Hemophilia--an ancient disease with new problems and new solutions

A bleeding disorder occurring in brothers was described by Talmudic rabbis in 500 A.D. Hemophilia A is now known to be due to a sex-linked deficiency of plasma factor VIII activity. The isolation of factor VIII from plasma in lyophilized concentrate has provided effective treatment and resulted in significant health and economic benefits for individuals with hemophilia. Treatment associated viral hepatitis and HIV infection have spurred the development of serologic screening of blood donors and viral inactivation techniques which have resulted in improved safety of plasma derived concentrate. Knowledge of the gene for factor VIII has led to development of recombinant factor VIII concentrate, and provides promise for gene replacement therapy in the future. The presence of the Human Immunodeficiency Virus (HIV) in plasma products exposed many individuals with hemophilia to the risk of developing the Acquired Immune Deficiency Syndrome (AIDS). Their medical care now includes testing for HIV exposure, AIDS risk reduction counseling, monitoring of immune parameters with prophylactic anti-HIV therapy for immunocompromised individuals, and treatment of opportunistic infections in those developing AIDS.