{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T05:54:23Z","timestamp":1778910863833,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,9,2]],"date-time":"2015-09-02T00:00:00Z","timestamp":1441152000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004191","name":"Novo Nordisk","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004191","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Clin Investigation"],"published-print":{"date-parts":[[2015,10]]},"abstract":"Abstract<\/jats:title>Introduction<\/jats:title>Congenital factor X (FX<\/jats:styled-content>) deficiency is a rare bleeding disorder inherited as an autosomal recessive trait with an incidence of 1\u00a0:\u00a0500\u00a0000\u20131\u00a0000\u00a0000. A total or partial deficiency of FX<\/jats:styled-content> causes an impairment of clot formation, leading to a haemorrhagic disease, which manifests with bleeding symptoms of different severity, also unprovoked.<\/jats:p><\/jats:sec>Aim<\/jats:title>We analysed the clinical manifestations, laboratory phenotype and genotype in 12 patients from T<\/jats:styled-content>urkey affected with severe FX<\/jats:styled-content> deficiency.<\/jats:p><\/jats:sec>Methods<\/jats:title>Prothrombin time (PT<\/jats:styled-content>), activated partial thromboplastin time (APTT<\/jats:styled-content>), FX<\/jats:styled-content> activity (FX<\/jats:styled-content>:C) and FX<\/jats:styled-content> antigen level (FX<\/jats:styled-content>:Ag) were measured, and mutation analysis was performed for all patients.<\/jats:p><\/jats:sec>Results<\/jats:title>The most frequent bleeding episodes in patients were epistaxis and easy bruising (11\/12, 91%), followed by haemarthroses (10\/12, 83%). FX<\/jats:styled-content>:C was <1% in 11 patients, and 4% in one. FX<\/jats:styled-content>:Ag was reduced in all patients, consistent with type II<\/jats:styled-content> deficiency. Direct sequencing of the factor X gene (F10<\/jats:italic>) identified two different mutations: the novel 33\u00a0bp in\u2010frame deletion p.Thr176_Gln186, c.526_558del, which seems to be associated with milder bleeding symptoms and the c.785G>A, p.Gly262Asp missense mutation (previously reported as Gly222Asp), which is associated with severe bleeding symptoms.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>The p.Gly262Asp missense mutation was identified in 11 of the 12 patients in this study. Previously published cases on the same p.Gly262Asp mutation were I<\/jats:styled-content>ranian patients originating from the border between T<\/jats:styled-content>urkey and I<\/jats:styled-content>ran suggesting that this mutation may be candidate as a good tool for mutational screening analysis in this area.<\/jats:p><\/jats:sec>","DOI":"10.1111\/eci.12511","type":"journal-article","created":{"date-parts":[[2015,7,29]],"date-time":"2015-07-29T12:14:52Z","timestamp":1438172092000},"page":"1087-1091","source":"Crossref","is-referenced-by-count":7,"title":["Frequency of the p.G<\/scp>ly262A<\/scp>sp mutation in congenital F<\/scp>actor X<\/scp> deficiency"],"prefix":"10.1111","volume":"45","author":[{"given":"Serdar","family":"Epcacan","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Pediatric Cardiology Ipekyolu Women's and Children's Hospital Van Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marzia","family":"Menegatti","sequence":"additional","affiliation":[{"name":"Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano, and Fondazione Luigi Villa Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sinan","family":"Akbayram","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology Faculty of Medicine Yuzuncu Yil University Van Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Cairo","sequence":"additional","affiliation":[{"name":"Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano, and Fondazione Luigi Villa Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flora","family":"Peyvandi","sequence":"additional","affiliation":[{"name":"Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano, and Fondazione Luigi Villa Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet F.","family":"Oner","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology Faculty of Medicine Yuzuncu Yil University Van Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,9,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"crossref","first-page":"7729","DOI":"10.1016\/S0021-9258(19)43250-X","article-title":"Simultaneous purification of bovine prothrombin and factor X. 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