Christmas disease

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Christmas disease2016-11-25T09:05:35+00:00

Christmas disease

 

HAEMATOLOGY

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. 

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