Abstract：
Hemophilia is an inherited X-linked bleeding disorder characterized by deficiencies of factors VIII or IX. Concomitant X chromosome disorders can impact bleeding phenotype, complicating timely diagnosis and disease management. Herein, we describe three cases of female and male pediatric patients with hemophilia A or B diagnosed between 6 days and 4 years old in the setting of skewed X chromosome inactivation, Turner syndrome, or Klinefelter syndrome. All of these cases had significant bleeding symptoms, and two patients required initiation of factor replacement therapy. One female patient developed a factor VIII inhibitor similar to that described in males with hemophilia A.
摘要：
血友病是一种以因子VIII或IX缺乏为特征的遗传性X连锁出血性疾病。伴随X染色体疾病可影响出血表型，复杂的及时诊断和疾病管理。在这里，我们描述了三例女性和男性儿科患者的血友病A或B在6天至4岁之间诊断为倾斜的X染色体失活，特纳综合征,或者Klinefelter综合征.所有这些病例都有明显的出血症状，两名患者需要开始因子替代疗法。一名女性患者开发了类似于男性血友病A的VIII因子抑制剂。
