背景:血友病是X连锁的,由一种凝血因子(VIII或IX)的缺陷或缺乏引起的隐性遗传性疾病。它被认为是女性的罕见疾病。血友病影响女性的原因之一是特纳综合征。血友病合并特纳综合征是非常罕见的病例,但是特纳综合征的组合,血友病,因子V缺乏症是一个孤立的病例,从未在医学文献中记录过。
方法:在我们的例子中,一名5岁的叙利亚女孩出现牙龈出血,鼻出血,身材矮小。实验室测试表明:活化部分凝血活酶时间和凝血酶原时间延长,因子V(1%)和因子VIII(1%)缺乏。我们诊断血友病A与因子V缺乏。除了身材矮小,患者被发现有间隔的乳头和翼状颈部。我们进行了核型分析,显示一个X染色体缺失(45X0),特纳综合征.没有血友病或任何其他遗传疾病的家族史。
结论:在患有血友病的女性中,应该进行核型分析.不排除一种以上凝血因子缺乏组合的可能性是非常重要的,并且要注意,与单因素缺乏相比,多个因素缺乏不一定会增加出血的严重程度。
BACKGROUND: Hemophilia is an X-linked, recessive inherited disease caused by a defect or deficiency of one of the coagulation factors (VIII or IX). It is considered a rare disease in females. One of the reasons that hemophilia affects females is Turner syndrome. Hemophilia with Turner syndrome is a very rare
case, but the combination of Turner syndrome, hemophilia, and factor V deficiency is an isolated
case that has never been recorded in the medical literature.
METHODS: In our
case, a 5-year-old Syrian girl presented with hemorrhage of gum, epistaxis, and short stature. The lab tests showed: prolonged activated partial thromboplastin time and prothrombin time with deficiency of factor V (1%) and factor VIII (1%). We diagnosed hemophilia A with factor V deficiency. In addition to short stature, the patient was noted to have spaced nipples and winged neck. We performed karyotyping that showed deletion of one X chromosome (45X0), Turner syndrome. There is no family history of hemophilia or any other genetic disease.
CONCLUSIONS: In females affected with hemophilia, karyotyping should be performed. It is very important not to exclude the possibility of a combination of deficiency of more than one clotting factor, and to note that deficiency of more than one factor does not necessarily increase the severity of bleeding compared with deficiency of a single factor.