hemophilia
SaudiVarKB evidence summary derived from retained literature mentions.
111Phenotype mentions
100Publications
21Associated gene records
17Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| F8 | HGNC:3546 | 4 | 4 |
| F9 | HGNC:3551 | 3 | 3 |
| HAL | HGNC:4806 | 1 | 1 |
| CTLA4 | HGNC:2505 | 1 | 1 |
| PGD | HGNC:8891 | 1 | 1 |
| B3GNT2 | HGNC:15629 | 1 | 1 |
| LMAN1 | HGNC:6631 | 1 | 1 |
| MCFD2 | HGNC:18451 | 1 | 1 |
| CD44 | HGNC:1681 | 1 | 1 |
| BAX | HGNC:959 | 1 | 1 |
| JAK1 | HGNC:6190 | 1 | 1 |
| HP | HGNC:5141 | 1 | 1 |
| TLR1 | HGNC:11847 | 1 | 1 |
| TOLLIP | HGNC:16476 | 1 | 1 |
| IL23R | HGNC:19100 | 1 | 1 |
| CD1C | HGNC:1636 | 1 | 1 |
| PIGR | HGNC:8968 | 1 | 1 |
| BLNK | HGNC:14211 | 1 | 1 |
| IFNLR1 | HGNC:18584 | 1 | 1 |
| SOCS2 | HGNC:19382 | 1 | 1 |
| SOX3 | HGNC:11199 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| R338L | R338L | 1 | 1 |
| rs117382854 | rs117382854 | 1 | 1 |
| rs10176009 | rs10176009 | 1 | 1 |
| rs231780 | rs231780 | 1 | 1 |
| p.T137P | p.T137P | 1 | 1 |
| p.R612P | p.R612P | 1 | 1 |
| c.822G>A | c.822G>A | 1 | 1 |
| 1G>A | 1G>A | 1 | 1 |
| c.6130_6131insC | c.6130_6131insC | 1 | 1 |
| c.5815G>C | c.5815G>C | 1 | 1 |
| c.5493C>G | c.5493C>G | 1 | 1 |
| c.3734_3740delinsATTTCT | c.3734_3740delinsATTTCT | 1 | 1 |
| c.3744A>T | c.3744A>T | 1 | 1 |
| c.99G>T | c.99G>T | 1 | 1 |
| W33C | W33C | 1 | 1 |
| c.855G>C | c.855G>C | 1 | 1 |
| E285D | E285D | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsSupporting publications
100 records- 2026Transforming Hemophilia Management: Lessons from Gene Therapy Clinical Trials.Molecular biotechnology1 mentions
- 2026Health-related quality of life in adults with hemophilia B after gene therapy with fidanacogene elaparvovec: results from the BENEGENE-2 trial.Journal of thrombosis and haemostasis : JTH1 mentions
- 2026Assessing factor consumption and bleeding outcomes of prophylaxis with 3 commonly prescribed factor IX products for hemophilia B: A retrospective patient medical record analysis in the United States.Journal of managed care & specialty pharmacy1 mentions
- 2026Comparative Efficacy and Safety of Non-Clotting Factor Prophylaxis Versus. on-Demand Therapy in Hemophilia: A Meta-Analysis of Randomized Controlled Trials.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis1 mentions
- 2026Ten-Year Trends in Haemophilia A Care in the East Mediterranean Region: Insights From WFH Annual Global Surveys (2014-2023).Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2026A New Risk-Based Scoring Approach to Individualize Prophylaxis in Patients with Hemophilia A: Results from the PREDICT Study.Advances in therapy1 mentions
- 2026The Prevalence of Coagulation Factor Deficiency Among Pediatric Populations in Medina City, Saudi Arabia.Clinical laboratory1 mentions
- 2026Challenges faced by women and girls with hemophilia/Carriers: an expert call for closing the diagnosis gap.Expert review of hematology1 mentions
- 2025Consensus-Based Expert Recommendations on the Management of Hemophilia A in the Gulf Region.Acta haematologica1 mentions
- 2025Comparing one stage, chromogenic assay results and discrepancies with bleeding phenotype and genetic variants in females with hemophilia A.Journal of thrombosis and haemostasis : JTH1 mentions
- 2025Use of antithrombotic therapy in patients with hemophilia: a selected synopsis of the European Hematology Association - International Society on Thrombosis and Haemostasis - European Association for Hemophilia and Allied Disorders - European Stroke Organization Clinical Practice Guidance document.Journal of thrombosis and haemostasis : JTH1 mentions
- 2025Treating genetic blood disorders in the era of CRISPR-mediated genome editing.Molecular therapy : the journal of the American Society of Gene Therapy1 mentions
- 2025Acute Compartment Syndrome in Congenital and Acquired Haemophilia.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2025A scan of pleiotropic immune mediated disease genes identifies novel determinants of baseline FVIII inhibitor status in hemophilia A.Genes and immunity1 mentions
- 2025Immune Tolerance Induction With a Recombinant Factor VIII Fc in Haemophilia A: Data From a Chart Review Study.European journal of haematology1 mentions
- 2025Chromogenic vs one-stage assay to diagnose women and girls with hemophilia A-mapping global approaches and assessing challenges: communication from the SSCs of the ISTH.Journal of thrombosis and haemostasis : JTH1 mentions
- 2025Effect of DNA methylation on inhibitor development in people with hemophilia A treated with FVIII concentrates.Research and practice in thrombosis and haemostasis1 mentions
- 2025The use of artificial intelligence in the prevention and management of bleeding disorders: a systematic review.Frontiers in medicine1 mentions
- 2024CRISPR-Cas9 system: a novel and promising era of genotherapy for beta-hemoglobinopathies, hematological malignancy, and hemophilia.Annals of hematology1 mentions
- 2024Multicenter assessment and longitudinal study of the prevalence of antibodies and related adaptive immune responses to AAV in adult males with hemophilia.Gene therapy1 mentions
- 2024Effects of Plyometric-Based Hydro-Kinesiotherapy on Pain, Muscle Strength, Postural Stability, and Functional Performance in Children with Hemophilic Knee Arthropathy: A Randomized Trial.Physical & occupational therapy in pediatrics1 mentions
- 2024Acute Abdominal Crisis in Type A Hemophilia: Unraveling Retroperitoneal Hematoma: A Case Report.The American journal of case reports1 mentions
- 2024A systematic review of cost-effectiveness analyses of gene therapy for hemophilia type A and B.Journal of managed care & specialty pharmacy1 mentions
- 2024Real-world impact of emicizumab and immunosuppression on acquired hemophilia A: a multicenter US cohort.Blood advances1 mentions
- 2024Hemophilia A: Economic burden, therapeutic advances, and future forecasts in the Middle East and North Africa region.Thrombosis research1 mentions
- 2023How to assess, detect, and manage joint involvement in the era of transformational therapies: Role of point-of-care ultrasound.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2023Depression and anxiety in persons with Von Willebrand disease.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2023Bibliometric analysis of the literature on von Willebrand disease: Research status and trends.Acta bio-medica : Atenei Parmensis1 mentions
- 2023Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B.The New England journal of medicine1 mentions
- 2023Cerebellar hematoma in severe hemophilia with inhibitor on emicizumab prophylaxis: a case report.Journal of medical case reports1 mentions
- 2023Trends in prescribing practices for management of haemophilia: 1999-2021.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2023Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities to transform the care of people with hemophilia.Expert review of hematology1 mentions
- 2023Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis1 mentions
- 2023Association of Genetic Variant FVIII Gene and Factor VIII: A Pilot Study Among Hemophilia A Female Relatives in Saudi Arabia.Cureus1 mentions
- 2023"Familial Multiple Coagulation Factor Deficiencies of FXI and FXII in an Asymptomatic Saudi Woman".Journal of investigative medicine high impact case reports1 mentions
- 2023Exploring the Link between Maternal Hematological Disorders during Pregnancy and Neurological Development in Newborns: Mixed Cohort Study.Life (Basel, Switzerland)1 mentions
- 2022People with congenital bleeding disorders perspectives on why dentists refused to treat them: An exploratory qualitative study using a card sorting technique.Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry1 mentions
- 2022Investigation of the Bleeding Tendency in Sudanese Female Carriers of Hemophilia B.BioMed research international1 mentions
- 2022Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings.The American journal of case reports1 mentions
- 2021Circumcision in Hemophilia: A Multicenter Experience.Journal of pediatric hematology/oncology1 mentions
- 2021BAX 335 hemophilia B gene therapy clinical trial results: potential impact of CpG sequences on gene expression.Blood1 mentions
- 2021Immune tolerance induction with antihaemophilia factor (human) in poor prognosis patients with haemophilia A.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2021A case report of acquired hemophilia following COVID-19 vaccine.Journal of thrombosis and haemostasis : JTH1 mentions
- 2021A survey on practice of circumcision in children with severe haemophilia in Eastern Mediterranean Region.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2021PERSEPT 3: A phase 3 clinical trial to evaluate the haemostatic efficacy of eptacog beta (recombinant human FVIIa) in perioperative care in subjects with haemophilia A or B with inhibitors.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2021The safety of activated eptacog beta in the management of bleeding episodes and perioperative haemostasis in adult and paediatric haemophilia patients with inhibitors.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2020Ocular bleeding in an undiagnosed hemophiliac neonate causing irreversible loss of vision: A case report with review of the literature.European journal of ophthalmology1 mentions
- 2020Pulsed Nd:YAG laser: effects on pain, postural stability, and weight-bearing pattern in children with hemophilic ankle arthropathy.Lasers in medical science1 mentions
- 2020Detection of hemophilia by fluorescence spectroscopy: A photodiagnosis approach.Photodiagnosis and photodynamic therapy1 mentions
- 2020Outreach and diagnosis: Saudi Arabia's experience.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2020Therapeutic value of kinesio taping in reducing lower back pain and improving back muscle endurance in adolescents with hemophilia.Journal of musculoskeletal & neuronal interactions1 mentions
- 2020Pseudotumor of hemophilia of the thumb.Saudi medical journal1 mentions
- 2020Factor VIII inhibitor development in Egyptian hemophilia patients: does intron 22 inversion mutation play a role?Italian journal of pediatrics1 mentions
- 2020The role of nursing in gene therapy for haemophilia.The Lancet. Haematology1 mentions
- 2019Identification of six novel factor viii gene variants using next generation sequencing and molecular dynamics simulation.Acta biochimica Polonica1 mentions
- 2019Once-weekly prophylaxis with glycoPEGylated recombinant factor VIII (N8-GP) in severe haemophilia A: Safety and efficacy results from pathfinder 2 (randomized phase III trial).Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2019REACH: A programme for improving care in haemophilia.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2019Pretruncal Nonaneurysmal Subarachnoid Hemorrhage with Underlying Hemophilia C.World neurosurgery1 mentions
- 2019Rare clotting factor deficiency among Sudanese children.Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis1 mentions
- 2019Switching patients in the age of long-acting recombinant products?Expert review of hematology1 mentions
- 2019The 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 Hemophilia1 mentions
- 2019Medically compromised patients in orthodontic practice: Review of evidence and recommendations.International orthodontics1 mentions
- 2018Major and Minor Classifications for Surgery in People With Hemophilia: A Literature Review.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis1 mentions
- 2018Recommendations on multidisciplinary management of elective surgery in people with haemophilia.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2018Impact of the 340B Pharmacy Program on Services and Supports for Persons Served by Hemophilia Treatment Centers in the United States.Maternal and child health journal1 mentions
- 2018Serum proteins C and S levels as early biomarkers for kidney dysfunction in hemophilic patients.African health sciences1 mentions
- 2017Home treatment of haemarthrosis with recombinant activated factor VII in patients with haemophilia A or B and inhibitors: experience from developing countries.Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis1 mentions
- 2017Low-factor consumption for major surgery in haemophilia B with long-acting recombinant glycoPEGylated factor IX.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2017The prevalence of factor VIII and IX inhibitors among Saudi patients with hemophilia: Results from the Saudi national hemophilia screening program.Medicine1 mentions
- 2017Accounting for differences in healthcare utilization and expenditures among US males with haemophilia by type of health insurance.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2017Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.Journal of clinical medicine research1 mentions
- 2017Safety and efficacy of recombinant activated coagulation factor VII in congenital hemophilia with inhibitors in the home treatment setting: A review of clinical studies and registries.American journal of hematology1 mentions
- 2017Prophylaxis use among males with haemophilia B in the United States.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2016Efficacy and safety of rVIII-SingleChain: results of a phase 1/3 multicenter clinical trial in severe hemophilia A.Blood1 mentions
- 2015Favourable impact of regular swimming in young people with haemophilia: experience derived from 'Desafio del Caribe' project.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2015Polymeric synthetic nanoparticles for the induction of antigen-specific immunological tolerance.Proceedings of the National Academy of Sciences of the United States of America1 mentions
- 2015Recombinant activated factor VII in the treatment of bleeds and for the prevention of surgery-related bleeding in congenital haemophilia with inhibitors.Blood reviews1 mentions
- 2015Characteristics of hemophilia patients with factor VIII inhibitors detected by prospective screening.American journal of hematology1 mentions
- 2015LASER versus electromagnetic field in treatment of hemarthrosis in children with hemophilia.Lasers in medical science1 mentions
- 2015Young adults with hemophilia in the U.S.: demographics, comorbidities, and health status.American journal of hematology1 mentions
- 2015Optimising musculoskeletal care for patients with haemophilia.European journal of haematology1 mentions
- 2014Association of overweight and obesity with the use of self and home-based infusion therapy among haemophilic men.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2014Acute kidney injury in a diabetic haemophiliac: one step at a time.BMJ case reports1 mentions
- 2014Risk assessment for coronary heart disease in patients with haemophilia: a single centre study in the United States.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2014SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.The Journal of clinical endocrinology and metabolism1 mentions
- 2014A public health approach to the prevention of inhibitors in hemophilia.American journal of preventive medicine1 mentions
- 2013Hemophilia A and hemophilia B: focus on arthropathy and variables affecting bleeding severity and prophylaxis.Journal of thrombosis and haemostasis : JTH1 mentions
- 2012Utilization patterns and associated costs of factor assistance programmes among persons with haemophilia: a single institution review.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2012Multidisciplinary management of patients with haemophilia with inhibitors undergoing surgery in the United States: perspectives and best practices derived from experienced treatment centres.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2012letter to Hajiani E, Hashemi SJ, Masjedizadeh A, Shayesteh AA, Jalali F. Genotypic Analysis of Hepatitis C Virus in Khuzestan Province, Southwestern Iran. Middle East J Dig Dis 2011;3:126-30.Middle East journal of digestive diseases1 mentions
- 2010Study of clinical characteristics, presentation, and complications among patients with congenital coagulation disorders.Saudi medical journal1 mentions
- 2010High school completion rates among men with hemophilia.American journal of preventive medicine1 mentions
- 2010Health economics in haemophilia: a review from the clinician's perspective.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2009Rituximab as a single agent in the management of adult patients with haemophilia A and inhibitors: marked reduction in inhibitor level and clinical improvement in bleeding but failure to eradicate the inhibitor.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2009Molecular genotyping of hemophilia A in Saudi Arabia: report of 2 novel mutations.Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis1 mentions
- 2008The spectrum of inherited bleeding disorders in pediatrics.Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis1 mentions
- 2007Pathogenesis of haemophilic synovitis: clinical aspects.Haemophilia : the official journal of the World Federation of Hemophilia1 mentions
- 2007Hepatitis B and C virus infections in patients with hemophilia in Zahedan, southeast Iran.Saudi medical journal1 mentions
- 2006Pathogenesis of hemophilic arthropathy.Seminars in hematology1 mentions
- 2006School absenteeism in boys with hemophilia.Saudi medical journal1 mentions