[某医疗中心重症A型血友病患者FⅧ基因突变与FⅧ抑制剂产生的相关性分析]。

Lyu-Kai Zhu, Xia-Lin Zhang, Xiu-E Liu, Xiu-Yu Qin, Gang Wang, Lin-Hua Yang
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引用次数: 0

摘要

目的:探讨严重A型血友病(HA)患者FⅧ基因突变类型与FⅧ抑制剂发生的关系。方法:回顾性分析2009年1月~ 2020年9月172例重症A型血友病患者的病历资料。收集FⅧ基因突变类型及因子Ⅷ抑制剂的产生情况,分为高危突变组(内含子1反转、大缺失、无义突变)、低危突变组(错义突变、小缺失插入、剪接位点突变)和内含子22反转组。分析HA患者FⅧ基因型与FⅧ抑制剂产生的相关性。结果:172例严重HA患者中,21例(12.21%)出现FⅧ抑制剂。FⅧ抑制剂的累积发生率在高风险组(大缺失75%,内含子1反转43%,无义突变20%)中为32%(10/31),在低风险组(错义突变6%,小缺失或插入5%,剪接位点突变0%)中为5%(2/43),在内含子22反转组中为9%(9/98)。与内含子22倒置组相比,高危组FⅧ抑制剂发生风险较高(OR=4.7, 95% CI: 1.7 ~ 13.0),低危险组FⅧ抑制剂发生风险相等(OR=0.5, 95% CI: 0.1 ~ 2.3)。与低风险组相比,高危组FⅧ抑制剂发生风险更高(OR=9.8, 95% CI: 2.0 ~ 48.7)。结论:高危组严重HA患者内含子1倒置、大缺失、无义突变等基因突变是FⅧ抑制剂产生的危险因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Correlation Analysis of FⅧGene Mutation and the Production of FⅧ Inhibitor with Severe Hemophilia A Patients in a Single Medical Center].

Objective: To investigate the relationship between the type of FⅧgene mutation and the development of FⅧ inhibitors in patients with severe haemophilia A (HA).

Methods: The medical records of 172 patients with severe hemophilia A from January 2009 to September 2020 were reviewed. The types of FⅧgene mutations and the production of factor Ⅷ inhibitors were collected and divided into high-risk mutation group ( intron 1 inversions, large deletions, nonsense mutations), low-risk mutation group (missense mutations, small deletions and insertions, splice site mutations) and intron 22 inversions group. The correlation of FⅧgenotype and the production of FⅧ inhibitors in patients with HA were analyzed.

Results: Among 172 patients with severe HA, 21 cases(12.21%) developed FⅧ inhibitors. The cumulative incidence of FⅧ inhibitor development was 32%(10/31) in high risk group (75% patients with large deletions, 43% patients with intron 1 inversions, 20% patients with nonsense mutations) and 5%(2/43) in low risk group(6% patients with missense mutations, 5% patients with small deletions or insertions and 0% patient with a splice site mutation) and 9%(9/98) in intron 22 inversions group. Compared with the risk of FⅧ inhibitor development in intron 22 inversions group, the risk of FⅧ inhibitor development in high risk group was higher (OR=4.7, 95% CI: 1.7-13.0), the risk of FⅧ inhibitor development in low risk group was equal (OR=0.5, 95% CI: 0.1-2.3). Compared with the risk of inhibitor development in low risk group, the risk of FⅧ inhibitor development in high risk group was higher (OR=9.8, 95% CI: 2.0-48.7).

Conclusion: Gene mutations of patients with severe HA in high-risk group which include intron 1 inversions, large deletions, nonsense mutations are a risk factor for FⅧ inhibitor production.

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