遗传因素与血友病A凝血因子抑制物产生的研究进展

摘要

血友病A(HemophiliaA,HA)是一种X连锁隐性遗传性凝血功能障碍性疾病,由编码FⅧ(凝血因子Ⅷ)的基因突变引起的凝血因子不足或功能障碍所致.血友病A的治疗,在目前仍以凝血因子替代治疗为主.反复输注凝血因子制剂后会产生针对FⅧ的抗体,这是HA治疗的严重并发症之一.关于抑制物发生率,国内外文献报道差异较大.影响凝血因子抑制物产生的因素多种多样,主要分为遗传因素和环境因素,其中遗传因素是抑制物产生的主要因素.本综述主要阐述国内外HA凝血因子抑制物产生的相关遗传危险因素的研究现状.%Hemophilia A (Hemophilia A,HA) is an Ⅹ-linked recessive hereditary coagulation function disorder,the deficiency and dysfunction of blood coagulation were caused by the mutations of gene encoding clotting factor Ⅷ.The treatment of hemophilia A still depends on the replacement therapy with blood coagulation factor.However,the repeated infusion of clotting factor will produce the neutralizing antibody against F Ⅷ,then resulting in one of the serious complications.The reports on the incidence of inhibitor are different at home and abroad.Due to diverse factors,the inhibitors of hemophilia A clotting factor mainly can be divided into genetic and environmental factors,In this review,the inhibitors of hemophilia A clotting factor and their risk factors are briefly summarized.