Medical Surgical Nursing: Understanding Hemophilia

What Is Hemophilia?

Hemophilia (heem-o-FILL-ee-ah) is a rare, inherited bleeding disorder in which

your blood doesn’t clot normally. If you have hemophilia, you may bleed for a
longer time than others after an injury. You also may bleed internally, especially
in your knees, ankles, and elbows. This bleeding can damage your organs or
tissues and, sometimes, be fatal.

The effects of this sex-linked, X chromosome disorder are manifested almost

entirely in males, although the gene for the disorder is inherited from the mother.
Females have two X chromosomes while males have only one, lacking a 'back up'
copy for the defective gene. Females are therefore almost exclusively carriers of
the disorder, and may have inherited it from either their mother or father. In
about 30% of cases of Hemophilia B, however, there is no family history of the
disorder and the condition is the result of a spontaneous gene mutation[2]. A
mother who is a carrier has a 50% chance of passing the faulty X chromosome to
her daughter, while an affected father will always pass on the affected gene to his
daughters. A son cannot inherit the defective gene from his father.

People born with hemophilia have little to none of a protein needed for normal
blood clotting. The protein is called a clotting factor. There are several types of
clotting factors, and they work together with platelets to help the blood clot.
Platelets are small pieces of blood cells that are formed in the bone marrow. They
play a major role in blood clotting.

When blood vessels are injured, clotting factors help the platelets stick together
to plug cuts and breaks at the site of the injury to stop the bleeding. Without
clotting factors, normal blood clotting can’t take place. Sometimes people with
hemophilia need injections of a clotting factor or factors to stop bleeding.
There are two main types of hemophilia. If you have hemophilia A, you have little
to no clotting factor VIII (8). About 9 out of 10 people with hemophilia have type
A. If you have hemophilia B, you’re missing or have low levels of clotting factor IX
(9).

Hemophilia can be mild, moderate, or severe, depending on how much clotting

factor is in the blood. About 7 out of 10 people who have hemophilia A have the
severe form of the disorder. People who don’t have hemophilia have a factor VIII
activity of 100 percent; people who have severe hemophilia A have a factor VIII
activity of less than 1 percent.

In addition to being inherited, hemophilia also can be acquired, which means that
you can develop it during your lifetime. It can develop if your body forms
antibodies to the clotting factors in your bloodstream. The antibodies can block
the clotting factors from working. Only inherited hemophilia is discussed in this
article.

About 18,000 people in the United States have hemophilia. Each year, about
400 babies are born with the disorder. Hemophilia usually occurs only in males
(with very rare exceptions).