Delayed diagnosis of congenital factor IX deficiency (Christmas disease) in a girl with Turner's Syndrome.
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. Publication Types: Case Reports
Keywords: with turner, factor
Authored by Kelsey G, Monagle P, Barnes C. Department of Haematology, Royal Childrens Hospital, Melbourne, Australia.
Published in Clin Lab Haematol. 2006 Oct;28(5):355-6. The full report is available online. A subscription to the periodical may be required.
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