Pathophysiology

The pathophysiology of hemophilia is based on the deficiency of factor VIII or IX resulting in inadequate thrombin generation and an impaired intrinsic-pathway coagulation cascade (see Fig. 67-1). Factor VIII and IX genes are located on the X chromosome. Hemophilias are recessive X-linked diseases. Generally, affected males carrying either defective allele on their X chromosome do not transmit the gene to their sons. However, their daughters are obligate carriers. Over 2,100 mutations, deletions, and inversions have been identified throughout the factor VIII and IX genes.

Consequently, hemophilia is not a result of a single genetic mutation. However, inversion at intron 22 of the factor VIII gene accounts for 45% of severe hemophilia

A cases. Owing to the high incidence, this mutation is used for carrier and prenatal

testing.

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