{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T21:49:39Z","timestamp":1781732979753,"version":"3.54.5"},"reference-count":20,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T00:00:00Z","timestamp":1733961600000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100017959","name":"Health Commission of Hebei Province","doi-asserted-by":"publisher","award":["GZ2020033"],"award-info":[{"award-number":["GZ2020033"]}],"id":[{"id":"10.13039\/100017959","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014882","name":"Department of Finance of Hebei","doi-asserted-by":"publisher","award":["2018674"],"award-info":[{"award-number":["2018674"]}],"id":[{"id":"10.13039\/501100014882","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>It is very difficult to identify the genetic variation of haemophilia A. We examined a case report from a sizable, uncommon haemophilia family, analysing the application of DHPLC in the diagnosis of haemophilia A. The comprehensive clinical data and laboratory assessments of the proband within the family were meticulously compiled. Subsequent to this, tests were conducted to evaluate the activated partial prothrombin time (APTT) and the clotting activity of coagulation factor VIII (F VIII: C). Polymerase chain reaction (PCR) techniques were employed to identify any inversions within the F8 gene's introns 22 and 1. Thereafter, direct sequencing methodology was utilised to sequence all exons of the F8 gene. To analyse the copy number variations across all exons of the F8 gene, a multiple PCR combined with denaturing high\u2010performance liquid chromatography (DHPLC) approach was adopted. In addition, specific pathogenic mutations predisposing to progenitor cell disorders were screened in family members. The APTT of the proband was 60\u2009s. F VIII: C is &lt;\u20091%. It was found that the progenitor F8 gene exon 14 had a 226\u2009bp insertion sequence, which was of unknown origin and was a pathogenic mutation. The analysis combined with this family situation is consistent with the expectation. The mutation was used as the detection target to complete the prenatal diagnosis. The pathogenic mutation found in this family is a rare large fragment insertion mutation. It is necessary to combine multiple experimental methods to improve the success rate of genetic diagnosis of haemophilia A.<\/jats:p>","DOI":"10.1111\/jcmm.70275","type":"journal-article","created":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T08:20:38Z","timestamp":1733991638000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic Diagnosis and Prenatal Diagnosis of a Rare <scp>FVIII<\/scp> Family With Haemophilia A"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-2165-6515","authenticated-orcid":false,"given":"Yaya","family":"Yang","sequence":"first","affiliation":[{"name":"Reproductive Genetics Department Hebei General Hospital  Shijiazhuang Hebei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yidan","family":"Wang","sequence":"additional","affiliation":[{"name":"Reproductive Genetics Department Hebei General Hospital  Shijiazhuang Hebei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5731-7082","authenticated-orcid":false,"given":"Jian","family":"Gao","sequence":"additional","affiliation":[{"name":"Reproductive Genetics Department Hebei General Hospital  Shijiazhuang Hebei China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,12]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"Mutation Screening and Functional Analysis of F 8\u00a0Gene in Patients With Severe Hemophilia A","author":"Zheng C.","year":"2020"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00508"},{"key":"e_1_2_11_5_1","first-page":"1211","article-title":"Application of Bionano\u2010DNA Full\u2010Length Optical Mapping Technology in Genetic Diagnosis of Hemphilia A Carriers","volume":"31","author":"Si\u2010Ying N. I. U.","year":"2023","journal-title":"Journal of Experimental Hematology"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2007.01487.x"},{"key":"e_1_2_11_7_1","volume-title":"Study on the Specific Expression of Human Recombinant Coagulation Factor VII in Mouse Mammary Gland","author":"Yi L.","year":"2021"},{"key":"e_1_2_11_8_1","volume-title":"Screening and Anticoagulation of DNA Aptamers for Human Factor X","author":"Shuang Y.","year":"2022"},{"key":"e_1_2_11_9_1","volume-title":"Mutation Analysis in the F8 Gene and Prenataldiagnosis in Haemophilia A Families","author":"Feng Y.","year":"2021"},{"key":"e_1_2_11_10_1","volume-title":"Epitope Mapping of Human Coagulation Factor VIII","author":"Zhang X.","year":"2013"},{"issue":"1","key":"e_1_2_11_11_1","first-page":"16","article-title":"Consideration on the Current Situation of Genetic Diagnosis of Hemophilia","volume":"37","author":"Jing D.","year":"2020","journal-title":"Journal of Clinical Internal Medicine"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41596-022-00728-0"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1905068116"},{"issue":"7","key":"e_1_2_11_14_1","first-page":"1","article-title":"Gene Mutation Type in Hemophilia A Children and Its Relationship With Clinical Phenotype: A Study on 26 Cases","volume":"51","author":"Xuelian Z.","year":"2024","journal-title":"Chinese Practical Journal of Medicine"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.12495"},{"key":"e_1_2_11_16_1","volume-title":"Correlation of F8 Gene Mutation and the Development of Factor VIII Inhibitor in Patients With Severe Hemophilia A","author":"Lukai Z.","year":"2023"},{"key":"e_1_2_11_17_1","first-page":"58","article-title":"Classification of Factor VIII Genemutationsaccording to Risk of Inhibitor Formation","volume":"14","author":"Oldenburg J.","year":"2008","journal-title":"Haemophilia"},{"issue":"3","key":"e_1_2_11_18_1","first-page":"565","article-title":"Partial Correction of a Severe Molecular Defect Inhemophilia A, Because of Errors During Expression of the Factor VIII Gene","volume":"60","author":"Young M.","year":"1997","journal-title":"American Journal of Human Genetics"},{"issue":"5","key":"e_1_2_11_19_1","first-page":"644","article-title":"Effects of B\u2010Domain Glycosylation Sites on the Secretion and Activity of Recombinant Factor VII","volume":"25","author":"Guang\u2010Wei G. A. O.","year":"2014","journal-title":"Letters in Biotechnology"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25073635"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s10020\u2010023\u201000680\u2010z"}],"container-title":["Journal of Cellular and Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.70275","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T10:17:56Z","timestamp":1735208276000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jcmm.70275"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12]]},"references-count":20,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1111\/jcmm.70275"],"URL":"https:\/\/doi.org\/10.1111\/jcmm.70275","archive":["Portico"],"relation":{},"ISSN":["1582-1838","1582-4934"],"issn-type":[{"value":"1582-1838","type":"print"},{"value":"1582-4934","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12]]},"assertion":[{"value":"2024-08-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70275"}}