Heamophilia.pptx.pdf

Hemophilia and Coagulation Disorders  HEMOPHILIA Often called ‘the disease of kings’ because it was carried by many members of Europe’s royal family. Queen Victoria of England was a carrier of Hemophilia 2  TYPES Disease...

Hemophilia and Coagulation Disorders  HEMOPHILIA Often called ‘the disease of kings’ because it was carried by many members of Europe’s royal family. Queen Victoria of England was a carrier of Hemophilia 2  TYPES Disease Factor deficiency Inheritance Hemophilia A VIII X linked recessive Hemophilia B IX X linked recessive Hemophilia C XI Autosomal recessive Parahemophilia V Autosomal recessive 4  X-linked recessive Hemophilia A (FVIII def): 80-85% Hemophilia B (FIX def) Mutations of the clotting factor gene Family H/O bleeding common, - generally affects males on the maternal side - 1/3 no family history – due to new mutations  Severity of Hemophilia is defined by measured level of clotting factor activity Distribution Clotting factor activity Severe hemophilia 50%