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On this World Hemophilia Day, we share the stories of five people who live with hemophilia, the struggles, and their triumphs over this ancient, debilitating disease.

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 being only 11 years. With the use of blood-derived clotting factors, however, since 1980 most people who have hemophilia can now expect to lead an almost-normal lifespan. Living with hemophilia, however, is not yet normal. 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 died of the disease and two more brothers who are unaffected. Bias has the more severe form of the disease, 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 runs in families, but 1/3 of all cases appear in families with no history of the disease.

Since hemophiliacs have to be given blood products on a weekly basis and the blood supply has not always been tested for viral conditions, it's both possible and common for hemophiliacs to contract hepatitis B, hepatitis C, and HIV, and Bias has contracted all three. After treatment, Bias no longer has hepatitis B.

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.

Four More Personal Stories Of Hemophilia

Older hemophiliacs often have an opportunity to help their doctors learn how to treat the disease. One such hemophiliac was a sixty-year-old German man who prefers to be identified as Klaus.

Teaching Doctors How to Treat Hemophilia

Sixty-year-old "Klaus," a lifelong resident of Hamburg, Germany, had been diagnosed with hemophilia in 1957. Klaus had the milder form of the disease, hemophilia A, in which the body retains the ability to make small amounts of some of the clotting factors and bleeding usually is not severe. Klaus only received blood products when doctors knew bleeding was likely.

Before a routine colonoscopy, Klaus received anti-bleeding product known as FVIII, or Factor 8. Two weeks later, he fell and bruised his hip, so he got another injection of FVIII. Another two weeks later, however, Klaus started bleeding spontaenously from his bowel. Klaus, as sometimes happens in older hemophiliacs, had developed resistance to the drug used to treat him.

What Klaus did that was different was to ask his doctors to try a combination therapy, steroids (prednisolone) plus more of the anti-clotting factor. Although steroids also have serious side effects, the combination worked, and steroid drugs are becoming increasingly accepted as part of the necessary treatment of hemophilia in older persons.

The Challenges of Being a Woman with Hemophilia

Karen, not her real name, is one of the 5 to 10% of hemophiliacs who are women. Karen's symptoms did not appear at birth, or in childhood, but became quite severe when she had her first period. Karen had not just normal menstrual bleeding but gushes of blood that made normal activites impossible. Her periods sometimes last 7 days or more, and, she reports, it was necessary to change pads every two hours for up to a week.

Karen was one of the first women to take the birth control pill Lybrel, advertised for its ability to limit a woman's period to once a year. Although she had some success in stopping her periods with other brands of the Pill, Karen reports that for the first time in her life she is free of one of the most difficult problems in daily life for women of reproductive age who have hemophilia.

A Christmas Baby Born with Christmas Disease

Now six years old, Scott was a Christmas Day surprise (probably moreso because his parents are Jewish), born on December 25. The parents were concerned, however, when the heel stick to test Scott's blood for phenylketonuria (PKU) bled an unusually long time. When Scott was circumcised eight days later, the rabbi was unable to stop the bleeding, and after a trip to the emergency room, Scott's parents were told that he had an especially severe form of hemophilia B also known as Christmas disease.

Fortunately, Scott was born in the twenty-first century, when treatments for Christmas disease are readily available. Scott's parents have been diligent about his weekly treatment, but Scott has had a happy and otherwise healthy childhood without drama or complications. Scott's life isn't "normal," since he can't participate in rough and tumble children's activities, but at just the age of six he has gone to Hemophilia Camp and learned how to infuse himself with the medications he needs each week to survive.

A Cop with Hemophilia

The New York Times also reported the story of John Vieke (his real name) of Anderson, Indiana, a hemophiliac who decided to go into law enforcement  because people told him he couldn't and, as he told the New York Times, "I didn't want to be the guy with hemophilia who played it safe."

Vieke says his success in life has been the result of taking swift action to prevent complications. As a child, his parents always made sure that cuts and scrapes and bruises were treated quickly, and as an adult, Vieke has avoided joint damage and joint pain.

"If you treat it early," Vieke says, "you can prevent the bleeding in the joints from damaging the tissues in the joints. So now, going into my adulthood, I don't many of the problems many hemophiliacs have with their joints."

Read full article

  • 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.

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