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About Hemophilia

  • Bleeding disorders is a broad term used for a wide range of medical problems that lead to continuous bleeding and poor blood clotting.
  • Many variations exist in clinical manifestations.
  • Individuals with bleeding disorders do not bleed faster. They BLEED LONGER due to their body’s inability to clot adequately.
  • Affects all socioeconomic and racial groups equally.
  • Severity level is consistent between family members.

History of Hemophilia

  • Earliest records documenting this disorder date back 2,300 years.
  • Known as the “royal disease”. Queen Victoria of England was an obligatory carrier of the defective gene, consequently passing the gene to the royal houses of Spain, Germany and Russia.
  • 1800’s blood transfusions were given to persons that had hemophilia to control their bleeding.
  • 1960’s cryoprecipitate discovered and was used for the treatment of hemophilia.
  • 1970’s development of factor VIII and factor IX concentrates for the treatment of hemophilia.
  • 1980's hepatitis C was already present in the blood supply, by the early 1980's a new blood-borne disease HIV emerged. Approximately half of the people with hemophilia in the U.S. eventually become HIV-infected and thousands died. The overwhelming impact of HIV and Hepatitis C on the bleeding disorders community reverberated well into the next decade.
  • 1990'S to PRESENT treatment for hemophilia and other bleeding disorders advanced in the 1990's. The safety and efficacy of factor concentrates improved greatly. Factor products became safer as tighter screening methods were implemented and advanced modes of viral inactivation were utilized. In addition, synthetic (not derived from plasma) factor products were manufactured using recombinant technologies.
    • In 1992, the Food and Drug Administration (FDA) approved the first recombinant factor VIII product. In 1997, the first factor IX product was granted FDA approval. Additional synthetic drugs such as desmopressin acetate (DDAVP) were also introduced to treat mild-to-moderate hemophilia A and von Willebrand disease.
    • By the mid 1990s prophylactic (a preventative treatment regimen) therapy in children with hemophilia became more common. Proponents argued that the implementation of prophylaxis would prevent the chronic bleeding episodes that typically characterized hemophilia. Since the advent of prophylaxis, children could look forward to a life of less pain, with less orthopedic damage associated with chronic bleeding. As a result, most children born with hemophilia in the U.S. today can look forward to long, healthy and active lives.
    • Today many adults practice prophylactic therapy.

Hemophilia

  • Hemophilia is a rare genetic bleeding disorder.
  • Caused by the absence or deficiency of one of the blood clotting proteins manufactured in the liver and found in the plasma of blood.
  • The most common types of hemophilia are:
    • Factor VIII (hemophilia A) deficiency.
    • Factor IX (hemophilia B) deficiency.
  • Hemophilia is classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood.
    • Normal: 50 – 150 % is normal.
    • Mild hemophilia: 6-49 %.
    • Moderate hemophilia: 1-5 %.
    • Severe hemophilia: < 1 %.
  • Left untreated, hemophilia often leads to severe joint damage, permanent disabilities and premature death.
  • Hemophilia affects 17,000 to 20,000 persons in the United States.
  • Almost exclusively male.
  • Factor VIII, Hemophilia A = 80%.
  • Factor IX, Hemophilia B = 20%.
  • 70% of Hemophilia population has severe form.
  • Occurs in 1 out of 7,500 live male births.
  • 50% are below age of 20 years.
  • 400 births annually.
    • 200 deaths annually.
    • Net gain: 200 cases annually.


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