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Hemophilia
There are several types of Blood Clotting Disorders. (These are also called Bleeding Disorders). The best known is hemophilia. Hemophilia A is the result of a deficiency of clotting factor VIII; hemophilia B is the deficiency of clotting factor IX. More than 17,000 people in the US have either hemophilia A or B. Hemophilia is usually inherited by male children from their carrier mother, but every year the incidence of hemophilia caused by genetic mutation rises. These hemophiliacs are born into families with no known history of hemophilia. Some of the genetic mutation cases are female. It is also possible for females to have inherited hemophilia. Female carriers of the hemophilia gene can be "symptomatic carriers", and have mild or very mild hemophilia.

Patients with blood clotting disorders have special health care needs from the cradle to the grave. They need to be recognized and diagnosed as early in life as possible. If they have severe factor deficiency, they will bleed spontaneously into their joints. Over time, the joints deteriorate and become arthritic. This results in the need for early, aggressive orthopedic management to prevent long term disabilities. They may bleed spontaneously into the abdomen or the head, life threatening situations that would require rapid recognition and treatment.

Bleeding disorders are treated by replacing the missing clotting factors in the blood. These clotting factors are found in whole blood and plasma concentrates. Before the advent of safer blood products in 1985; approximately 7500 hemophiliacs were infected with HIV; 20% of these went on to infect partners and children. Many patients were infected with hepatitis B and C. AIDS and hepatitis related liver diseases have had catastrophic impact on the hemophilia community, and have affected the care regimens of this population.

Today there are safer clotting factor replacement products available due to improved plasma screening and synthetic medications. These new products have less chance of carrying blood-borne illnesses.

UNDERSTANDING NORMAL CLOTTING
People bleed and clot all the time. If a person bumps himself, he may rupture blood vessels under the skin, which leaks blood into the surrounding tissue and causes a bruise. The same thing occurs when a person twists or sprains a joint, causing bleeding and bruising. When the bloods clotting system works normally, these bleeding episodes are self- limiting. When a person has hemophilia or a similar blood-clotting disorder, the clotting process is interrupted.

Blood flows through the body in a series of blood vessels known as the Circulatory System. Blood is living tissue comprised of different types of cells carried in a liquid called Plasma. One type of blood cells, Platelets, helps the blood to clot. When a blood vessel is damaged, it will first tighten itself to decrease the flow of blood. Platelets then begin to gather and stick around the edges of the torn vessel walls, forming a platelet plug. The blood contains proteins , called Clotting Factors that work in sequence to direct the rest of the clotting process. This is known as the Clotting Cascade, where clotting factors I through XIV perform their function and then instruct the next clotting factor to begin its own function., until thin strands of fibrin have woven themselves around the platelet plug like a net. Once the fibrin net is secure, the bleeding stops and new cells begin to form to heal the vessel.

People with hemophilia lack one (or sometimes more) of these clotting factors. This missing factor cannot alert the next factor in the clotting sequence and the clotting process cannot complete itself. The creation of the fibrin net stops and the person with hemophilia continues to bleed. Hemophiliacs do not bleed any faster than anyone else, however, their bleeding is usually markedly prolonged. Many people believe that hemophiliacs bleed faster than everyone else, or that they will bleed to death from a minor cut. These are common misconceptions, and simply not true!

COMMON SYMPTOMS OF BLOOD CLOTTING DISORDERS
Families with a history of clotting disorders have an advantage for early diagnosis of their children. These children can be diagnosed essentially at birth with cord blood testing. It is possible to do genetic mapping from placental tissue while the child is still in the womb. It is the recognition and diagnosis of clotting disorders in the absence of family history that is particularly challenging. The degree of clotting factor deficiency determines the frequency and severity of bleeding episodes. Mild deficiencies will result in prolonged bleeding only after surgery or trauma. Severe deficiencies cause bleeding to occur spontaneously, without trauma. Moderate deficiencies produce manifestations somewhere in between these two extremes. It is a common occurrence that the more mild the deficiency, the later in life the diagnosis will be made.

Patients may have:

 •   Prolonged bleeding from circumcision or PKU testing while still in the  
hospital nursery
 •   Bleeding into the brain from birth trauma  
 •   Excessive bruising  
 •   Bleeding into a joint , causing pain, swelling and immobility
 •   Prolonged bleeding while cutting teeth or after dental procedures  
 •   Frequent or prolonged nosebleeds
 •   Unusual or prolonged bleeding after surgery
 •   Bleeding more than would be expected from some degree of trauma
 •   Gastrointestinal tract bleeding
 •   Urinary tract bleeding

Patients who have these signs and symptoms could be recognized by their Family Practitioner, Pediatrician, Obstetrician-Gynecologist, an Emergency Department Physician or any number of medical , nursing or dental professionals. They should be referred on to a Hematologist or Hemophilia Treatment Center for further testing, diagnosis and treatment. These disorders are usually treated with intravenous clotting factor replacement medication. Most patients are treated at home with the assistance of Home Health Care agencies who supply the medications and nursing care if needed.

LIVING WITH HEMOPHILIA
People with bleeding disorders endure physical, emotional, financial and career challenges. Physical immobility and chronic pain result from repeated bleeding episodes into joints. Some patients suffer bleeding into the brain, which can result in life -long disability. This affects employment, family life and relationships. Many have an altered body image and poor self- esteem. Any child growing up with a chronic medical condition, especially one that does not allow him to always do all of the activities that his peers are doing, is at risk for emotional distress, altered body image and poor self-esteem. All family members experience some degree of stress from living with someone with a chronic condition. Many times, the activities of daily living are disrupted from unexpected bleeding episodes. It is difficult to make plans when one wakes up every day not knowing what that day will bring.

Medical care for blood clotting disorders is among the most expensive in the world. Most patients expect the annual cost to be at least $100,000.00, and that is if there are no complications that year! Adults with bleeding disorders, or parents of affected children, sometimes encounter discrimination from potential employers who do not want to provide health insurance for such a financially catastrophic illness.

Scientists are working on a cure for bleeding disorders. Gene Therapy is one approach that shows great promise. Researchers hope to find a way to insert the normal gene for factor VIII or factor IX into a viral cell that has been emptied out. This cell will carry the normal gene into the body’s cells, where it will provide a blueprint for the abnormal cells to produce normal clotting factor! There is still much work to be done, but there has been a lot of progress in recent years.


For additional information on bleeding disorders you can contact:
    HAVEN
    (Hemophilia and von Willebrand's Education Network)
    3711 West 12th Street
    Suite 7
    Erie, PA  16505
    814-836-8361
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