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Hemophilia is a hereditary disease that interferes with the body's ability to make the clotting factors that stop bleeding. Primarily a disease that is passed from mother to son, hemophilia is usually a condition in which a male's X-chromosome doesn't have a gene for making a clotting factor essential for forming fibrin to stanch the flow of blood after an injury to a blood vessel.
Women, who have two X chromosomes, typically have at least one X chromosome that has a copy of the gene needed to encode the protein, and are almost always (unless they have both a mother who carries the disease and a father who has the disease) immune to the disease.
Hemophilia in History
Hemophilia has shaped history. Britain's Queen Victoria, who is an ancestor to almost all the royalty of Europe, carried the disease and passed it on to her sons. Her granddaughter Victoria Eugenie, who later became a Queen of Spain, bore two sons born with the disease who later died of bleeding after accidents.
Queen Victoria's granddaughter Alexandra, the last Empress of Russia, bore a son, Nicholas II, who according legend received treatment from the mysterious figure Rasputin, famous for his role in the Bolshevik Revolution. But as you can see in the five personal stories we'll share in a moment, hemophilia is no longer a "royal" disease.
No Longer a Death Sentence
Hemophilia was once a death sentence, the average life expectancy for people born with the condition being only 11 years. With the use of blood-derived clotting factors, however, since 1980 most people who have hemophilia can now expect to enjoy an almost-normal lifespan. Living with hemophilia, however, is not yet normal. People who live with hemophilia will face special challenges throughout their lives. Here are five stories of five hemophiliacs who live courageously and well with the disease.
The Val Bias Story
Val Bias, now in his 50's, is president of the National Hemophila Foundation. Coming out of the womb with a purple knot on his head, Bias had two older brothers who died of the disease and two more brothers who are unaffected. Bias has the more severe form of the disease, called hemophilia B, in which there is essentially no ability for the body to make clotting factor IX and even slight injuries result in severe bleeding.
Bias, who is an African American, points out that hemophilia strikes people of all races, and that even women and girls can come down with the disease. Hemophilia indeed runs in families, but a third of all cases appear in families with no history of the disease.
Even though hemophilia is a difficult disease, Bias told Karen Barrow of the New York Times, it is important to point out that having hemophilia doesn't mean you can't ever have fun. Unable to ride the subway and suffering severe joint pain, Bias still is an avid river rafter.
- Barrow, K. Changed, But Not Defined, by Hemophilia. New York Times, 30 January 2012.
- Holstein K, Marx G, Lentz B, Bokemeyer C, Langer F. Successful eradication of a FVIII inhibitor in a 60-year-old patient with mild haemophilia A using single-agent prednisolone. Hamostaseologie. 2012. 32 Suppl 1:S48-51.