Known as the "royal disease" because of its connection to Queen Victoria, hemophilia is a hereditary bleeding disorder resulting from the deficiency of a protein necessary for blood clotting. Queen Victoria, a carrier of hemophilia, passed the blood disorder from one generation to another and ultimately affected the future czar of Russia, Alexei Romanov. Alexei's mother, Alexandra, was Queen Victoria's granddaughter and, therefore, a hemophilia carrier. The deficient proteins, called factors, are classified as x-linked recessive genes, which assign the carrier-state to females.
Hemophilia A
Hemophilia A develops as a result of the deficiency of a protein called factor VIII and is the most prevalent of the hemophilias. The bleeding disorder is linked to the X chromosome, a female gene, and requires a female carrier-state to pass the disease to offspring. Hemophilia A primarily affects males, although females might develop the disease when the father is hemophiliac and the mother is a carrier. Bleeding can take place anywhere on the body, but the most likely areas include the joints, intestinal tract and muscles. Spontaneously bleeding into a joint is considered classic for this type. Standard treatment relies on infusion of factor VIII concentrates, with the amount dependent on the extent of the bleeding.
Hemophilia B
Hemophilia B, also called Christmas disease, is less prevalent and develops as a deficiency of the coagulation protein factor IX. It requires a female carrier-state and is also a recessive gene-based disease. Similar symptoms apply to hemophilia B, and treatment consists of infusions of factor IX concentrates. The difference is dosing of factor IX requires twice the amount as required for factor VIII. Factor IX effects don't last long and additional doses are required when surgical procedures are necessary. There is also a risk of blood clots with recurrent use.
Von Willebrand Disease
Von Willebrand disease, a congenital bleeding disorder similar to hemophilia A, develops as a result of a problem with factor VIII in which von Willebrand factor, also called the risocetin co-factor, is deficient. The von Willebrand co-factor aids the blood cells that manage bleeding, called platelets, to collect in injured vessels to form a clot. When the co-factor is missing, bleeding is prolonged. This bleeding disorder is usually mild and no treatment is necessary except avoiding aspirin. If treatment is necessary, the use of factor VIII concentrate is effective.
Human Immunodeficiency Virus
Hemophiliacs who received treatment with factor concentrates from the 1980s frequently test positive for HIV and numerous individuals have converted to the terminal stage of the virus, AIDS. The consequences of the virus on the immune system might affect the platelets increasing problems with bleeding.
References
- Science Cases; Hemophilia: "The Royal Disease"; Yelena Aronova-Tiuntseva and Clyde Freeman Herreid; Sept. 20, 2003
- "Current Medical Diagnosis & Treatment"; Charles A. Linker; 2008
- Children's Hospital of Wisconsin: Hemophilia
- Genetics Homes Reference: What is Hemophilia?
