Children's National's experienced hematologists treat more than 200 patients with forms of Hemophilia annually in the Comprehensive Hemophilia and Thrombosis Center.
The Patient and Family Support Program provides comprehensive mental health and psychosocial services and helpful resources for all patients treated in the Center for Cancer and Blood Disorders, as well as patients, parents and siblings.
What is hemophilia?
Hemophilia is an inherited bleeding disorder that affects approximately 17,000 people in the United States. Children with hemophilia lack the ability to stop bleeding because of the low levels, or complete absence, of specific proteins (called “factors”) in their blood that are necessary for clotting. Proper clotting of blood helps prevent excessive bleeding.
Types of hemophilia
Two of the many factors in the blood that affect clotting are factor VIII and factor IX. Hemophilia may be classified as mild, moderate, or severe, depending upon the level of the clotting factors in the blood.
The two main forms of hemophilia are:
- Hemophilia A, which is caused by a lack of clotting factor VIII. Approximately 85 percent of hemophiliacs have type A disease.
- Hemophilia B, which is caused by a deficiency of factor IX.
What are the causes of hemophilia?
Hemophilia types A and B are inherited diseases passed on to children from a gene located on the X chromosome. Females have two X chromosomes, and males have one X and one Y chromosome. A female carrier of hemophilia has the hemophilia gene on one of her X chromosomes.
When a female hemophilia carrier is pregnant, there is a 50/50 chance that the hemophilia gene will be passed on. If the gene is passed on to a son, he will have the disease. If the gene is passed on to a daughter, she will be a carrier. If the father has hemophilia but the mother does not carry the hemophilia gene, then none of the sons will have hemophilia disease, but all of the daughters will be carriers.
In approximately one-third of the children with hemophilia, there is no family history of the disorder. It is believed that, in these cases, the disorder could be related to a new gene mutation. Tests are available for possible carriers to help determine whether or not they, in fact, carry the abnormal gene.
Carriers of the hemophilia gene usually have normal levels of clotting factors but may bruise easily, bleed more with surgeries and dental work, and/or have frequent nosebleeds or excessive menstrual bleeding.
What are the symptoms of hemophilia?
Because hemophilia is a bleeding disorder, the most common symptom is excessive, uncontrollable bleeding. Hemophiliacs do not bleed faster than normal children, but they bleed for a longer time. The severity of hemophilia is determined by the amount of clotting factors in the blood.
Mild cases of hemophilia occur when people have 10 percent of normal clotting factors levels. In these cases, people experience bleeding only with major surgeries or tooth extractions. These children may not even be diagnosed until bleeding complications from a surgery occur.
Severe hemophilia occurs when levels of factor VIII or IX are less than 1 percent of normal levels. Bleeding can occur with these children from minimal activity associated with daily life and also can occur from no known injury. Bleeding most often occurs in the joints and in the head.
Other symptoms of hemophilia include:
- Bruising can occur from small accidents, which can result in a large hematoma (a collection of blood under the skin that causes swelling). For this reason, most diagnoses are made at 12 to 18 months of age, when the child is becoming more active.
- Bleeding easily from the nose, mouth and gums due to minor trauma, teeth brushing, and/or dental work.
- Bleeding into a joint, called hemarthrosis, can cause pain, immobility, and eventually deformity if not medically managed properly. This is the most common cause of complications due to hemophilia bleeding. Repeated joint bleeds can lead to chronic and painful arthritis, deformity and crippling.
- Bleeding into the muscles can cause swelling, pain, and redness. Swelling from excessive blood in these areas can increase pressure on tissues and nerves in the area, resulting in permanent damage and/or deformity.
- Bleeding from injury or bleeding in the brain is the most common cause of death in children with hemophilia and the most serious bleeding complication. A brain hemorrhage can occur from even a small bump on the head or a fall. Small bleeds in the brain can result in blindness, mental retardation, and a variety of neurological deficits, and they can lead to death if not recognized and treated immediately.
- Other sources of bleeding, such as blood found in the urine or stool also may be a symptom of hemophilia.
The symptoms of hemophilia can resemble other blood disorders or medical problems. Always consult your child’s physician for a diagnosis.
How is hemophilia diagnosed?
In addition to a complete medical history and physical examination, diagnosing hemophilia may include:
- Clotting factor levels testing
- Complete blood count (CBC)
- Assessment of bleeding times
- Genetic testing
The Coagulation and Thrombosis Lab provides state-of-the-art testing for the center.
A child's specific treatment plan, including the frequency of visits, the length of treatment, side effects and long term effects are determined by the:
- Child's age, overall health, and medical history
- Extent of the disease
- Child's tolerance for specific medications, procedures, or therapies
- Expectations for the course of the disease
- The patient and family's opinion or preference
Treatment depends on the type and severity of the hemophilia. The goal of hemophilia treatment is preventing bleeding complications (primarily head and joint bleeds) parents can prevent bleeding complications by:
- Purchasing soft toys with rounded corners for young children.
- Dressing children in padded clothing and helmets when they are learning to walk or becoming more active.
- Evaluating contact sports in school for risks of injury to the child.
- Having proper dental hygiene.
- Not giving the child aspirin and aspirin-containing products if recommended by the child’s physician. These products have been linked to bleeding problems.
A child's physician may take these preventative steps:
- Give immunizations under the skin (subcutaneous) instead of in the muscle (intramuscular) to prevent deep muscle bleeds.
- recommend surgery for joint hemorrhages and/or immobilization. Rehabilitation of the affected joint may include physical therapy and exercise to strengthen the muscles around the area.
- recommend infusions of replacement blood factors to increase the child’s clotting levels before surgery or dental work. The child also may receive infusions during and after the surgery to maintain the clotting factor levels and to improve healing and prevention of bleeding after the procedure.
Blood transfusions may be necessary if significant blood loss has occurred.
Long-term outlook for children with hemophilia
Hemophilia is a lifelong disease. With the advances of specific clotting factors in laboratories, prevention and treatment of bleeds is improving. With careful management, informed decisions and recognition of complications, many children with hemophilia can live relatively healthy lives with a normal lifespan.