Hemophilia: The Clotting Disorder

Blood is an integral part of the human body. It works to transport oxygen and nutrients to various organs in the body and white blood cells fight against foreign agents that enter the body in order to beat and or prevent infection. Additionally, agents in blood work to heal injuries on the body through a process called clotting. Individuals that lack the ability to, or experience delayed clotting have a bleeding disorder. Among the various bleeding disorders is hemophilia, a disorder in which the blood doesn't clot as quickly as it is supposed to, or doesn't clot at all. Additionally, individuals with hemophilia may experience internal bleeding, especially in joint areas.

Causes of Hemophilia

Like other bleeding disorders, hemophilia is a genetic disorder, often inherited from a carrier parent. According to eMedicine (2007), "The transmission of this gene to offspring accounts for 70% of the cases of hemophilia. The remaining 30% occur from spontaneous changes in genes responsible for causing hemophilia." However, hemophilia can also be contracted during one's lifespan. An individual can contract hemophilia if their body develops antibodies to agents that cause clotting. When this happens the blood is no longer able to clot, and thus the individual is diagnosed with hemophilia.

What is clotting?

Although most people have a general idea of what clotting is, understanding the mechanics of clotting is important in gaining a thorough understanding of hemophilia and other bleeding disorders.

Clotting controls the blood that emerges during a bodily injury, including internal injuries. In response to a laceration, a chemical process occurs in which a substance called fibrin stops the bleeding, creating a solid from blood thus plugging the open section of tissue. Platelets in the blood bound together around the open wound within seconds of the injury (National Hemophilia Foundation, 2006). After the platelets plug the initial wound, blood proteins, calcium, platelets work together with the tissue to create a more complete fibrin clot which effectively stops the bleeding. This clot will stay in place, and even grow over time in order to prevent the wound from reopening. This is the reason why wounds start bleeding again when a scab is ripped off. It is not until the clot naturally dissolves that the body is amply healed.

Implications of Hemophilia

In hemophilia patients, important proteins necessary for the clotting process are missing or available in very limited numbers. This is due to the fact that the liver fails to produce these clotting factors. There are two forms of hemophilia type A, meaning you have little to none of the clotting factor VIII present in the blood. Hemophilia type B indicates little to none of the clotting factor IX. According to the National Heart Lung and Blood Institute (2007) "...7 out of 10 people who have hemophilia A have the severe form of the disorder." However, hemophilia can be diagnosed as moderate, mild, or severe, depending on how much clotting factor is available in the blood.

Hemophilia patients experience complications with even small cuts which can bleed excessively, unable to be stopped. The end result can be a lethal loss of blood. Making the situation worse, individuals with hemophilia often experience severe amounts of pain due to repeated bleeding into the joints of the knees, elbows, ankles that is debilitating (Chiras, 2005). This excessive bleeding into the joints can also cause damage to tissues and organs. These factors combined can sometimes make hemophilia fatal. Furthermore, excessive bruising, easily bleeding, common nose bleeds, and abnormal menstrual bleeding are common symptoms of hemophilia (National Hemophilia Foundation, 2006).

While intracranial bleeding is generally found only in very severe cases of hemophilia, it is life threatening. Bleeding into the nervous system (which includes the brain and spinal cord) is indicated by headaches, nausea, vomiting, seizures, backaches, and possibly paralysis.

Diagnosing Hemophilia

Symptoms of hemophilia often occur early on in life. In toddlers hemophilia can be suspected if bleeding comes easily after falls, or clotting is impaired or easily disrupted. Additionally, urine samples that show microscopic blood in the urine often indicate a bleeding condition. Other indicators are pain and swelling in the joints and muscles due to the aforementioned bleeding into these areas. This pain and swelling generally occurs after hitting the calf, forearm, or other common "bump" area. Additionally, pain and swelling sites may also lead to stiffness and make the individual more susceptible to recurring bleeding in the area.

Seemingly minor injuries, including head injuries, may cause significant bleeding and damage to the organs, joints, and nervous system. Each of these things are indicated by the aforementioned headache, nausea, vomiting, and seizure.

Blood tests are available to test for hemophilia through testing for certain facors, including measurement of clotting.

Treatment

Hemophilia is a very serious condition, and therapy is an expensive treatment to undergo. Currently, the only available therapy for hemophiliacs is a very regular doctor's schedule including transfusions of blood clotting agents every couple of days (Chiras, 2005; National Heart Lung and Blood Institute, 2007).

Mild cases can be self-treated through daily habits and cautions. Aspirin and ibuprofen can interfere with blood clotting, as can alcohol, so these should be avoided. Additionally, keeping hydrated can prevent difficulties that can arise from blood in the urine. Treating joint pain and swelling with ice can also aid in the healing process and is encouraged, as is seeing a physician anytime an injury occurs even if they are only minor injuries.

The last form of treatment is only a temporary fix, and is not effective in serious cases of hemophilia. DDAVP (Octostim) has been found to increase levels of factor VIII in hemophilia A patients. Another medication selection is Aminocaprioc acid and tranexamic acid which is used to assist in clotting and keeping clots in tact longer; however, they are only useful in oral bleeding.

Other Bleeding Disorder Causes

Delayed or reduced blood clotting can also result from leukemia, exposure to excessive radiation, or liver damage.

References:

Chiras, D, D. (2005). Human Biology, 5^th Edition. Sudbury, Mass., Jones and Bartlett Publishers. Pg 133 - 134.

eMedicine: WebMD. (2007). Hemophilia. Retrieved February 25, 2008, from http://www.emedicinehealth.com/hemophilia/article_em.htm

National Heart Lung and Blood Institute. (2007). What is Hemophilia? Retrieved February 26, 2008, from

http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html

National Hemophilia Foundation. (2006). What is a Bleeding Disorder? Retrieved February 25, 2008, from http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=2&contentid=5&rptname=bleeding

Resources:

Support groups can be found at the National Hemophilia Foundation, or you can call (800) 42-HANDI