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Hemophilia: Current Trends and Future Directions
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Hemophilia: Current Trends and Future Directions

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: closed (25 March 2026) | Viewed by 6561

Special Issue Editors

Dr. Jonathan C. Roberts

E-Mail Website
Guest Editor
1. Bleeding & Clotting Disorders Institute, Dills Family Foundation Center for Research at BCDI, Peoria, IL, USA
2. Departments of Pediatrics and Medicine, University of Illinois College of Medicine at Peoria, Peoria, IL, USA
Interests: hemophilia; Von Willebrand disease; coagulation laboratory testing; hemostasis; thrombosis; platelet disorders; patient-centered outcome measures; anticoagulation
Special Issues, Collections and Topics in MDPI journals
Dr. Michael B. Nichol

E-Mail Website
Guest Editor
Sol Price School of Public Policy, University of Southern California, Los Angeles, CA 90089, USA
Interests: hemophilia; prophylaxis; gene therapy; burden of illness; quality of life; patient-reported outcomes
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Hemophilia diagnosis and treatment have evolved significantly in the recent twenty years. Increasing attention is being paid to the burden of illness, quality of life, and treatment preferences for individuals with this disorder. While principal outcomes frequently measure bleeds, joint arthropathy, and pain, other quality-of-life considerations may be important to patients. Most importantly, there is recognition that this disorder affects individuals across the globe, including women who have been under-recognized with hemophilia. Moreover, international efforts have advocated for broader treatment and treatment options.

With the development of a variety of new treatments, it is essential to develop and assess research on treatment outcomes. In addition to clinical trials, observational studies can provide insights into treatment effects and predictors of success. The focus of this Special Issue is to report on new areas of treatment, new measurements being used to identify treatment effects, and treatment outcomes. This Issue will also consider the potential impacts of treatments presently under development and how clinicians may adopt them.

Dr. Jonathan C. Roberts
Dr. Michael B. Nichol
Guest Editors

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • hemophilia
  • prophylaxis
  • gene therapy
  • burden of illness
  • quality of life
  • patient reported outcomes
  • hemarthrosis
  • women and hemophilia

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Related Special Issue

Published Papers (6 papers)

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Research

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14 pages, 244 KB  
Article
Association of Patient-Reported Outcomes with Hemophilia A Inhibitor Status and Treatment Product Type
by Megan M. Ullman, Marilyn J. Manco-Johnson, Jonathan C. Roberts, Nicole Crook, Randall Curtis, Judith R. Baker, Joanne Wu and Michael B. Nichol
J. Clin. Med. 2026, 15(4), 1517; https://doi.org/10.3390/jcm15041517 - 14 Feb 2026
Viewed by 784
Abstract
Objectives: We compared patient-reported outcomes (PROs) in persons with hemophilia A (PwHA) by inhibitor status and prescribed treatment products. Methods: Hematology Utilization Group VIII study enrolled PwHA aged ≥ 2 years to collect PRO data via surveys. A clinical chart review documented the [...] Read more.
Objectives: We compared patient-reported outcomes (PROs) in persons with hemophilia A (PwHA) by inhibitor status and prescribed treatment products. Methods: Hematology Utilization Group VIII study enrolled PwHA aged ≥ 2 years to collect PRO data via surveys. A clinical chart review documented the hemophilic severity, inhibitor level and treatment regimen. PROs were compared across inhibitor status and prescribed treatment products. Results: Among 85 enrolled PwHA, 9 (10.6%) had active inhibitors, 22 (25.9%) had tolerized inhibitors, and 54 (63.5%) had no inhibitors. The no-inhibitor group was significantly older (mean: 29.3 ± 13.5 years) than the tolerized (16.3 ± 9.5 years) and active inhibitor (21.9 ± 19.1 years; p = 0.001) groups. A larger proportion of participants with active inhibitors (66.7%) and no inhibitors (53.7%) reported having bleeds in the previous month compared to those with tolerized inhibitors (22.7%, p = 0.02). After covariate adjustment for age and hemophilia severity, the tolerized inhibitor group showed the lowest estimated number of joint bleeds compared to those of the no inhibitor and active inhibitor groups (p = 0.08), and the highest EQ-5D index score (p = 0.09). Emicizumab users reported significantly fewer bleeds in the previous months than those who were prescribed standard or extended half-life factor VIII (33.3% vs. 58.6%, 64.3%, p = 0.04). Conclusions: Participants with active inhibitors experienced joint bleeding rates similar to those of participants without inhibitors, likely attributable to emicizumab use. Tolerized participants reported the fewest joint bleeds and highest quality-of-life scores, potentially reflecting younger age and possible greater prophylaxis adherence. Emicizumab was associated with lower bleed rates compared to standard or extended half-life factor VIII products. Full article
(This article belongs to the Special Issue Hemophilia: Current Trends and Future Directions)
11 pages, 722 KB  
Article
Enhancing Hemophilia A Care Through Home-Based Prophylaxis: Real-World Outcomes of a National Patient Support Program in Mexico
by Israel Rico-Alba, Alberto Retana Guzmán, Horacio Marquez-Gonzalez and Jessie Nallely Zurita-Cruz
J. Clin. Med. 2026, 15(3), 1217; https://doi.org/10.3390/jcm15031217 - 4 Feb 2026
Viewed by 545
Abstract
Background/Objectives: Patient Support Programs (PSPs) are increasingly used to support treatment adherence and continuity of care in chronic, high-cost conditions. In hemophilia A, consistent prophylaxis is essential to prevent bleeding episodes and long-term joint damage. In Mexico, disparities in access to treatment have [...] Read more.
Background/Objectives: Patient Support Programs (PSPs) are increasingly used to support treatment adherence and continuity of care in chronic, high-cost conditions. In hemophilia A, consistent prophylaxis is essential to prevent bleeding episodes and long-term joint damage. In Mexico, disparities in access to treatment have encouraged the development of public–industry collaborative models. The objective of this study was to describe the structure, implementation, and operational characteristics of a PSP delivering home-based prophylactic treatment for individuals with hemophilia A in Mexico, and to compare annual bleeding rates according to factor VIII dosing adequacy. Methods: A cross-sectional, retrospective analysis was conducted using fully anonymized operational data from the PSP registry between January 2023 and March 2024. Variables included infusion location and administrator, prescribed and used doses, weekly infusion frequency, program incorporation and discontinuation, geographic coverage, and bleeding events. Annual bleeding rates were compared across dosing categories using Poisson regression models with patient-years as an offset. Results: A total of 1173 patients contributed 16,331 infusion records. Participants were predominantly male (99.8%), with a median age of 26 years; 71.8% had severe hemophilia. Home infusion accounted for 92.0% of administrations, primarily self-administered or caregiver-delivered. The median prescribed and used monthly doses were 18,000 IU and 16,000 IU, respectively, with dose concordance observed in 66.8% of records. Only 40.7% of patients achieved the recommended prophylactic frequency of three infusions per week. Geographic coverage increased from 62.5% to 71.9% of states. The overall annualized bleeding rate was 2.24 bleeds per patient-year. When stratified by dosing adequacy, patients receiving doses consistent with clinical recommendations showed the lowest bleeding rate (0.18 bleeds per patient-year), compared with those with overdosing (3.84) and underdosing (6.68), with statistically significant differences between groups. Knees, elbows, and ankles were the most frequently affected sites. Conclusions: This PSP achieved broad national reach and high adoption of home-based infusion. The observed dose-dependent differences in bleeding rates underscore the clinical relevance of appropriate prophylactic dosing within structured support programs and support the value of PSPs in strengthening treatment continuity in middle-income settings. Full article
(This article belongs to the Special Issue Hemophilia: Current Trends and Future Directions)
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21 pages, 292 KB  
Article
Eight-Week Resistance Training and Manual Therapy in Young Patients with Severe Hemophilia: A Case Series Evaluating Functional, Imaging, and Immunological Outcomes
by Krystian Guzmann, Bartosz Wilczyński, Marta Jaskulak, Julia Radoń-Proskura, Arkadiusz Szarmach, Andrzej Mital and Katarzyna Zorena
J. Clin. Med. 2025, 14(23), 8419; https://doi.org/10.3390/jcm14238419 - 27 Nov 2025
Viewed by 1099
Abstract
Background: Hemophilia A and B are hereditary bleeding disorders that result in recurrent joint and muscle hemorrhages, leading to hemophilic arthropathy, muscle atrophy, and disability. Recent evidence suggests that physiotherapeutic interventions, including resistance training and manual therapy, may mitigate these effects, although [...] Read more.
Background: Hemophilia A and B are hereditary bleeding disorders that result in recurrent joint and muscle hemorrhages, leading to hemophilic arthropathy, muscle atrophy, and disability. Recent evidence suggests that physiotherapeutic interventions, including resistance training and manual therapy, may mitigate these effects, although comprehensive studies remain limited. This case series aimed to describe the outcomes of an eight-week physiotherapy program combining progressive resistance training and manual therapy in four adolescent boys (aged 11–17 years) with severe hemophilia. Methods: The program targeted joint function, muscle strength, ultrasound findings, and pain, with additional exploratory evaluation of neuroinflammatory and endothelial biomarkers: interleukin-18 (IL-18), C-C motif chemokine ligand 2 (CCL2), soluble intercellular adhesion molecule-1 (ssICAM-1), β-nerve growth factor (β-NGF), and soluble receptor for advanced glycation end-products (sRAGE). Results: After the intervention, Hemophilia Joint Health Score (HJHS) total scores decreased by 35–62%, indicating functional improvement, while muscle strength increased across most joints. No progression of arthropathy was observed on ultrasound (HEAD-US). IL-18 and ssICAM-1 levels decreased on average by 42% and 29%, respectively, whereas β-NGF and sRAGE increased by 39% and 11%, suggesting potential anti-inflammatory and neuroprotective responses. Conclusions: These descriptive findings indicate that individualized physiotherapy may serve as a supportive component of hemophilia care, while biomarker monitoring provides exploratory insight into treatment-related physiological responses. Full article
(This article belongs to the Special Issue Hemophilia: Current Trends and Future Directions)
9 pages, 220 KB  
Article
The VincerEmo Pilot Study: Prospective Analysis of Controlled Physical Activity in People with severe Hemophilia
by Federica Valeri, Cristina Dainese, Piera Merli, Mariella Galizia, Samuel Agostino, Nicolas Cunsolo, Carola Sella, Alessandra Valpreda, Mariagiulia Bailon, Marco Miniotti, Annamaria Porreca, Giuseppe Massazza, Benedetto Bruno and Alessandra Borchiellini
J. Clin. Med. 2025, 14(18), 6652; https://doi.org/10.3390/jcm14186652 - 21 Sep 2025
Viewed by 869
Abstract
Background/Objectives: The approach to physical activity in people with hemophilia (PwH) is still conditioned by many difficulties. Thus, a prospective observational pilot study has been carried out aiming to evaluate how an adequate and controlled training program can slow down the onset [...] Read more.
Background/Objectives: The approach to physical activity in people with hemophilia (PwH) is still conditioned by many difficulties. Thus, a prospective observational pilot study has been carried out aiming to evaluate how an adequate and controlled training program can slow down the onset or evolution of arthropathy and improve musculoskeletal health and quality of life. Methods: Performed from April 2022 to April 2023, this study involved nine severe hemophilic A and B patients, aged > 18 years old, on regular prophylaxis with replacement products. Participants, without changing the usual prophylaxis schedule and maintaining a trough level of at least 20% FVIII/FIX before training, were involved in physical activity twice a week. Results: After 12 months, no increase in annual bleeding ratio (ABR) was observed, and baseline joint status (as assessable by HEAD US score, HJHS, and NRS) was maintained. Even if not statistically significant, a trend toward improvement in mean HEAD US score (15.55 vs. 13.11) and HJHS (14.4 vs. 11) from baseline was observed. Some of the physical tests performed showed a significant improvement at 6 months and 12 months from baseline (5 Rep Sit to Stand, Sit and Reach, and 6-minute Walking Test), meaning an improvement in leg strength, dorsal flexibility, and aerobic resistance. Conclusions: This is the first pilot study evaluating at 360 degrees the safety and impact of a controlled physical activity in PwH. No participant experienced bleedings or a worsening in joint status, but they experienced an improvement in articular functionality. Without changing the usual prophylaxis, scheduling training sessions according to individual pharmacokinetics turned out to be a safe and a cost-effective approach. Full article
(This article belongs to the Special Issue Hemophilia: Current Trends and Future Directions)

Review

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11 pages, 303 KB  
Review
Hemophilia’s Overlooked Female Face
by Alkistis Adramerina and Marina Economou
J. Clin. Med. 2026, 15(6), 2155; https://doi.org/10.3390/jcm15062155 - 12 Mar 2026
Viewed by 652
Abstract
Hemophilia is no longer regarded solely as a male disorder; female carriers are increasingly attracting the attention of the scientific community due to the common, albeit overlooked, bleeding tendency associated with their condition. Moreover, women can, in rare cases, experience disease severity comparable [...] Read more.
Hemophilia is no longer regarded solely as a male disorder; female carriers are increasingly attracting the attention of the scientific community due to the common, albeit overlooked, bleeding tendency associated with their condition. Moreover, women can, in rare cases, experience disease severity comparable to that of hemophilic males. The overall bleeding phenotype in females is complicated by gynecological and obstetric bleedings, which do not always correlate directly to their factor levels. As a patient population, they remain significantly underdiagnosed and inadequately treated due to a range of contributing factors. In genetic terms, a carrier exhibits no clinical or laboratory pathology. In that context, the term “hemophilia carrier” has historically led to the presumption of normal hemostasis, thereby impeding the provision of appropriate healthcare services to females in need. Females are not represented in clinical trials and even hemophilia centers lack sufficient experience and appropriate infrastructure to effectively manage and monitor females with hemophilia. Emerging data regarding the needs of this population should be enriched by larger studies, and previously established management practices should be reevaluated, potentially incorporating newer therapeutic options. Full article
(This article belongs to the Special Issue Hemophilia: Current Trends and Future Directions)
17 pages, 825 KB  
Review
Patient-Centred Management of Well-Controlled Haemophilia: Obtaining Opinions and Definitions Through a Delphi Consensus
by Rubén Berrueco, Inmaculada Soto, José María Bastida, José Manuel Calvo Villas, Carmen de Cos, Saturnino Haya, Francisco Sierra García and José Mateo Arranz
J. Clin. Med. 2025, 14(10), 3300; https://doi.org/10.3390/jcm14103300 - 9 May 2025
Cited by 2 | Viewed by 1373
Abstract
Background/Objectives: For people with haemophilia, health-related quality of life mainly depends on the arthropathy caused by repeated joint bleeding. Prophylaxis is the standard of care in patients with severe bleeding phenotypes, but globally, none of the measures used to assess patients’ outcomes [...] Read more.
Background/Objectives: For people with haemophilia, health-related quality of life mainly depends on the arthropathy caused by repeated joint bleeding. Prophylaxis is the standard of care in patients with severe bleeding phenotypes, but globally, none of the measures used to assess patients’ outcomes consider their desires and life expectations. We propose the concept of the “patient-centred management of well-controlled haemophilia” to define individual responses to prophylaxis. The aims of this work are (1) to achieve agreement about the definition of the “patient-centred management of well-controlled haemophilia” by a steering committee of experts, and (2) to share a series of statements that should define the “patient-centred management of well-controlled haemophilia” with other haemophilia clinicians looking for a consensus in this scenario. Methods: An eight-expert group was established to define the concept of the “patient-centred management of well-controlled haemophilia”. Seven major aspects were identified, and a final version of 42 statements was established and distributed to a 75-expert panel for consensus gathering using the Delphi methodology. Results: Forty-eight experts participated in the first round (participation rate: 64%); two sentences from domain 3 were split, leading to a total of 44 statements across the seven domains. Consensus was achieved in 92.85% of cases. Five items and three statements advanced to the second round. Eleven statements were reconsidered in the second round (response rate: 100%). The questionnaire presented high internal consistency. Conclusions: New treatments offer promising solutions for patients, but there is a paucity of models to measure global outcomes. Patient-centred medicine requires multidimensional assessment, and the “patient-centred management of well-controlled haemophilia” concept is intended to enable this. Full article
(This article belongs to the Special Issue Hemophilia: Current Trends and Future Directions)
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