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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 19, 2024
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Towards Personalized Treatment in Hemophilia: The Role of Genetic Factors in Iron and Heme Control to Identify Patients at Risk for Haemophilic Arthropathy
LFD van Vulpen et al, JPM, January 26, 2024
KNOWLEDGE AND ATTITUDES TOWARDS GENE THERAPY OF A COHORT OF ITALIAN PATIENTS WITH HAEMOPHILIA.
Ilaria Cutica et al. J Thromb Haemost 2023
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Using Real-World Data to Inform Value-Based Contracts for Cell and Gene Therapies in Medicaid.
Antal Zemplenyi et al. Pharmacoeconomics 2023
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Etranacogene dezaparvovec for the treatment of adult patients with severe and moderately severe hemophilia B.
Giancarlo Castaman et al. Expert Rev Hematol 2023
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Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
Lingrong Kong et al. Clin Genet 2023
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Psychological Burden Among Patients With Inherited Bleeding Disorders in Madinah Province, Saudi Arabia.
Mohammed A Zolaly et al. Cureus 2023 15(9) e45165
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How do people inherit hemophilia?
Medical News Today, September 2023
Hemostasis - A Balancing Act.
H Marijke van den Berg et al. N Engl J Med 2023 389(9) 853-856
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Phase 3 Trial of Concizumab in Hemophilia with Inhibitors.
Tadashi Matsushita et al. N Engl J Med 2023 389(9) 783-794
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Association of Genetic Variant FVIII Gene and Factor VIII: A Pilot Study Among Hemophilia A Female Relatives in Saudi Arabia.
Abdullah T Almohammadi et al. Cureus 2023 15(7) e42038
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Researchers uncover mysteries behind immune response to hemophilia A treatment
Medical XPress, August 2023
Community Counts: Understanding Hemophilia and Other Bleeding Disorders through Public Health Surveillance
CDC webinar, August 24, 2023
Development of a haemophilia A gene therapy shared decision-making tool for clinicians.
Jacqueline Limjoco et al. Haemophilia 2023
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The effectiveness and value of gene therapy for hemophilia: A Summary from the Institute for Clinical and Economic Review's California Technology Assessment Forum.
Jeffrey A Tice et al. J Manag Care Spec Pharm 2023 29(5) 576-581
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Gene Therapy for Hemophilia A: A Mixed Methods Study of Patient Preferences and Shared Decision-Making.
Jacqueline Limjoco et al. Patient Prefer Adherence 2023 171093-1105
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Efficacy and safety of fitusiran prophylaxis in people with haemophilia A or haemophilia B with inhibitors (ATLAS-INH): a multicentre, open-label, randomised phase 3 trial.
Guy Young et al. Lancet 2023 401(10386) 1427-1437
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Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities to transform the care of people with hemophilia.
Duc Q Tran et al. Expert review of hematology 2023 16(sup1) 19-37
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Trends in prescribing practices for management of haemophilia: 1999-2021.
Randall Curtis et al. Haemophilia : the official journal of the World Federation of Hemophilia 2023
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Expectation and loss when gene therapy for haemophilia is not an option: An exigency sub-study.
Simon Fletcher et al. Haemophilia : the official journal of the World Federation of Hemophilia 2023
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Hemophilia A Gene Therapy - Some Answers, More Questions.
Lindsey A George et al. The New England journal of medicine 2023 388(8) 761-763
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The emotional experience of mothers of children with haemophilia: maternal guilt, effective coping strategies and resilience within the haemophilia community.
Nina Sheridan et al. Haemophilia : the official journal of the World Federation of Hemophilia 2023
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The ethics of gene therapy for hemophilia: a narrative review.
Lieke Baas et al. Journal of thrombosis and haemostasis : JTH 2023
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Efanesoctocog alfa for hemophilia A: results from a phase 1 repeat-dose study.
Toshko Lissitchkov et al. Blood advances 2021 6(4) 1089-1094
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Gene therapy preferences and informed decision-making: Results from a National Hemophilia Foundation Community Voices in research survey.
Limjoco Jacqueline et al. Haemophilia : the official journal of the World Federation of Hemophilia 2022
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Laying the foundations for gene therapy in Italy for patients with haemophilia A: A Delphi consensus study.
Castaman Giancarlo et al. Haemophilia : the official journal of the World Federation of Hemophilia 2022
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Global epidemiology of factor XI deficiency: A targeted review of the literature and foundation reports.
Zhang Xinruo et al. Haemophilia : the official journal of the World Federation of Hemophilia 2022
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Current challenges in hemophilia genetics and how they can be overcome
JM Johnson, Nat Cardiovasc Research, October 2022
Challenges and knowledge gaps facing hemophilia carriers today: Perspectives from patients and health care providers.
Chaigneau Megan et al. Research and practice in thrombosis and haemostasis 2022 6(6) e12783
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Progress, and prospects in the therapeutic armamentarium of persons with congenital hemophilia. Defining the place for liver-directed gene therapy.
Di Minno Giovanni et al. Blood reviews 2022 101011
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Psychometric Validation of the Haemo-QOL-A in Participants with Hemophilia A Treated with Gene Therapy.
Quinn Jennifer et al. Patient related outcome measures 2022 13169-180
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 19, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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