Kelsey G, Monagle P, Barnes C
Department of Haematology, Royal Childrens Hospital, Melbourne, Australia.
Clin Lab Haematol. 2006 Oct;28(5):355-6. doi: 10.1111/j.1365-2257.2006.00810.x.
Patients with Turner's syndrome are at risk of X-linked recessive disorders. We report a case of a young girl with Turner's syndrome with persistent mildly abnormal coagulation studies associated with a mild to moderate bleeding diathesis. The abnormalities were initially attributed to intrahepatic cholestasis and were partially responsive to vitamin K. After an interval of several years an episode of unexplained iron deficiency anaemia prompted re-investigation of the mild coagulopathy. Disproportionate reduction in the factor IX concentration and restoration of haemostasis with factor IX concentrate lead to a revised provisional diagnosis of mild haemophilia B which was subsequently confirmed by sequencing the factor IX gene.
特纳综合征患者有患X连锁隐性疾病的风险。我们报告了一例患有特纳综合征的年轻女孩，其凝血研究持续存在轻度异常，并伴有轻度至中度出血倾向。这些异常最初归因于肝内胆汁淤积，对维生素K有部分反应。几年后，一次不明原因的缺铁性贫血发作促使对轻度凝血病进行重新检查。IX因子浓度不成比例降低，使用IX因子浓缩物后止血恢复，这导致对轻度B型血友病的初步诊断得到修订，随后通过对IX因子基因进行测序得以证实。
