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Q. What is hemophilia?
A. Hemophilia is an inherited disorder in which one of the proteins needed to form blood clots is missing or reduced. There can also be a spontaneous mutation whereby there is no family history of the disorder. The most common type of hemophilia, is factor VIII (8) deficiency, also called hemophilia A or classic hemophilia. The second most common type is factor IX (9) deficiency, also called hemophilia B or Christmas disease (named for Stephen Christmas, the first person diagnosed with factor IX deficiency).

Q. What are the symptoms of hemophilia?
A. When a person with hemophilia is injured, he does not bleed harder or faster than a person without hemophilia, he bleeds longer. Small cuts or surface bruises are usually not a problem, but more traumatic injuries may result in serious problems and potential disability (called "bleeding episodes").

There are different levels of hemophilia: mild, moderate, and severe:

People with mild hemophilia (6% to 49% factor level) usually have problems with bleeding only after serious injury, trauma, or surgery. In many cases, mild hemophilia is not discovered until an injury or surgery or tooth extraction results in unusual bleeding. The first episode may not occur until adulthood. The NHF publication Mild Hemophilia explains symptoms and treatment for those with infrequent problems.

People with moderate hemophilia, about 15% of the hemophilia population, tend to have bleeding episodes after injuries. They may also experience occasional bleeding episodes without obvious cause. These are called "spontaneous bleeding episodes."

People with severe hemophilia, about 60% of the hemophilia population, have bleeding following an injury and may have frequent spontaneous bleeding episodes, often into the joints and muscles.

Q. How common is hemophilia?
A. Approximately one in 5,000 males born in the United States has hemophilia. All races and economic groups are affected equally.

Q. What causes hemophilia?
A. Everyone inherits two sex chromosomes, X and Y, from his or her parents. A female inherits one X chromosome from her mother and one X chromosome from her father (XX). A male inherits one X chromosome from his mother and one Y chromosome from his father (XY). The gene that causes hemophilia is located on the X chromosome.

If a mother contributes an X chromosome with the gene for hemophilia, and the father contributes a Y chromosome, their child will be a boy born with hemophilia.

If a mother contributes an X chromosome with the gene for hemophilia, and the father contributes an X chromosome without the gene for hemophilia, their child will be a girl who is called a "carrier." She will not have hemophilia, but she can pass it on to her male children.

A woman who gives birth to a child with hemophilia often has other male relatives who also have hemophilia. Sometimes, a baby will be born with hemophilia when there is no known family history. This means either that the gene has been "hidden" (that is, passed down through several generations of female carriers without affecting any male members of the family) or the change in the X chromosome is new (a "spontaneous mutation"). This occurs in approximately one-third of the cases of hemophilia.

It is very rare for a girl to be born with hemophilia, but it can happen if the father has hemophilia and the mother is a carrier or if there are two spontaneous mutations. For more information about women with bleeding disorders, see the NHF publication, "A Guide for Women and Girls with Bleeding Disorders." More information about the causes of hemophilia is available in the NHF brochure, "Inheritance of Hemophilia."

Q. If we have more children, will they also have hemophilia?
A. There's a chance one or more of them will. There are four possible outcomes for the baby of a woman who is a carrier (that is, who has one X chromosome without the hemophilia gene and one X chromosome with the hemophilia gene) assuming the father does not have hemophilia. These four possibilities are repeated for each and every pregnancy:
1. A girl who is not a carrier
2. A girl who is a carrier
3. A boy without hemophilia
4. A boy with hemophilia

With each pregnancy, a woman who is a carrier has a 25% chance of having a son with hemophilia.

Because the father's X chromosome determines the baby will be a girl, all the daughters of a man with hemophilia will be carriers. None of his sons, which is determined by the father through his Y chromosome, will have hemophilia. To receive more information about carrier status and tests that are performed call NHF and request the publication, "Inheritance of Hemophilia."

Genetic counseling is available at most HTCs. These professionals have information to help you make family planning decisions.

If you have one child diagnosed with hemophilia, and you are expecting another child, it is important for your obstetrician to know that you are at risk for having another child with hemophilia. Also, some carriers may have lower than normal blood clotting activity. A hematologist (doctor who specializes in disorders of the blood) can talk with your obstetrician or midwife to plan for a safe delivery. Some families with a history of hemophilia request prenatal (before birth) testing to see if the fetus is affected. This testing can be done early in the pregnancy, allowing the family to plan for a high-risk delivery or to choose to end the pregnancy.

If you do not want prenatal testing, arrange for blood to be drawn from the baby as soon as possible after birth. Tests to check for hemophilia can be run on blood from the umbilical cord. The tests will tell whether the baby has hemophilia; it does not test for the level of hemophilia (mild, moderate, or severe). You will be advised to delay some procedures, such as circumcision, until after you learn whether your son has hemophilia.

Q. Can hemophilia be cured?
A. Not yet, but new developments may make a cure possible in the next five to ten years. Technically, hemophilia can be cured through a liver transplant but the risks involved in the surgery and the requirement for lifelong medications to prevent rejection of the new liver may outweigh the benefits. Researchers are working on a way to insert factor VIII or factor IX genes into the cells of people with hemophilia so their blood will clot more effectively. People treated with this gene therapy would have few or no bleeding episodes. Put simply, gene therapy has the promise to make the hemophilia more mild. Gene therapy does not correct the affected factor VIII gene on the male's chromosome. Therefore, all the daughters of a man with hemophilia even if he one day is treated with gene therapy, will still be carriers.

As of the date of this publication, some types of gene therapy are being tested in humans, but they are not available for general use. For more information, call NHF's toll free information number (1-800-42-HANDI) for a packet of information about gene therapy for hemophilia.


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