FABROA, MARIA JESSICA ERLINDA P.

BSN III
HEMOPHILIA NARRATIVE PATHOPHYSIOLOGY

Hemophilia is a genetic bleeding disorder resulting from the insufficient levels of

clotting factors in the body. Hemophilia can be classified into two, the Hemophilia A and
Hemophilia B (Christmas Disease). Two inherited bleeding disorders—hemophilia A and
hemophilia B—are clinically indistinguishable, although they can be distinguished by
laboratory tests. Hemophilia A is caused by a genetic defect that results in deficient or
defective factor VIII. Hemophilia B (also called Christmas disease) stems from a genetic
defect that causes deficient or defective factor IX. (Cheever & Hinkle, 2019). Both types of
hemophilia are inherited as X-linked traits, so most affected people are males; females can
be carriers but are almost always asymptomatic. However, it is estimated that one third of
cases result from spontaneous mutations, rather than through familial transmission (Dunn,
2015).
Hemophilia A is also known as classical hemophilia, is a genetic bleeding disorder
caused by insufficient levels of a blood protein called factor VIII. Factor VIII is a clotting
factor. Clotting factors are specialized proteins that are essential for proper clotting, the
process by which blood clumps together to plug the site of a wound to stop bleeding.
Individuals with hemophilia A do not bleed faster or more profusely than healthy individuals,
but, because their blood clots poorly, they have difficulty stopping the flow of blood from a
wound. This may be referred to as prolonged bleeding or a prolonged bleeding episode.
Hemophilia A can be mild, moderate or severe, depending on the baseline level of factor VIII
made by that individual. In mild cases, prolonged bleeding episodes may only occur after
surgery, dental procedures or trauma. In more severely affected individuals, symptoms may
include prolonged bleeding from minor wounds, painful swollen bruises, and unexplained
(spontaneous) bleeding into vital organs as well as joints and muscles (internal bleeding).
While Hemophilia B is a rare genetic bleeding disorder in which affected individuals have
insufficient levels of a blood protein called factor IX. Factor IX is a clotting factor. Clotting
factors are specialized proteins needed for blood clotting, the process by which blood seals
a wound to stop bleeding and promote healing. Individuals with hemophilia B do not bleed
faster than unaffected individuals, they bleed longer. This is because they are missing a
protein involved in blood clotting and are unable to effectively stop the flow of blood from a
wound, injury or bleeding site. This is sometimes referred to as prolonged bleeding or a
bleeding episode. Hemophilia B is classified as mild, moderate or severe based upon the
activity level of factor IX. In mild cases, bleeding symptoms may occur only after surgery,
injury or a dental procedure. In some moderate and most severe cases, bleeding symptoms
may occur after a minor injury or spontaneously, meaning without an identifiable cause.
Hemophilia B is caused by the changes (mutations) in the factor IX (F9) gene on the X
chromosome. Hemophilia B is mostly expressed in males but some females who carry the
gene may have mild or, rarely, severe symptoms of bleeding.

Life expectancy in hemophilia varies, depending on whether patients receive

appropriate treatment. Many patients still die before adulthood due to inadequate treatment.
With proper treatment, life expectancy is only about 10 years less than healthy men.

REFERENCES:

Cheever, K. H., & Hinkle, J. L. (2018). Brunner & Suddarth's textbook of medical-
surgical nursing. Philadelphia: Wolters Kluwer.

Hemophilia A. (2020, June 16). https://rarediseases.org/rare-diseases/hemophilia-b/.

Hemophilia B. (2020, June 16). https://rarediseases.org/rare-diseases/hemophilia-b/.