Shahriari Mahdi, Bazrafshan Asghar, Moghadam Mohamad, Karimi Mehran
Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Blood Coagul Fibrinolysis. 2016 Apr;27(3):352-3. doi: 10.1097/MBC.0000000000000424.
A 6-month-old girl was referred by an ophthalmologist because of postoperative bleeding. She was scheduled for operation because of persistent hyperplastic primary vitreous. Workups were done and prolonged partial thromboplastin time with normal platelet count, normal bleeding time, and prothrombin time were detected. There was negative family history of bleeding tendency in both maternal and paternal family, so at the first step, Factor XI assay was requested which was normal. Then, von Willebrand factor and factor VIII were assayed which was 127% and less than 1%, respectively. Severe factor VIII deficiency was not suspected in a girl unless in siblings of a hemophilic patient who gets married with her carrier cousin. Chromosomal study and genetic testing were requested and mosaic Turner syndrome (45 XO) with ring X (p22, 2q13) along with inversion 22 (hemizygote) was detected. Abdominal and pelvic sonography showed absence of both ovaries with presence of infantile uterus. Maternal genetic study was in favor of carrier of hemophilia (heterozygote inversion 22). To the best of our knowledge, this is the first case of association of Turner syndrome with severe hemophilia A and persistent hyperplastic primary vitreous.
一名6个月大的女孩因术后出血被眼科医生转诊。她因持续性增生性原发性玻璃体而被安排手术。进行了相关检查，发现部分凝血活酶时间延长，血小板计数正常、出血时间正常以及凝血酶原时间正常。母系和父系家族均无出血倾向的家族史，因此首先进行了XI因子检测，结果正常。随后检测了血管性血友病因子和VIII因子，分别为127%和低于1%。除非是血友病患者的兄弟姐妹与携带者表亲结婚所生的女孩，否则一般不会怀疑其患有严重的VIII因子缺乏症。进行了染色体研究和基因检测，检测出嵌合型特纳综合征（45,XO）伴有环状X染色体（p22, 2q13）以及22号染色体倒位（半合子）。腹部和盆腔超声检查显示双侧卵巢缺如，存在幼稚子宫。母亲的基因研究表明其为血友病携带者（22号染色体杂合子倒位）。据我们所知，这是首例特纳综合征与严重甲型血友病及持续性增生性原发性玻璃体相关联的病例。
