and Adult Males With Haemophilia.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Case Report: Differential diagnosis and clinical management of isolated prolonged activated partial thromboplastin time.

Frontiers in immunology
2026

Inhibition of activated protein C anticoagulant function enhances coagulation but does not interrupt downstream mechanisms driving hemophilic arthropathy.

Experimental hematology
2026

How real is the thrombotic risk with the rebalancing agents used to treat hemophilia?

Journal of thrombosis and haemostasis : JTH
2026

Managing heavy menstrual bleeding in adolescents with bleeding disorders: Outcomes from a pragmatic LMIC approach.

Blood cells, molecules &amp; diseases
2026

ABO blood group-mediated VWF kinetics associated with early phenotypic divergence in dizygotic twins with severe hemophilia A.

Thrombosis research
2026

Gene Therapy for Hemophilia: Innovations, Milestones, and Future Prospects.

Current gene therapy
2026

Therapeutic Plateletpheresis for Thrombocytosis: Critical Analytic Reviews and Original Multicenter Experience.

Transfusion medicine reviews
2026

Investigation 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 rehabilitation
2026

Intracranial hemorrhage in patients with primary brain cancer receiving anticoagulation.

Blood vessels, thrombosis &amp; hemostasis
2026

In Vitro Stability Study Supports the Use of Efmoroctocog Alfa and Rurioctocog Alfa Pegol for Continuous Infusion in Hemophilia A.

Seminars in thrombosis and hemostasis
2026

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 &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2026

Optimized AAVrh10 and Factor 9 vectors demonstrate improved phenotypic rescue in hemophilia B mice.

Thrombosis research
2026

Delayed diagnosis of acquired hemophilia a complicating hepatocellular carcinoma: a rare case of hepatectomy following atezolizumab and bevacizumab therapy.

Clinical journal of gastroenterology
2026

Preceding Infections and Coagulation Biomarkers in Early-Onset Cryptogenic Ischemic Stroke.

Stroke
2026

The Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well.

Journal of visualized experiments : JoVE
2026

Acute recurrent appendicitis in a hemophiliac Nepalese girl: beyond just… avoidance of formidable cuts! - A case report.

International journal of surgery case reports
2026

New Methods for Activated Partial Thromboplastin Time -Based Clot Waveform Analysis: Normalization and Multi-Parameter Combination.

International journal of general medicine
2026

An analysis of attitudes toward gene therapy in people with severe hemophilia in Germany, a survey-based cross-sectional study.

Therapeutic advances in hematology
2026

[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 pediatrics
2026

An 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 : JTH
2026

Sex Differences in Cancer-Associated Thrombosis.

International journal of molecular sciences
2026

Deleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.

International journal of molecular sciences
2026

Genotype-Specific Postural Control Deficits in Hemophilia A: Insights from Center of Pressure Analysis Beyond Radiographic Arthropathy.

International journal of molecular sciences
2026

Activated Protein C and the Retina: From Physiology to Therapeutic Potential.

International journal of molecular sciences
2026

Psychosocial Outcomes and Quality of Life in Patients with Hemophilia a Without Inhibitors: The HemoLIFE Study.

Journal of clinical medicine
2026

Building a gene editing lexicon: a model for rare and inherited disorders.

Gene therapy
2026

Postviral Anti-PF4 Immunothrombosis in Children: A Narrative Review with Practical Guidance.

Hamostaseologie
2026

Balancing the benefits and risks of rebalancing coagulation in haemophilia.

The Lancet. Haematology
2026

Building safeguards for gene therapy in haemophilia.

The Lancet. Haematology
2026

Bleeding 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 economics
2025

Case Report: jaundice in the young: the complexity of rare diseases beyond cholangiopathies.

Frontiers in gastroenterology (Lausanne, Switzerland)
2026

Mechanisms of thrombin inhibition by protein S and the TFPIα-fVshort-protein S complex.

Biophysical journal
2026

In 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 Hemophilia
2026

Treatment 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 Hemophilia
2026

Persons with high Hemophilia Joint Health Scores have reduced functional range of motion during simulated sports activities.

Research and practice in thrombosis and haemostasis
2026

[Acquired hemophilia A secondary to marginal zone lymphoma].

Revue medicale de Liege
2026

Phase 1 pilot study for hemophilia-A: AAV8 vector with prophylactic tacrolimus-glucocorticoid achieves therapeutic FVIII activity.

Signal transduction and targeted therapy
2026

Regional variations and trends in hemophilia prevalence: A global analysis with future projection.

PLOS global public health
2026

Exploring Italian nursing staff in anticoagulation clinics: a cluster-based description of current practice, nurse self-efficacy, job satisfaction, and interprofessional collaboration.

Internal and emergency medicine
2026

Single 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 Biology
2026

Monochorionic diamniotic twin brothers with severe hemophilia A: a case report.

Frontiers in pediatrics
2026

Diagnostic challenges and perioperative management of a lateral cystic neck mass in an adult patient with hemophilia B: A case report.

SAGE open medical case reports
2026

Comprehensive 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 Dentistry
2026

Acquired Hemostasis Disorders.

Seminars in thrombosis and hemostasis
2026

National 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 Hemophilia
2026

Haemophilia 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 Hemophilia
2026

Subclinical 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/Hemostasis
2026

A Case of Acquired Hemophilia A Following Robot-Assisted Minimally Invasive Esophagectomy.

Surgical case reports
2026

Platelet dense granule defect: experience in the French population.

Research and practice in thrombosis and haemostasis
2026

A combinatorial CAAR-T cell strategy to eliminate factor VIII inhibitors in preclinical models of hemophilia A.

iScience
2026

Enhanced 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 : JTH
2026

Artificial Intelligence for Automated Detection of Joint Bleeding via Ultrasound in Hemophilia: Advancing Standardization.

Journal of thrombosis and haemostasis : JTH
2026

Ten-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 Hemophilia
2026

Development of a Novel Hemophilia A Mouse Model to Study Emicizumab and Factor VIII Inhibitor Risk.

Blood advances
2026

Effect of Recombinant Tissue-Type Plasminogen Activator on Peripheral Blood Mononuclear Cells of Patients With Alteplase-Associated Angioedema.

Journal of investigational allergology &amp; clinical immunology
2026

Kinesiophobia in Parents of Children with Haemophilia.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2026

Glanzmann thrombasthenia presenting with upper gastrointestinal bleeding: a case series and review of the literature.

Frontiers in medicine
2026

Identification of Missense Variants in the C-domains of Von Willebrand Factor that cause Gain-of-Function-Like Activity.

Blood advances
2026

Discrepancies 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 medicine
2026

Comparative 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/Hemostasis
2026

Current Status of Clinical Gene Therapy for Hemophilia and Globin Disorders.

Journal of blood medicine
2026

COVID-19-Associated Acquired Hemophilia A With an Exceptionally High Inhibitor Titer: A Case of Remission and Overwhelming Sepsis.

Cureus
2026

Optimizing pediatric ITP therapy: a real-world study on plasma concentration-guided eltrombopag dosing.

Annals of hematology
2026

Measurement uncertainty of ISO 17511:2020 compliant and globally standardized PT/INR test results.

Research and practice in thrombosis and haemostasis
2026

Immune Response Associated Hepatotoxicity in Hemophilia Gene Therapy: Mechanisms, Management, and Challenges.

Journal of hematology
2026

Factor 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 Hemophilia
2026

Emicizumab in the treatment of acquired hemophilia A: A Two-Center experience.

Annals of hematology
2026

Implementing 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 Hemophilia
2026

Machine learning estimation of FVIII pharmacokinetic parameters in Chinese children with severe Hemophilia A.

NPJ systems biology and applications
2026

Is marstacimab the next step in personalized and effective haemophilia management?

Expert review of clinical pharmacology
2026

Advancing pilonidal disease care through pediatric endoscopic treatment (PEPSiT): early insights.

Pediatric surgery international
2026

Etranacogene 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 haemostasis
2026

Association of Patient-Reported Outcomes with Hemophilia A Inhibitor Status and Treatment Product Type.

Journal of clinical medicine
2026

From nothing to abundance for hemophilia with inhibitors.

Blood
2026

Managing massive gastrointestinal and abdominal haemorrhage in inherited bleeding disorders: experience from a pediatric cohort.

International journal of hematology
2026

Two decades of prenatal diagnosis in hemophilia A and B: a systematic review of global trends and current practices.

Thrombosis journal
2026

Gut microbiome composition and function reflect socioeconomic deprivation.

NPJ biofilms and microbiomes
2026

Pathogen-Reduce Cryoprecipitate: An Overview of Method(s) in Pathogen Reduction, Transfusion-Transmitted Infection Risk, and Inventory Management Considerations.

Clinics in laboratory medicine
2026

D-Dimer levels during pregnancy and postpartum: non-applicability of regularly used cut-offs for diagnosis of suspected pulmonary embolism.

Archives of gynecology and obstetrics
2026

Understanding Treatment Care and Delays in Acquired Hemophilia A: A Population-Based Study From Nova Scotia, Canada.

EJHaem
2026

Safety, efficacy and patient-reported outcomes 6 years after fidanacogene elaparvovec in adults with hemophilia B.

Blood advances
2026

Beyond a century of discovery: the global and persistent burden of underdiagnosis in von Willebrand disease.

Research and practice in thrombosis and haemostasis
2026

Long-term doctor-patient communication: a patient‑reported perspective from a large Italian survey.

European journal of internal medicine
2026

Factor-VIII mimetic bispecific antibodies for the treatment of hemophilia A: an update.

Expert review of clinical pharmacology
2026

Health Related Quality of Life (HRQoL) and the Factors Affecting it in Children with Hemophilia.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Pharmacokinetics of Factor VIII in Adults with Hemophilia: A 24-Hour Single-Sample Study Focused on Trough Levels.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Exercise Programmes for People With Haemophilia: A Scoping Review.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Exploring gene editing as a potential therapeutic strategy for hemophilia.

Frontiers in bioengineering and biotechnology
2026

Empowering People With Haemophilia: A Mobile Solution for Self-Management.

Healthcare technology letters
2026

Burden of disease in adult patients with hereditary angioedema: results from a multinational survey.

Orphanet journal of rare diseases
2026

An ultra-expansible chitosan-silk fibroin miniaturized sponge loaded with tranexamic acid modified gelatin for coagulation abnormalities.

Carbohydrate polymers
2026

GTH 2026: Connected Science - Advanced Solutions.

Hamostaseologie
2026

A Multifactorial Case of Acquired Hemophilia A.

Cureus
2026

Research Progress on Transitional Care for Hemophilia Patients from Pediatric to Adult Services: Focusing on Disease Severity and Care Continuity.

Journal of blood medicine
2026

Gene therapy in the treatment of hemophilia A: a systematic review and meta-analysis.

Expert review of hematology
2026

Corrigendum 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 haemostasis
2026

Factor VIII in vitro bioequivalence of denecimig (Mim8) hemostatic effect by thrombin generation assays.

Research and practice in thrombosis and haemostasis
2026

Recombinant FVIII Concentrates Show Distinct Stability Profiles During Heat Treatment Prior to Inhibitor Testing.

International journal of laboratory hematology
2026

Thrombin Generation Assays: Possibilities and Limitations.

Hamostaseologie
2026

Immune Response Mechanisms in Haemophilia A.

Hamostaseologie
2026

Gene Therapy of Haemophilia: Current Status and Future Directions.

Hamostaseologie
2026

Severe hemophilia A with inhibitors and pancreatic cancer - when emicizumab is not enough.

Blood transfusion = Trasfusione del sangue
2026

Rare inherited autosomal bleeding disorders in women: sex-related bleeding, pregnancy and delivery. A narrative review.

Blood transfusion = Trasfusione del sangue
2026

Analytical performance of the Roche Elecsys TnT hs Gen 6 immunoassay.

Clinical chemistry and laboratory medicine
2026

Twelve-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 hematology
2026

A chemiluminescent microfluidic thrombin generation assay for real-time monitoring in patient plasma.

Journal of thrombosis and haemostasis : JTH
2026

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.

Journal of translational medicine
2026

Country-level prediction of blood type distribution in hemophilia A in support of factor VIII consumption.

Research and practice in thrombosis and haemostasis
2026

Challenges in Balancing Hemostasis and Thrombosis in Therapy Tailoring for Hemophilia: A Narrative Review.

International journal of molecular sciences
2026

Enhancing Hemophilia A Care Through Home-Based Prophylaxis: Real-World Outcomes of a National Patient Support Program in Mexico.

Journal of clinical medicine
2026

Burden of hereditary angioedema: results from a multinational survey of caregivers for adult and pediatric patients.

Orphanet journal of rare diseases
2026

Postpartum acquired hemophilia presenting as compartment syndrome: a diagnostic challenge in the emergency department.

International journal of emergency medicine
2026

Integrative modeling to improve bleeding risk prediction in adult female hemophilia A carriers.

Journal of thrombosis and haemostasis : JTH
2026

A Revised Classification of FVIII Concentrates: Rationale and Novel Metrics.

Blood advances
2026

FVIII-containing platelets modulate immune responses and attenuate inhibitor development in hemophilia A mice.

Haematologica
2026

The importance of data transformation in correlation analysis of factor VIII and inhibitor titers in acquired hemophilia.

Research and practice in thrombosis and haemostasis
2026

The unforeseen consequence of smart bio-implants for hemophilia: chronic inflammation and antibody development.

Annals of medicine and surgery (2012)
2026

QFitlia (Fitusiran): redefining hemophilia treatment with RNAi therapy. A correspondence.

Annals of medicine and surgery (2012)
2025

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 medicine
2026

Research priorities for pediatric venous thromboembolism prevention: communication from the ISTH SSC Subcommittee on Pediatric and Neonatal Thrombosis and Hemostasis.

Journal of thrombosis and haemostasis : JTH
2026

Clinical 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/Hemostasis
2026

Rhein-modified hemodialysis membranes suppress red blood cell fatigue and thrombosis.

Colloids and surfaces. B, Biointerfaces
2026

Mutations 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 haemostasis
2026

TNF‑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 Hemophilia
2026

Factors contributing to the development of hemophilic arthropathy: A real-world study.

Annals of hematology
2026

A 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 : JTH
2026

Monitoring the Hemostatic Balance: measuring thrombin generation in a patient with acquired hemophilia A on combined pro- and anticoagulant therapy.

Thrombosis research
2026

rFVIIIa-platelet binding enhances platelet procoagulant activity independently of thrombin generation.

Blood vessels, thrombosis &amp; hemostasis
2026

Human 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 : JTH
2026

The 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 : JTH
2026

NXTAGE: a phase 1/2 study of NXT007 to assess safety, pharmacokinetics, and efficacy in hemophilia A without inhibitors.

Blood
2026

A specific FX activator for bleeding treatment in hemophilia with inhibitors: multicenter, open-label, phase I/II trials.

Blood advances
2026

Real-world adherence to and persistence with emicizumab in people with hemophilia A using a national claims database.

Journal of managed care &amp; specialty pharmacy
2026

Factor VIII originates primarily from anatomically distinct subsets of liver sinusoidal endothelial cells.

Blood advances
2026

Vascular Disease Patient Information Page: Hereditary hemorrhagic telangiectasia (HHT).

Vascular medicine (London, England)
2026

Prevalence of hospital readmission, related causes and determinants in older people from 2010 to 2022.

Internal and emergency medicine
2026

Frequency of T Regulatory Cells Subpopulations in Hemophilia A Patients with Inhibitors.

Hamostaseologie
2026

A Case Report on Emergency Medicine: Suspected Acquired Hemophilia A in an Older Adult Male.

Cureus
2026

Augmented 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 haemostasis
2026

Etranacogene dezaparvovec in people with hemophilia B and without adeno-associated virus serotype 5 neutralizing antibodies: a 4-year subgroup analysis of the Health Outcomes with Padua Gene; Evaluation in Hemophilia B (HOPE-B) trial.

Research and practice in thrombosis and haemostasis
2026

Direct oral anticoagulant interference and removal in the factor VIII inhibitor assay.

Research and practice in thrombosis and haemostasis
2026

Translational insights from nonclinical studies of AAV gene therapies for hemophilia: mechanisms underpinning variability and durability of gene expression.

Therapeutic advances in hematology
2026

Corrigendum 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 research
2026

Towards a value-based approach in hemophilia: indications from the FAR-BENE study.

Blood transfusion = Trasfusione del sangue
2026

Evidence-based dental management strategies for individuals with congenital hemophilia: a systematic review.

BMC oral health
2026

Mild 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 research
2026

Investigation 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 Hemophilia
2026

Sleep and Haemophilia-A Case-Control Analysis of Associated Factors.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Lifetime 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 Hemophilia
2026

Hemophilia 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 Hemophilia
2026

Nine areas with outstanding challenges for hemophilia B research.

Therapeutic advances in hematology
2026

Coexistence of two X-linked disorders: hemophilia A and G6PD deficiency.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2026

Complex Triple Deformity of the Knee Managed with Knee Arthrodesis in a Severe Hemophilia A Patient: A Case Report.

JBJS case connector
2026

Treatment of canine hemophilia A via intraosseous delivery of a platelet-specific factor VIII-lentiviral vector.

Blood vessels, thrombosis &amp; hemostasis
2026

Molecular Mechanisms of Factor IX Signal Peptide and Propeptide Mutations Underlying Hemophilia B.

Thrombosis and haemostasis
2026

Efficacy and safety of avapritinib in advanced systemic mastocytosis: 4-year follow-up of the PATHFINDER study.

Blood advances
2025

Case Report: Intracranial hemophilic pseudotumor mimicking an aggressive neoplasm: a rare skull-invasive presentation.

Frontiers in surgery
2026

Extraarticular and Intraarticular Key Lesions in Knee Joints of Adult Persons with Hemophilia-A Case-Control Ultrasound Study.

Hamostaseologie
2026

Acquired Hemophilia A After Neoadjuvant Immunotherapy for Renal Cell Carcinoma.

Rhode Island medical journal (2013)
2026

Building a Comprehensive Sickle Cell Disease Program in Western Kenya: A Decade of Experience and Growth.

Annals of global health
2026

Paediatric 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 haemostasis
2026

Outcomes in participants switching from FVIII replacement therapy to efanesoctocog alfa prophylaxis in XTEND-1: a post hoc analysis.

Therapeutic advances in hematology
2026

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 Hemophilia
2026

Clinical outcomes and health-system challenges in congenital afibrinogenemia: a single-centre prospective case series.

Blood cells, molecules &amp; diseases
2025

Refined target-mediated drug disposition modeling of the anti-tissue factor pathway inhibitor antibody MG1113 in cynomolgus monkeys and rabbits.

Frontiers in pharmacology
2025

Transplanted gene-modified placental cells boost FVIII activity in pediatric sheep without eliciting immunity, toxicity, or adverse events.

Frontiers in immunology
2026

Redefining hemophilia management: treatment goals, nonfactor replacement therapies, and the role of fitusiran.

The American journal of managed care
2026

Feasibility 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 hematology
2026

Central retinal vein occlusion in hemophilia B: between bleeding and thrombosis.

Polish archives of internal medicine
2026

Platelet function abnormalities in acquired hemophilia A.

Research and practice in thrombosis and haemostasis
2026

Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.

Scientific reports
2026

The IL-33 receptor ST2 as a therapeutic target for hemophilic arthropathy.

Expert opinion on therapeutic targets
2026

Liver Transplantation for a Patient With Hemophilia and HIV/HCV Coinfection Complicated by Pulmonary Hypertension.

Hepatology research : the official journal of the Japan Society of Hepatology
2026

Acquired thrombotic thrombocytopenic purpura and HIV infection: a case report and review of the literature.

Annals of hematology
2026

On Factor VIII Assay Discrepancies in Post-infusion Samples Obtained from Patients Treated with Efanesoctocog Alfa.

Hamostaseologie
2026

Factor VII deficiency is more prevalent than previously reported.

Research and practice in thrombosis and haemostasis
2026

Malignancy and gene therapy in hemophilia.

Research and practice in thrombosis and haemostasis
2026

Anti-emicizumab antibodies and their relevance in clinical practice.

Research and practice in thrombosis and haemostasis
2026

Joint tissue plasticity in hemophilia: insights from the Joint Activity and Damage Exam ultrasound protocol.

Research and practice in thrombosis and haemostasis
2026

Interfacility Collaboration for Hemophilia Care in Japan: A Retrospective Database Study Using a Japanese Healthcare Claims Database.

Health science reports
2026

Balancing Promise and Peril: Hemophilia Gene Therapy Insights.

IUBMB life
2026

Bone Health in Adults With Severe Haemophilia Receiving Different Prophylactic Treatments.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Evaluation 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 Hemophilia
2026

Bridging the Gap: Efficacy of Low-Dose Emicizumab in Haemophilia A With or Without Inhibitors.

Haemophilia : the official journal of the World Federation of Hemophilia
2026

Characterization of allogeneic platelet gel from adult donor blood and umbilical cord blood activated with locally prepared cryoprecipitate and thrombin: A pilot exercise.

Transfusion
2026

Reassessing the Evidence and Opportunities Ahead for Pediatric Iron Deficiency Anemia.

The Journal of pediatrics
2025

Genetic predisposition and the role of homocysteine in a female with late diagnosis of autism.

Psychiatric genetics
2025

An Initial Diagnosis of Acquired Hemophilia A in an Elderly Male With a Neck Hematoma.

Cureus
2026

Health care resources and costs associated with delivering gene therapy for hemophilia in clinical practice.

Research and practice in thrombosis and haemostasis
2026

Comparative safety of drug therapies used in hemophilia A and B in Canada: a multi-center, retrospective study.

Research and practice in thrombosis and haemostasis
2026

From Hip Effusion to Hemophilia: Unveiling the Cause of Pain in 6-Month-Old Infant. A Case Report.

Journal of orthopaedic case reports
2026

IL-15 overexpression promotes memory program and anti-tumor activity of CD64 CAR T cells in a preclinical AML model.

Communications biology
2026

How Do Muscles Protect Joints in Hemophilia? Integrating Mechanical, Neural, and Endocrine Mechanisms.

Seminars in thrombosis and hemostasis
2026

Emicizumab in Acquired Hemophilia A: A Real-World Case Series with Patient-Level Outcome Analysis.

Seminars in thrombosis and hemostasis
2026

Genetic regulation of fatty acid content in adipose tissue.

American journal of human genetics
2026

Performance of Factor VIII Extended Half-Life Product Measurements in External Quality Assessment Programmes.

International journal of laboratory hematology
2026

Plain 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 haematology
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Doenças relacionadas

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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.

  1. Managing heavy menstrual bleeding in adolescents with bleeding disorders: Outcomes from a pragmatic LMIC approach.
    Blood cells, molecules &amp; diseases· 2026· PMID 41864004mais citado
  2. Gene Therapy for Hemophilia: Innovations, Milestones, and Future Prospects.
    Current gene therapy· 2026· PMID 41863244mais citado
  3. Intracranial hemorrhage in patients with primary brain cancer receiving anticoagulation.
    Blood vessels, thrombosis &amp; hemostasis· 2026· PMID 41852714mais citado
  4. 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 &amp; fibrinolysis : an international journal in haemostasis and thrombosis· 2026· PMID 41846404mais citado
  5. [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 pediatrics· 2026· PMID 41834202mais citado
  6. Acquired Hemophilia A During Prasugrel Therapy After Recurrent Acute Coronary Syndrome.
    JACC Case Rep· 2026· PMID 41989370recente
  7. Evaluation of Access to Care for Women Carriers of Haemophilia in Haemophilia Treatment Centres: A Multinational Experience.
    Haemophilia· 2026· PMID 41989008recente
  8. FVIIIa Mimetics: New Approaches and Next-Generation Initiatives.
    Haemophilia· 2026· PMID 41988951recente
  9. Deep learning for pediatric synovial recess distension detection in hemophilia: synthetic image augmentation with styleGAN2-ADA.
    Int J Comput Assist Radiol Surg· 2026· PMID 41986781recente
  10. A Jehovah's Witness with Acquired Hemophilia A Who Successfully Avoided Blood Transfusions by Receiving Emicizumab.
    Transfus Med Hemother· 2026· PMID 41982273recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:448(Orphanet)
  2. MONDO:0018660(MONDO)
  3. Hemofilia Hereditaria(PCDT · Ministério da Saúde)
  4. GARD:10418(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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

Hemofilia
Compêndio · Raras BR

Hemofilia

ORPHA:448 · MONDO:0018660
🇧🇷 Brasil SUS
CEAF
1AFator VIII recombinanteFator IX recombinanteEmicizumabe
Geral
Prevalência
1-9 / 100 000
Herança
X-linked recessive
CID-10
D66 · Deficiência hereditária do fator VIII
Ensaios
36 ativos
Medicamentos
13 registrados
Início
Antenatal, Infancy, Neonatal
Prevalência
7.7 (Europe)
MedGen
UMLS
C0684275
Repurposing
1 candidato
tranexamic-acidantifibrinolytic|plasminogen activator inhibitor
Wikidata
Wikipedia
Papers 10a
Evidência
🥇 Ensaio rand.
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