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Questions and Answers
What is the main factor deficiency seen in hemophilia?
Factor VIII
Which coagulation factor is responsible for initiating thrombin formation in hemophilia?
Factor VIII
What kind of mutations can be found on the Factor VIII locus in hemophilia?
Severe molecular defects (large deletions, intron 22 inversions, nonsense mutations) or milder molecular defects like point mutations
What is the consequence of lacking Factor VIII as a cofactor in hemophilia?
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Why does bleeding occur in hemophilia?
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Where does bleeding commonly occur in patients with hemophilia?
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What is the commonest cause of death in hemophilia?
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What does a full haemogram typically show in hemophilia?
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What symptoms may patients with hemophilia present with depending on their Factor VIII activity level?
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What is the role of Factor VIII in the coagulation cascade?
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