{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T03:03:00Z","timestamp":1793156580140,"version":"4.5.0"},"reference-count":43,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T00:00:00Z","timestamp":1707091200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>The disease burden and bleeding risk of patients with mild hemophilia may be underestimated. Their health-related quality of life (QoL) may be negatively impacted by insufficient treatment and bleed-related joint damage connected to a potentially delayed diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>This study aims to gain information on the care reality and QoL of patients aged \u226512\u2009years with mild hemophilia in Germany.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>An anonymous cross-sectional patient survey using standardized questionnaires was conducted in a validated electronic patient-reported outcome system. Medical specialists, hemophilia centers, patient organizations, and support groups across Germany invited the patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 43 patients (35 patients with hemophilia A, 5 patients with hemophilia B, and 3 patients for whom the information was missing) with a median age of 33\u2009years were analyzed. The median age at diagnosis was 6.0\u2009years (interquartile range [IQR] 2.0\u201315.0), and the median factor activity was 14.0% (IQR 12.0\u201325.0). Nearly 85% of the patients received factor concentrates in the past, and the most common reasons for the treatment were surgery or joint bleeding (each 65.6%). Half of the patients who provided feedback experienced complications during bleeding episodes. Prophylactic treatment with factor concentrates was rare (10.3%). The patients had minor problems regarding their health status.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Bleeding complications and joint bleeding, in particular, may be highly underestimated in patients with mild hemophilia, highlighting a medical need in this population. Patients with a potential benefit from prophylaxis need to be identified. Mild hemophilia has a negative impact on patients\u2019 QoL. Hemophilia centers satisfied the patients\u2019 needs. Further research is needed to address the current lack of awareness and improve adequate treatment in the future.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2024.1347024","type":"journal-article","created":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T00:03:21Z","timestamp":1707091401000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Patient perspective on living with mild hemophilia in Germany: results from a nationwide survey"],"prefix":"10.3389","volume":"11","author":[{"given":"Rosa Sonja","family":"Alesci","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Goldmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Halimeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Holstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"K\u00f6nigs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Miesbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Pfrepper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Olivieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,2,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/hae.14046","article-title":"The WFH guidelines for the Management of Hemophilia panelists and co-authors WFH guidelines for the management of hemophilia, 3rd edition","volume":"26","author":"Srivastava","year":"2020","journal-title":"Haemophilia"},{"key":"ref2","volume-title":"Report on the annual global survey","year":"2021"},{"key":"ref3","doi-asserted-by":"crossref","DOI":"10.1055\/b-002-13417","volume-title":"Das Gerinnungskompendium","author":"Barthels","year":"2012"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"1935","DOI":"10.1111\/jth.12672","article-title":"Definitions in hemophilia: communication from the SSC of the ISTH","volume":"12","author":"Blanchette","year":"2014","journal-title":"J Thromb Haemost"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"1368","DOI":"10.3390\/jcm12041368","article-title":"Mild and moderate hemophilia a: neglected conditions, still with unmet needs","volume":"12","author":"Castaman","year":"2023","journal-title":"J Clin Med"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1177\/2040620718784834","article-title":"Recent advances in musculoskeletal physiotherapy for haemophilia","volume":"9","author":"Stephensen","year":"2018","journal-title":"Ther Adv Hematol."},{"key":"ref7","doi-asserted-by":"publisher","first-page":"535","DOI":"10.2450\/2017.0150-17","article-title":"Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management","volume":"16","author":"Benson","year":"2018","journal-title":"Blood Transfus"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"1954","DOI":"10.1182\/blood-2013-02-483263","article-title":"Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia a","volume":"122","author":"Eckhardt","year":"2013","journal-title":"Blood"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"3322","DOI":"10.3390\/jcm11123322","article-title":"Challenges in the diagnosis and management of non-severe hemophilia","volume":"11","author":"Boeriu","year":"2022","journal-title":"J Clin Med"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1111\/j.1538-7836.2009.03717.x","article-title":"Mild hemophilia a","volume":"8","author":"Franchini","year":"2010","journal-title":"J Thromb Haemost"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1055\/s-0038-1660817","article-title":"Inhibitors in hemophilia B","volume":"44","author":"Santoro","year":"2018","journal-title":"Semin Thromb Hemost"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"10852","DOI":"10.1177\/20406207221085202","article-title":"International consensus recommendations on the management of people with haemophilia B","volume":"13","author":"Hart","year":"2022","journal-title":"Ther Adv Hematol"},{"key":"ref13","first-page":"14","year":"2020"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1016\/S0140-6736(77)91197-7","article-title":"1-Deamino-8-d-arginine vasopressin: a new pharmacological approach to the management of haemophilia and von Willebrands\u2019 diseases","volume":"1","author":"Mannucci","year":"1977","journal-title":"Lancet"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"682","DOI":"10.1046\/j.1538-7836.2003.00190.x","article-title":"Cellular mechanisms of the hemostatic effects of desmopressin (DDAVP)","volume":"1","author":"Kaufmann","year":"2003","journal-title":"J Thromb Haemost"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"e12777","DOI":"10.1002\/rth2.12777","article-title":"Desmopressin for bleeding in non-severe hemophilia a: suboptimal use in a real-world setting","volume":"6","author":"Zwagemaker","year":"2022","journal-title":"Res Pract Thromb Haemost."},{"key":"ref17","doi-asserted-by":"publisher","first-page":"2638","DOI":"10.1111\/jth.15475","article-title":"The factor VIII treatment history of non-severe hemophilia a: COMMENT. Joint damage in adult patients with mild or moderate hemophilia a evaluated with the HEAD-US system","volume":"19","author":"\u00c1lvarez Rom\u00e1n","year":"2021","journal-title":"J Thromb Haemost"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1111\/hae.14193","article-title":"Current challenges for men and women with mild-to-moderate haemophilia","volume":"27","author":"Rajpurkar","year":"2021","journal-title":"Haemophilia"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1111\/hae.14251","article-title":"Impact of haemophilia on patients with mild-to-moderate disease: results from the P-FiQ and B-HERO-S studies","volume":"27","author":"Witkop","year":"2021","journal-title":"Haemophilia"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1016\/0168-8510(90)90421-9","article-title":"EuroQol--a new facility for the measurement of health-related quality of life","volume":"16","year":"1990","journal-title":"Health Policy"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"4256","DOI":"10.1182\/bloodadvances.2022007620","article-title":"The bleeding phenotype in people with nonsevere hemophilia","volume":"6","author":"Kloosterman","year":"2022","journal-title":"Blood Adv"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1067\/mpd.2002.128115","article-title":"What factors influence the age at diagnosis of hemophilia? Results of the French hemophilia cohort","volume":"141","author":"Chambost","year":"2002","journal-title":"J Pediatr"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1111\/j.1365-2516.2010.02306.x","article-title":"Mild haemophilia: a disease with many faces and many unexpected pitfalls","volume":"16","author":"Peerlinck","year":"2010","journal-title":"Haemophilia"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"3203","DOI":"10.1111\/jth.15076","article-title":"The factor VIII treatment history of non-severe hemophilia a","volume":"18","author":"Abdi","year":"2020","journal-title":"J Thromb Haemost"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1111\/hae.14105","article-title":"Non-severe haemophilia: is it benign? - insights from the PROBE study","volume":"27","author":"Chai-Adisaksopha","year":"2021","journal-title":"Haemophilia"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1111\/hae.13777","article-title":"Burden of mild haemophilia a: systematic literature review","volume":"25","author":"Peyvandi","year":"2019","journal-title":"Haemophilia"},{"key":"ref27","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1055\/a-1957-4477","volume":"43","author":"Miesbach","year":"2023","journal-title":"Gentherapie der H\u00e4mophilie: Empfehlung der Gesellschaft f\u00fcr Thrombose- und H\u00e4mostaseforschung (GTH)"},{"key":"ref28","first-page":"1","volume-title":"Querschnitts-Leitlinien zur Therapie mit Blutkomponenten und Plasmaderivaten","year":"2020"},{"key":"ref29","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1055\/s-0036-1571309","article-title":"Emerging issues in diagnosis, biology, and inhibitor risk in mild hemophilia a","volume":"42","author":"Castaman","year":"2016","journal-title":"Semin Thromb Hemost"},{"key":"ref30","doi-asserted-by":"publisher","first-page":"14","DOI":"10.17225\/jhp00063","article-title":"Living with mild haemophilia and care after a bleed \u2013 a qualitative study","volume":"3","author":"Othman","year":"2016","journal-title":"J Haemophilia Pract"},{"key":"ref31","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1111\/hae.14525","article-title":"Quality of life in a large multinational haemophilia B cohort (the B-natural study) - unmet needs remain","volume":"28","author":"Berntorp","year":"2022","journal-title":"Haemophilia"},{"key":"ref32","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1111\/hae.14168","article-title":"Identified unmet needs and proposed solutions in mild-to-moderate haemophilia: a summary of opinions from a roundtable of haemophilia experts","volume":"27","author":"Walsh","year":"2021","journal-title":"Haemophilia"},{"key":"ref33","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1111\/j.1365-2516.2010.02383.x","article-title":"Analysis of low frequency bleeding data: the association of joint bleeds according to baseline FVIII activity levels","volume":"17","author":"Den Uul","year":"2011","journal-title":"Haemophilia"},{"key":"ref34","doi-asserted-by":"publisher","first-page":"2136","DOI":"10.1182\/bloodadvances.2018020552","article-title":"The frequency of joint hemorrhages and procedures in nonsevere hemophilia a vs B","volume":"2","author":"Soucie","year":"2018","journal-title":"Blood Adv"},{"key":"ref35","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1002\/rth2.12347","article-title":"Hemophilia without prophylaxis: assessment of joint range of motion and factor activity","volume":"4","author":"Wang","year":"2020","journal-title":"Res Pract Thromb Haemost"},{"key":"ref36","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1111\/hae.14750","article-title":"How mild is mild haemophilia?","volume":"29","author":"Daffunchio","year":"2023","journal-title":"Haemophilia"},{"key":"ref37","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1055\/s-0039-1688450","article-title":"Leitlinie der Gesellschaft f\u00fcr Thrombose- und H\u00e4mostaseforschung (GTH) zur Struktur- und Prozessqualit\u00e4t von H\u00e4mophilie-Zentren","volume":"39","author":"Eichler","year":"2019","journal-title":"Hamostaseologie"},{"key":"ref38","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1111\/hae.14176","article-title":"Patient satisfaction with US hemophilia treatment center care, teams and services: the first National Survey","volume":"26","author":"Riske","year":"2020","journal-title":"Haemophilia"},{"key":"ref39","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1111\/ejh.12851","article-title":"Impact of mild to severe hemophilia on education and work by US men, women, and caregivers of children with hemophilia B: the bridging hemophilia B experiences, results and opportunities into solutions (B-HERO-S) study","volume":"98","author":"Cutter","year":"2017","journal-title":"Eur J Haematol"},{"key":"ref40","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1111\/j.1365-2516.2008.01837.x","article-title":"Clinical outcome of moderate haemophilia compared with severe and mild haemophilia","volume":"15","author":"den uijl","year":"2009","journal-title":"Haemophilia"},{"key":"ref41","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1111\/ejh.13055","article-title":"Impact of hemophilia B on quality of life in affected men, women, and caregivers-assessment of patient-reported outcomes in the B-HERO-S study","volume":"100","author":"Buckner","year":"2018","journal-title":"Eur J Haematol"},{"key":"ref42","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1177\/0894439314563916","article-title":"Improving survey response rates in online panels:effects of low-cost incentives and cost-free text appeal interventions","volume":"34","author":"Pedersen","year":"2016","journal-title":"Soc Sci Comput Rev"},{"key":"ref43","doi-asserted-by":"publisher","first-page":"e036533","DOI":"10.1136\/bmjopen-2019-036533","article-title":"Patient-reported experiences with general practitioners: a randomised study of mail and web-based approaches following a national survey","volume":"10","author":"Iversen","year":"2020","journal-title":"BMJ Open"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2024.1347024\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T00:03:26Z","timestamp":1707091406000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2024.1347024\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,5]]},"references-count":43,"alternative-id":["10.3389\/fmed.2024.1347024"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2024.1347024","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,5]]},"article-number":"1347024"}}