|Nov. 27, 2006 - USA Today
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Q. What is hemophilia and how many people have it?
A. It is a bleeding disorder that results from a deficiency in a substance that allows the blood to coagulate or clot. It affects one in every 5,000 male babies born in this country, but occurs in women only rarely. There are about 17,000 people with hemophilia in the USA, according to the National Hemophilia Foundation.
Q. How do you get it?
A. About a third of cases occur in people who have no family history of hemophilia, usually as a result of a genetic mutation. In most cases, it is inherited from the mother, caused by a defective gene on the X chromosome. Women have two X chromosomes and men have an X and a Y chromosome. Possibilities:
A mother contributes an X chromosome with the defective gene and the father contributes a Y chromosome. Their child is a boy born with hemophilia.
A mother contributes an X chromosome with the defective gene and the father contributes an X chromosome without the defect. Their child is a girl who is a carrier — she doesn't have hemophilia, but can pass it to her own sons.
Because it's the father's X chromosome that determines a baby will be a girl, all the daughers of a man with hemophilia will be carriers, but none of his sons will. A woman who is a carrier has a 25% chance with each pregnancy of having a boy with hemophilia (and an equal chance of having a boy without it, a girl who is a carrier or a girl who is not a carrier.)
Rarely, a girl is born with hemophilia, usually when the father has the disorder and the mother is a carrier.
Q. Is a small cut life-threatening for someone with hemophilia?
A. People with hemophilia usually have no problem with small cuts and bruises, but may have trouble with surgery or injuries and may have spontaneous bleeding, usually into joints or muscles.
Q. Does a person with hemophilia bleed faster than people who don't have it?
A. No. They don't bleed harder or faster, but they may bleed longer.
Q. Can it be cured?
A. No cure has been found yet, but gene therapy, in which the missing clotting factor is inserted into the cells of the person with hemophilia, holds promise in reducing the severity of the disease.
Q. How is it treated?
A. Replacing the missing clotting factor is the usual treatment, and in severe hemophilia, infusions of clotting factor are done regularly two or three times a week to prevent serious bleeding episodes. Clotting factor is given through a needle, often self-administered.
Q. How common is epilepsy among people who have hemophilia?
A. That is not known. In May, 2006, a task force of the National Hemophilia Foundation reported in the journal Hemophilia that 2% — 8% of people with hemophilia experience bleeding in the head, and about half of those occur in newborns. This bleeding can cause death or long-term health effects including cerebral palsy and seizure disorders.
Q. Can people with hemophilia play sports or do other normal activites?
A. Yes, exercise is especially important because it builds muscle and protects the joints. Swimming, bowling, bike-riding, tennis and golf are recommended, but contact sports such as football, hockey and wrestling are not.
Q. How can someone with hemophilia undergo brain surgery, or any other major surgery?
A. They are given infusions of the missing clotting factor, but, says Alan Kinniburgh, CEO of the National Hemophilia Foundation, "it's a delicate balance." Too much can cause formations of life-threatening blood clots; too little can cause severe bleeding. A hemotologist familiar with bleeding disorders should work with the surgeon, says Neil Frick, vice president for research and medical information: "People have to have levels of factor (administered) before, during and after surgery, and while in the operating room, they continually have to be infused."