| hemophilia | <disease, haematology> A haemorrhagic diathesis occurring in two main forms: 1. Haemophilia A (classic haemophilia, factor VIII deficiency), an X linked disorder due to deficiency of coagulation factor VIII. 2. Haemophilia B (factor IX deficiency, Christmas disease), also X linked, due to deficiency of coagulation factor IX. Both forms are determined by a mutant gene near the telomere of the long arm of the X chromosome (Xq), but a different loci and are characterised by subcutaneous and intramuscular haemorrhages, bleeding from the mouth, gums, lips and tongue, haematuria and haemarthroses. (18 Nov 1997) |
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