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Doença hemorrágica em portador hemofilia B
ORPHA:177929CID-10 · D67CID-11 · 3B11.0DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
Herança XL

Forma de hemofilia B (ver este termo) que se manifesta em algumas mulheres com mutações no gene F9 (Xq28), que codifica o factor IX de coagulação.

Última verificação: Fonte: sem afirmação sobre o SUS a verificarEm construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A **doença hemorrágica em portador hemofilia B** é uma condição rara em que mulheres portadoras de alterações genéticas no gene F9 apresentam tendência a sangramentos. Nessas mulheres, a quantidade do fator IX de coagulação no sangue pode ser menor do que o habitual, facilitando perdas sanguíneas anormais. Os episódios podem se tornar perceptíveis durante fluxos menstruais intensos, procedimentos cirúrgicos ou no momento do parto. No Brasil, o SUS prevê em sua rede o procedimento de infusão de fator IX para o controle de sangramentos na hemofilia B.

📋
Informacoes curadas por IA — podem conter imprecisoes

Forma de hemofilia B (ver este termo) que se manifesta em algumas mulheres com mutações no gene F9 (Xq28), que codifica o factor IX de coagulação.

Medicamentos
1 com registro
Fator IX

Tem tratamento?

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FATOR IX

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Herança
X-linked recessive
🏥
SUS: Cobertura mínimaScore: 65%
1 procedimentos SIGTAPCID-10: D67
🇧🇷Dados SUS / DATASUS
EXAMES E PROCEDIMENTOS RELACIONADOS (1)
•
Infusão de fator IX (Hemofilia B)
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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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos85publicações
Pico202015 papers
Linha do tempo
2026Hoje · 2026📈 2020Ano 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. Padrão de herança: X-linked recessive.

F9Coagulation factor IXDisease-causing germline mutation(s) inAltamente restrito
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

Variantes genéticas (ClinVar)

533 variantes patogênicas registradas no ClinVar.

🧬 F9: GRCh38/hg38 Xq26.3-28(chrX:137491159-155700385)x2 ()
🧬 F9: NM_000133.4(F9):c.839G>C (p.Gly280Ala) ()
🧬 F9: NM_000133.4(F9):c.1136G>T (p.Arg379Leu) ()
🧬 F9: NM_000133.4(F9):c.945C>A (p.Asp315Glu) ()
🧬 F9: NM_000133.4(F9):c.808G>T (p.Glu270Ter) ()
Ver todas no ClinVar

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)

🇧🇷 Atendimento SUS — Doença hemorrágica em portador hemofilia B

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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.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

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 : JTH2026 Mar 06

Pregnant hemophilia carriers receive prophylactic Factor (F) VIII or FIX concentrate based on third-trimester FVIII/FIX activity to reduce the risk of severe postpartum hemorrhage (PPH, ≥1000 mL). Due to persistently high severe PPH rates, Dutch guidelines were revised in 2018. Consensus was reached to increase the third-trimester threshold for prophylaxis from <50 IU/dL to <80 IU/dL, and peak target levels during childbirth from ≥100 IU/dL to ≥150 IU/dL. Pregnant hemophilia carriers were prospectively enrolled (2018-2024) in Dutch hemophilia treatment centers to assess the severe PPH incidence after implementation of the revised guideline. FVIII/FIX activity, hematologic and obstetric outcomes were recorded and compared to a historical cohort (2012-2017). Statistics included descriptives and logistic regression to correct for confounders. Severe PPH occurred in 12.4% of 170 deliveries. No thrombosis was recorded. Prophylaxis in the subgroup with third trimester levels <80 IU/dL led to similar PPH rates to those with spontaneous rises >80 IU/dL. Compared to the historic cohort with the third-trimester cut-off <50 IU/dL, the severe PPH incidence did not decrease (n=170 vs n=197, OR 1.16, 95% CI 0.46-2.93), neither in the third-trimester 50-80 IU/dL subgroup (n=28/170 vs n=21/197, OR 1.0, 95%CI 0.20-2.90). Increasing the third-trimester cut-off to <80 IU/dL and aiming for ≥150 IU/dL at delivery did not decrease the risk for severe PPH in hemophilia carriers. More research is needed on optimal clotting factor levels during delivery to prevent severe PPH.

#2

Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.

Journal of blood medicine2025

Vietnam is estimated to have approximately 30,000 hemophilia B (HB) carriers, with hundreds of new cases registered annually. However, comprehensive molecular studies on HB remain limited. Therefore, this study aimed to characterize genetic variants and assess their clinical significance in unrelated Vietnamese patients with HB. This study included a cohort of 143 unrelated HB patients with diagnosed FIX levels. Genetic analysis of the F9 gene was performed using DNA sequencing and other molecular techniques. Variant pathogenicity was classified following ACMG/AMP guidelines, supplemented by computational predictions and clinical data. A 100% variant detection rate was achieved, identifying 83 unique variants from 143 patients. Single nucleotide variants were predominant, with missense variants accounting for 71.08%. Of the 83 unique variants, 20 novel variants were identified, including six missenses, four nonsenses, four frameshifts, two large deletions, two in-frame deletions, and two splice-site variants. The serine protease domain contained the highest proportion of variants (49.4%). Pathogenicity analysis revealed a predominance of severe phenotypes (72.03%). Among the novel variants, twelve were classified as pathogenic, one as likely pathogenic, and seven as variants of uncertain significance. A noteworthy case was the NM_000133.4:c.-21C>T promoter variant associated with HB Leyden, which demonstrated age-dependent improvements in factor IX levels. This study expands the mutational spectrum of HB in the Vietnamese population and provide critical insights into genotype-phenotype correlations. The identification of novel variants enhances diagnostic precision and underscores the importance of comprehensive genomic analyses in understanding disease mechanisms.

#3

Management of Pregnancy, Delivery, and Postpartum in Italian Carriers and Women With Haemophilia A and B.

Haemophilia : the official journal of the World Federation of Hemophilia2025 Sep

Managing pregnancy in carriers/women with haemophilia involves four key objectives: preconception and prenatal care, minimizing maternal bleeding, choosing the delivery mode to reduce foetal/neonatal bleeding, and postpartum care. The optimal factor VIII/IX level at delivery and the best delivery method to mitigate maternal and foetal complications are still debated. To share real-world clinical management in Italian haemophilia treatment centres. In March-April 2023, members of the Italian Association of Hemophilia Centers "AICE" were invited to an online survey to collect information on the management of pregnancy, delivery, and postpartum in carriers/women with haemophilia. Thirty-three centres responded. Plasma FVIII/FIX levels are systematically evaluated in the third trimester, considering a threshold above 50 U/dL essential for safe delivery and neuraxial analgesia. Overall, the haematologic counselling on delivery mode generally aligns with obstetric indications in 73% of centres. In women who will give birth to a known affected male foetus, 55% rely on obstetric indication, while 24% suggest spontaneous delivery and 21% planned caesarean section. Excluding those which follow obstetric indication, natural delivery and planned caesarean section are recommended respectively by 40% and 60% when prenatal diagnosis is available or by 20% and 80% when not available. All centres agree to avoid instrumental delivery in affected male foetus or when prenatal diagnosis has not been made. Multidisciplinary pregnancy management is recommended. Delivery mode choice is primarily driven by ensuring the newborn's maximum protection. However, the use of caesarean section should also be weighted according to the mother's risk profile.

#4

ImpaHCta-Haemophilia Carriers Quality of Life Assessment.

Haemophilia : the official journal of the World Federation of Hemophilia2025 Sep

Early identification of female haemophilia carriers (HC) before menarche is important to prevent potential heavy menstrual bleeding, provide preconception and prenatal care, render effective delivery and postpartum management and provide proper care towards haemostatic challenges. Evaluate HC women's bleeding phenotype and assess health-related quality of life (HRQOL). Cross-sectional, non-interventional, single centre study evaluating the bleeding tendency and quality of life of female adult haemophilia A or B carriers, compared with a healthy adult female control group. We used the International Society on Thrombosis and Haemostasis-Bleeding Assessment Tool (ISTH-BAT), to evaluate bleeding phenotype, and the Portuguese version of the Short Form-36 (SF-36) questionnaire, to assess HRQOL. Clotting factor activity (%) and the F8 or F9 gene variant of HC were determined. Median ISTH-BAT score was higher in carriers compared to noncarriers (2, [IQR 0-6] vs. 0, [IQR 0-1], p < 0.001). HC had significantly lower median scores in physical (84.8% vs. 90.7%, p = 0.01) and mental (70.2% vs. 82.1%, p < 0.001) SF-36 components than controls. The subgroup of HC with increased bleeding tendency (ISTH-BAT score ≥ 6) presented significantly lower clotting factor levels and lower scores in all SF-36 domains than the other HC. HC F8 and F9 pathogenic variants showed no significant influence on bleeding phenotype, factor levels or HRQOL. Our HC cohort presented worse HRQOL when compared to the general female age-matched population without a direct correlation with FVIII/FIX levels. Carriers with the severe bleeding phenotype tend to have significantly lower clotting factor levels.

#5

Successful management with regular factor IX replacement during pregnancy in a hemophilia B carrier: A case report.

The journal of obstetrics and gynaecology research2025 May

Hemophilia B is an X-linked inherited bleeding disorder characterized by decreased coagulation factor IX levels. Female hemophilia carriers can experience bleeding similar to male ones; however, they rarely experience severe bleeding during pregnancy. A 37-year-old hemophilia B carrier experienced severe bleeding after a miscarriage. The bleeding was initially controlled with transfusion and uterine artery embolization. However, after several days, the patient exhibited massive bleeding again, which was controlled with coagulation factor IX replacement. In her subsequent pregnancy, the patient presented with subchorionic hematoma and intermittent noncoagulable vaginal bleeding during the first trimester. Coagulation factor IX replacement was administered regularly to maintain coagulation activity to almost 50%. This then resulted in a successful live birth. In addition to conventional treatment for obstetric bleeding, regular coagulation factor IX replacement based on coagulation activity is beneficial during pregnancy in female hemophilia B carriers with recurrent hemorrhagic episodes.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 84

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
2025

Management of Pregnancy, Delivery, and Postpartum in Italian Carriers and Women With Haemophilia A and B.

Haemophilia : the official journal of the World Federation of Hemophilia
2025

ImpaHCta-Haemophilia Carriers Quality of Life Assessment.

Haemophilia : the official journal of the World Federation of Hemophilia
2025

Successful management with regular factor IX replacement during pregnancy in a hemophilia B carrier: A case report.

The journal of obstetrics and gynaecology research
2025

Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.

Journal of blood medicine
2025

Factor activity levels and bleeding scores in hemophilia carriers: apparent paradoxes.

Journal of thrombosis and haemostasis : JTH
2025

Comorbidity and Mortality in Men and Women With Haemophilia in Three Nordic Countries-Comparisons to Matched Controls.

Haemophilia : the official journal of the World Federation of Hemophilia
2025

The history of women and hemophilia: a narrative review of evolving beliefs and testing practices.

Journal of thrombosis and haemostasis : JTH
2024

The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation.

Molecular genetics &amp; genomic medicine
2024

Proactive systematic hemophilia carrier screening: a step toward gender equity in hemophilia care.

Blood advances
2024

Identifying hemophilia B carriers: Utility of aPTT, factor IX levels and ratios of factor IX to other Vitamin K dependent factors.

Haemophilia : the official journal of the World Federation of Hemophilia
2024

Bleeding risk in hemophilia A and B carriers: comparison of factor levels determined using chronometric and chromogenic assays.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2024

Origin of pathogenic variant and mosaicism in families with a sporadic case of haemophilia B.

Haemophilia : the official journal of the World Federation of Hemophilia
2024

Clinical Analysis and Mental Health Survey of Hemophilia Carriers: a Cross-sectional Study.

Current medical science
2023

Adherence tool for prophylactic haemophilia treatment in adult and adolescent patients: A systematic review and meta-analysis protocol.

PloS one
2023

Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B.

Molecular genetics &amp; genomic medicine
2022

Thromboembolic Disease in Haemophilic Patients Undergoing Major Orthopaedic Surgery: Is Thromboprophylaxis Mandatory?

Diagnostics (Basel, Switzerland)
2023

Prophylaxis use of clotting factor replacement products in people with non-severe haemophilia: A review of the literature.

Haemophilia : the official journal of the World Federation of Hemophilia
2022

Managing Pregnant Women with Hemophilia and von Willebrand Disease: How Do We Provide Optimum Care and Prevent Complications?

International journal of women's health
2022

Delivery of Cas9-guided ABE8e into stem cells using poly(l-lysine) polypeptides for correction of the hemophilia-associated FIX missense mutation.

Biochemical and biophysical research communications
2022

"Haemophilia A" - Presenting with oral squamous cell carcinoma diagnosis and management strategies.

Oral oncology
2022

Investigation of the Bleeding Tendency in Sudanese Female Carriers of Hemophilia B.

BioMed research international
2022

Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States.

Journal of thrombosis and haemostasis : JTH
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
2021

Mutation analysis and characterisation of F9 gene in haemophilia- B population of India.

Blood research
2022

F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.

Journal of thrombosis and haemostasis : JTH
2021

Descriptive analysis of bleeding symptoms in haemophilia carriers enrolled in the ATHNdataset.

Haemophilia : the official journal of the World Federation of Hemophilia
2021

Preclinical development of plant-based oral immune modulatory therapy for haemophilia B.

Plant biotechnology journal
2021

Consensus on hemophilia in Mexico.

Gaceta medica de Mexico
2021

Genetic analysis of carrier status in female members of Japanese hemophilia families.

Journal of thrombosis and haemostasis : JTH
2021

Evaluation of bleeding symptoms and laboratory parameters related to bleeding in sisters of patients with hemophilia A and B.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis
2021

Women and girls with haemophilia and bleeding tendencies: Outcomes related to menstruation, pregnancy, surgery and other bleeding episodes from a retrospective chart review.

Haemophilia : the official journal of the World Federation of Hemophilia
2020

Hemophilia carriers and women with coagulopathies: challenges in the occupational arena.

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

Hemophilia carriers: quality of life and management at different life stages.

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

Carriers of haemophilia: pregnancy, childbirth and postpartum.

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

Genetic causes of haemophilia in women and girls.

Haemophilia : the official journal of the World Federation of Hemophilia
2021

X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers.

European journal of human genetics : EJHG
2020

Haemophilia A/B carriers: haemorrhagic burden of disease and open issues.

Blood transfusion = Trasfusione del sangue
2020

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.

Human mutation
2020

Bleeding complications during pregnancy and delivery in haemophilia carriers and their neonates in Western France: An observational study.

Haemophilia : the official journal of the World Federation of Hemophilia
2020

Postpartum bleeding in women with inherited bleeding disorders: a matched cohort study.

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

Hemophilia B - Mutation Rates and Incidence - A Simulation Study.

Twin research and human genetics : the official journal of the International Society for Twin Studies
2020

Pregnancy outcomes in female carriers of haemophilia B Leyden.

British journal of haematology
2020

Role of Small Intestine and Gut Microbiome in Plant-Based Oral Tolerance for Hemophilia.

Frontiers in immunology
2020

The experiences and attitudes of hemophilia carriers around pregnancy: A qualitative systematic review.

Journal of thrombosis and haemostasis : JTH
2020

Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease.

Haemophilia : the official journal of the World Federation of Hemophilia
2020

Molecular characterization of hemophilia B patients in Colombia.

Molecular genetics &amp; genomic medicine
2020

EHL-FIX in haemophilia B carriers with FIX deficiency.

Haemophilia : the official journal of the World Federation of Hemophilia
2020

Maternal and neonatal outcomes in carriers of haemophilia A and B: A Swedish Medical Birth Register study.

Haemophilia : the official journal of the World Federation of Hemophilia
2019

Mothers' intentions and behaviours regarding providing risk communication to their daughters about their possibility of being haemophilia carriers: A qualitative study.

Haemophilia : the official journal of the World Federation of Hemophilia
2019

Mathematical model of thrombin generation and bleeding phenotype in Amish carriers of Factor IX:C deficiency vs. controls.

Thrombosis research
2019

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific reports
2019

Genetic analysis of a hemophilia B family with a novel F9 gene mutation: A STROBE-compliant article.

Medicine
2019

[HEMOPHILIA - A ROYAL DISEASE IN THE HOLY LAND].

Harefuah
2019

The characteristics and spectrum of F9 mutations in Chinese sporadic haemophilia B pedigrees.

Haemophilia : the official journal of the World Federation of Hemophilia
2018

Fusion of Factor IX to Factor XIII-B Sub-Unit Improves the Pharmacokinetic Profile of Factor IX.

Thrombosis and haemostasis
2018

Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9.

Molecular genetics &amp; genomic medicine
2018

Screening of haemophilia carriers in moderate and severe haemophilia A and B: Prevalence and determinants.

Haemophilia : the official journal of the World Federation of Hemophilia
2019

High resolution melting for F9 gene mutation analysis in patients with haemophilia B.

Blood transfusion = Trasfusione del sangue
2018

Suppressive Role of Tissue Factor Pathway Inhibitor-α in Platelet-Dependent Fibrin Formation under Flow Is Restricted to Low Procoagulant Strength.

Thrombosis and haemostasis
2018

Targeting anticoagulant protein S to improve hemostasis in hemophilia.

Blood
2018

Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in Chinese population.

International journal of laboratory hematology
2018

The spectrum of bleeding in women and girls with haemophilia B.

Haemophilia : the official journal of the World Federation of Hemophilia
2017

Noninvasive prenatal diagnosis for X-linked disease by maternal plasma sequencing in a family of Hemophilia B.

Taiwanese journal of obstetrics &amp; gynecology
2017

Comparative study of the prevalence of clotting factor deficiency in carriers of haemophilia A and haemophilia B.

Haemophilia : the official journal of the World Federation of Hemophilia
2017

"It was a lot Tougher than I Thought It would be". A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier.

Journal of genetic counseling
2017

Rare bleeding disorders-old diseases in the era of novel options for therapy.

Blood cells, molecules &amp; diseases
2017

Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia.

Haemophilia : the official journal of the World Federation of Hemophilia
2017

Systemic delivery of factor IX messenger RNA for protein replacement therapy.

Proceedings of the National Academy of Sciences of the United States of America
2017

The second Team Haemophilia Education Meeting, 2016, Frankfurt, Germany.

European journal of haematology
2016

Evaluation of the utility of the ISTH-BAT in haemophilia carriers: a multinational study.

Haemophilia : the official journal of the World Federation of Hemophilia
2016

Biodegradable hydrophilic carriers for the oral delivery of hematological factor IX for hemophilia B treatment.

International journal of pharmaceutics
2016

Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.

Journal of thrombosis and haemostasis : JTH
2017

Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.

Thrombosis and haemostasis
2017

Genetic diagnosis in hemophilia and von Willebrand disease.

Blood reviews
2017

Treatment of hemophilia: A qualitative study of mothers' perspectives.

Pediatric blood &amp; cancer
2017

Outcomes in Patients With Hemophilia and von Willebrand Disease Undergoing Invasive or Surgical Procedures.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2015

Using genetic diagnostics in hemophilia and von Willebrand disease.

Hematology. American Society of Hematology. Education Program
2015

Association between bleeding tendency and health-related quality of life in carriers of moderate and severe haemophilia.

Haemophilia : the official journal of the World Federation of Hemophilia
2015

Low cost industrial production of coagulation factor IX bioencapsulated in lettuce cells for oral tolerance induction in hemophilia B.

Biomaterials
2015

Age-related factor IX correction in symptomatic female carriers with haemophilia B Leyden.

Haemophilia : the official journal of the World Federation of Hemophilia
2015

Factor levels in carriers of haemophilia are associated with familial severity: a Danish single centre study.

Haemophilia : the official journal of the World Federation of Hemophilia
2015

Hemophilia B: molecular pathogenesis and mutation analysis.

Journal of thrombosis and haemostasis : JTH
2015

Primary postpartum haemorrhage in women with von Willebrand disease or carriership of haemophilia despite specialised care: a retrospective survey.

Haemophilia : the official journal of the World Federation of Hemophilia

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Doença hemorrágica em portador hemofilia B.

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

Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Doença hemorrágica em portador hemofilia B 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

É uma condição clínica em que mulheres portadoras de variantes no gene F9 manifestam episódios anormais de sangramento. O problema está associado à redução na atividade do fator IX de coagulação no sangue.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

9 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. ImpaHCta-Haemophilia Carriers Quality of Life Assessment.
    Haemophilia : the official journal of the World Federation of Hemophilia2025PMID 40625091
  2. ORPHA:177929
    Orphanet
  3. GARD:17077
    GARD (NIH)
  4. Q55785718
    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.). Doença hemorrágica em portador hemofilia B. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-hemorragica-em-portador-hemofilia-b

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

Doença hemorrágica em portador hemofilia B

ORPHA:177929 · MONDO:0015788
🇧🇷 Brasil SUS
SIGTAP
1 procedimentos
Geral
Prevalência
Unknown
Herança
X-linked recessive
CID-10
D67 · Deficiência hereditária do fator IX
CID-11
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5680505
Repurposing
1 candidato
tranexamic-acid — antifibrinolytic|plasminogen activator inhibitor
Wikidata

📋 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