Information From Your Health Care Provider

HEMOPHILIA

Basic information

description

Hemophilia is an inherited bleeding disorder. The two main types of hemophilia occur only in boys and it affects about 1 in 14,000 males. The disorder is passed via a gene from mother to son. Most mothers who pass the gene on are carriers of hemophilia and have no symptoms of it.

FREQUENT SIGNS & SYMPTOMS

Symptoms often don't occur until the baby starts to crawl or walk. Sometimes, a circumcision procedure causes excess bleeding and is the first symptom.
Painful, swollen joints, or swelling in the leg or arm when bleeding occurs.
Bruising (bruises may be large, deep, or slow to heal).
Heavy bleeding from small cuts.
Nosebleeds.
Blood in the urine or stool.

causes

Lack of a blood-clotting (coagulation) factor. Clotting is the process by which blood changes from a liquid to a solid substance in order to stop bleeding. There are 13 clotting factors in the body. Hemophilia occurs in three of them. Hemophilia A lacks enough clotting factor VIII. Hemophilia B lacks enough clotting factor IX. Hemophilia C (rare in the United States) lacks enough clotting factor XI.

risk increases with

Family history of the disorder.

PREVENTIVE MEASURES

Cannot be prevented at present. If your family has a history of this disorder, get genetic counseling before having children. If you are pregnant, talk to your obstetric provider about testing to see if the baby has inherited hemophilia.
Testing for a female to check her hemophilia carrier status is done with a blood study. Blood studies of other family members are usually needed also.

expected outcomes

The disorder is not curable, but it is not fatal. With treatment, patients can have a near-normal life span.
The disorder may be mild, moderate, or severe. It depends on amount of the clotting factor produced.
Studies looking into causes and treatment continues. There is some hope for better treatment and/or a cure.

possible complications

Bleeding events needing emergency treatment.
Joint damage and problems caused by bleeding.
Adverse reaction to clotting-factor treatment.
Risk of getting other diseases through donated blood. Risk is less with genetically produced clotting products.

diagnosis & treatment

general measures

Your child's health care provider will do a physical exam and ask questions about the symptoms and activities. Blood tests can diagnose blood-clotting problems.
Family education about the disorder is the first step. Parents need to learn how to recognize signs and symptoms of bleeding and how to provide therapy. They need to learn ways to keep a child safe and appropriate physical activities. Vaccines need to be current.
Parents need to make sure that anyone (sitters, relatives, teachers) who takes care of a child with hemophilia knows what to do in an emergency.
Practice good dental hygiene. This helps avoid problems that can cause bleeding, such as pulling a tooth.
Hospital care to control bleeding may be needed when the bleeding is heavy or unusual.
A person should wear a medical alert type of identification showing that they have hemophilia.
To learn more: National Hemophilia Foundation, 116 West 32nd St., 11th Floor, New York, NY 10001; (800) 424-2634; website: www.hemophilia.org.

medications

Bleeding can be controlled by injections of clotting factor. It can be taken as a preventive measure. Patients can be trained to give themselves the treatment.
Desmopressin (DDAVP) may be injected into veins or given as a nasal drug. It can help to stimulate a release of the body's own clotting factor.
Drugs to reduce joint pain may be prescribed.
Avoid aspirin and other nonsteroidal anti-inflammatory drugs. They can increase bleeding.

activity

Exercise daily. Avoid activities that can cause injury, such as contact sports. Swim, bicycle, or walk instead.