Hemophilia

Hemophilia A

A deficiency of clotting Factor VIII (factor 8) is classified as Hemophilia A. It is a hereditary disorder in which the clotting ability of the blood is impaired and excessive bleeding results. Uncontrolled internal bleeding can result in pain, swelling, and permanent damage, especially to joints and muscles.

Hemophilia A is caused by an inherited sex-linked recessive trait with the defective gene located on the X chromosome. Females are carriers of this trait. Fifty percent of the male offspring of female carriers have the disease and 50% of their female offspring are carriers. All female children of a male with hemophilia are carriers of the trait, and are called obligate carriers. One third of all cases of hemophilia A occur when there is no family history of the disorder. Called a spontaneous mutation, these cases of hemophilia develop as the result of a new or spontaneous gene mutation. Genetic counseling may be advised for carriers. Female carriers can be identified by a testing procedure called DNA Carrier Testing. The only way a female could have hemophilia is if her father has it and her mother carries the gene, or if she developed Aquired Hemophilia which is very rare. Women who are carriers can also be asymptomatic carriers, whereby they do experience factor deficiencies.

Severity of symptoms can vary, and severe forms usually become apparent early in life. Prolonged bleeding is the hallmark of hemophilia A and typically occurs when an infant is circumcised as hemophilia occurs primarily in boys. Additional bleeding manifestations make their appearance when the infant becomes mobile.

Mild cases may go unnoticed until later in life when there is excessive bleeding and clotting problems in response to dental procedures, surgery or trauma.

Generally, the first bleeding episode occurs before 18 months of age, often after a minor injury. A child who has hemophilia bruises easily. Even an injection into a muscle can cause bleeding that results in a large bruise (hematoma). Recurring bleeding into the joints and muscles can ultimately lead to crippling deformities.

Internal bleeding may occur anywhere in the body. Bleeding into joints, however, is most common. The incidence of hemophilia A is 1 out of 10,000 live male births. About 17,000 Americans have hemophilia. Women may have it, but it’s very rare. There is no cure for hemophilia. With proper treatment and specialized management, the outcome is good. Most men with hemophilia are able to lead successful and relatively normal lives.

Bleeding episodes can also be life threatening when it occurs in sensitive areas. Bleeding can swell the base of the tongue until it blocks the airway, making breathing difficult. A slight bump on the head can trigger substantial bleeding in the skull, causing brain damage and death. A doctor may suspect hemophilia in a child whose bleeding is unusual. A laboratory analysis of blood samples can determine whether the child’s clotting is abnormally slow. If it is, the doctor can confirm the diagnosis of hemophilia A and can determine the severity by testing the activity of factor VIII.

 

Hemophilia B

Hemophilia B (also called “Christmas disease”) is a deficiency in clotting factor IX. Hemophilia A is 7 times more common than Hemophilia B. The incidence of Hemophilia B is 1 out of 34,500 men. The outcome is good with proper treatment and specialized management. Most people with Hemophilia B are able to lead successful and relatively normal lives.

 

Hemophilia Treatment

Both Hemophilia A and B are treated by infusing a factor product that replaces the patient’s missing clotting factor. The amount infused depends upon the severity of the bleeding episode, the site of the bleed, and the weight of the patient. Factor products are intended for home use and can be self-administered (self-infused), either on a regular basis to prevent bleeding or at the first sign of bleeding. Prophylaxis is the treatment method most commonly used. It involves infusing factor product on a regular schedule in order to prevent bleeding episodes from occurring. By treating before a bleed occurs, factor levels in the blood are more normalized which helps to prevent bleeding episodes and the pain and damage they cause. Both the dose and frequency of factor replacement depend on the severity of the bleeding problem. The dose is adjusted according to the results of periodic blood tests. During a bleeding episode, higher doses of factor product are often needed.

To prevent a bleeding crisis, people with hemophilia and their families can learn to administer factor products at home, and in advance of a heavy period of physical activity, or at the first signs of bleeding.

Centers of excellence for the treatment of bleeding disorders exist throughout the country.  The Centers for Disease Control have established that people who do not seek treatment have an 80% greater chance of morbidity and mortality than those patients who do. It is recommended that each hemophilia patient receive an annual checkup, called an annual comprehensive evaluation. At this visit, patients are seen by a physician, a physical therapist, a nurse, a social worker, and others who are integral to bleeding disorder care in a one-stop visit. By bringing together multiple disciplines in one visit, patients are evaluated on many levels. The medical staff then meet to make treatment recommendations in a coordinated effort to enhance the patient’s treatment and quality of life.