Overview of Hemophilia and Bleeding Disorders

Hemophilia is a sex-linked genetic disorder. There is a deficiency or complete absence of one of the clotting proteins in the plasma. Without all clotting proteins present, the complete formation of a clot is not possible. Factor VIII and Factor IX deficiencies are commonly known as hemophilia. Hemophilia occurs in all ethnic and racial groups. It occurs in one of every 7500 live male births. Hemophilia patients are considered to be mild if they have more than 5% Factor VIII or IX in their plasma level; moderate hemophilia is 1% to 5%; severe hemophilia is considered at below 1%.

Treatment

The purpose of treating a bleed is to replace the deficient factor. If a bleed is treated in a timely manner, the outcome for the patient is more favorable. Treating a bleed requires specific dosing for the type of bleed and venous access for infusion of factor.

Comprehensive Care

A comprehensive team approach is the most effective mechanism for the person with hemophilia. This team should consist of health care professionals, including physicians, nurses, physical therapists, social workers, and dentists. OptionCare Hemophilia Services, in coordination with the physician and treatment centers, provides the in-home services needed for rapid response to bleeds at any time.

The History of Hemophilia (1)

The disease now known as hemophilia was mentioned in written records as early as 2000 years ago. By the fifth century A.D., hemophilia was recognized as an inherited disease that affects mostly males. As a result, rabbis declared that baby boys did not need to be circumcised if they had brothers or uncles who had bled to death during the procedure.

The transmission of hemophilia from unaffected mothers to their sons was first described in the United States in 1803, and the presence of the disease among the members of many European royal families during the 19th and 20th centuries is well known. All of the affected male royals were direct descendants of Queen Victoria of England, who is thought to be the first carrier of hemophilia in her family.

In the 1980’s, hemophilia made headlines as one of the first human disorders for which the responsible gene was identified and cloned.

The Causes of Hemophilia (1)

There are at least 10 substances in the blood called clotting factors that must work in a specific sequence in order to produce blood clotting. An abnormality in any of these factors can lead to bleeding problems. There are many types of inherited bleeding disorders, each caused by a defect or deficiency in one of the factors necessary for clot formation. This publication describes only the two most common of these bleeding disorders, Hemophilia A and Hemophilia B.

The Cost of Hemophilia Care (2)

New technology has led to remarkable advances in improving the safety of new blood products, particularly in relation to HIV.

Treatment of hemophilia has placed an enormous financial burden on people with this unique disorder, as well as their families. In fact, existing blood products are among the most costly therapies in the world.

Complications such as major surgery, or infection with HIV, can result in a rise in patient’s medical expenses.

The high price of research and development for better, safer clotting factor products is largely responsible for the cost of hemophilia treatment today.

Bibliographical References
1. “Inheritance of Hemophilia” Connie Miller, Ph.D, NHF, 1991
2. “What You Should Know about Hemophilia,” NHF, 1991