{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T10:26:01Z","timestamp":1781173561345,"version":"3.54.1"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,10,13]],"date-time":"2022-10-13T00:00:00Z","timestamp":1665619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"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"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070125"],"award-info":[{"award-number":["82070125"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Congenital factor VII (FVII) deficiency is a rare bleeding disorder characterised by a wide molecular and clinical heterogeneity. We investigated the clinical phenotype of 193 patients and <jats:italic>F7<\/jats:italic> genotype of 55\/193 patients with FVII deficiency throughout China and showed their current status of management. The most frequent bleeding symptoms were epistaxis (44.6%), cutaneous (38.9%), oral cavity (40.4%) bleeding and menorrhagia (44.3% of females of reproductive age). Fatal central nervous system bleeding and disabling joint bleeding occurred in three patients each. The majority of patients (89.6%) had FVII activity (FVII:C) \u226410% and the proportion of symptomatic patients in this group (79.8%) was significantly higher than that in the groups with FVII:C &gt;10%\u201325% (41.7%) and &gt;25%\u201350% (37.5%) (\u03c7<jats:sup>2<\/jats:sup> = 13.641, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.001). Major bleeds occurred only in patients with FVII:C \u226410%. In total 55 patients underwent genotype analysis: most variants were missense (62.5%) and most patients had homozygous\/compound heterozygous (85.4%) variants. Prothrombin complex concentrates (72.4%) were the most frequently used on\u2010demand replacement therapy. Prophylaxis before delivery decreased the risk of postpartum bleeding in women (\u03c7<jats:sup>2<\/jats:sup> = 69.243, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.000). Our study provides useful information on the phenotype, genotype and current status of FVII\u2010deficiency patients management and may promote further exploration and care of this population in the future.<\/jats:p>","DOI":"10.1111\/bjh.18514","type":"journal-article","created":{"date-parts":[[2022,10,14]],"date-time":"2022-10-14T05:29:45Z","timestamp":1665725385000},"page":"344-352","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Factor <scp>VII<\/scp> deficiency in China: Phenotype, genotype and current status of management"],"prefix":"10.1111","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4243-3360","authenticated-orcid":false,"given":"Cuiyun","family":"Qu","sequence":"first","affiliation":[{"name":"State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin Key Laboratory of Gene Therapy for Blood Diseases CAMS Key Laboratory of Gene Therapy for Blood Diseases  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4713-2441","authenticated-orcid":false,"given":"Wei","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin Key Laboratory of Gene Therapy for Blood Diseases CAMS Key Laboratory of Gene Therapy for Blood Diseases  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin Key Laboratory of Gene Therapy for Blood Diseases CAMS Key Laboratory of Gene Therapy for Blood Diseases  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin Key Laboratory of Gene Therapy for Blood Diseases CAMS Key Laboratory of Gene Therapy for Blood Diseases  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin Key Laboratory of Gene Therapy for Blood Diseases CAMS Key Laboratory of Gene Therapy for Blood Diseases  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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, Institute of Hematology and Blood 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