SymptomsCausesEffectsTreatmentAccommodationsBibliographyLinks
Hemophilia is a genetic disorder which prevents normal clotting of the blood. It is not curable but it is treatable.
Symptoms
Causes
Effects
Treatment
Accommodations
Bibliography
Links
Although hemophiliacs can have problems requiring treatment when they obtain a deep cut, the most severe symptoms of hemophilia stem from internal bleeding. Other than easily developing bruises, hemophiliacs also may experience deep muscle bleeding, joint bleeding, and mouth bleeding.
Deep Muscle Bleeding- This is bleeding that, as the name implies, can occur deep in any muscle of the body. It can occur through the whole length of the muscle and no improvement occurs until the hemophiliac is treated. The muscles are weakened so much that splints, slings, or crutches can be needed to give the hemophiliac's body support several days after treatment.
Joint Bleeding- This is where blood pools into major joints of the body, usually the elbows or knees. The hemophiliac often will put the joint into the flexed position. This makes the joint feel better, but what is actually happening is that more room is being opened up in the joint. This gives more room for the blood to pool in the joint. Eventually, the joint can become completely full of blood and will harden. This can be crippling.
Mouth Bleeding- This is simply bleeding that occurs in the mouth of the hemophiliac. Hemophiliacs describe it as annoying and messy, but it is not one of the most severe symptoms of the disease.
One of the misconceptions about hemophilia is that hemophiliacs bleed harder or faster than those people who do not have the disease. In fact, the only difference between a hemophiliac's bleeding and that of a person without the disease is that a hemophiliac's bleeding is prolonged. A firm clot simply is not made.
Hemophilia is an X-linked genetic disorder caused by a missing plasma protein that is needed for the blood to form a clot. In the two most common types of hemophilia, Hemophilia A and Hemophilia B, the proteins missing from the blood are either factor 8 or factor 9. Hemophilia A, the more common of the two types, is factor 8 deficiency and hemophilia B is factor 9 deficiency. People of every social class and race are equally susceptible to getting hemophilia, but since the disorder is X-linked, males are much, much more likely to get it than females. Hemophilia also can be obtained non-genetically through what is called "acquired hemophilia". Not much is known about acquired hemophilia except that it is the spontaneous formation of an antibody against factor 8 or factor 9.
The main effect of hemophilia is that the blood cannot properly clot. In a person who does not have hemophilia, the body undergoes 28 chemical reactions to create a complete clot. In a hemophiliac, due to missing blood factor, the body cannot undergo all of those reactions and a firm clot cannot be made.
Hemophilia is currently treated with freeze-dried factor concentrate that a hemophiliac can administer to himself/herself at home. Since the freeze-dried factor comes from many donors, it is heat-treated to kill all HIV and Hepatitis C. A more expensive and less common treatment is that of using freeze-dried factor concentrate that is genetically engineered so that it comes from no donors. This type of treatment, known as "recombinant" factor, is newer and safer than the concentrate that comes from donors, but most hemophiliacs cannot afford it. Scientists are currently working on a type of gene therapy for hemophilia that would be an actual cure.
The main accommodations for hemophilia are changes in requierments and limits on physical activity. An example for a change in requierments is an adapted physical education class for a person with hemophilia. A person with hemophilia would also limit what physical activity they do. Instead of playing baseball with a hard ball they might use a softer ball to protect themselves.
Here are some sites that we found helpful when reasearching this topic:
World Federation of Hemophilia
NIH Guide: Gene Therapy For Hemophilias A and B. National Institutes of Health.
Hemophilia Treatment Center. Center for Thrombosis and Hemostasis.
The National Hemophilia Foundation. National Hemophilia Foundation.
Written by Nafis Ahmed, Andrew Barros, Ed Mahaney Walter. and Brian Umana
Last updated 12:09 PM 4/12/98