Hemophilia in Children
What is hemophilia in children?
Hemophilia is an inherited bleeding disorder. Children with hemophilia can’t stop bleeding because they don’t have enough clotting factor in their blood. Clotting factors are needed for blood to clot. Blood clots to prevent excessive bleeding.
There are many blood clotting factors involved in the forming of clots to stop bleeding. Two common factors that affect blood clotting are factor VIII and factor IX.
How severe your child’s hemophilia is depends on the level of blood clotting factors in his or her blood.
The 3 main forms of hemophilia include:
- Hemophilia A. This is caused by a lack of the blood clotting factor VIII. About 9 out of 10 people with hemophilia have type A disease. This is also referred to as classic hemophilia or factor VIII deficiency.
- Hemophilia B. This is caused by a deficiency of factor IX. This is also called Christmas disease or factor IX deficiency.
- Hemophilia C. Some doctors use this term to refer to a lack of clotting factor XI.
What causes hemophilia in a child?
Hemophilia types A and B are inherited diseases. They are passed on from parents to children through a gene on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome.
- A female carrier has the hemophilia gene on one of her X chromosomes. When a hemophilia carrier female is pregnant, there is a 50/50 chance that the hemophilia gene will be passed on to the baby.
- 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 about one-third of the children with hemophilia, there is no family history of the disorder. In these cases, it’s believed that the disorder could be related to a new gene flaw.
Carriers of the hemophilia gene often have normal levels of clotting factors but may:
- Bruise easily
- Bleed more with surgeries and dental work
- Have frequent nosebleeds
- Have heavy menstrual bleeding
Hemophilia C usually doesn’t cause problems, but people may have increased bleeding after surgery.
What are the symptoms of hemophilia in a child?
The most common symptom of this disorder is heavy, uncontrollable bleeding.
The severity of hemophilia depends on the amount of clotting factors in the blood. Those affected with hemophilia that have levels greater than 5% (100% being average for unaffected children) most often have bleeding only with major surgeries or tooth extractions. These children may not even be diagnosed until bleeding complications from a surgery occur.
Severe hemophilia is when the factor VIII or IX is less than 1%. Bleeding can occur in these children, even with the minimal activities of daily life. Bleeding may also occur from no known injury. Bleeding most often occurs in the joints and in the head.
Your child’s symptoms may also include:
- Bruising. Bruises can occur from even small accidents. This can result in a large build up of blood under the skin causing swelling (hematoma). For this reason, most children are diagnosed around 12 to 18 months of age. This is when the child is more active.
- Bleeds easily. A tendency to bleed from the nose, mouth, and gums with minor injury. Bleeding while brushing teeth or having dental work often suggests hemophilia.
- Bleeding into a joint. Hemarthrosis (bleeding into a joint) can cause pain, immobility, and deformity if not treated. This is the most common site of complications due to hemophilia bleeding. These joint bleeds can lead to chronic, painful, arthritis, deformity, and crippling with repeated occurrences.
- Bleeding into the muscles. 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. This can cause permanent damage and deformity.
- Bleeding in the brain from injury or spontaneously. Bleeding from injury, or spontaneously in the brain, is the most common cause of death in children with hemophilia and the most serious bleeding complication. Bleeding in or around the brain can occur from even a small bump on the head or a fall. Small bleeds in the brain can result in blindness, intellectual disability, a variety of neurological deficits. It can lead to death if not spotted and treated right away.
- Other sources of bleeding. Blood found in the urine or stool may also signal hemophilia.
The symptoms of hemophilia may look like other problems. Always check with your child’s doctor for a diagnosis.
How is hemophilia diagnosed in a child?
he diagnosis of hemophilia is based on your family history, your child’s medical history, and a physical exam. Blood tests include:
- Complete blood count (CBC). A complete blood count checks the red and white blood cells, blood clotting cells (platelets), and sometimes, young red blood cells (reticulocytes). It includes hemoglobin and hematocrit and more details about the red blood cells.
- Clotting factors. To check the levels of each clotting factor.
- Bleeding times. To test the speed that blood clots.
- Genetic or DNA testing. To check for abnormal genes.
How is hemophilia treated in a child?
Your child’s healthcare provider will refer you to a hematologist, an expert in blood disorders. Your child’s health care provider will figure out the best treatment based on:
- How old your child is
- His or her overall health and medical history
- How sick he or she is
- How well your child can handle specific medications, procedures, or therapies
- How long the condition is expected to last
- Your opinion or preference
Treatment depends on the type and severity of the hemophilia. Treatment for hemophilia is aimed at preventing bleeding complications (mainly head and joint bleeds). Treatment may include:
- Bleeding in the joint may need surgery or immobilization. Your child may need rehab of the affected joint. This may include physical therapy and exercise to strengthen the muscles around the area.
- Blood transfusions may be needed if major blood loss has occurred. This is when your child gets donated blood.
- Self-infused factor VIII or IX can allow a child with hemophilia to lead a near normal lifestyle.
What are the complications of hemophilia in a child?
Complications of hemophilia include:
- Bleeding in the joints or muscles
- Inflammation of the joint lining
- Long-term joint problems
- Very serious tumor-like enlargements, of the muscle and bone
- Development of antibodies against clotting factors
- Infections from transfusions (HIV and hepatitis B and C are no longer transmitted in donated blood)
How can I help my child live with hemophilia?
With careful management, many children with hemophilia can live relatively healthy lives with a normal lifespan.
Managing your child’s hemophilia may include:
- Taking part in activities and exercise, but avoiding those that may cause injury. These include soccer, rugby, wrestling, motocross, and skiing.
- Receiving special care before surgery including dental work. Your child’s doctor may advise factor replacement infusions. These increase the child’s clotting levels before the procedures. Your child may also get the specific factor replacement infusions during and after the procedure. These maintain the clotting factor levels and to improve healing and prevention of bleeding after the procedure.
- Preventing dental and gum problems with proper dental hygiene.
- Getting immunizations under the skin instead of in the muscle to prevent bleeding in the muscle.
- Avoiding aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs).
- Wearing medical identification (ID) in the case of an emergency.
When should I call my child’s healthcare provider?
When you should call will vary based on how severe your child’s condition is and what treatment he or she is getting. Since hemophilia is a long-term condition, talk with your child’s healthcare provider about when you should call or get medical treatment for your child.
Call your child’s healthcare provider if your child:
- Is injured
- Has pain
- Has bleeding that you cannot control
- Is scheduled for surgery or another procedure
Key points about hemophilia in children
- Hemophilia is an inherited bleeding disorder. It causes an affected child to have low levels of blood clotting factors.
- The most common symptom of hemophilia is increased, uncontrollable bleeding.
- Giving factor VIII or IX can allow a child with hemophilia to lead a near normal lifestyle.
Tips to help you get the most from a visit to your child’s healthcare provider:
- Know the reason for the visit and what you want to happen.
- Before your visit, write down questions you want answered.
- At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
- Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
- Ask if your child’s condition can be treated in other ways.
- Know why a test or procedure is recommended and what the results could mean.
- Know what to expect if your child does not take the medicine or have the test or procedure.
- If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
- Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.
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