We understand how overwhelming a diagnosis of hemophilia can be. Right now, you probably have a lot of questions. How dangerous is this condition? What is the very best treatment? What do we do next?
We’ve tried to provide some answers to those questions in the following pages, and the experts at Boston Children's Hospital can explain your child’s condition fully when you meet with us.
What is hemophilia?
Normal blood contains a number of different proteins, called “factors,” that help form clots and stop bleeding. Two of these important proteins are factor VIII and factor IX. A child with hemophilia is missing, or has a low level of, one of these factors.
Hemophilia can be mild, moderate or severe, depending on the level of blood clotting factors in your child’s blood. Generally, children affected with hemophilia have factor levels below 30 percent of normal. Those with severe hemophilia have levels of less than 1 percent.
What are the different types of bleeding disorders?
There are a number of different types of bleeding disorders. Your child’s physician will determine which specific type of bleeding disorder your child has.
Types of bleeding disorders include:
- It’s caused by an abnormally low level of factor VIII (factor 8).
- About 80 percent of hemophiliacs have it.
- It’s caused by an abnormally low level of factor IX (factor 9).
Von Willebrand’s disease:
- It’s caused by a low level of von Willebrand factor, which works together with factor VIII (factor 8).
- It’s the most common bleeding disorder, affecting 1 to 2 percent of people in the United States.
- Most patients don’t have any symptoms.
What causes hemophilia?
Types A and B:
Hemophilia A and B are inherited disorders passed from mother to child through the X-chromosome. As a result, boys develop hemophilia, while girls are generally carriers of the hemophilia gene. About one-third of children with hemophilia have no family history of the disease. In these cases, it’s believed that their hemophilia is related to a new genetic mutation.
Carrying the hemophilia gene:
Girls who carry the hemophilia gene may have normal or low levels of clotting factors in their blood. “Carriers” can experience:
- bruising easily
- increased bleeding with surgeries and dental work
- frequent nosebleeds
- excessive menstrual bleeding
- bleeding during childbirth
Von Willebrand’s disease:
Von Willebrand’s disease is an inherited disorder passed from parent to child through a different gene from hemophilia. Boys and girls have an equal chance of developing von Willebrand’s disease.
In general, the symptoms of von Willebrand’s disease are mild and often treatment is not necessary.
Are bleeding disorders common?
Each year, about 400 children are born with hemophilia. Currently, there are about 18,000 people living with the disease in the United States.
Von Willebrand’s disease is much more common. It’s estimated that it may affect as much as 1 to 2 percent of the population.
What are the symptoms of hemophilia?
Your child may experience different symptoms depending on the type and severity of the bleeding disorder. The most common symptom of hemophilia is excessive, uncontrollable bleeding. Children with hemophilia, or “hemophiliacs,” don’t bleed faster than normal; they bleed for a longer time because their blood clots slowly.
In addition to prolonged bleeding, your child may experience other symptoms including:
- occurs from small accidents and can result in large hematomas (collection of blood under the skin causing swelling)
- can occur spontaneously in cases of severe hemophilia
- tendency to bleed from the nose, mouth and gums with minor trauma, teeth brushing and/or dental work
Bleeding into a joint:
- most common site of complications due to hemophilia bleeding
- causes pain and immobility
- can lead to chronic, painful arthritis and deformity with repeated occurrences if not properly treated
- can ultimately result in the need for physical therapy or joint replacement
Bleeding into the muscles:
- causes swelling and pain
- rarely, swelling from excessive blood in these areas can cause increased pressure on tissues and nerves in the area, resulting in permanent damage and/or deformity
Bleeding from injury or bleeding in the brain (in severe hemophilia):
- most serious bleeding complication and most common cause of death in children with hemophilia
- can occur from even a small bump on the head or a fall
- can lead to death if not recognized and treated immediately
Other sources of bleeding:
- blood found in the urine or stool
Q: How serious is my child’s hemophilia?
A: Hemophilia can be mild, moderate or severe, depending on the level of blood clotting factors in your child’s blood. Your child’s doctor will be sure to discuss your child’s diagnosis in depth with you.
Q: Can hemophilia be cured?
A: Hemophilia is a life-long disease, but significant advances in prevention of bleeding episodes and treatment means that today those with hemophilia suffer from fewer symptoms.
Q. If I carry the gene for hemophilia, does that mean that my child will have it?
A: A mother who is a carrier of the hemophilia gene has a 50 percent chance of passing the gene on to her baby.
- If the mother passes the gene onto a son, he will have hemophilia.
- If she passes it onto a daughter, she will be a carrier.
- If a father has hemophilia but the mother does not carry the gene, none of his sons will have it, but all of his daughters will be carriers.
Genetic tests are available to determine if your child is a carrier.
Questions to ask your child’s doctor
After your child is diagnosed with hemophilia, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you. Lots of parents find it helpful to jot down questions as they arise—that way, when you talk to your child’s doctors, you can be sure that all of your concerns are addressed.
If your child is old enough, you may want to suggest that she write down what she wants to ask her health care provider, too.
Some of the questions you may want to ask include:
- What specific type of hemophilia or bleeding disorder does my child have?
- What symptoms might my child experience?
- How will my child’s symptoms be managed?
- Will my child need transfusions or factor replacement therapy?
- What are the potential complications? How can I help my child avoid them and recognize them if they do occur?
- How often will my child need to come in for follow-up care?
- How can I make my child safer? What kinds of things can I do to make my home safer for a child with hemophilia?
- Can my child play sports?
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