2023 年第 1 期 第 18 卷

血友病A患者凝血因子Ⅷ抑制物产生机制及相关遗传因素研究进展

Research progress on the mechanism of coagulation factor Ⅷ inhibitor production and related genetic factors in patients with hemophilia A

作者：朱履锴杨林花王刚

英文作者：Zhu Lyukai Yang Linhua Wang Gang

单位：山西医科大学血液病学研究所山西医科大学第二临床医学院山西医科大学第二医院血液科，太原030000

英文单位：Institute of Hematology Shanxi Medical University the Second Clinical Medical College of Shanxi Medical University Department of Hematology Second Hospital of Shanxi Medical University Taiyuan 030000 China

关键词：血友病A；凝血因子Ⅷ抑制物；凝血因子Ⅷ基因突变；免疫应答基因多态性

英文关键词：HemophiliaA;CoagulationfactorⅧinhibitor;CoagulationfactorⅧgenemutation;Immuneresponsegenepolymorphism

• 摘要：

• 血友病A是一种发病率为1/5 000的出血性疾病，目前主要的治疗方式仍为替代治疗，治疗过程中产生凝血因子Ⅷ（FⅧ）的中和性抗体（FⅧ抑制物）是本病最大的并发症之一，将大大影响疾病治疗效果。抑制物的产生是多因素共同作用的结果，包括遗传因素和非遗传因素，遗传因素是主要因素，非遗传因素为次要因素。遗传因素包括FⅧ基因突变、免疫应答基因多态性、种族、家族史、血型。本文综述血友病A患者FⅧ抑制物产生机制及相关遗传因素的最新进展。

• Hemophilia A is a hemorrhagic disease with an incidence of 1/5 000. At present, the main treatment method is still alternative therapy. Neutralizing antibodies ［coagulation factor Ⅷ (FⅧ) inhibitors］ of FⅧ  developed during the treatment is one of the most severe complications of the disease, which will greatly affect the therapeutic effect of hemophilia. The inhibitor development results from multifactorial combination, including genetic factors and non genetic factors, with the former being the main factor and the latter being the secondary factor. Genetic factors include FⅧ gene mutation, immune response gene polymorphism, race, family history and blood type. This article reviews the recent progress in the production mechanism and related genetic factors of FⅧ inhibitor in patients with hemophilia A.