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Case Summary
1.
Hemophilia is a sex-linked recessive disorder affecting males.
Severe hemophiliacs produce less than 1% of clotting Factor VIII
(Hemophilia A) or Factor IX (Hemophilia B). Absence of
either of these clotting factors causes a defect in the intrinsic
clotting mechanism and the patient is unable to produce normal
fibrin clots to stop bleeding.
2.
The symptoms of Hemophilia include excessive bleeding. This
bleeding may occur externally due to injury but more often occurs
spontaneously as bleeding into the joints. Symptoms are
often first evident during circumcision. In this case, the
infant had not been circumcised. Symptoms did not become
evident until the infant became mobile. These symptoms
manifested themselves as bleeding from the mouth due to injury,
and bruising due to internal bleeding. Spontaneous bleeding
into the joints can lead to joint deformities and arthritis.
3.
The diagnosis of Hemophilia was made based upon the patient's
symptoms, family history, and bleeding tests. Diagnostic
tests included a platelet count, bleeding time, PT, and APTT.
A prolonged APTT led to Factor Assay testing which showed less
than 1% of factor VIII present in the blood.
4.
Treatment of Hemophilia consists of replacing the deficient
factor. Factor can be replaced routinely to control
spontaneous bleeding but often is used only when the patient has
started to bleed spontaneously or is undergoing dental work or
surgery. Limited factor replacement is done to avoid
expense and also to avoid unnecessary exposure to blood borne
viruses. Directed donor cryoprecipitate is the least
expensive method of treatment. Patients use a
donor they know is "safe" who donates plasma as
needed. Cryoprecipitate, rich in factor VIII, is made from
the donor plasma. Varying levels of purified
cryoprecipitate are also available to the patient.
Recombinant Factor Replacement is genetically engineered factor
VIII. This is free of contaminating viruses but the most
expensive treatment alternative.
5.
The prognosis for hemophiliacs is much better than in the past.
New treatment methods are relatively safe from AIDS and
Hepatitis viruses. With frequent injections of
factor replacements, joint deformities and arthritis can be
alleviated. Scientists are currently experimenting with
using genetic engineering as a "cure." Genes that
produce the missing factor are inserted by viral vectors into the
patient's cells. These cells now begin to produce the
missing factor. This method is currently being tested in
humans.
6. The only method of prevention for
Hemophilia is to not pass the x-linked gene. This poses a very
difficult and personal dilemma for women who are carriers of the
gene or for hemophiliac males; the question of having children
who are at risk or to not have children.
7.
Although the healthcare workers listed in this case are minimal,
many healthcare workers will be involved throughout Steven's
life. In this case, the pediatrician made the diagnosis.
He referred Steven to a hematologist, a doctor specializing in
disorders of the blood. A clinical laboratory scientist
performed the coagulation studies on the blood which provided the
data for diagnosis. A genetic counselor was involved to map
out a pedigree chart and counsel with family members who are
carriers of the gene. As Steven matures and encounters
spontaneous bleeding into the joints, he will most likely need
the services of a radiologist and radiologic technician for
imaging studies as well as a physical therapist to help
rehabilitate the joints after a bleed. Nurses, in this
case, would be responsible for injecting cryoprecipitate, and
educating the family so that injections can be given at home.
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