{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:19:25Z","timestamp":1790680765951,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,9,20]],"date-time":"2022-09-20T00:00:00Z","timestamp":1663632000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital coagulation factor V (FV) deficiency is a very rare hemorrhagic disease with an incidence of approximately one in a million. The common clinical manifestations of FV deficiency include ecchymosis and mucosal bleeding. Life\u2010threatening intracranial bleeding is rare. It has been reported in several cases. However, the molecular basis has been established in only a few cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We reported a 2\u2010month\u2010old girl with congenital FV deficiency and intracranial hemorrhage. Coagulation screening combined with clinical manifestations was performed to diagnose congenital FV deficiency. Genetic testing was performed to identify the pathogenic genes. A literature review was included to emphasize the clinical manifestation, diagnosis, and treatment for congenital FV deficiency with intracranial bleeding.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The coagulation tests revealed a significantly prolonged prothrombin time (PT) of 51\u2009s and an activated partial thromboplastin time (APTT) of 73.7\u00a0s. The patient had a plasma FV activity of 0.9%. Genetic testing showed compound heterozygous mutations of the patient's FV gene. A literature review showed that patients with homozygous or compound heterozygous variants of the FV gene were often associated with a severe bleeding phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study provides a direction for the rapid and accurate diagnosis and treatment for FV deficiency to avoid life\u2010threatening bleeding. Infants with spontaneous cranial hematoma and intracranial hemorrhage should be investigated for underlying hemostatic defects. Congenital coagulation factor deficiency should be considered. Once congenital FV deficiency is diagnosed, fresh frozen plasma (FFP) should be given on a regular basis. Liver transplantation may be performed in severe cases.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.24705","type":"journal-article","created":{"date-parts":[[2022,9,20]],"date-time":"2022-09-20T15:59:57Z","timestamp":1663689597000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Congenital coagulation factor V deficiency with intracranial hemorrhage"],"prefix":"10.1002","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0115-6168","authenticated-orcid":false,"given":"Jingjing","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongli","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,20]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000018947"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22189705"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1687906"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1225760"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.wneu.2019.04.080"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12288-012-0149-8"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s007010050359"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14195"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.59.10.997"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007890-201007272-01584"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/petr.13102"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.3904\/kjim.1997.12.1.80"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050993"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1999.tb01109.x"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2516.2000.00362.x"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200105000-00013"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1613106"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2004.00896.x"},{"issue":"2","key":"e_1_2_5_20_1","first-page":"93","article-title":"Laboratory diagnosis of a pedigree with congenital coagulation factor V deficiency","volume":"27","author":"Liu LG","year":"2004","journal-title":"Chin J Lab Med"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2431-7-8"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2007.01469.x"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.11952"},{"issue":"2","key":"e_1_2_5_24_1","first-page":"153","article-title":"A case of neonatal coagulation factor V deficiency","volume":"48","author":"Wang Q","year":"2010","journal-title":"Chin J Pediatr"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2011.04237.x"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2012.02902.x"},{"issue":"4","key":"e_1_2_5_27_1","first-page":"507","article-title":"Hereditary factor V deficiency: a case report","volume":"30","author":"Wang DM","year":"2014","journal-title":"J Pract Med"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2010.10.010"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.24705","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.24705","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.24705","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T07:01:26Z","timestamp":1692601286000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.24705"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,20]]},"references-count":27,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1002\/jcla.24705"],"URL":"https:\/\/doi.org\/10.1002\/jcla.24705","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,20]]},"assertion":[{"value":"2022-07-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e24705"}}