Hemophilia: The Paradigm Shift and the Unresolved Challenges

A special issue of Hematology Reports (ISSN 2038-8330).

Deadline for manuscript submissions: 30 September 2026 | Viewed by 575

Special Issue Editor


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Guest Editor
1. Department of Physiotherapy, University of Valencia, Valencia, Spain
2. Haemostasis and Thrombosis Unit, University and Polytechnic Hospital La Fe, Valencia, Spain
Interests: rehabilitation and physiotherapy in hemophilia; hemophilic arthropathy; clinical and imaging-based assessment; prevention and treatment
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Special Issue Information

Dear Colleagues,

Over the past decade, hemophilia care has experienced an unprecedented paradigm shift, driven by the advancement of extended half-life concentrates, bispecific antibodies, and, more recently, gene therapy. These advances have transformed the natural history of the disease, improving life expectancy and quality of life for patients with access to treatment. However, this therapeutic revolution coexists with persistent musculoskeletal complications, chronic pain, and significant disparities in global access to care. As people with hemophilia live to an older age, age-related comorbidities are emerging as new clinical challenges. Additionally, female carriers often experience bleeding symptoms and psychological distress associated with genetic transmission. Physiotherapy, rehabilitation, and musculoskeletal ultrasound remain essential components of multidisciplinary care.

This Special Issue invites readers to explore the challenges and opportunities of comprehensive care in hemophilia, under the clinical leadership of hematology, and to study aspects such as musculoskeletal complications, diagnostic tools, quality-of-life assessment, and new models of multidisciplinary care.

We aim to encourage reflection on how to consolidate this new therapeutic paradigm without losing sight of the problems that remain unresolved. Improvements in hemophilia care should not focus solely on innovation and access to emerging therapies but also on providing equitable care that includes physical rehabilitation, psychosocial support, and sustained collaboration among specialists and patient associations worldwide.

Dr. Felipe Querol
Guest Editor

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Keywords

  • hemophilia care
  • therapeutic advancements
  • gene therapy
  • musculoskeletal complications
  • quality of life
  • multidisciplinary care
  • global access to treatment
  • psychosocial support

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Published Papers (1 paper)

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11 pages, 1470 KB  
Case Report
Clinical Experience with Emicizumab and Rituximab as First-Line Treatment in a Case Series of Acquired Hemophilia A
by Hikari Ota, Kyohei Yasuda, Namie Toyota and Kazuhiro Masuoka
Hematol. Rep. 2026, 18(2), 19; https://doi.org/10.3390/hematolrep18020019 - 5 Mar 2026
Viewed by 365
Abstract
Background: Acquired hemophilia A (AHA) is a bleeding disorder caused by autoantibodies against coagulation factor VIII. Treatment includes controlling bleeding and eliminating the inhibitor. Emicizumab has been increasingly used to prevent bleeding in patients with AHA. Rituximab is used as a first-line immunosuppressive [...] Read more.
Background: Acquired hemophilia A (AHA) is a bleeding disorder caused by autoantibodies against coagulation factor VIII. Treatment includes controlling bleeding and eliminating the inhibitor. Emicizumab has been increasingly used to prevent bleeding in patients with AHA. Rituximab is used as a first-line immunosuppressive therapy (IST) for AHA, either in combination with corticosteroids in high-risk patients or as monotherapy in low-risk patients who cannot tolerate corticosteroids. However, evidence regarding concomitant emicizumab and rituximab as first-line treatment for AHA is limited. Case presentations: We present five cases of AHA diagnosed at a single institution. The first three high-risk AHA cases in the era before emicizumab resulted in poor outcomes due to bleeding (Cases 1 and 3) or infection (Case 2). The recent cases (Cases 4 and 5) were successfully treated with emicizumab and rituximab-containing IST without severe bleeding and infections. Since emicizumab effectively relieved pain in these patients, rehabilitation could be initiated promptly, resulting in earlier hospital discharge. Complete remission was achieved on Day 42 in Case 4 and on Day 22 in Case 5, respectively, and emicizumab was subsequently discontinued in both cases. Conclusions: Our case series suggests that early initiation of emicizumab for patients with AHA is effective in preventing severe bleeding and subsequent immobility, and it can be combined with rituximab-containing IST to achieve remission, potentially with fewer adverse effects than standard IST. Further studies are warranted to establish the optimal treatment protocol involving emicizumab and IST for AHA. Full article
(This article belongs to the Special Issue Hemophilia: The Paradigm Shift and the Unresolved Challenges)
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