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Hemophilia

 

Hemophilia is a bleeding disorder due to inherited
deficiencies or abnormalities of coagulation factors. The
most common forms, Factor VIII or IX deficiency, are
inherited as X-linked recessive traits and essentially
occur only in males, though female carriers transmit the
abnormal gene. Deficiencies of all other factors are
inherited as autosomal recessive traits. 

Symptoms begin in childhood and persist throughout life.
They are similar in type regardless of which factor is
deficient, but vary with the severity of the deficiency and
are characterized by life threatening hemorrhage from
trivial injuries and by bleeding manifestations which are
virtually pathognomonic. Large dissecting intramuscular
hematomas, hematuria, and epixtaxis are also common. GI
bleeding is seen, usually originating from a lesion such as
a peptic ulcer. Traumatic or post surgical bleeding may
first begin hours or days after injury. Factor XII
deficiency is not associated with significant bleeding. 

If the bleeding site is accessible, pressure, packing with
gel foam or fibrin foam, or the use of topical hemostatics
such as thrombin may be of temporary value. However,
replacement of the missing factor in the form of normal
blood or blood products is usually essential. This must be
initiated as soon as possible, and should be maintained for
two to three days after bleeding has stopped. Therapy must
be individualized depending on the diagnosis, the severity
and location of the bleeding, and the preparation used.

 




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