{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T22:24:05Z","timestamp":1787869445441,"version":"build-2784847793"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,1,13]],"date-time":"2015-01-13T00:00:00Z","timestamp":1421107200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Combined coagulation factor VII (FVII) and factor X (FX) deficiency (combined FVII\/FX deficiency) belongs to the group of bleeding disorders in which both factors show reduced plasma activity. It may arise from coincidental inheritance of separate coagulation factor deficiencies or a common cause as large deletions comprising both gene loci. The <jats:italic>F7 a<\/jats:italic>nd <jats:italic>F10<\/jats:italic> genes are located on the long arm of chromosome 13. Here, we describe 10 cases with combined FVII\/FX deficiency representing both genetic mechanisms of occurrence. Genetic analyses included direct sequencing of the <jats:italic>F7<\/jats:italic> and <jats:italic>F10<\/jats:italic> genes and MLPA (multiplex ligation\u2010dependent probe amplification) for detection of heterozygous large deletions. In four patients, the combined deficiency was due to a large deletion within the terminal end of chromosome 13. In the remaining six cases the deficiency resulted from coincidental inheritance of different genetic alterations affecting both genes independently. In most cases, the genetic defects were heterozygous, presenting with prolonged PT, normal <jats:styled-content style=\"fixed-case\">aPTT<\/jats:styled-content> and mild or no bleeding symptoms. Only in one case compound heterozygous mutations were detected in the <jats:italic>F10,<\/jats:italic> resulting in prolonged <jats:styled-content style=\"fixed-case\">aPTT<\/jats:styled-content> and a more severe bleeding phenotype. To avoid a misdiagnosis of combined FVII\/FX deficiency, analyses of single factor activities have to be performed in all cases with prolonged PT even if <jats:styled-content style=\"fixed-case\">aPTT<\/jats:styled-content> is normal. Genetic analyses are substantial for correct prediction of an inheritance pattern and a proper genetic counselling.<\/jats:p>","DOI":"10.1111\/hae.12604","type":"journal-article","created":{"date-parts":[[2015,1,13]],"date-time":"2015-01-13T12:40:46Z","timestamp":1421152846000},"page":"386-391","source":"Crossref","is-referenced-by-count":23,"title":["Congenital combined deficiency of coagulation factors <scp>VII<\/scp> and X \u2013 different genetic mechanisms"],"prefix":"10.1111","volume":"21","author":[{"given":"A.","family":"Pavlova","sequence":"first","affiliation":[{"name":"Institute of Experimental Haematology and Transfusion Medicine University Clinic Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Preisler","sequence":"additional","affiliation":[{"name":"Institute of Experimental Haematology and Transfusion Medicine University Clinic Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Driesen","sequence":"additional","affiliation":[{"name":"Institute of Experimental Haematology and Transfusion Medicine University Clinic Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"de Moerloose","sequence":"additional","affiliation":[{"name":"Division of Angiology and Haemostasis University Hospital and Faculty of Medicine Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Zieger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University of Freiburg Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"H\u00fctker","sequence":"additional","affiliation":[{"name":"Department of Pediatric Haematology and Oncology Dr. von Hauner Children's Hospital Ludwig\u2010Maximilians\u2010University Munich Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Dengler","sequence":"additional","affiliation":[{"name":"Medical Laboratory Bremen Bremen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Harbrecht","sequence":"additional","affiliation":[{"name":"Institute of Experimental Haematology and Transfusion Medicine University Clinic Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Oldenburg","sequence":"additional","affiliation":[{"name":"Institute of Experimental Haematology and Transfusion Medicine University Clinic Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,1,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90567-3"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.12.3699"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.8.2412"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH04-10-0650"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1054\/blre.2002.0191"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1225762"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1225763"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1225757"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2012.04653.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-1005073"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00304557"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.20132"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0929-693X(97)84307-2"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132141"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000153447"},{"key":"e_1_2_7_17_1","first-page":"33","article-title":"Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis","volume":"42","author":"Luquet I","year":"1999","journal-title":"Ann Genet"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.10237"},{"key":"e_1_2_7_19_1","first-page":"307","article-title":"Mateille N [De novo del (13) (q31.1\u2014qter) in a girl. 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