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Hemophilia Treatment and Research
Research Guide
What is Hemophilia Treatment and Research?
Hemophilia Treatment and Research is the study and management of hemophilia through strategies including prophylaxis, inhibitor management, gene therapy, and interventions to preserve joint health using recombinant factor VIII, factor IX, and other coagulation factors.
The field encompasses 47,853 published works on hemophilia management. Prophylaxis with recombinant factor VIII prevents joint damage and reduces hemorrhage frequency in boys with severe hemophilia A, as shown in a randomized trial. Guidelines provide evidence-based recommendations for diagnosis, general management, and complications such as inhibitors and musculoskeletal issues.
Topic Hierarchy
Research Sub-Topics
Hemophilia Prophylaxis
This sub-topic examines prophylactic regimens using factor VIII or IX to prevent bleeding episodes in hemophilia patients. Researchers study dosing strategies, adherence, and long-term outcomes on joint health.
Factor VIII Inhibitors
This sub-topic investigates the development, detection, and immune tolerance induction for neutralizing antibodies against factor VIII in hemophilia A. Studies focus on risk factors, eradication therapies, and recombinant bypassing agents.
Hemophilia Gene Therapy
This sub-topic covers AAV-mediated gene transfer for sustained factor VIII or IX expression in hemophilia patients. Researchers evaluate vector safety, durability of transgene expression, and clinical trial outcomes.
Hemophilic Arthropathy
This sub-topic explores the pathophysiology, imaging, and management of chronic joint damage from recurrent hemarthroses in hemophilia. Research includes biomarkers of synovitis and interventions to halt progression.
Recombinant Coagulation Factors
This sub-topic assesses the pharmacokinetics, immunogenicity, and comparative efficacy of recombinant factor VIII and IX products versus plasma-derived alternatives. Studies emphasize half-life extended formulations.
Why It Matters
Prophylaxis versus episodic treatment significantly reduces joint disease in boys with severe hemophilia, with Manco-Johnson et al. (2007) demonstrating in a clinical trial (NCT00207597) that regular recombinant factor VIII infusions lowered joint hemorrhage rates and preserved joint structure compared to on-demand therapy. Guidelines by Srivastava et al. (2012) and Srivastava et al. (2020) standardize management of complications like inhibitors and transfusions, improving outcomes in hemophilia care worldwide. These approaches, including desmopressin for Hemophilia A and von Willebrand disease, have reduced exposure to plasma-derived products over 35 years, enhancing patient safety.
Reading Guide
Where to Start
"Prophylaxis versus Episodic Treatment to Prevent Joint Disease in Boys with Severe Hemophilia" by Manco-Johnson et al. (2007), as it provides clinical trial evidence on a core treatment strategy with direct impact on joint health.
Key Papers Explained
Manco-Johnson et al. (2007) "Prophylaxis versus Episodic Treatment to Prevent Joint Disease in Boys with Severe Hemophilia" establishes prophylaxis efficacy with recombinant factor VIII. Srivastava et al. (2012) "Guidelines for the management of hemophilia" builds on this with comprehensive management recommendations including inhibitors. Srivastava et al. (2020) "WFH Guidelines for the Management of Hemophilia, 3rd edition" updates these guidelines. Revel-Vilk et al. (2013) "Hematological Problems in Pediatric Intensive Care" applies treatments like desmopressin in practice. Monroe and Hoffman (2001) "A Cell-based Model of Hemostasis" offers foundational hemostasis understanding.
Paper Timeline
Most-cited paper highlighted in red. Papers ordered chronologically.
Advanced Directions
Recent guidelines emphasize updated management of inhibitors and joint disease, as in Srivastava et al. (2020). No preprints or news from the last 12 months indicate focus remains on established prophylaxis and guideline implementation.
Papers at a Glance
| # | Paper | Year | Venue | Citations | Open Access |
|---|---|---|---|---|---|
| 1 | Mutation in blood coagulation factor V associated with resista... | 1994 | Nature | 3.8K | ✕ |
| 2 | Hematological Problems in Pediatric Intensive Care | 2013 | Pediatric and adolesce... | 3.5K | ✕ |
| 3 | Familial thrombophilia due to a previously unrecognized mechan... | 1993 | Proceedings of the Nat... | 2.0K | ✓ |
| 4 | Prophylaxis versus Episodic Treatment to Prevent Joint Disease... | 2007 | New England Journal of... | 1.9K | ✓ |
| 5 | Guidelines for the management of hemophilia | 2012 | Haemophilia | 1.9K | ✓ |
| 6 | Hemostasis and Thrombosis: Basic Principles and Clinical Pract... | 1988 | Annals of Internal Med... | 1.9K | ✕ |
| 7 | The coagulation cascade: initiation, maintenance, and regulation | 1991 | Biochemistry | 1.8K | ✕ |
| 8 | WFH Guidelines for the Management of Hemophilia, 3rd edition | 2020 | Haemophilia | 1.7K | ✓ |
| 9 | A Cell-based Model of Hemostasis | 2001 | Thrombosis and Haemost... | 1.5K | ✕ |
| 10 | Permanent cell line expressing human factor VIII-related antig... | 1983 | Proceedings of the Nat... | 1.5K | ✓ |
Frequently Asked Questions
What is the benefit of prophylaxis in severe hemophilia?
Prophylaxis with recombinant factor VIII prevents joint damage and decreases the frequency of joint and other hemorrhages in young boys with severe hemophilia A. Manco-Johnson et al. (2007) showed this in a randomized trial comparing prophylaxis to episodic treatment. The study was registered as NCT00207597.
How do guidelines address hemophilia management?
Guidelines offer practical recommendations on diagnosis, general management, and complications including musculoskeletal issues, inhibitors, and transfusions. Srivastava et al. (2012) provide evidence-based advice for hemophilia care. The 3rd edition by Srivastava et al. (2020) updates these for the World Federation of Hemophilia.
What role does desmopressin play in hemophilia treatment?
Desmopressin (DDAVP) has treated children with Hemophilia A and von Willebrand disease for nearly 35 years. Revel-Vilk et al. (2013) note it lowers exposure to human plasma-derived products with a good safety profile. It is used in pediatric intensive care hematological management.
What are key models in hemostasis research relevant to hemophilia?
A cell-based model of hemostasis emphasizes cellular influence on coagulation beyond protein factors alone. Monroe and Hoffman (2001) developed this model based on in vivo mechanisms. It applies to understanding hemophilia treatment efficacy.
What complications does hemophilia research target?
Research targets joint disease, inhibitors, and coagulation disorders in hemophilia management. Prophylaxis prevents joint damage, as per Manco-Johnson et al. (2007). Guidelines by Srivastava et al. (2012) cover inhibitor and musculoskeletal management.
Open Research Questions
- ? How can gene therapy achieve long-term factor VIII expression without inhibitors in severe hemophilia A?
- ? What dosing regimens optimize prophylaxis to completely eliminate joint disease in boys with hemophilia?
- ? Which cellular mechanisms in the hemostasis model best predict responses to recombinant factor VIIa in inhibitor patients?
- ? How do mutations like factor V resistance impact hemophilia treatment outcomes?
- ? What prophylaxis strategies minimize transfusion needs in pediatric hemophilia cases?
Recent Trends
The field holds at 47,853 papers with no reported 5-year growth data.
The most recent high-citation work is Srivastava et al. "WFH Guidelines for the Management of Hemophilia, 3rd edition" with 1738 citations, advancing from Srivastava et al. (2012).
2020No preprints or news in the last 12 months noted.
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