{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T16:07:27Z","timestamp":1777478847448,"version":"3.51.4"},"reference-count":25,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Appl Thromb Hemost"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p>Establishing a national screening program for hemophilia patients is highly encouraged by the World Health Organization and the World Federation of Hemophilia. Hence, this study aimed to analyze the variant spectrum of F8 and F9 genes in Arab hemophilia patients. Molecular genetic and sequencing studies were performed on a cohort of 135 Saudi hemophilia patients. Out of all screened hemophilia patients (97 hemophilia A and 39 hemophilia B), 15 (11.1%) were positive for inversion 22 and 4 (3%) for inversion 1. Out of a total of 32 (23.7%) substitution\/deletion mutations, 2 novel variants were identified: a novel splice acceptor site missense mutation (c.5816-2A\u2009&gt;\u2009G) causing a pathogenic variant of the F8 gene and another splicing site point mutation in intron\/exon 23 (g.164496G\u2009&gt;\u2009A). The frequent F8 variants were (c.409A\u2009&gt;\u2009C, p.T137P) in exon 4, (c.760A\u2009&gt;\u2009G) in exon 6, and (c.1835G\u2009&gt;\u2009C, p.R612P) in exon 12, while the frequent F9 variants were (c.580A\u2009&gt;\u2009G) in exon 6 and (c.880C\u2009&gt;\u2009T) in exon 8. These study data will enrich the spectrum of the genetic databases in the Arab population that could be applied in the future for national genetic counseling.<\/jats:p>","DOI":"10.1177\/10760296231182410","type":"journal-article","created":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T03:38:18Z","timestamp":1690861098000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A\u2009&gt;\u2009G) Causing a Pathogenic Variant of the Factor 8 Gene"],"prefix":"10.1177","volume":"29","author":[{"given":"Tarek","family":"Owaidah","sequence":"first","affiliation":[{"name":"Department of Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6345-6097","authenticated-orcid":false,"given":"Salwa","family":"Bakr","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology\/Hematology, Faculty of Medicine, Fayoum University, Fayoum, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nouf","family":"Al-Numair","sequence":"additional","affiliation":[{"name":"Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hala","family":"AbaAlkhail","sequence":"additional","affiliation":[{"name":"Department of Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hazzaa","family":"Alzahrani","sequence":"additional","affiliation":[{"name":"Department of Adult Hematology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahasen","family":"Saleh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haitham","family":"Khogeer","sequence":"additional","affiliation":[{"name":"Department of Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"Tarawah","sequence":"additional","affiliation":[{"name":"Madinah Hereditary Blood Disorders Center, Department of Pediatric Hematology, King Salman Medical City, Madinah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hadeel","family":"Akkad","sequence":"additional","affiliation":[{"name":"Department of Hematology, National Blood Center, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faisal","family":"Al-Allaf","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Umm Al-Qura University Faculty of Medicine, Makkah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,8,1]]},"reference":[{"key":"bibr1-10760296231182410","doi-asserted-by":"publisher","DOI":"10.14740\/jocmr2876w"},{"key":"bibr2-10760296231182410","doi-asserted-by":"publisher","DOI":"10.1111\/hae.14206"},{"key":"bibr3-10760296231182410","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2019.221093"},{"key":"bibr4-10760296231182410","unstructured":"Prevalence of hemophilia worldwide is triple that of previous estimates, new study says. 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