Pathophysiology and assessment of haemophilia, Biology

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Pathophysiology 

The blood clotting mechanism occurs in three phases each dependent on preceding I phase. Due to the inherited deficiency of  factor VIII and or factor IX, there is alteration in the rate of  activation of  the intrinsic path way. As a result of  this, children show manifestation  of prolonged bleeding. I 

Assessment 

A  child with haemophilia presents with: 

i) Haemorrhage: You will see that even slight cut or bruise or minor trauma like a CI tooth extraction, injection, biting of tongue can induce extensive bleeding  in the child. Skin haemorrhages of various size and shape with raised, hard purplish black centres are characteristic. Bleeding can be  from the nose, mucous membrane of gums, lips and tongue, gastrointestinal system and kidney. 

ii)  Hemarthrosis: This is the hall mark of  the disease which occurs frequently in the elbows, knees and ankles. Joint bleeding can be a spontaneous event or can result from trauma. The affected joint is painful, warm and swollen. There may I be decrease joint motion and eventual joint degeneration owing to osteoporosis or muscle atrophy. There can be pallor proportionate to pre-existing anaemia and blood loss. , Diagnostic evaluation includes positive family history, manifestaton  of clinical  signs and symptoms, laboratory tests which  include  complete blood count, platelet function test, and clotting studies which show prolonged, partial thromboplastin time (PTT) and deficient levels of clotting factors. 


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