{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T15:06:47Z","timestamp":1784300807984,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T00:00:00Z","timestamp":1775952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T00:00:00Z","timestamp":1775952000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Factor V(FV) is a critical cofactor in the coagulation cascade. The diagnosis and investigation of novel variant contribute to improving the clinical treatment and management of patient with Factor V deficiency.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Coagulation screening, FV activity, FV antigen levels and thrombin generation assay (TGA) were performed on plateletpoor plasma samples collected from eleven family members. All exons and flanks of\n                      <jats:italic>F5<\/jats:italic>\n                      gene were analysed by Sanger sequencing and novel variant were confirmed by reverse sequencing. Online bioinformatics tools were used to investigate possible adverse and effects on splicing of proband's\n                      <jats:italic>F5<\/jats:italic>\n                      gene novel variant. Thromboelastography (TEG) and TGA were utilized to detect and evaluate the coagulation function of proband and heterozygous carrier family members.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The proband was a middle\u2010aged Chinese woman with menorrhagia, presenting as an FV deficiency patient with FV activity and antigen levels of 7% (reference: 86%\u2013114%) and 6% (reference: 70%\u2013140%), respectively. Genetic testing revealed that proband carried compound heterozygous variants in\n                      <jats:italic>F5<\/jats:italic>\n                      gene: c.6528+3A&gt;T(IVS24+3A&gt;T) and c.6665A&gt;G(p.Asp2222Gly). Multiple online tools indicate that the novel variant represents a genuine splice\u2010site, leading to the deletion of a fragment and triggering exon skipping. The TGA results indicate decreased thrombin generation capacity in the proband, while TEG showed prolonged clotting initiation time.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The proband with hereditary factor V deficiency carries compound heterozygous variants, IVS24+3A&gt;T and p.Asp2222Gly, which have led to alterations in clinical phenotype, genotype, and function. The IVS24+3A&gt;T variant in the\n                      <jats:italic>F5<\/jats:italic>\n                      gene is a novel splice\u2010site variant reported here for the first time.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/hae.70281","type":"journal-article","created":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T04:22:38Z","timestamp":1776054158000},"page":"1077-1084","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Analysis of a Family With Hereditary Factor V Deficiency Induced by Compound Heterozygous Variants (IVS24+3A&gt;T and p.Asp2222Gly)"],"prefix":"10.1111","volume":"32","author":[{"given":"Ben","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine The First Affiliated Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine The First Affiliated Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Litao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine The First Affiliated Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine The First Affiliated Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kankan","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine The First Affiliated Hospital of Nanjing Medical University  Nanjing 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