{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T10:45:39Z","timestamp":1773053139845,"version":"3.50.1"},"reference-count":42,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:00:00Z","timestamp":1748304000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:00:00Z","timestamp":1748304000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82170127"],"award-info":[{"award-number":["82170127"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Congenital factor V (FV) deficiency is a rare bleeding disorder caused by recessive variants in the\n                      <jats:italic>F5<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To investigate the phenotype and genotype of patients with congenital FV deficiency throughout China.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Based on data from the Chinese National Haemophilia Registry, we analysed the clinical and genetic characteristics of 45 congenital FV deficiency patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The study cohort comprised 45 patients with confirmed FV:C reductions (undetectable to 48%), including six mild (FV:C &gt;10%), 31 moderate (FV:C 1%\u201310%), and eight severe (FV:C &lt;1%) patients. Of 39 patients with medical history, nine were asymptomatic. Major bleeding (Grade III) occurred in six patients with FV:C &lt;10%. The most common symptoms included gingival (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a015, 38.5%) and cutaneous bleeding (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a013, 33.3%) in 39 patients. Menorrhagia (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a07) was observed in 38.9% of 18 female patients of reproductive age. Gene sequencing identified 33 distinct variants in 20 patients, including 12 novel pathogenic\/likely pathogenic variants and one novel variant of uncertain significance. Variants affecting the light chain (vs. heavy chain) were associated with lower FV:C (\n                      <jats:italic>p\u00a0<\/jats:italic>\n                      =\u00a00.002). Fresh frozen plasma served as the primary on\u2010demand therapy, administered to 19 patients for active bleeding management and to two asymptomatic patients as preoperative prophylaxis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study characterizes China's largest FV\u2010deficient cohort, identifying 13 novel\n                      <jats:italic>F5<\/jats:italic>\n                      variants. Light chain variants predicted severe coagulation disorder, while on\u2010demand FFP achieved effective haemostasis. High prevalences of menorrhagia (38.9%) and ovarian cysts (22.2%) in reproductive\u2010age females highlight urgent needs for gender\u2010specific interventions and management of this rare disorder.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/hae.70066","type":"journal-article","created":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T09:00:36Z","timestamp":1748336436000},"page":"761-770","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Nationwide Study on Factor V Deficiency in China: Clinical Characteristics, Genotype, and Treatment Approaches"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0252-293X","authenticated-orcid":false,"given":"Yu","family":"Yang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases Institute of Hematology &amp; Blood Diseases Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Tianjin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingling","family":"Chen","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases Institute of Hematology &amp; Blood Diseases Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Tianjin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases Institute of Hematology &amp; Blood Diseases Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Tianjin China"},{"name":"Tianjin Institutes of Health Science  Tianjin China"},{"name":"School of Population Medicine and Public Health Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5947-3924","authenticated-orcid":false,"given":"Feng","family":"Xue","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases Institute of Hematology &amp; Blood Diseases Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Tianjin China"},{"name":"Tianjin Institutes of Health Science  Tianjin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3741-8518","authenticated-orcid":false,"given":"Renchi","family":"Yang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases Institute of Hematology &amp; Blood Diseases Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Tianjin China"},{"name":"Tianjin Institutes of Health Science  Tianjin China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,27]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2005.01590.x"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-01-0290"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1538-7836.2003.00043.x"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-02-0595"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/MBC.0b013e3283424883"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2012.04653.x"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1586\/17474086.2015.1039978"},{"issue":"2","key":"e_1_2_11_9_1","first-page":"89","article-title":"Consensus of Chinese Expert on the Diagnosis and Treatment of Rare Bleeding Disorders (version 2021)]","volume":"42","year":"2021","journal-title":"Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi"},{"issue":"11","key":"e_1_2_11_10_1","first-page":"881","article-title":"Chinese Guidelines on the Diagnosis and Management of Hemophilia With Inhibitors (2023)]","volume":"44","year":"2023","journal-title":"Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_13_1","article-title":"National Center for Biotechnology Information","author":"Illumina Laboratory Services, Illumina","journal-title":"ClinVar; 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