Pathology and Symptoms of Hemophilia

Hemophilia

Condition Overview

Hemophilia a hereditary blood clotting disease. It is characterized by a lack of blood clotting factors, which results in excessive bleeding. (Chabner, 2014, p. 517). A person with hemophilia has a normal platelet count, however, there is a deficiency in factor VIII or IX. The lack of these clotting factors results in prolonged coagulation times. Hemophiliac patients often bleed into weight-bearing joints, such as the knees and ankles. (Chabner, 2014, p. 517). Hemophilia is hereditary and is often inherited by male children. (Yi-Bin Chen, 2013).

Pathophysiology

Coagulation, also known as blood clotting, requires many different chemicals reactions and substances in order to complete the process. The first sign of coagulation after an injury to the blood vessels or tissues is the collection of sticky platelets at the site of injury. Once the platelets begin to aggregate, clotting factors (plus calcium, prothrombin, and thrombin) will help convert fibrinogen to fibrin in order to form the final product, the blood clot at the site of the injury (Chabner, 2014, p. 508).

In a hemophiliac patient, the formation of the fibrin clot does not form at all or it takes much longer than the normal 15 minutes due to the lack of clotting factors VIII or IX (Chabner, 2014, p. 508). There are two common types if hemophilia. Hemophilia A is when the person is missing factor VIII and hemophilia B is when the person is missing factor IX. (Biogen Idec). Both types of hemophilia have the same symptoms and risk factors; it is simply based off of which blood-clotting factor is missing.

Risk Factors

The most common risk factor associated with hemophilia is a high risk of prolonged or excessive bleeding. Deep internal bleeding and bleeding into joints are other risk factors of hemophilia. (Mayo Clinic, 2011). rthritis and arthropathy can also occur as a result of bleeding in the joints. (Health Grades, 2013).

A sex-linked gene controls hemophilia. This makes hemophilia exclusively restricted to males. Women can carry the gene without being affected themselves (Laurence Urdang Associates, 1981, p. 188).

Symptoms

Symptoms of hemophilia include large or deep bruises, unexplained and excessive bleeding, blood in urine/stool, and joint pain/swelling. (Mayo Clinic, 2011). One of the most common symptoms is prolonged coagulation.

Tests & Treatment

A hematologist will obtain a blood sample from a suspected hemophilia patient to examine the blood for blood clotting deficiencies. A partial thromboplastin time (PTT) is a blood-clotting test that can be used to measure clotting factors and determine any bleeding problems.