Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (910 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Hemophilia As; Classic Hemophilia; Classic Hemophilias; Hemophilias, Classic; Haemophilia; Hemophilia; Hemophilia A, Congenital; Congenital Hemophilia A.
Where it fits in the MeSH classification
- Broader topics
- Blood Coagulation Disorders, Inherited; Coagulation Protein Disorders; Hemorrhagic Disorders
- See also
- Hemophilia B; Factor VIII; Hemarthrosis
Research landscape
PubMed indexes 24,355 records tagged with the MeSH heading “Hemophilia A” (counts retrieved 2026-10-29). 3,763 of them (15.5%) were published from 2020 onward, and the busiest period so far is through 1999 with 11,344 records.
Reviews account for 3,633 records (14.9%) and meta-analyses for 109. Randomized controlled trials number 258 (1.1%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 11,344 |
| 2000-2009 | 4,040 |
| 2010-2019 | 5,208 |
| 2020 onward | 3,763 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 3,633 | 14.9% |
| Meta-analyses | 109 | 0.4% |
| Randomized controlled trials | 258 | 1.1% |
Method: PubMed query "Hemophilia A"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
Perioperative Management With Efanesoctocog Alfa in Patients With Haemophilia A in the Phase 3 XTEND-1 and XTEND-Kids Studies [1]
Abstract reading summary — source excerpts
- Opening excerpt
- IntroductionThe Phase 3 studies, XTEND-1 (NCT04161495) and XTEND-Kids (NCT04759131), showed once-weekly efanesoctocog alfa provided high-sustained factor VIII (FVIII) activity levels that translated into highly effective bleed prevention in patients with severe haemophilia A.
- Closing excerpt
- gov/study/NCT04759131.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (233 words)
IntroductionThe Phase 3 studies, XTEND-1 (NCT04161495) and XTEND-Kids (NCT04759131), showed once-weekly efanesoctocog alfa provided high-sustained factor VIII (FVIII) activity levels that translated into highly effective bleed prevention in patients with severe haemophilia A.AimThis analysis evaluated the efficacy and safety of efanesoctocog alfa for perioperative management during XTEND-1 and XTEND-Kids.MethodsPatients undergoing major or minor surgery were to receive a single preoperative 50 IU/kg dose, with additional 30 or 50 IU/kg doses every 2-3 days as needed following major surgery. Outcomes assessed included FVIII activity levels, number and dose of efanesoctocog alfa injections, surgeon's/investigator's assessment of haemostatic response, total factor consumption, estimated blood loss, number and type of blood transfusions, and safety.ResultsIn XTEND-1, 11 adults/adolescents underwent 12 evaluable major surgeries (6 orthopaedic). Eleven surgeries had one preoperative dose (median [range]: 49.9 [13-52] IU/kg); one had no preoperative dose. Median (range) total consumption from Day -1 to 14 was 163.3 (45-361) IU/kg. In XTEND-Kids, two children underwent major surgery with a single preoperative loading dose (60.4 and 61.9 IU/kg). Across trials, 15 adults/adolescents underwent 18 minor surgeries and 8 children underwent 9 minor surgeries, with a single preoperative dose or no preoperative dose (5 surgeries in adults/adolescents). Haemostatic response was rated excellent for all surgeries. No surgeries required blood transfusion. No safety concerns or inhibitor development was reported.ConclusionEfanesoctocog alfa provided highly effective perioperative protection in patients with severe haemophilia A.Trial registrationXTEND-1: NCT04161495 https://clinicaltrials.gov/study/NCT04161495; XTEND-Kids: NCT04759131 https://clinicaltrials.gov/study/NCT04759131.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 40099428 · DOI · PMC12175115
Factors Influencing Symptoms of Depression, Anxiety and Stress in Patients With Haemophilia [2]
Abstract reading summary — source excerpts
- Opening excerpt
- IntroductionPatients with haemophilia (PwH) often suffer from psychological symptoms such as depression or anxiety.
- Closing excerpt
- Particularly, pain-related outcomes, but also joint degeneration and the presence of viral infections, are related to enhanced psychological symptoms.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (243 words)
IntroductionPatients with haemophilia (PwH) often suffer from psychological symptoms such as depression or anxiety. To date, uncertainty exists about the determinants predicting worse psychological outcomes. Therefore, this study aimed to investigate the extent of depressive, anxiety and stress-related symptoms in PwH compared to the healthy population and determine the impact of disease-specific and arthropathy-related parameters.MethodsLevels of depression, anxiety, stress and overall emotional distress were queried in a total of 379 PwH and 271 healthy controls by handing out the Depression, Anxiety and Stress Scale 21. In addition, disease-specific variables (e.g., type, severity, viral infections), pain intensity (NRS from 0 to 10), pain persistence (Likert-scale from 1 to 6), pain sensitivity (pressure pain thresholds [PPT]) and the orthopaedic joint score (Haemophilia Joint Health Score v2.1; HJHS) were assessed to analyse associations with psychological symptoms.ResultsPwH had higher scores for depression, anxiety, stress and overall emotional distress compared to the healthy cohort. Regarding disease-specific outcomes, only PwH with hepatitis or HIV showed higher scores for depression (hepatitis, p = 0.020), stress (hepatitis, p = 0.005; HIV, p = 0.048) and overall emotional distress (hepatitis, p = 0.020). Spearman's rank correlation further revealed significant associations between NRS, pain persistence, PPT and HJHS with all psychological outcomes, though most effect sizes were weak.ConclusionThese results provide further evidence for a poorer psychological profile in PwH compared to the healthy population. Particularly, pain-related outcomes, but also joint degeneration and the presence of viral infections, are related to enhanced psychological symptoms.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 40577422 · DOI · PMC12462555
Navigating the Transition From Adolescence to Adulthood Among Young People With Severe Haemophilia: The Qualitative Phase of the TRANSHEMO Project [3]
Abstract reading summary — source excerpts
- Opening excerpt
- IntroductionHaemophilia causes spontaneous or prolonged bleeding due to a deficiency in clotting factor VIII (haemophilia A) or IX (haemophilia B).
- Closing excerpt
- ConclusionBased on the enlightened determinants, supportive strategies and patient education programs should focus on the development of autonomy, personal factors such as acquisition and application of health literacy in haemophilia care, and family factors such as support from family.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (234 words)
IntroductionHaemophilia causes spontaneous or prolonged bleeding due to a deficiency in clotting factor VIII (haemophilia A) or IX (haemophilia B). Although substitutive therapies and regular follow-up can prevent severe haemorrhagic events, adherence to treatment remains a challenge. Transitioning from adolescence to adulthood and from paediatric to adult care is particularly complex for young people with severe haemophilia (PwSH), as it involves gaining autonomy in health management.ObjectivesThis study aimed to explore factors influencing the success of the transition process in young PwSH, with a focus on adherence to healthcare.MethodsThis qualitative study was part of the mixed-methods TRANSHEMO project. Participants were selected from the quantitative phase of the TRANSHEMO project based on two criteria: adolescents/young adults and adherent/nonadherent to healthcare. Interviews were conducted via video conferencing, transcribed, and thematically analysed to identify key themes affecting the transition process.ResultsTwenty-two interviews were conducted. Four major themes emerged as critical to transition success: (1) Care factors [continuity of care, treatment rituals, and evolving therapies]; (2) Family and social factors [support from family, friends, peers, and overprotection]; (3) Personal factors [understanding haemophilia, risk management, optimism, and coping strategies]; and (4) Autonomy [secondary benefits, independence, proactivity in disease management, and accompaniment by caregivers].ConclusionBased on the enlightened determinants, supportive strategies and patient education programs should focus on the development of autonomy, personal factors such as acquisition and application of health literacy in haemophilia care, and family factors such as support from family.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 40932388 · DOI · PMC12612361
Challenges in Balancing Hemostasis and Thrombosis in Therapy Tailoring for Hemophilia: A Narrative Review [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Hemostasis and thrombosis reflect a delicate balance, regulated by the interplay between procoagulant and anticoagulant mechanisms.
- Closing excerpt
- Finally, this review highlights the need for global laboratory assays to personalize treatments, emphasizing strategies to optimize safety and efficacy, particularly as hemophilia patients live longer with complex comorbidity profiles.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (200 words)
Hemostasis and thrombosis reflect a delicate balance, regulated by the interplay between procoagulant and anticoagulant mechanisms. Hemophilia is traditionally viewed as a bleeding disorder, but emerging evidence highlights the paradoxical risks of thrombosis in hemophilia patients. We explore the landscape of hemophilia management, emphasizing challenges of balancing hemostasis in the context of aging, novel non-factor replacement therapies (NRTs), and comorbidity-driven thrombotic complications. Therapeutic approaches, including innovative NRTs, such as emicizumab, or rebalancing agents (e.g., concizumab, marstacimab, fitusiran), offer promising advancements in bleeding prophylaxis but may increase thrombotic risks. Conversely, novel anticoagulants, such as FXI inhibitors, offer potential thrombosis protection with minimal bleeding risk. Our review examines the impact of aging-related comorbidities, including cardiovascular disease, atrial fibrillation, HIV-associated complications, and acute coronary syndromes, on thrombotic risk in hemophilia patients. Evidence-based strategies for balancing hemostasis and thrombosis are outlined alongside experimental models, thrombin generation assays, and advancements in rebalancing coagulation through natural anticoagulant modulation. FXI inhibition emerges as a paradigm shift in thrombosis management, offering reduced bleeding risks while preserving vascular health. Finally, this review highlights the need for global laboratory assays to personalize treatments, emphasizing strategies to optimize safety and efficacy, particularly as hemophilia patients live longer with complex comorbidity profiles.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41683793 · DOI · PMC12898652
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males: A Meta-analytic Approach Using National Registries [5]
- Research article Adeno-Associated Virus Gene Therapy for Hemophilia [6]
- Research article Gene therapy for hemophilia [7]
- Research article Valoctocogene Roxaparvovec: First Approval [8]
- Research article The prognosis and treatment of acquired hemophilia: a systematic review and meta-analysis [9]
- Research article International Society on Thrombosis and Haemostasis clinical practice guideline for treatment of congenital hemophilia A and B based on the Grading of Recommendations Assessment, Development, and Evaluation methodology [10]
References
- Klamroth R, von Drygalski A, Hermans C, Park YS, Chan AKC, Kupesiz A, et al.. Perioperative Management With Efanesoctocog Alfa in Patients With Haemophilia A in the Phase 3 XTEND-1 and XTEND-Kids Studies. . 2025. PMID 40099428 · DOI · PMC12175115
- Schmidt A, Tomschi F, Möllers P, Brühl M, Richter H, Oldenburg J, et al.. Factors Influencing Symptoms of Depression, Anxiety and Stress in Patients With Haemophilia. . 2025. PMID 40577422 · DOI · PMC12462555
- Roques MA, Rosso-Delsemme N, Celli A, Nguyen NAT, Postzich M, Castet S, et al.. Navigating the Transition From Adolescence to Adulthood Among Young People With Severe Haemophilia: The Qualitative Phase of the TRANSHEMO Project. . 2025. PMID 40932388 · DOI · PMC12612361
- Kenet G, Levy-Mendelovich S, Livnat T, Brenner B. Challenges in Balancing Hemostasis and Thrombosis in Therapy Tailoring for Hemophilia: A Narrative Review. . 2026. PMID 41683793 · DOI · PMC12898652
- Iorio A, Stonebraker JS, Chambost H, Makris M, Coffin D, Herr C, et al.. Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males: A Meta-analytic Approach Using National Registries. Ann Intern Med. 2019. PMID 31499529 · DOI
- Samelson-Jones BJ, George LA. Adeno-Associated Virus Gene Therapy for Hemophilia. Annu Rev Med. 2023. PMID 36103998 · DOI · PMC9892335
- Nathwani AC. Gene therapy for hemophilia. Hematology Am Soc Hematol Educ Program. 2022. PMID 36485127 · DOI · PMC9821304
- Blair HA. Valoctocogene Roxaparvovec: First Approval. Drugs. 2022. PMID 36214970 · DOI
- Bitting RL, Bent S, Li Y, Kohlwes J. The prognosis and treatment of acquired hemophilia: a systematic review and meta-analysis. Blood Coagul Fibrinolysis. 2009. PMID 19644360 · DOI
- Rezende SM, Neumann I, Angchaisuksiri P, Awodu O, Boban A, Cuker A, et al.. International Society on Thrombosis and Haemostasis clinical practice guideline for treatment of congenital hemophilia A and B based on the Grading of Recommendations Assessment, Development, and Evaluation methodology. J Thromb Haemost. 2024. PMID 39043543 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.