{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:34Z","timestamp":1753861774720,"version":"3.41.2"},"reference-count":11,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T00:00:00Z","timestamp":1715731200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hemophilia A is a rare bleeding disorder with variable expressivity and allelic heterogeneity. Despite the advancement of prenatal diagnostics and molecular studies, the number of studies reviewing the reproductive choices of hemophilia A carriers and affected individuals remains limited. Through this retrospective review, we hope to gain a deeper understanding of hemophilia A\u2010affected individuals' clinical and molecular characteristics, as well as the reproductive choices of the at\u2010risk couples. A total of 122 individuals harboring likely causative <jats:italic>F8<\/jats:italic> gene alterations from 64 apparently unrelated families attending three centers between 3\/2000 and 3\/2023 were included in this study. Their clinical and molecular findings as well as reproductive choices were gathered in a clinical setting and verified through the electronic medical record database of the public health system. Forty\u2010seven affected males and 75 female heterozygous carriers were included in the analysis. Among 64 apparently unrelated families, 36 distinct pathogenic\/likely pathogenic variants were identified, of which 30.6% (11\/36) of variants were novel. While the majority of clinical findings and genotype\u2013phenotype correlations appear to be in accordance with existing literature, female carriers who had no fertility intention were significantly more likely to have affected sons than those who had fertility intention (5\/19 vs. 4\/5; <jats:italic>p<\/jats:italic>\u2009=\u20090.047). Through this retrospective review, we summarized the clinical and molecular characteristics of 122 individuals harboring pathogenic\/likely pathogenic <jats:italic>F8<\/jats:italic> variants, as well as their fertility intentions and reproductive outcomes. Further studies are required to look into the considerations involved in reproductive decision\u2010making.<\/jats:p>","DOI":"10.1002\/ajmg.a.63657","type":"journal-article","created":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T13:23:45Z","timestamp":1715779425000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and molecular characteristics of hemophilia <scp>A<\/scp> affected individuals and carriers: A 24\u2009years experience from three centers"],"prefix":"10.1002","volume":"194","author":[{"given":"Stephanie K. L.","family":"Ho","sequence":"first","affiliation":[{"name":"Clinical Genetics Service Unit, Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel Y. L.","family":"Ng","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service Unit, Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsz\u2010Kwai","family":"Yung","sequence":"additional","affiliation":[{"name":"Li Ka Shing Faculty of Medicine The University of Hong Kong  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myth T. S.","family":"Mok","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service Unit, Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wing\u2010Chung","family":"Yiu","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service Unit, Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9720-7419","authenticated-orcid":false,"given":"Heidi H. Y.","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Queen Mary Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shirley S. W.","family":"Cheng","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service Unit, Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ho\u2010ming","family":"Luk","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service Unit, Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan F. M.","family":"Lo","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service Unit, Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7379-003X","authenticated-orcid":false,"given":"Anita S. Y.","family":"Kan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Queen Mary Hospital  Hong Kong SAR China"},{"name":"Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology Tsan Yuk Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5,15]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.14438"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-9120(90)90525-Y"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.7326\/M19-1208"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.15805"},{"volume-title":"GeneReviews((R))","year":"1993","author":"Konkle B. A.","key":"e_1_2_11_6_1"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0041-1730036"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01415.x"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2010.02444.x"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.14396"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1546"},{"volume-title":"Report on the annual global survey 2021","year":"2022","author":"World Federation of Hemophilia","key":"e_1_2_11_12_1"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63657","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T15:25:56Z","timestamp":1728487556000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63657"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,15]]},"references-count":11,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1002\/ajmg.a.63657"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63657","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,5,15]]},"assertion":[{"value":"2024-03-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63657"}}