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Christmas disease.

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Hemophilia A↗

Chloroform at Christmas. An early reference from the Theatre-Royal, Edinburgh.

James Young Simpson first administered chloroform to one of his obstetric patients on 5 November 1847. The speed with which the discovery caught the popular imagination is illustrated by a comic scene in a pantomime which formed part of an entertainment in Edinburgh presented on 27 December in the same year.

Chloroform↗

Immunologic studies of factor IX (Christmas factor). II. Immunoradiometric assay of factor IX antigen.

A solid-phase two-site immunoradiometric assay has been developed which measures factor IX antigen levels as low as 0.0004 u per ml of plasma. In normal individuals, the factor IX antigen level correlated with the factor IX procoagulant level. In haemophilia B, 14 patients had markedly reduced antigen levels (less than 0.06 u/ml) and five had normal levels (greater than 0.60 u/ml).

Antigens↗

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.

Anemia↗