Pular para o conteúdo
Hemofilia A leve
ORPHA:169808CID-10 · D66CID-11 · 3B10.0DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
Início neonatalHerança XL
Sinônimos clínicos: Deficiência congénita ligeira de factor VIII · Deficiência congénita ligeira de F8

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.

Última verificação: Fonte: verificadoEm construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

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.

📋
Informacoes curadas por IA — podem conter imprecisoes

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.

Publicações científicas
229 artigos
Último publicado: 2025 Dec 10
Medicamentos
2 com registro
Fator VIII, Emicizumabe (Hemlibra)

Tem tratamento?

✓ 2 medicamentos específicos desta doença
Ver detalhes, fases e interações →
FATOR VIIIEMICIZUMABE (HEMLIBRA)
🏥
SUS: Cobertura parcialScore: 70%
2 procedimentos SIGTAPCID-10: D66
🇧🇷Dados SUS / DATASUS2024
6.780
internações/ano
R$ 12.450
custo médio/internação
ESTADOS COM MAIS INTERNAÇÕES
SPRJMGBARS
EXAMES E PROCEDIMENTOS RELACIONADOS (2)
•
Infusão de fator VIII (Hemofilia A)
•
Emicizumabe (Hemofilia A — Hemlibra)
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico229PubMed
Últimos 10 anos89publicações
Pico202217 papers
Linha do tempo
2026Hoje · 2026📈 2022Ano de pico
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

1 gene identificado com associação a esta condição.

X-linked recessive
F8Coagulation factor VIIIDisease-causing germline mutation(s) inAltamente restrito
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

Variantes genéticas (ClinVar)

1.066 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 2 variantes classificadas pelo ClinVar.

2
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
F8: NM_000132.4(F8):c.2113+461_2113+473del [Pathogenic]
F8: NM_000132.4(F8):c.1648C>T (p.Arg550Cys) [Pathogenic/Likely 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

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Carga SUS por estado
Internações SUS por estado · DATASUS 2024
Total/ano6.130
Estado com maior volumeSP (1.890)
Estados com registro10

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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
90 papers (10 anos)
#1

Efanesoctocog Alfa Prophylaxis in a Patient With Combined Mild Hemophilia A and Type 1 von Willebrand Disease.

Pediatric blood & cancer2026 Jan
#2

A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 Variant.

International journal of molecular sciences2025 Dec 10

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.

#3

Real-World Evidence on Joint Condition in Non-Severe Hemophilia A Patients: A Multicenter Study.

Journal of blood medicine2025

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.

#4

Coincidental occurrence of severe factor XII deficiency in a case of mild hemophilia A: a unique coagulation laboratory diagnostic conundrum.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis2025 Apr 01

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.

#5

Safe Outpatient Dental Management of a Pediatric Patient With Mild Hemophilia A: A Case Report.

Cureus2025 Nov

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

Ver todas no PubMed

📚 EuropePMC148 artigos no totalmostrando 89

2025

A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 Variant.

International journal of molecular sciences
2025

High 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 Medicine
2025

Safe Outpatient Dental Management of a Pediatric Patient With Mild Hemophilia A: A Case Report.

Cureus
2025

Hemophilic Pseudotumor of the Maxilla Secondary to Endodontic Treatment: Case Report and Systematic Review.

Dentistry journal
2026

Efanesoctocog Alfa Prophylaxis in a Patient With Combined Mild Hemophilia A and Type 1 von Willebrand Disease.

Pediatric blood &amp; cancer
2025

Recurrent Subdural Hematoma Revealing Undiagnosed Mild Hemophilia A and Factor XIII Deficiency in an Elderly Patient.

Cureus
2025

Genetic determinants of the complement and coagulation pathways in invasive meningococcal disease.

The Journal of allergy and clinical immunology
2025

Advantages 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 reports
2025

Real-World Evidence on Joint Condition in Non-Severe Hemophilia A Patients: A Multicenter Study.

Journal of blood medicine
2025

Coincidental occurrence of severe factor XII deficiency in a case of mild hemophilia A: a unique coagulation laboratory diagnostic conundrum.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2025

Immune tolerance induction for inhibitor eradication in nonsevere hemophilia A: a case series.

Research and practice in thrombosis and haemostasis
2025

Structural Conformation and the Binding of Factor VIII R2159C (FVIII-Ise) Mutated in the C1 Domain to Phospholipid.

Thrombosis and haemostasis
2025

Extending health equity to people with moderate and mild hemophilia A: revisiting the HAVEN 6 trial.

Research and practice in thrombosis and haemostasis
2024

Perioperative management of hemophilia A during coronary artery bypass grafting with patent foramen ovale repair.

Journal of surgical case reports
2024

Genotype-Dependent Response to Desmopressin in Hemophilia A and Proposal of a Predictive Response Score.

Thrombosis and haemostasis
2024

Bleeding Disorder of Unknown Cause: A Diagnosis of Exclusion.

Hamostaseologie
2023

Emicizumab use in females with moderate or mild hemophilia A without factor VIII inhibitors who warrant prophylaxis.

Research and practice in thrombosis and haemostasis
2023

A Case of Congenital Mild Hemophilia Diagnosed After Wisdom Teeth Extraction.

Yonago acta medica
2023

Minimum factor VIII levels to prevent joint bleeding in mild hemophilia A.

Blood advances
2023

Functional determination of emicizumab in presence of factor VIII activity.

Journal of thrombosis and haemostasis : JTH
2023

Clinical pharmacology of emicizumab for the treatment of hemophilia A.

Expert review of clinical pharmacology
2023

Cost-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 hematology
2023

Managing Relevant Clinical Conditions of Hemophilia A/B Patients.

Hematology reports
2023

Surgical treatment of a distal radius and ipsilateral metacarpal hemophilic pseudotumor without recurrence or functional deficit: a case report.

Frontiers in pediatrics
2023

Parapharyngeal hematoma following transesophageal echo in a patient with hemophilia A.

Clinical case reports
2023

Treatment changes in hemophilia A with chromogenic factor VIII assay implementation.

Research and practice in thrombosis and haemostasis
2023

Both one-stage and chromogenic factor VIII assays are required for the diagnosis of mild hemophilia A.

Journal of thrombosis and haemostasis : JTH
2023

F8/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 haemostasis
2023

Little 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 : JTH
2023

Desmopressin as a hemostatic and blood sparing agent in bleeding disorders.

European journal of haematology
2022

Esophageal ulcer associated with mild hemophilia A: case report.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2023

Factor VIII and Factor IX Activity Measurements for Hemophilia Diagnosis and Related Treatments.

Seminars in thrombosis and hemostasis
2022

Phenotypic variation in severe hemophilia A is related to endogenous thrombin potential and plasma levels of factor VII.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2022

[Spontaneous disappearance of the inhibitor during emicizumab therapy in a patient with mild hemophilia A].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2023

The von Willebrand factor-binding aptamer rondaptivon pegol as a treatment for severe and nonsevere hemophilia A.

Blood
2022

Desmopressin revisited in mild hemophilia A.

Blood
2022

Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report.

Molecular cytogenetics
2022

Moderate-intensity aerobic exercise vs desmopressin in adolescent males with mild hemophilia A: a randomized trial.

Blood
2022

The bleeding phenotype in people with nonsevere hemophilia.

Blood advances
2022

Next-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 journal
2022

Management 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 &amp; 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 Obstetricians
2022

Uncontrollable bleeding after tooth extraction from asymptomatic mild hemophilia patients: two case reports.

BMC oral health
2022

Desmopressin therapy in children and adults: pharmacological considerations and clinical implications.

European journal of clinical pharmacology
2022

Comparisons of global coagulation potential and bleeding episodes in emicizumab-treated hemophilia A patients and mild hemophilia A patients.

International journal of hematology
2022

Silent variant in F8:c.222G>T (p.Thr74Thr) causes a partial exon skipping in a patient with mild hemophilia A.

Molecular genetics &amp; genomic medicine
2022

Invisible bleeds: Lived experiences and barriers to care for men with hemophilia.

Journal of thrombosis and haemostasis : JTH
2022

A founder effect in hemophilia A patients from Russian Ural region with a new p.(His634Arg) variant in F8 gene.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2021

[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 hematology
2022

Delayed Bleeding in a Hemophilic Patient After Sinus Floor Elevation and Multiple Implant Placements: A Case Report.

The Journal of oral implantology
2021

Tamoxifen Therapy for Recurrent Mucosal Bleeding in Hereditary Hemorrhagic Telangiectasia.

Journal of hematology
2022

ABO 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 organs
2021

Comparative analysis of chromogenic vs clot.based one stage APTT assay for determination of factor VIII level.

Indian journal of pathology &amp; microbiology
2021

Major orthopedic surgery in a patient with fibromuscular dysplasia in the right renal artery and mild hemophilia A: First case reported.

Medicina clinica
2020

Deep intronic F8 c.5999-27A>G variant causes exon 19 skipping and leads to moderate hemophilia A.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2020

Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing.

Thrombosis research
2020

Deep Brain Stimulation Surgery for Essential Tremor in a Patient with Type A Hemophilia.

World neurosurgery
2020

The 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 : JTH
2020

Molecular Mechanisms of Inhibitor Development in Hemophilia.

Mediterranean journal of hematology and infectious diseases
2019

Hemophilia A with a Rare Presentation of Hemarthrosis and Arthropathy Involving Multiple Joints in a Young Male Child.

Cureus
2019

[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 hematology
2019

Deep 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 haematology
2018

The 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 Haemapheresis
2018

The definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH.

Journal of thrombosis and haemostasis : JTH
2018

Dental extractions in patients with mild hemophilia A and hemophilia B and von Willebrand disease without clotting factor supplementation.

Polish archives of internal medicine
2018

Bilateral Forearm Pseudotumors in an Adult with Hemophilia A and Ollier Disease: A Case Report.

JBJS case connector
2018

A novel type 2N VWF gene mutation: a case report.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2018

Development of an FVIII Inhibitor in a Mild Hemophilia Patient with a Phe595Cys Mutation.

Internal medicine (Tokyo, Japan)
2018

B6 and Bleeding: A Case Report of a Novel Vitamin Toxicity.

Pediatrics
2018

Successful Surgical Removal of A Massive Iliopsoas Pseudotumor in a Boy With Mild Hemophilia A.

Klinische Padiatrie
2018

Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.

American journal of human genetics
2017

[Study of gene mutation in 62 hemophilia A children].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2017

Mild hemophilia A presaged by recurrent postoperative hemorrhagic complications in an elderly patient.

Surgical neurology international
2017

Revesz syndrome masquerading as traumatic retinal detachment.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2017

Chromogenic Factor VIII Assays for Improved Diagnosis of Hemophilia A.

Methods in molecular biology (Clifton, N.J.)
2017

Cross-reacting Material-positive Hemophilia A Diagnosed in a Patient with a Spontaneous Thigh Hemorrhage.

Internal medicine (Tokyo, Japan)
2017

Pitfalls in Interventional Pain Medicine: Hyponatremia after DDAVP for a Patient with Von Willebrand Disease Undergoing an Epidural Steroid Injection.

Case reports in anesthesiology
2017

Nasal hemophilic pseudotumor in a patient with mild hemophilia A and allergic rhinitis.

Pediatrics international : official journal of the Japan Pediatric Society
2016

Diagnosing von Willebrand disease: genetic analysis.

Hematology. American Society of Hematology. Education Program
2016

Combined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants.

Journal of thrombosis and haemostasis : JTH
2016

Emerging Issues in Diagnosis, Biology, and Inhibitor Risk in Mild Hemophilia A.

Seminars in thrombosis and hemostasis
2016

Patients Referred for Bleeding Symptoms of Unknown Cause: Does Evaluation of Thrombin Generation Contribute to Diagnosis?

Mediterranean journal of hematology and infectious diseases
2015

Costs and utilization of treatment in patients with hemophilia.

BMC health services research
2015

[Mild hemophilia A fortuitously discovered during Henoch-Schönlein purpura].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2015

Mild 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 : JTH
2015

Diagnostic evaluation of our patients with hemophilia A: 17-year experience.

Turk pediatri arsivi
2015

Prevalence of IVS10nt-18G/A in Calabrian patients with moderate/mild hemophilia A and relation with Factor VIII inhibitor antibodies.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2015

Assessment of Musculoskeletal Function and its Correlation with Radiological Joint Score in Children with Hemophilia A.

Indian journal of pediatrics
2015

Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?

Thrombosis research
2016

Surgical Treatment of Intra-articular Knee Venous Malformations: When and How?

Journal of pediatric orthopedics
Ver todos os 148 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Hemofilia A leve.

É de uma associação que acompanha esta doença? Fale com a gente →

Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Hemofilia A leve e no aconselhamento genético da família.

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

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

Protocolo oficial relacionado (Ministério da Saúde)Protocolo de Uso: Hemofilia A e B

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.

Respostas geradas por IA a partir das fontes citadas

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.

  1. ORPHA:169808
    Orphanet
  2. GARD:17061
    GARD (NIH)
  3. Q55785671
    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.

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

Compêndio · Raras BR

Hemofilia A leve

ORPHA:169808 · MONDO:0015721
🇧🇷 Brasil SUS
Internações
6.780/ano
Prevalência BR
1:5000 (homens)
Custo SUS
R$ 12.450/internação
SIGTAP
2 procedimentos
Dados
DATASUS 2024
Geral
CID-10
D66 · Deficiência hereditária do fator VIII
CID-11
Início
Infancy, Neonatal
MedGen
UMLS
C0272324
Repurposing
1 candidato
tranexamic-acid — antifibrinolytic|plasminogen activator inhibitor
EuropePMC
Wikidata
Papers 10a

📋 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
Dado público estruturado
fonte: Wikidata
Rara