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Christmas diseaseJoe Segen2016-11-25T09:05:35+00:00
Definition An X-linked recessive haemophilia (OMIM:306900), seen in 1 in 50,000 men, caused by a defect in coagulation factor IX.
Clinical findings Easy bruising, nosebleeds, bleeding gums, muscle haematomas, haemarthrosis
Management Factor IX concentrates
Molecular pathology Defects of F9 on chromosome Xq27.1, which encodes coagulation factor IX, cause haemophilia B (Christmas disease).
Synonyms Factor IX deficiency, haemophilia B, haemophilia B(M)—included, Haemophlia B Leyden included, F9 deficiency, plasma thromboplastin component deficiency
Christmas disease was named after the index patient, a Stephen Christmas, then five years old, fittingly first described in the 1952 Christmas issue of the British Medical Journal. Mr Christmas died in 1993 at the age of 46 from AIDS contracted through treatment of his haemophilia with HIV-infected blood products.