血友病A(Hemophilia A,HA)是一种常见的X-连锁隐性遗传性出血性疾病,其发病机制是由于凝血因子Ⅷ(FⅧ)基因缺陷而引起FⅧ含量不足或功能缺乏,从而导致凝血功能障碍~([1-2])。重型患者中有30%~40%是由内含子22倒位所致,5%为内含子1倒位所致。因此,对于重型患者首先采取内含子22倒位和内含子1倒位检测来进行直接基因诊断。由于FⅧ基因庞大,对HA进行直接基因诊 Hemophilia A (HA) is a common X-linked recessive hereditary hemorrhagic disease whose pathogenesis is caused by the deficiency of FⅧ content or lack of function due to the deficiency of factor Ⅷ (FⅧ) gene, resulting in Coagulation dysfunction ~ ([1-2]). Severe patients, 30% to 40% due to inversions caused by 22 inversions, 5% due to intron 1 inversions. Therefore, direct diagnosis of genes is first performed in introspective patients with inversions of 22 inversions and intron 1 inversions. Due to the large gene FⅧ, direct genetic diagnosis of HA