Coagulation cascade consists of two pathways - the intrinsic andextrinsic pathway. It is the deficiency of factor VIII or IX in theintrinsic pathway that causes hemophilia.
Clinical presentationMild hemophilia
patients (factor levels>5% and <50%) bleedonly after injury, invasive procedure or surgery. Carriers of hemophilia are also sometimes found to have factor levels in theMild range.
(factor levels - 2to 5%) experience morebleeds, about once a month, usually after trauma, surgery or extreme exertion. They usually bleed in the muscles and joints.Once a bleeding occurs in a particular area, these patients maycontinue to have bleeding episodes in those areas.
(factor level<1%) bleed spontaneouslyusually in joints, muscles and soft tissues.Joint and muscle bleeding may cause pain, tingling, heat,swelling, limited range of motion etc. It commonly occurs in theankles, elbows and knees but can also affect any joint in the body.Rarely, bleeding can occur in mucous membranes such as themouth, tongue, throat, nose etc.Hematuria may also occur.Central nervous system bleeds such as intracranial or spinal cordOther sites where major bleeds may occur is neck, throat, eye, GIsystem, hip, testes, retroperitoneum and following severe injury.