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Doença hemorrágica em portador hemofilia A
ORPHA:177926CID-10 · D66CID-11 · 3B10.0DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
Sangue / imuneInício todas idadesHerança XL

Forma de hemofilia A que se manifesta em algumas mulheres com mutações no gene F8 (Xq28), que codifica o fator VIII de coagulação.

Última verificação: Fonte: verificadoEm construçãohistóricoSugerir correção
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Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A doença hemorrágica em portador de hemofilia A ocorre em mulheres que carregam a mutação genética da hemofilia A e apresentam sangramentos anormais. É comum o aparecimento de hematomas frequentes, sangramentos no nariz, fluxo menstrual excessivo e perdas de sangue prolongadas após procedimentos dentários ou cirurgias. O quadro acontece devido a uma redução na atividade do fator VIII de coagulação no sangue provocada por alterações no gene F8. Para o manejo de quadros relacionados à hemofilia A, o SUS dispensa medicamentos como o Fator VIII de coagulação e o Emicizumabe em apresentações injetáveis.

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Informacoes curadas por IA — podem conter imprecisoes

Forma de hemofilia A que se manifesta em algumas mulheres com mutações no gene F8 (Xq28), que codifica o fator VIII de coagulação.

Medicamentos
2 com registro
Fator VIII, Emicizumabe (Hemlibra)

Tem tratamento?

✓ 2 medicamentos específicos desta doença
Ver detalhes, fases e interações →
FATOR VIIIEMICIZUMABE (HEMLIBRA)

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
Início
All ages
🏥
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?
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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
5 sintomas
🦴
Ossos e articulações
1 sintomas

+ 6 sintomas em outras categorias

Características mais comuns

90%prev.
Suscetibilidade a hematomas
Muito frequente (99-80%)
90%prev.
Atividade reduzida do fator VIII
Muito frequente (99-80%)
55%prev.
Hemorragia pós-parto
Frequente (79-30%)
55%prev.
Epistaxe
Frequente (79-30%)
55%prev.
Sangramento prolongado após procedimento
Frequente (79-30%)
55%prev.
Sangramento prolongado após extração dentária
Frequente (79-30%)
12sintomas
Muito frequente (2)
Frequente (7)
Ocasional (2)
Muito raro (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.

Suscetibilidade a hematomasBruising susceptibility
Muito frequente (99-80%)90%
Atividade reduzida do fator VIIIReduced factor VIII activity
Muito frequente (99-80%)90%
Hemorragia pós-partoPost-partum hemorrhage
Frequente (79-30%)55%
EpistaxeEpistaxis
Frequente (79-30%)55%
Sangramento prolongado após procedimentoProlonged bleeding following procedure
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa9
Últimos 10 anos200publicações
Pico202034 papers
Linha do tempo
20202017Hoje · 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.

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

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 — Doença hemorrágica em portador hemofilia A

🗺️

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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Divulgue para pacientes e familiares que acompanham esta doença.
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

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

International journal of molecular sciences2026 Mar 02

NKAP (NF-kappa-B-activating protein) is a ubiquitously expressed nuclear protein involved in multiple biological processes. Males with missense NKAP mutations have been reported to present with marfanoid features and behavioral and musculoskeletal abnormalities. We have previously reported that a disruptive NKAP mutation resulted in extremely skewed X chromosome inactivation (XCI), leading to phenotypic manifestation of hemophilia A (HA) in a HA carrier. In this study, with the aim of exploring the phenotypic manifestations of deleterious NKAP mutations in males, as well as their involvement in the mechanism of XCI regulation in females, we generated NKAP mutant mice using CRISPR/Cas9 technology. Gait analysis studies conducted in male mice hemizygous for mutant NKAP by the CatWalk XT system revealed significant alterations in gait parameters, consistent with hypotonia reported in human mutant NKAP patients. By breeding mutant NKAP mice with HA mice, we generated a double heterozygous mutant NKAP/HA mouse model, i.e., female mice carrying mutant NKAP with a WT F8 copy on one X chromosome, and WT NKAP with a mutant F8 copy on the other X chromosome. XCI pattern analysis using methylation-sensitive restriction enzymes demonstrated that mutant NKAP/HA females exhibited significant XCI skewing of the X chromosome bearing the mutant NKAP copy. Furthermore, these females exhibited significantly reduced F8 mRNA levels and FVIII (factor VIII) antigen levels, as demonstrated by quantitative RT-PCR and ELISA, respectively. Murine embryonic fibroblasts (MEFs) derived from a hemizygous mutant NKAP embryo exhibited markedly reduced proliferation rate and increased senescence compared to WT NKAP MEFs, suggesting that XCI skewing induced by mutant NKAP results from secondary selection against cells with an active X chromosome bearing the mutant NKAP copy.

#2

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.

#3

F8 gene variants influence the response to desmopressin in hemophilia A carriers.

Blood2025 Oct 16

Desmopressin (DDAVP) is often administered to correct factor VIII (FVIII) levels in female hemophilia A carriers (HACs). However, the post-DDAVP FVIII pharmacokinetic profiles have been reported only in small series in HACs. Therefore, this study analyzed the post-DDAVP FVIII and von Willebrand factor (VWF) response in 361 HACs. A population pharmacokinetic/pharmacodynamic model was developed to analyze the VWF and FVIII levels by taking into account the F8 gene variants (n = 143 [39.6%] with null; and n = 218 [60.4%] with non-null variants), demographic and laboratory covariates. The before/after DDAVP mean basal, peak and recovery FVIII activity (FVIII:C) levels were 0.34 IU/mL (0.08-0.65), 1.13 IU/mL (0.19-2.69), and 2.85 IU/mL (1.06-7.13), respectively. Peak FVIII:C was ≥0.5 IU/mL in 95.6% (345/361) and ≥0.8 IU/mL in 78.7% (284/361) of patients. The covariate analysis showed a poorer DDAVP FVIII:C response for null than non-null F8 variants: lower mean FVIII:C peak (1.04 vs 1.23 IU/mL; P < 5 × 10-5) and patients percentage with normalized FVIII:C (91.6% vs 98.1%; P = .0068), higher mean FVIII:C clearance (5898.83 vs 2704.06 IU/h; P = 1.58 × 10-15), lower mean FVIII:C area under the curve during the first 12 hours (AUC0-12h =7.73 vs 9.06 IU/mL per hour; P < 5 × 10-6), and shorter mean time with FVIII:C ≥0.8 IU/mL (1.9 vs 4.1 hours; P < 6 × 10-6). HAC with body weight <35 kg had lower peak FVIII:C, higher FVIII:C clearance, lower AUC0-12h, and shorter time with FVIII:C ≥0.8 IU/mL than HAC with body weight 35 to 70 kg. In HACs, the post-DDAVP FVIII response is strongly influenced by the F8 genotype and body weight.

#4

Hybridization capture long-read sequencing and de novo assembly of homologous haplotypes: a comprehensive hemophilia test.

Blood advances2025 Oct 14

Hemophilia is an X-linked bleeding disorder caused by defects in the F8 or F9 genes. Given the wide variety of F8 variants, conventional genetic testing typically requires a combination of multiple methods, and detecting rearrangements in the intron 22 homologous regions (int22hs) remains a challenging task. In this study, we developed a comprehensive hemophilia testing program using the PacBio long-read sequencing (LRS) platform. Experimentally, we established a standard operating procedure for hybridization capture LRS (hc-LRS), which generates reads longer than 5 kilobases. Analytically, we used a suite of bioinformatics tools to identify variants associated with hemophilia, including the detection of int22h-related rearrangements through de novo assembly of homologous haplotypes. Our approach successfully identified pathogenic variants in patients with, and carrier of, hemophilia, encompassing both single-nucleotide variants and structural variations, with full concordance to validated methods. Moreover, the program identified complex int22h rearrangements in several samples, which were previously difficult to detect using traditional techniques. Compared with conventional methods, hc-LRS is more cost-effective, convenient, and capable of detecting various variants in a single test. This approach provides a powerful tool for the genetic diagnosis of hemophilia, particularly in patients with unknown genetic backgrounds or complex variants. In conclusion, our comprehensive testing program represents a significant advancement in the genetic diagnosis of hemophilia.

#5

Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.

International journal of molecular sciences2025 Jan 22

F8 gene inversion variants originate in male germ cells during spermatogenesis. Our recent study revealed that de novo variants (DNVs) caused F8 noninversion variants (NIVs) in sporadic hemophilia A (HA). Here, we conducted a direct clinical determination of sex differences in the origin of sporadic HA-NIV according to the data of two new HA-NIV families, as well as of the families demonstrated in the previous study. Of the 126 registered families with HA, 23 were eligible for inclusion. We conducted a linkage analysis with F8 gene markers and an amplification refractory mutation system-quantitative polymerase chain reaction to confirm the origin of the sporadic NIVs (~0% mutant cells) or the presence of a mosaic variant, requiring further confirmation of the origin in the parent. Two sporadic DNV events were determined. One event occurred in grandparents, consisting of five maternal grandmothers and seven maternal grandfathers, who were the origins; their respective daughters became carrier mothers who gave birth to probands. The other event included 11 mothers, who were the origins exclusively; their respective sons became probands. In this study, we found that sporadic HA-NIVs originate mostly from females (16 out of 23). Our study contributes to a better understanding of the genetic pathogenesis of HA.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

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

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

A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A.

Frontiers in genetics
2025

Updated Egyptian national guidelines for management of hemophilia A in children & adolescents.

Annals of hematology
2025

F8 gene variants influence the response to desmopressin in hemophilia A carriers.

Blood
2025

Application of capillary gel electrophoresis in detection of Factor VIII gene intron 22 inversion of hemophilia A.

Journal of hematopathology
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

Hybridization capture long-read sequencing and de novo assembly of homologous haplotypes: a comprehensive hemophilia test.

Blood advances
2025

ImpaHCta-Haemophilia Carriers Quality of Life Assessment.

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

Prevalence of hemophilia in women and girls in Burkina Faso.

Annales de biologie clinique
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

Lipopolysaccharide-binding protein functions as factor VIII inhibitor in bullous pemphigoid associated with acquired hemophilia A.

Archives of dermatological research
2025

Discrepancy between one-stage clotting and chromogenic factor VIII activity in women with hemophilia A and hemophilia A carriers: a retrospective clinical study.

Journal of thrombosis and haemostasis : JTH
2025

Genetic testing for children at risk to be hemophilia carriers.

Journal of genetic counseling
2025

Development of a Single-Tube Reverse Transcription Real-Time PCR Assay for Diagnosis of F8 Intron 22 Inversion in Patients and Carriers of Haemophilia A.

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

Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.

International journal of molecular sciences
2024

An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation.

Frontiers in genetics
2024

Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females.

Genes
2025

Investigation of a hemophilia family with one female hemophilia A patient and 12 male hemophilia A patients.

Annals of hematology
2025

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

Journal of thrombosis and haemostasis : JTH
2025

Clot waveform analysis in hemophilia carriers.

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

Design of an international, phase IV, open-label study of simoctocog alfa in women/girls with hemophilia A undergoing surgery (NuDIMENSION).

Therapeutic advances in hematology
2024

Assessment of joint health in females with haemophilia: The carriers ultrasound project (CUP) study.

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

Macrophage membrane-encapsulated miRNA nanodelivery system for the treatment of hemophilic arthritis.

Journal of controlled release : official journal of the Controlled Release Society
2024

A Comparative Analysis of the Bleeding Profile and Quality of Life Among Women With Hemophilia Genotype Compared to Other Bleeding Disorders.

Cureus
2024

Haemophilia testing of young girls in Canada: Describing the current recommendations for factor level and genetic testing and the experiences of Canadian parents.

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

The prevalence of Hemophilia A in males in Africa: evidence from a systematic review and meta-analysis.

BMC public health
2025

Clinical, Laboratory, Molecular, and Reproductive Aspects of Combined Deficiency of Factors V and VIII.

Seminars in thrombosis and hemostasis
2024

Large deletions and small insertions and deletions in the factor VIII gene predict unfavorable immune tolerance induction outcome in people with severe hemophilia A and high-responding inhibitors.

Thrombosis research
2024

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

Blood advances
2024

Characterization of zebrafish coagulation cofactors Fviii and Fv mutants and modeling hemophilia A and factor V deficiency.

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

Heterozygous large deletion mimicking homozygous substitution in MCFD2 in a patient with combined Factor V and Factor VIII deficiency.

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

Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers.

American journal of medical genetics. Part A
2024

[Treatment of haemophilia in Austria].

Wiener klinische Wochenschrift
2024

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression.

Journal of medical genetics
2024

Application of machine learning approaches for predicting hemophilia A severity.

Journal of thrombosis and haemostasis : JTH
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
2024

Women and girls with inherited bleeding disorders: Focus on haemophilia carriers and heavy menstrual bleeding.

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

[Successful immunosuppressive therapy in female hemophilia A developing inhibitor after perioperative administration of factor VIII products].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2024

Test-retest reliability of a mobile application of the patient reported outcomes burdens and experiences (PROBE) study.

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

The underevaluated impacts of the therapeutic revolution of hemophilia on women and girls.

Journal of thrombosis and haemostasis : JTH
2024

Prenatal diagnosis and genetic analysis of novel missense mutation in FVIII gene.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2024

The psychosocial impact of haemophilia from patients' and caregivers' point of view: The results of an Italian survey.

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

Specific serum biomarkers to assess the bone health in a group of hemophilia A carriers: Data from the CAR.BONE study.

Thrombosis research
2023

Hemophilia A in a litter of Border Collies caused by a one base pair deletion in the F8 gene.

Veterinary clinical pathology
2023

National strategic advocacy to manage patients with inherited bleeding disorders in low and lower-middle income countries.

Expert review of hematology
2023

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

PloS one
2023

Management of pregnant women who have bleeding disorders.

Hematology. American Society of Hematology. Education Program
2024

Renal inflammatory myofibroblastic tumor coexisting with hemophilia A carrier: a case report and literature review.

CEN case reports
2023

Factor VIII antibody immune complexes modulate the humoral response to factor VIII in an epitope-dependent manner.

Frontiers in immunology
2023

Building a haemophilia-specific navigator in Epic® Electronic Health Records: Single-centre preliminary experience.

Haemophilia : the official journal of the World Federation of Hemophilia
2023

Factor activity levels and bleeding scores in pediatric hemophilia carriers enrolled in the ATHNdataset.

Pediatric blood &amp; cancer
2023

Association of Genetic Variant FVIII Gene and Factor VIII: A Pilot Study Among Hemophilia A Female Relatives in Saudi Arabia.

Cureus
2023

Psychological and cognitive factors involved in decision-making process of haemophilia carriers in reproductive choices.

Haemophilia : the official journal of the World Federation of Hemophilia
2023

Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions.

International journal of molecular sciences
2023

A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs.

Animal genetics
2023

Real-world analysis of patients with haemophilia A and haemophilia A carriers in the United States: Demographics, clinical characteristics and costs.

Haemophilia : the official journal of the World Federation of Hemophilia
2023

A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report.

Medicine
2023

The length of the sanitary napkins can be used as a handier index than pictorial blood loss assessment chart to predict the heavy menstrual bleeding.

The journal of obstetrics and gynaecology research
2023

Von Willebrand Disease, Hemophilia, and Other Inherited Bleeding Disorders in Pregnancy.

Obstetrics and gynecology
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)
2022

Management of pregnant female with Haemophilia-A: A case report.

Journal of family medicine and primary care
2023

Separate roles of LMAN1 and MCFD2 in ER-to-Golgi trafficking of FV and FVIII.

Blood advances
2022

A Novel Deletion Mutation of the F8 Gene for Hemophilia A.

Diagnostics (Basel, Switzerland)
2022

Preimplantation genetic testing (PGT) for hemophilia A: Experience from one center.

Taiwanese journal of obstetrics &amp; gynecology
2023

Mechano-covalent protection of coagulation factor VIII by von Willebrand factor.

Blood advances
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
2023

Prenatal diagnosis for hemophilia A (intron 22 inversion) reveals a rare association with Klinefelter syndrome with diagnostic difficulties in molecular interpretation.

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

[Analysis of genetic variant in a Chinese pedigree with hereditary factor VIII deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
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

"A new hemophilia carrier nomenclature to define hemophilia in women and girls: Communication from the SSC of the ISTH": Comment.

Journal of thrombosis and haemostasis : JTH
2022

"A New Hemophilia Carrier Nomenclature to define hemophilia in women and girls: Communication from the SSC of the ISTH": Reply to comment.

Journal of thrombosis and haemostasis : JTH
2022

Health issues in women and girls affected by haemophilia with a focus on nomenclature, heavy menstrual bleeding, and musculoskeletal issues.

Haemophilia : the official journal of the World Federation of Hemophilia
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

Bone health in haemophilia carriers and persons with von Willebrand disease: A large database analysis.

Haemophilia : the official journal of the World Federation of Hemophilia
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

Mothers' strategies for supporting daughters who are potential haemophilia carriers.

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

The Lesson Learned from the New c.2547-1G > T Mutation Combined with p.R854Q: When a Type 2N Mutation Reveals a Quantitative von Willebrand Factor Defect.

Thrombosis and haemostasis
2022

The views of women with bleeding disorders: Results from the Cinderella study.

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

The effect of carriers' reproductive choices and pregnancy history on sporadic severe haemophilia: A 20-year retrospective study through a regional registry.

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

[Analysis of a patient with severe Hemophilia A due to a large duplication of F8 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

Determining common variants in patients with haemophilia A in South Vietnam and screening female carriers in their family members.

Journal of clinical pathology
2022

Percutaneous left atrial appendage closure in patients with primary hemostasis disorders and atrial fibrillation.

Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing
2022

The role of genetics in the diagnosis and treatment of haemorrhagic diathesis: a historical perspective.

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

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

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

Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.

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

Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome Analyses.

International journal of molecular sciences
2021

Evaluation of ISTH-BAT as a predictor for factor deficiency in haemophilia carriers: a single-centre experience.

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

A qualitative study on the experiences of haemophilia carriers before, during and after pregnancy.

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

Regulation and importance of factor VIII levels in hemophilia A carriers.

Current opinion in hematology
2021

Hemophilia A (Factor VIII Deficiency).

Hematology/oncology clinics of North America
2021

Identification of F8 rearrangements in carrier and non-carrier mothers of haemophilia A patients.

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

Hemophilia A and C in a female: The first case report in literature.

Annals of medicine and surgery (2012)
2021

A new hemophilia carrier nomenclature to define hemophilia in women and girls: Communication from the SSC of the ISTH.

Journal of thrombosis and haemostasis : JTH
2021

Haemophilia Carriers Experience Study (CARES): A mixed method exploration into the experience of women who are carriers of Haemophilia.

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

[The management strategy for von Willebrand disease].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2021

[Analysis of gene inversion in Hemophilia A by Nanopore sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

Consensus on hemophilia in Mexico.

Gaceta medica de Mexico
2021

Maternal and neonatal bleeding complications in relation to peripartum management in hemophilia carriers: A systematic review.

Blood reviews
2021

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

Journal of thrombosis and haemostasis : JTH
2020

Case Report: Identification of a de novo Missense Mutation in the F8 Gene, p.(Phe690Leu)/c.2070C > A, Causing Hemophilia A: A Case Report.

Frontiers in genetics
2021

Factor VIII levels and bleeding according to factor 8 (F8) mutation in pregnant carriers of haemophilia A: a multicentre retrospective cohort study.

British journal of haematology
2021

Delivery and neuraxial technique outcomes in patients with hemophilia and in hemophilia carriers: a systematic review.

Journal of anesthesia
2021

Development of a Specific Monoclonal Antibody to Detect Male Cells Expressing the RPS4Y1 Protein.

International journal of molecular sciences
2021

Von Willebrand disease type 2N: An update.

Journal of thrombosis and haemostasis : JTH
2021

A SINE Insertion in F8 Gene Leads to Severe Form of Hemophilia A in a Family of Rhodesian Ridgebacks.

Genes
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
2021

Women with haemophilia also exist.

The Lancet. Haematology
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
2020

Prenatal diagnostic techniques and IVF in patients with coagulopathies.

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

State of the art of genetic studies in hemophilia carriers.

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

General concepts on hemophilia A and on women carrying the disease.

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

Droplet digital PCR and mile-post analysis for the detection of F8 int1h inversions.

Journal of thrombosis and haemostasis : JTH
2021

Genetic causes of haemophilia in women and girls.

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

Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.

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

Genetic analysis for carrier diagnosis in hemophilia A and B in the Mexican population: 25 years of experience.

American journal of medical genetics. Part C, Seminars in medical genetics
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

Factor VIII Intron 22 Inversion in Severe Hemophilia A Patients in Palestine.

Scientifica
2021

Women and girls with haemophilia: Lessons learned.

Haemophilia : the official journal of the World Federation of Hemophilia
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

How I manage pregnancy in carriers of hemophilia and patients with von Willebrand disease.

Blood
2020

Unravelling the knowledge, beliefs, behaviours and concerns of Persons with Haemophilia and their carriers in Senegal.

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

A study of dedicated haemophilia carrier clinics in the United States: Prevalence, services offered and barriers to development.

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

The diagnosis of a haemophilia A carrier over 2 decades.

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

Registry of patients with congenital bleeding disorders and COVID-19 in Madrid.

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

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

Frontiers in immunology
2020

Six molecular patterns leading to hemophilia A phenotype in 18 females from Poland.

Thrombosis research
2020

Identification and expression of a novel heterozygous frameshift mutation in FGA accounting for congenital hypofibrinogenemia in carriers of severe hemophilia A.

Thrombosis research
2020

Perinatal Management of Haemophilia.

Hamostaseologie
2021

Genetics of equine bleeding disorders.

Equine veterinary journal
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

Escape or Fight: Inhibitors in Hemophilia A.

Frontiers in immunology
2020

A Closed-Tube Nested Quantitative PCR Assay for Rapid Detection of Intron 22 Inversions in the Factor VIII Gene.

Clinical chemistry
2020

Detection of F8 int22h inversions using digital droplet PCR and mile-post assays.

Journal of thrombosis and haemostasis : JTH
2020

Noninvasive prenatal diagnosis of hemophilia A by a haplotype-based approach using cell-free fetal DNA.

BioTechniques
2020

Identification of the Intron 22 and Intron 1 Inversions of the Factor VIII Gene in Iraqi Kurdish Patients With Hemophilia A.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2020

In Silico Study of Correlation between Missense Variations of F8 Gene and Inhibitor Formation in Severe Hemophilia A.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2020

EHL-FIX in haemophilia B carriers with FIX deficiency.

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

Hemophilia A in Females: Considerations for Clinical Management.

Acta haematologica
2020

Can we compare haemophilia carriers with clotting factor deficiency to male patients with mild haemophilia?

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

Bone health in symptomatic carriers of haemophilia A: a protocol for a multicentre prospective matched-cohort study.

BMJ open
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
2020

Bleeding assessment in haemophilia carriers-High rates of bleeding after surgical abortion and intrauterine device placement: A multicentre study in China.

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

Joint comorbidities among Swedish carriers of haemophilia: A register-based cohort study over 22 years.

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

Development and evaluation of appropriate, culturally adapted educational tools for Ivoirian patients with haemophilia, haemophilia carriers and their families.

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

The national blueprint for pregnancy/birth longitudinal cohorts to study factor VIII immunogenicity: NHLBI State of the Science (SOS) Workshop on factor VIII inhibitors.

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

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

Scientific reports
2019

Total hip arthroplasty for a woman with hemophilia A -case report.

Annals of medicine and surgery (2012)
2019

Application of Indirect Linkage Analysis for Carrier Detection of Hemophilia A in Kurdistan Region of Iraq: Usefulness of Intron 18 BclI T>A, Intron 19 HindIII C>T, and IVS7 nt27 G>A Markers.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
2019

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

Harefuah
2019

Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening.

Molecular genetics &amp; genomic medicine
2019

Mode of delivery in hemophilia: vaginal delivery and Cesarean section carry similar risks for intracranial hemorrhages and other major bleeds.

Haematologica
2019

Hemophilia carrier's awareness, diagnosis, and management in emerging countries: a cross-sectional study in Côte d'Ivoire (Ivory Coast).

Orphanet journal of rare diseases
2018

Literature review and clinical observation of acquired idiopathic hemophilia with a new missense mutation in the factor VIII gene (His2026Arg).

Terapevticheskii arkhiv
2019

Splicing analysis of 26 F8 nucleotide variations using a minigene assay.

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

Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia.

European journal of human genetics : EJHG
2019

The invisible child: Sibling experiences of growing up with a brother with severe haemophilia-An interpretative phenomenological analysis.

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

A decreased and less sustained desmopressin response in hemophilia A carriers contributes to bleeding.

Blood advances
2018

Use of two complementary new molecular techniques, next-generation sequencing and droplet digital PCR, for diagnosis of an F8 gene deletion and subsequent carrier analysis in a family with haemophilia A: A Case Report.

Haemophilia : the official journal of the World Federation of Hemophilia
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

Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia.

Indian pediatrics
2018

Inherited Bleeding Disorders in the Obstetric Patient.

Transfusion medicine reviews
2018

Optimizing bleed prevention throughout the lifespan: Womb to Tomb.

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

Genotypes, phenotypes and whole genome sequence: Approaches from the My Life Our Future haemophilia project.

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

Postpartum haemorrhage in an unselected cohort of carriers of haemophilia.

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

Blood-induced bone loss in murine hemophilic arthropathy is prevented by blocking the iRhom2/ADAM17/TNF-α pathway.

Blood
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
2018

An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A.

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

Enzymatically oxidized phospholipids restore thrombin generation in coagulation factor deficiencies.

JCI insight
2018

Management of haemophilia carriers around the time of their delivery: Phenotypic variation requiring customization of management.

Haemophilia : the official journal of the World Federation of Hemophilia
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

Spectrum and origin of mutations in sporadic cases of haemophilia A in China.

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

Targeting anticoagulant protein S to improve hemostasis in hemophilia.

Blood
2017

Evaluation of the self-administered bleeding assessment tool (Self-BAT) in haemophilia carriers and correlations with quality of life.

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

Improving risk equalization for individuals with persistently high costs: Experiences from the Netherlands.

Health policy (Amsterdam, Netherlands)
2017

Direct and indirect gene diagnosis of hemophilia A pedigrees in the Chinese population.

Molecular medicine reports
2017

Mice deficient in the anti-haemophilic coagulation factor VIII show increased von Willebrand factor plasma levels.

PloS one
2017

[EVALUATION OF PARAMETERS OF HEMOSTASIS IN THE THIRD TRIMESTER IN PREGNANT WOMEN WITH CONGENİTAL HEMORRHAGIC DIATHESIS].

Georgian medical news
2017

[Genetic and prenatal diagnosis for a haemophilia A family with two novel mutations of F8 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2017

Bleeding risk assessment in hemophilia A carriers from Dakar, Senegal.

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

Prenatal genetic testing by late amniocentesis to guide delivery management in haemophilia carriers.

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

Two rare risk factors for post-partum haemorrhage: a case report of a carrier of severe haemophilia A with a uterine arteriovenous malformation.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Associação brasileira dedicada a Hemofilia.

Associação brasileira dedicada a Hemofilia.

Doença com base genética

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

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

Trata-se de uma manifestação clínica em mulheres portadoras de mutação no gene F8 que desenvolvem sintomas de sangramento. A condição cursa com a redução da atividade do fator VIII no sangue e pode iniciar em qualquer idade.

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:177926
    Orphanet
  2. GARD:17076
    GARD (NIH)
  3. Q55785717
    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 A. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-hemorragica-em-portador-hemofilia-a

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 A

ORPHA:177926 · MONDO:0015787
🇧🇷 Brasil SUS
Internações
6.780/ano
Prevalência BR
1:5000 (homens)
Custo SUS
R$ 12.450/internação
SIGTAP
2 procedimentos
Dados
DATASUS 2024
Geral
Prevalência
Unknown
Herança
X-linked recessive
CID-10
D66 · Deficiência hereditária do fator VIII
CID-11
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5680504
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