{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T12:21:47Z","timestamp":1777033307341,"version":"3.51.4"},"reference-count":39,"publisher":"Georg Thieme Verlag KG","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Semin Thromb Hemost"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hemophilia is a rare X-linked congenital bleeding disorder due to a deficiency of factor VIII (hemophilia A [HA]) or factor IX (hemophilia B [HB]). Replacement and nonreplacement treatments are available but have limitations. Gene therapy (GT) provides an effective, long-term, single-dose treatment option, now approaching clinical practice. This study aimed to understand patient perspectives on GT for HA and HB in Italy using a qualitative questionnaire distributed through Italian patient associations, addressing patient views on daily life, treatments, unmet needs, quality of life (QoL), and GT for hemophilia. In total, 141 participants had HA, and 14 had HB (severe 78.6%). Daily life was most affected by pain and\/or joint function limitations (57.5% of participants), high infusion frequency (42.5%), management of breakthrough bleeding episodes (40.3%), and anxiety\/fear of severe or sudden bleeding (38.8%). Despite current treatments, about half of the participants experienced three or more annual bleeding episodes. Most participants knew of GT (87.2%) and expected improvements in QoL (60.5%), reduced frequency of current treatments (53.5%), and a permanent cure (49.1%); 46.4% were unaware of its once-off dosage and 46.4% were not concerned about the costs they anticipated to be associated with GT. Although several fears were reported, 25.0% of participants were willing to undergo GT with the support of a multidisciplinary team. This survey provided valuable insight into patient perspectives on hemophilia and GT in Italy. Overall, relevant proportions of patients still experience limitations affecting their daily life. Most were positive about GT and anticipated improvements in their clinical outcomes and QoL.<\/jats:p>","DOI":"10.1055\/s-0044-1787664","type":"journal-article","created":{"date-parts":[[2024,6,18]],"date-time":"2024-06-18T23:04:37Z","timestamp":1718751877000},"page":"049-057","source":"Crossref","is-referenced-by-count":3,"title":["Patient Perspective on Disease Burden and Gene Therapy for Hemophilia A and B: The \u201cHaemvolution for Patients\u201d Italian Survey"],"prefix":"10.1055","volume":"51","author":[{"given":"Maria Francesca","family":"Mansueto","sequence":"additional","affiliation":[{"name":"Centro Emofila e Divisione di Ematologia, Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone, Palermo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Bigi","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Linguistiche e Letterature Straniere, Universit\u00e0 Cattolica del Sacro Cuore, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Follino","sequence":"additional","affiliation":[{"name":"Fondazione Paracelso Onlus, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Lupi","sequence":"additional","affiliation":[{"name":"Federation of Haemophilia Associations (FedEmo), Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Coppola","sequence":"additional","affiliation":[{"name":"Regional Reference Centre for Inherited Bleeding Disorders, Department of General and Specialist Medicine, University Hospital of Parma, Parma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,6,18]]},"reference":[{"issue":"S 06","key":"ref1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/hae.14046","article-title":"WFH Guidelines for the management of hemophilia, 3rd edition","volume":"26","author":"A Srivastava","year":"2020","journal-title":"Haemophilia"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/S0140-6736(15)01123-X","article-title":"The past and future of haemophilia: diagnosis, treatments, and its complications","volume":"388","author":"F Peyvandi","year":"2016","journal-title":"Lancet"},{"issue":"14","key":"ref3","doi-asserted-by":"crossref","first-page":"7647","DOI":"10.3390\/ijms22147647","article-title":"Gene therapy in hemophilia: recent advances","volume":"22","author":"E C Rodr\u00edguez-Merch\u00e1n","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"01","key":"ref4","first-page":"58","article-title":"New data from the Italian National Register of Congenital Coagulopathies, 2016 Annual Survey","volume":"18","author":"F Abbonizio","year":"2020","journal-title":"Blood Transfus"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"21","DOI":"10.2174\/1871529X16666160613114506","article-title":"Articular bleeding in hemophilia","volume":"16","author":"E C Rodriguez-Merchan","year":"2016","journal-title":"Cardiovasc Hematol Disord Drug Targets"},{"issue":"02","key":"ref6","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1111\/hae.13377","article-title":"Impact of pain and functional impairment in US adults with haemophilia: Patient-reported outcomes and musculoskeletal evaluation in the pain, functional impairment and quality of life (P-FiQ) study","volume":"24","author":"C L Kempton","year":"2018","journal-title":"Haemophilia"},{"issue":"05","key":"ref7","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1111\/j.1365-2516.2012.02808.x","article-title":"Pain management in patients with haemophilia: a European survey","volume":"18","author":"K Holstein","year":"2012","journal-title":"Haemophilia"},{"issue":"05","key":"ref8","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1111\/hae.13600","article-title":"Pain assessment and management in haemophilia: A survey among Italian patients and specialist physicians","volume":"24","author":"A Tagliaferri","year":"2018","journal-title":"Haemophilia"},{"issue":"01","key":"ref9","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/s41572-021-00278-x","article-title":"Haemophilia","volume":"7","author":"E Berntorp","year":"2021","journal-title":"Nat Rev Dis Primers"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"101011","DOI":"10.1016\/j.blre.2022.101011","article-title":"Progress, and prospects in the therapeutic armamentarium of persons with congenital hemophilia. 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