Hemophilia In Children
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GENERAL INFORMATION:
What is hemophilia?
- Hemophilia (he-mo-FIL-e-ah) is a rare bleeding disorder caused by a problem in the blood's ability to form a clot. It is an inherited condition that is present at birth and usually occurs only in boys. Normally, blood cells and substances form clots and stop your child's body from bleeding. These include platelets, clotting factors, vitamin K, and fibrinogen. Clotting factors are proteins made by cells that line the blood vessel walls. Platelets are a type of blood cell made in the bone marrow that help blood to form a blood clot. When a blood vessel is injured, the blood cells and substances stick to the cut area and form a clot. The clot acts as a plug to stop the bleeding and covers the blood vessel injury while it heals. Blood clots normally form after a blood vessel injury, such as a cut or during a nosebleed.
- There are two types of inherited hemophilia, type A and type B. Hemophilia A is much more common than hemophilia B. With hemophilia A, clotting factor VIII (eight) is lower than normal. With hemophilia B, clotting factor IX (nine) is lower than normal. When your child has hemophilia, his body makes little or none of the specific clotting factor. Without the clotting factor, platelets may not be able to keep the clot in the damaged blood vessel. This will cause your child to keep bleeding from the injured blood vessel. Your child's blood will take a longer time to clot and wounds will take longer to heal.
What causes hemophilia?
- Hemophilia is a sex chromosome disorder that affects the X chromosome. The sex chromosomes determine whether your child is a boy or a girl. Boys have one X and one Y chromosome, while girls have two X chromosomes. With hemophilia, there is an abnormal gene on the X chromosome. Genes are little pieces of information that tell the body what to do or what to make. Chromosomes are like packages in the body that hold the genes. The abnormal gene on the X chromosome is passed down by a parent to the child. This can happen with several generations affected and the family is aware of the bleeding problem. For some families, the abnormal gene is a new genetic change that they did not get from a parent. This is called having a spontaneous mutation.
- The abnormal hemophilia gene affects boys because they have only one X chromosome. Girls, by having two X chromosomes, are protected by the X chromosome that has a normal version of the gene. Girls with the hemophilia gene are usually carriers or only mildly affected. A carrier is someone who has the gene that causes hemophilia but does not show signs or symptoms of it. A boy born to a mother who is a carrier has a 50 percent chance of having hemophilia. All girls with fathers who have hemophilia will be carriers.
What are the levels of hemophilia? There are three levels of hemophilia. These are based on the amount of clotting factor or the kind of bleeding episodes your child has. A bleeding episode is bleeding that is prolonged, usually lasting more than several minutes. Bleeding episodes can occur with or without injury. A bleeding episode that happens without an injury is called a spontaneous bleeding episode.
- Mild: Your child has some clotting factor activity in his blood. He may have severe (very bad) bleeding only after a major surgery or serious injury. Your child's hemophilia may not be discovered until he has a tooth pulled, or has surgery or a bad injury.
- Moderate: Your child has little clotting factor activity in his blood. He likely will have severe bleeding when he has an injury or surgery. He may also have episodes of spontaneous bleeding that occur suddenly.
- Severe: Your child has very little clotting factor activity in his blood. He will have bleeding following an injury. He may also have frequent spontaneous bleeding, usually into his joints and muscles.
What are the signs and symptoms of hemophilia? Bleeding can occur anywhere in your child's body. It may happen in places you can see, such as the nose or mouth. It can also happen inside his body and may cause pain, swelling, and bruising. The following signs and symptoms may be present in any of the levels of hemophilia:
- Frequent bruising.
- Frequent nose bleeds or bleeding gums.
- Pain and swelling in joints or muscles.
- Prolonged bleeding or oozing of blood from injuries, surgical incisions (cuts), or a pulled tooth site.
- Stools (bowel movements) that are dark or black.
- Urine that is pinkish or reddish in color.
What problems can hemophilia cause? Your child can bleed easily when injured and have bleeding episodes. Bleeding often occurs in the mouth, nose, muscles, and joints. Your child can have repeated episodes of bleeding in his joints that cause joint pain and swelling. Over time, this can lead to your child getting arthritis with decreased function and chronic pain in the injured joints. Your child may have an episode where he loses a lot of blood with a bleeding episode and needs a transfusion or surgery. Bleeding into the brain, abdomen (belly), chest, neck, or throat can be life-threatening.
How is hemophilia diagnosed?
- Your caregiver will ask about your child's past and present health history. He will want to know the details of your child's bleeding episodes. Your caregiver will need to know if family members have hemophilia or other bleeding problems. A sample of your child's blood will be taken for different tests. The caregiver will check for how well your child's platelets and other clotting factors work. Blood tests may need to be repeated often since the levels of your child's clotting factors can change over time.
- You may go to caregivers for genetic counseling if you have hemophilia in your family and plan to have a baby. This will help you find out whether you carry the gene for hemophilia. It can also help you understand your chances of passing the condition to your baby. If you are already pregnant, hemophilia can be diagnosed before your baby is born. During pregnancy, caregivers may do tests to check for problems while your baby is still in the womb. A sample from your baby's tissues may be collected and sent to lab for tests. After your baby is born, a sample of his cord blood can be tested to check his clotting ability and hemophilia status.
How is hemophilia treated? There is no cure for hemophilia. Treatment is done to stop or prevent bleeding. Your child may need surgery or rehabilitation to treat other problems if his hemophilia gets worse. Your child's treatment may include one or more of the following:
- First aid: The first treatment for any bleeding episode is called RICE. You and anyone else who cares for your child must know how to do all of these if your child starts bleeding. If these measures do not stop the bleeding, other treatments will be needed. Prompt use of RICE may reduce the amount of bleeding and decrease the pain that goes with it.
- R = Rest: Have your child sit or lie quietly until the bleeding episode ends.
- I = Ice: Apply an icepack to the bleeding area. Do not apply ice directly to the skin. A package of frozen peas or other small vegetables in a thin towel can be used instead of an ice pack.
- C = Compression: Apply pressure to the bleeding site. A bleeding joint can be wrapped with an elastic compression bandage such as an ace bandage. Ask your caregiver for more information about elastic bandages.
- E = Elevate: Position your child so the bleeding area of his body is raised. Raise the area above the level of his heart if possible.
- R = Rest: Have your child sit or lie quietly until the bleeding episode ends.
- IV access: Your child may need a central venous line (CVL) device. This is needed if an intravenous (IV) catheter (plastic tube) or needle cannot be easily placed in a vein in his hand, arm, or foot. This may also be done if he needs frequent IV infusions of blood products such as clotting factor. These IV access devices are surgically placed into a large vein, usually in the upper chest. Your child may have a CVL, also called a broviac line, that is partially under his skin. He may have an implanted port, which is completely under his skin. Ask your caregiver for more information about these CVL devices.
- Medicines:
- Antifibrinolytic proteins: These are also known as local blood clotting agents. They help protect clots and hold them in place. They may be used to stop bleeding in the mouth, nose, or abdomen.
- Desmopressin: This medicine may be used to treat hemophilia A. It works by increasing the amount of clotting factor VIII in your child's blood.
- Antifibrinolytic proteins: These are also known as local blood clotting agents. They help protect clots and hold them in place. They may be used to stop bleeding in the mouth, nose, or abdomen.
- Rehabilitation: Physical activities and sports will help build strong muscles to protect your child's joints. Ask your child's caregiver which exercises and sports your child can do safely.
- Replacement therapy: Certain blood products, called factor concentrates, may be given to your child. They replace the missing clotting factor in your child's blood. Replacement clotting factor is given so that your child's blood will be able to clot and to stop any bleeding. Clotting factor can come from human blood or be man-made. You may be taught how to give clotting factor to your child at home.
- Demand therapy: This is when your child receives clotting factor to stop a bleeding episode.
- Preventive therapy: Preventive or prophylaxis (PRO-fi-lak-sis) therapy is treatment given to prevent future bleeding episodes. This therapy is often used for the goal of preventing injury to your child's joints. Your child may be started on prophylaxis therapy as early as 1 to 2 years of age, or after one or more joint bleeds.
- Demand therapy: This is when your child receives clotting factor to stop a bleeding episode.
- Surgery: Surgery may be done to repair any damage caused by bleeding into joints. Ask your caregiver about what kind of surgery your child may need.
When should I call my child's caregiver?
- You or your child cannot make it to his next appointment with his caregiver.
- Your child feels very tired and weak.
- Your child has chills or a fever.
- Your child has nausea (upset stomach), vomiting (throwing up), or a severe (very bad) headache.
- You have questions or concerns about your child's disease, care, or medicine.
When should I seek immediate help?
- Your child has a head injury or a seizure (convulsion).
- Your child has bleeding from a throat, neck, or eye injury, or has bleeding episodes that cannot be controlled.
- Your child has chest pain or trouble breathing.
- Your child has many large bruises on his body, or swelling in his joints.
- Your child has joint pain that lasts longer than three days.
- Your child has severe hemophilia and has pain in the lower part of his stomach, groin or lower back.
- Your child is vomiting (throwing up) blood or has blood in his stool (bowel movement).
Where can I find support and more information? Having a child with hemophilia is life-changing for you, your child and your family. Accepting that your child has hemophilia may be hard. You, your child, and those close to him may feel confused, angry, sad, afraid, or helpless. As a parent, you may blame yourself and think you have done something wrong. These are normal feelings. Talk to your child's caregivers, family, or friends about your feelings. You may also want your child to join a bleeding disorder support group. This is a group of people who have bleeding problems. Contact the following for more information:
- National Hemophilia Foundation
116 W. 32nd. St., 11th floor
New York, NY 10001
Phone: 1-212-328-3700
Web Address: www.hemophilia.org
- National Heart, Lung and Blood Institute
Health Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Phone: 1-301-592-8573
Web Address: http://www.nhlbi.nih.gov/health/infoctr/index.htm
- CDC National Center on Birth Defects & Developmental Disabilities, Blood Disorders
1600 Clifton Rd
Atlanta, GA 30333
Phone: 1-800-232-4636
Web Address: http://www.cdc.gov/ncbddd/hbd/default.htm
CARE AGREEMENT:
You have the right to help plan your child's care. To help with this plan, you must learn about your child's health condition and how it may be treated. You can then discuss treatment options with your child's caregivers. Work with them to decide what care may be used to treat your child.
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