Department of Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Department of Clinical Pathology/Hematology, Faculty of Medicine, Fayoum University, Fayoum, Egypt.
Clin Appl Thromb Hemost. 2023 Jan-Dec;29:10760296231182410. doi: 10.1177/10760296231182410.
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 and 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 > G) causing a pathogenic variant of the gene and another splicing site point mutation in intron/exon 23 (g.164496G > A). The frequent variants were (c.409A > C, p.T137P) in exon 4, (c.760A > G) in exon 6, and (c.1835G > C, p.R612P) in exon 12, while the frequent variants were (c.580A > G) in exon 6 and (c.880C > T) 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.
世界卫生组织和世界血友病联盟强烈鼓励建立血友病患者国家筛查计划。因此，本研究旨在分析阿拉伯血友病患者的 和 基因变异谱。对 135 名沙特血友病患者进行了分子遗传学和测序研究。在所筛选的所有血友病患者（97 例血友病 A 和 39 例血友病 B）中，有 15 例（11.1%）存在 22 号倒位，4 例（3%）存在 1 号倒位。在总共 32 例（23.7%）取代/缺失突变中，发现了 2 种新的变异：一种新的剪接受体位点错义突变（c.5816-2A > G）导致 基因的致病性变异，以及另一种在内含子/外显子 23 中的剪接位点点突变（g.164496G > A）。常见的 变异包括外显子 4 中的 c.409A > C，p.T137P，外显子 6 中的 c.760A > G，以及外显子 12 中的 c.1835G > C，p.R612P，而常见的 变异包括外显子 6 中的 c.580A > G 和外显子 8 中的 c.880C > T。这些研究数据将丰富阿拉伯人群遗传数据库的谱，未来可应用于国家遗传咨询。
