heMOPHILiA
DESCRIPTION
Hemophilia is usually an inherited bleeding disorder in which
the blood does not clot properly. This can lead to spontaneous
bleeding as well as bleeding following injuries or surgery.
Blood contains many proteins called clotting factors that can
help to stop bleeding.
Etiology/Causes
Hemophilia is caused by a mutation or change, in one of the
gene, that provides instructions for making the clotting factor
proteins needed to form a blood clot. This change or mutation
can prevent the clotting protein from working properly or to
be missing altogether. These genes are located on the X
chromosome.
cilinical manifestations
Common signs of hemophilia include: Bleeding into the joints.
This can cause swelling and pain or tightness in the joints; it
often affects the knees, elbows, and ankles. Bleeding into the
skin (which is bruising) or muscle and soft tissue causing a
build-up of blood in the area (called a hematoma).
MEDICAL MANAGEMENTS
TREATMENT
The best way to treat hemophilia is to replace the missing blood clotting
factor so that the blood can clot properly. This is typically done by injecting
treatment products, called clotting factor concentrates, into a person’s vein.
Clinicians typically prescribe treatment products for episodic care or
prophylactic care. Episodic care is used to stop a patient’s bleeding episodes;
prophylactic care is used to prevent bleeding episodes from occurring. Today,
it’s possible for people with hemophilia, and their families, to learn how to
give their own clotting factor treatment products at home. Giving factor
treatment products at home means that bleeds can be treated quicker,
resulting in less serious bleeding and fewer side effects. Plasma-derived
Factor Concentrates Plasma is the liquid part of blood. It is pale yellow or
straw-colored and contains proteins such asantibodies, albumin, and clotting
factors. Several factor concentrate treatment products are available that are
made from human plasma proteins. All blood and parts of blood, such as
plasma, are routinely tested for viruses. The plasma is collected from many
people, and then it goes through several processes to separate it into
components, such as clotting factors. Recombinant Factor Concentrates Until
1992, all factor replacement products were made from human plasma. In
1992, the U.S. Food and Drug Administration (FDA) approved recombinant
factor VIII (concentrate, which does not come from human plasma. This
concentrate is genetically engineered using DNA technology. Commercially
prepared factor concentrates are treated to remove or inactivate bloodborne
viruses.
DIAGNOSTICS
About one-third of babies who are diagnosed with hemophilia have
no other family members with the disorder. A doctor might check for
hemophilia if a newborn is showing certain signs of hemophilia.
Diagnosis includes screening tests and clotting factor tests. Screening
tests are blood tests that show if the blood is clotting properly.
Clotting factor tests, also called factor assays, are required to
diagnose a bleeding disorder. This blood test shows the type of
hemophilia and the severity. Screening tests are blood tests that show
if the blood is clotting properly. Complete Blood Count
(CBC)Prothrombinz Time (PT) Test, Activated Partial Thromboplastin
Time (APTT) Test, Fibrinogen Test.
SURGERY
About 80 percent of bleeding episodes in hemophilia are in the joints
— mainly in the knees, elbows, and ankles. As a result, joint
replacement surgery is a common procedure for these patients. It is
highly recommended that any surgery — from planning to the
procedure itself to the postoperative period — should be managed by
a specialized and experienced multidisciplinary team in a hemophilia
treatment center. In these centers, patients have access to high-level
laboratory facilities and specialist medical support. The
multidisciplinary teams are usually made up of a hematologist, nurse,
orthopedic surgeon who specializes in disorders of the bones and
joints, anesthetist, physiotherapist, laboratory specialist, dentist,
pharmacist, and social worker and/or psychologist. With careful
planning, most surgical procedures can be safely carried out in
hemophilia patients, even those who have developed antibodies
against clotting factor therapy.
