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What is the clinical deficiency presented by hemophilic people? What is the genetic cause of that...

What is the clinical deficiency presented by hemophilic people? What is the genetic cause of that deficiency?

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What is the clinical deficiency presented by hemophilic people?

  • Hemophilia is a mostly inherited genetic blood clotting disorder. There are two types of Hemophilia - A and B
  • Both Hemophilia A and B are X linked recessive heriditary disorders.
  • Hemophilia A is caused due to the defective or deficient factor VIII
  • Hemophilia B is caused due to deficiency of factor IX. In some cases, factor IX may be present, but it is non-functional.

What is the genetic cause of that deficiency?

  • ​Hemophilia A is caused due to a mutation in the gene that encodes coagulation factor VIII.
  • This gene is present on chromosome Xq28
  • ​Hemophilia B is caused due to a mutation in the gene that encodes coagulation factor IX.
  • This gene is present on chromosome Xq27.1
  • Since Hemophilia is X-linked disorder, therefore, it can be passed down only from mother.
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