A hemofilia A leve é uma forma de hemofilia A caracterizada por uma pequena deficiência de fator VIII, levando a sangramento anormal como resultado de ferimentos leves ou após cirurgia ou extração dentária.
Introdução
O que você precisa saber de cara
A **hemofilia A leve** é uma condição genética caracterizada por uma deficiência pequena do fator VIII, uma proteína essencial para coagular o sangue. Ao contrário de formas mais graves, a pessoa com esta condição geralmente não apresenta sangramentos espontâneos frequentes, mas pode sangrar de forma prolongada após cortes leves, cirurgias ou extrações nos dentes. O Ministério da Saúde possui protocolos específicos para hemofilia, e o SUS dispensa tratamentos de alto custo como o emicizumabe para casos de hemofilia A moderada e grave que desenvolveram inibidores. Por isso, é fundamental que o paciente tenha diagnóstico confirmado e acompanhe suas necessidades preventivas antes de qualquer intervenção cirúrgica.
A hemofilia A leve é uma forma de hemofilia A caracterizada por uma pequena deficiência de fator VIII, levando a sangramento anormal como resultado de ferimentos leves ou após cirurgia ou extração dentária.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição.
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.
Variantes genéticas (ClinVar)
1.066 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 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)
Dado oficial do SIH/SUS · Volume por estado de residência do paciente.
🇧🇷 Atendimento SUS — Hemofilia A leve
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Efanesoctocog Alfa Prophylaxis in a Patient With Combined Mild Hemophilia A and Type 1 von Willebrand Disease.
A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 Variant.
Hemophilia A (HA) is an X-linked recessive bleeding disorder that predominantly affects males but rarely manifests clinically in females. We report an unusual case of a woman with HA carrying a de novo heterozygous F8 variant, skewed X chromosome inactivation (XCI), and mosaic monosomy X without the Turner syndrome phenotype. DNA was extracted from whole blood. After excluding F8 inversions and large rearrangements, Sanger sequencing of coding regions was performed. XCI was assessed by STR analysis of the AR gene. Haplotypes were identified by fragment analysis of three polymorphic sites. Karyotyping was performed using G-banding. A heterozygous missense variant in the F8 gene, c.6545G>A (p.Arg2182His), was detected with allelic imbalance. STR analysis confirmed ~93% skewed XCI. Karyotyping revealed mosaicism: 45,X [7]/46,XX [14]. Neither parent carried the c.6545G>A variant or karyotype aberrations. We suggest that 46,XX cells carried c.6545G/A with preferential inactivation of the normal X chromosome, whereas 45,X0 cells carried the mutant allele only. The limited proportion of active normal X chromosomes led to a mild rather than severe phenotype. This case highlights complex genetic mechanisms underlying HA in females and underscores the importance of comprehensive molecular and cytogenetic testing for accurate diagnosis, clinical management, and genetic counseling.
Real-World Evidence on Joint Condition in Non-Severe Hemophilia A Patients: A Multicenter Study.
Patients with non-severe hemophilia A (PwnSHA) may be at risk for joint damage (JD), yet data remain scarce. Our aim was to evaluate the joint condition in PwnSHA in a real-world setting. A nationwide, multicenter, cross-sectional study was conducted. To mitigate the impact of discrepancies between factor VIII (FVIII) assays, baseline FVIII levels were determined using chromogenic and one-step clotting assays. Mutation in F8 gene, baseline FVIII levels, thrombin generation and age were assessed. The joint condition was described using the HEAD-US score by trained specialists at each participating hospital. One hundred and twenty-four patients were recruited, 84 of them with an available HEAD-US evaluation, who were finally included in our analysis. The median age was 38.4 years (18.3-48.5). Twenty percent (16/84) had moderate hemophilia (MoH) with FVIII levels of 4.0 IU/dL (2.6-4.6), and 80% (68/84) had mild hemophilia (MiH) with FVIII levels of 14.8 IU/dL (10.4-19.9), (p< 0.001). JD (HEAD-US>0) was observed in 50% (8/16) of MoH patients (HEAD-US= 6.5 [5.5-8.5]) and in 40% (27/68) of those with MiH (HEAD-US= 3.0 [2.0-6.5]), p=0.198. In the moderate group, JD was primarily observed in ankles (44%), while in the MiH group, knees were the most affected (31%). MoH patients reported a hypocoagulable thrombin generation profile compared to MiH patients (p<0.05). Near half of PwnSHA had JD. A worse joint health and a lower thrombin generation was observed in MoH population. These patients can benefit from an early prophylaxis and prevent further joint deterioration. Future research should explore additional variables that might influence joint condition.
Coincidental occurrence of severe factor XII deficiency in a case of mild hemophilia A: a unique coagulation laboratory diagnostic conundrum.
We present a unique case of severe factor XII (FXII) deficiency in a mild hemophilia A patient. The co-occurrence of these two inherited coagulation disorders poses laboratory diagnostic challenges. We discuss the clinical presentation, laboratory findings, and molecular characterization of this unique case.
Safe Outpatient Dental Management of a Pediatric Patient With Mild Hemophilia A: A Case Report.
Dental care in children with mild hemophilia A requires coordinated planning to prevent bleeding complications. An 11-year-old girl diagnosed recently with mild hemophilia A (factor VIII activity 46%) was referred for comprehensive dental care. Multidisciplinary planning with her pediatric hematologist was undertaken. One hour before multiple extractions (#55, #53, #65, #75 and a mesiodens), she received 1,000 IU of factor VIII. Extractions were completed using topical anesthesia for mobile primary teeth and limited lidocaine with epinephrine infiltration when needed, with local hemostasis achieved by gauze compression; no complications occurred. Subsequent restorative care included resin restorations (#21, #36, #12) and pit-and-fissure sealants (#46, #16, #26) during scheduled visits. The patient healed uneventfully and continued routine follow-up. In mild hemophilia A, individualized planning, pre-procedure factor replacement for invasive care, preference for infiltration techniques, and meticulous local hemostasis allow safe outpatient dental management.
Publicações recentes
A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 Variant.
High Prevalence of Heterotopic Ossification in Mild Hemophilia: A Biological Inevitability or a Prophylactic Blind Spot?
Safe Outpatient Dental Management of a Pediatric Patient With Mild Hemophilia A: A Case Report.
Hemophilic Pseudotumor of the Maxilla Secondary to Endodontic Treatment: Case Report and Systematic Review.
Efanesoctocog Alfa Prophylaxis in a Patient With Combined Mild Hemophilia A and Type 1 von Willebrand Disease.
📚 EuropePMC148 artigos no totalmostrando 89
A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 Variant.
International journal of molecular sciencesHigh 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 MedicineSafe Outpatient Dental Management of a Pediatric Patient With Mild Hemophilia A: A Case Report.
CureusHemophilic Pseudotumor of the Maxilla Secondary to Endodontic Treatment: Case Report and Systematic Review.
Dentistry journalEfanesoctocog Alfa Prophylaxis in a Patient With Combined Mild Hemophilia A and Type 1 von Willebrand Disease.
Pediatric blood & cancerRecurrent Subdural Hematoma Revealing Undiagnosed Mild Hemophilia A and Factor XIII Deficiency in an Elderly Patient.
CureusGenetic determinants of the complement and coagulation pathways in invasive meningococcal disease.
The Journal of allergy and clinical immunologyAdvantages of FVIII-Extended Half-Life (Turoctocog Alfa Pegol) in the Management of Cardiac Surgery in a Patient with Mild Hemophilia A: A Case Report and Literature Review.
Hematology reportsReal-World Evidence on Joint Condition in Non-Severe Hemophilia A Patients: A Multicenter Study.
Journal of blood medicineCoincidental occurrence of severe factor XII deficiency in a case of mild hemophilia A: a unique coagulation laboratory diagnostic conundrum.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisImmune tolerance induction for inhibitor eradication in nonsevere hemophilia A: a case series.
Research and practice in thrombosis and haemostasisStructural Conformation and the Binding of Factor VIII R2159C (FVIII-Ise) Mutated in the C1 Domain to Phospholipid.
Thrombosis and haemostasisExtending health equity to people with moderate and mild hemophilia A: revisiting the HAVEN 6 trial.
Research and practice in thrombosis and haemostasisPerioperative management of hemophilia A during coronary artery bypass grafting with patent foramen ovale repair.
Journal of surgical case reportsGenotype-Dependent Response to Desmopressin in Hemophilia A and Proposal of a Predictive Response Score.
Thrombosis and haemostasisBleeding Disorder of Unknown Cause: A Diagnosis of Exclusion.
HamostaseologieEmicizumab use in females with moderate or mild hemophilia A without factor VIII inhibitors who warrant prophylaxis.
Research and practice in thrombosis and haemostasisA Case of Congenital Mild Hemophilia Diagnosed After Wisdom Teeth Extraction.
Yonago acta medicaMinimum factor VIII levels to prevent joint bleeding in mild hemophilia A.
Blood advancesFunctional determination of emicizumab in presence of factor VIII activity.
Journal of thrombosis and haemostasis : JTHClinical pharmacology of emicizumab for the treatment of hemophilia A.
Expert review of clinical pharmacologyCost-effectiveness of prophylactic emicizumab versus prophylactic recombinant factor VIII in patients with moderate or mild hemophilia A without inhibitors in the United States.
American journal of hematologyManaging Relevant Clinical Conditions of Hemophilia A/B Patients.
Hematology reportsSurgical treatment of a distal radius and ipsilateral metacarpal hemophilic pseudotumor without recurrence or functional deficit: a case report.
Frontiers in pediatricsParapharyngeal hematoma following transesophageal echo in a patient with hemophilia A.
Clinical case reportsTreatment changes in hemophilia A with chromogenic factor VIII assay implementation.
Research and practice in thrombosis and haemostasisBoth one-stage and chromogenic factor VIII assays are required for the diagnosis of mild hemophilia A.
Journal of thrombosis and haemostasis : JTHF8/F9 variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia and Allied Disorders and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project.
Research and practice in thrombosis and haemostasisLittle discrepancy between one-stage and chromogenic factor VIII (FVIII)/IX assays in a large international cohort of persons with nonsevere hemophilia A and B.
Journal of thrombosis and haemostasis : JTHDesmopressin as a hemostatic and blood sparing agent in bleeding disorders.
European journal of haematologyEsophageal ulcer associated with mild hemophilia A: case report.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieFactor VIII and Factor IX Activity Measurements for Hemophilia Diagnosis and Related Treatments.
Seminars in thrombosis and hemostasisPhenotypic variation in severe hemophilia A is related to endogenous thrombin potential and plasma levels of factor VII.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis[Spontaneous disappearance of the inhibitor during emicizumab therapy in a patient with mild hemophilia A].
[Rinsho ketsueki] The Japanese journal of clinical hematologyThe von Willebrand factor-binding aptamer rondaptivon pegol as a treatment for severe and nonsevere hemophilia A.
BloodDesmopressin revisited in mild hemophilia A.
BloodClinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report.
Molecular cytogeneticsModerate-intensity aerobic exercise vs desmopressin in adolescent males with mild hemophilia A: a randomized trial.
BloodThe bleeding phenotype in people with nonsevere hemophilia.
Blood advancesNext-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.
Croatian medical journalManagement and outcomes of mild hemophiliacs and hemophilia carriers during pregnancy and peripartum period: a hemophilia treatment center experience in the United States.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansUncontrollable bleeding after tooth extraction from asymptomatic mild hemophilia patients: two case reports.
BMC oral healthDesmopressin therapy in children and adults: pharmacological considerations and clinical implications.
European journal of clinical pharmacologyComparisons of global coagulation potential and bleeding episodes in emicizumab-treated hemophilia A patients and mild hemophilia A patients.
International journal of hematologySilent variant in F8:c.222G>T (p.Thr74Thr) causes a partial exon skipping in a patient with mild hemophilia A.
Molecular genetics & genomic medicineInvisible bleeds: Lived experiences and barriers to care for men with hemophilia.
Journal of thrombosis and haemostasis : JTHA founder effect in hemophilia A patients from Russian Ural region with a new p.(His634Arg) variant in F8 gene.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis[Risk factors of inhibitor development among hemophilia patients revealed in a 10-year prospective cohort study in Japan, J-HIS2 (Japan Hemophilia Inhibitor Study 2)].
[Rinsho ketsueki] The Japanese journal of clinical hematologyDelayed Bleeding in a Hemophilic Patient After Sinus Floor Elevation and Multiple Implant Placements: A Case Report.
The Journal of oral implantologyTamoxifen Therapy for Recurrent Mucosal Bleeding in Hereditary Hemorrhagic Telangiectasia.
Journal of hematologyABO incompatibility and mild factor VIII deficiency in the neonate: Not too much of a problem but a challenge on ECMO.
The International journal of artificial organsComparative analysis of chromogenic vs clot.based one stage APTT assay for determination of factor VIII level.
Indian journal of pathology & microbiologyMajor orthopedic surgery in a patient with fibromuscular dysplasia in the right renal artery and mild hemophilia A: First case reported.
Medicina clinicaDeep intronic F8 c.5999-27A>G variant causes exon 19 skipping and leads to moderate hemophilia A.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisInvestigation of discordant phenotype in mild Hemophilia A using whole exome sequencing.
Thrombosis researchDeep Brain Stimulation Surgery for Essential Tremor in a Patient with Type A Hemophilia.
World neurosurgeryThe highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events.
Journal of thrombosis and haemostasis : JTHMolecular Mechanisms of Inhibitor Development in Hemophilia.
Mediterranean journal of hematology and infectious diseasesHemophilia A with a Rare Presentation of Hemarthrosis and Arthropathy Involving Multiple Joints in a Young Male Child.
Cureus[Mild hemophilia A diagnosed in an adult patient on the occasion of post-operative bleeding following a second knee surgery].
[Rinsho ketsueki] The Japanese journal of clinical hematologyDeep intronic variant c.5999-277G>A of F8 gene may be a hot spot mutation for mild hemophilia A patients without mutation in exonic DNA.
European journal of haematologyThe unusual pattern of hereditary bleeding disorders in the province of Newfoundland and Labrador-Canada's most Eastern Province.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisThe definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH.
Journal of thrombosis and haemostasis : JTHDental extractions in patients with mild hemophilia A and hemophilia B and von Willebrand disease without clotting factor supplementation.
Polish archives of internal medicineBilateral Forearm Pseudotumors in an Adult with Hemophilia A and Ollier Disease: A Case Report.
JBJS case connectorA novel type 2N VWF gene mutation: a case report.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisDevelopment of an FVIII Inhibitor in a Mild Hemophilia Patient with a Phe595Cys Mutation.
Internal medicine (Tokyo, Japan)B6 and Bleeding: A Case Report of a Novel Vitamin Toxicity.
PediatricsSuccessful Surgical Removal of A Massive Iliopsoas Pseudotumor in a Boy With Mild Hemophilia A.
Klinische PadiatrieReccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.
American journal of human genetics[Study of gene mutation in 62 hemophilia A children].
Zhonghua er ke za zhi = Chinese journal of pediatricsMild hemophilia A presaged by recurrent postoperative hemorrhagic complications in an elderly patient.
Surgical neurology internationalRevesz syndrome masquerading as traumatic retinal detachment.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusChromogenic Factor VIII Assays for Improved Diagnosis of Hemophilia A.
Methods in molecular biology (Clifton, N.J.)Cross-reacting Material-positive Hemophilia A Diagnosed in a Patient with a Spontaneous Thigh Hemorrhage.
Internal medicine (Tokyo, Japan)Pitfalls in Interventional Pain Medicine: Hyponatremia after DDAVP for a Patient with Von Willebrand Disease Undergoing an Epidural Steroid Injection.
Case reports in anesthesiologyNasal hemophilic pseudotumor in a patient with mild hemophilia A and allergic rhinitis.
Pediatrics international : official journal of the Japan Pediatric SocietyDiagnosing von Willebrand disease: genetic analysis.
Hematology. American Society of Hematology. Education ProgramCombined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants.
Journal of thrombosis and haemostasis : JTHEmerging Issues in Diagnosis, Biology, and Inhibitor Risk in Mild Hemophilia A.
Seminars in thrombosis and hemostasisPatients Referred for Bleeding Symptoms of Unknown Cause: Does Evaluation of Thrombin Generation Contribute to Diagnosis?
Mediterranean journal of hematology and infectious diseasesCosts and utilization of treatment in patients with hemophilia.
BMC health services research[Mild hemophilia A fortuitously discovered during Henoch-Schönlein purpura].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieMild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity.
Journal of thrombosis and haemostasis : JTHDiagnostic evaluation of our patients with hemophilia A: 17-year experience.
Turk pediatri arsiviPrevalence of IVS10nt-18G/A in Calabrian patients with moderate/mild hemophilia A and relation with Factor VIII inhibitor antibodies.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisAssessment of Musculoskeletal Function and its Correlation with Radiological Joint Score in Children with Hemophilia A.
Indian journal of pediatricsOverrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?
Thrombosis researchSurgical Treatment of Intra-articular Knee Venous Malformations: When and How?
Journal of pediatric orthopedicsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Hemofilia A leve.
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Hemofilia A leve e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Existe um documento oficial para "Hemofilia A e B". Ele pode não cobrir esta forma específica da doença — confira no texto do protocolo antes de contar com ele.
A condição é definida por uma discreta deficiência de fator VIII da coagulação. Isso resulta em sangramentos anormais decorrentes de traumas leves, cirurgias ou procedimentos odontológicos.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
7 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Hemofilia A leve. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/hemofilia-a-leve
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Hemofilia A leve
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
- Reposicionamento
- fonte: Drug Repurposing Hub