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Haemophilia: Current Treatment and Clinical Outcomes, Challenges and Opportunities: 2nd Edition

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

Deadline for manuscript submissions: closed (20 January 2026) | Viewed by 889

Special Issue Editor


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Guest Editor
Haemophilia Centre, Department of Medicine, University of Padua Medical School, 35128 Padova, Italy
Interests: hemophilia A and B; Von Willebrand disease; rare coagulation disorders; antipholipid antibodies (lupus anticoagulant, anticardiolipin antibodies); deep vein thrombosis and pulmonary embolism; venous thromboembolism; arterial thrombosis
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Special Issue Information

Dear Colleagues,

We invite you to contribute to the Special Issue entitled “Haemophilia: Current Treatment and Clinical Outcomes, Challenges and Opportunities: 2nd Edition”. This is the Special Issue’s second volume; we published nine papers in the first volume. For more details, please visit https://www.mdpi.com/journal/jcm/special_issues/D7TL8NGGX0.

In recent years, several new drug treatments have been developed for treating haemophilia patients. Recombinant clotting factor concentrates FVIII/FIX extended half-life, and new haemostasis agents administered subcutaneously (weekly to monthly) are available. These innovative approaches have the potential to enhance the standard of care by decreasing infusion frequency to increase compliance, promote prophylaxis, offer alternatives to inhibitor patients, and ease the administration route.

Prophylaxis is the gold-standard treatment in haemophilia to prevent bleeding and recurrent haemarthrosis, which can progress to an haemophilic arthropathy, yet numerous issues remain with regard to new drugs. Although EHL products are promising, the optimal strategy for the treatment of bleeds between prophylactic doses and dosing regimens needs to be individualized according to patient pharmacokinetics, accounting for age and physical activity. Emicizumab appears able to improve haemostasis in haemophilia patients, probably including those with inhibitors; however, they cannot currently prevent all bleeding. This context poses the following questions: What is the best treatment for reducing the risk of severe bleeding in newborns, such as intracranial haemorrhage? Could emicizumab and EHL equally protect joints from developing haemophilic arthropathy? What is the best product for active patients? This Special Issue, entitled “Haemophilia: Current Treatment and Clinical Outcomes, Challenges and Opportunities”, will provide an overview of current and developing drugs for haemophilia treatments, providing some answers to the many questions and concerns that exist.

Prof. Dr. Ezio Zanon
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

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Keywords

  • haemophilia A and B
  • FVIII EHL, FIX EHL
  • prophylaxis
  • emicizumab
  • health-related quality of life
  • population pharmacokinetics

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Published Papers (1 paper)

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Research

13 pages, 829 KB  
Article
Long-Term Experience with Acquired Haemophilia A: A 40-Year Single-Centre Study of Clinical Features and Outcome
by Daniele Roselli, Giuseppe Malcangi, Maria Addolorata Bonifacio, Prudenza Ranieri, Renato Marino and Maria Addolorata Mariggiò
J. Clin. Med. 2026, 15(1), 199; https://doi.org/10.3390/jcm15010199 - 26 Dec 2025
Viewed by 505
Abstract
Background: Acquired haemophilia A (AHA) is a rare autoimmune disorder characterized by the development of autoantibodies against Factor VIII activity, leading to a significant reduction in its functionality. Clinically, AHA presents with an unexpected prolongation of activated partial thromboplastin time (aPTT) and spontaneous [...] Read more.
Background: Acquired haemophilia A (AHA) is a rare autoimmune disorder characterized by the development of autoantibodies against Factor VIII activity, leading to a significant reduction in its functionality. Clinically, AHA presents with an unexpected prolongation of activated partial thromboplastin time (aPTT) and spontaneous bleeding episodes in patients without any personal or family history of haemorrhages. Bleeding manifestations can be severe at presentation, making early diagnosis and prompt treatment essential to reduce morbidity and mortality. Methods: We report on a single-centre cohort of 35 patients with AHA (examined from 1984 to 2024), analysing their demographics, underlying conditions, bleeding characteristics, treatment and outcome. Results: The median age of patients at diagnosis was 69 years (ranging from 18 to 92), 15 were males and 20 females. AHA was idiopathic in 37% of cases, severe bleeding was observed in 54% of patients treated with bypassing agents. Recombinant activated Factor VII (rFVIIa) was administered in 79% of cases and activated prothrombin complex concentrate (aPCC) in 10%, with no significant differences in haemostatic response and no thromboembolic complications. Occurrence of major bleeding showed no significant association with sex, age group, underlying condition, baseline Factor VIII activity or inhibitor titre at diagnosis. A total of 69% of patients were treated with corticosteroids alone, and 23% received a combination of corticosteroids and cyclophosphamide. Two patients died, six were lost to follow-up after partial remission, and one relapsed without bleeds after complete remission. Statistical analyses highlighted that the FVIII inhibitor titre > 20 BU was the only significant prognostic factor affecting time to complete remission. Conclusions: These observations emphasize the critical role of clinical suspicion and timely referral to experienced centres with adequate laboratory support for the effective management of AHA. Full article
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