HEMOPHILIA

Hemophilia is an inherited bleeding disorder in which the blood does not clot normally because of a missing or dysfunctional clotting protein. Clotting proteins, also called clotting factors, work with other blood components – such as platelets, von Willebrand factor, and other proteins – to form a blood clot. When any of these components is absent or low, increased bleeding can result. If clotting factor VIII (8) or factor IX (9) are affected, this bleeding disorder is called hemophilia.

• Individuals with hemophilia don’t bleed faster than normal, but they bleed for a longer time because their blood clots more slowly.
• Hemophilia is usually passed from parents to children through genes, but about one-third of individuals with hemophilia have no family history of the disease and their hemophilia is due to a new genetic mutation.
• The severity of hemophilia can be mild, moderate, or severe depending on how much clotting protein is in the blood.
• Hemophilia affects all races equally, but affects boys more often than girls. About 1 in every 5,000 boys born has the disease. It is unclear how many females have hemophilia, but those who do rarely have severe hemophilia.

Hemophilia Treatment

We treat our patients who have hemophilia.

Our team helps children and adults with hemophilia and their families to manage the illness as independently as possible and therefore lead more normal, healthy lives. Our patients receive the benefit of access to cutting edge hemophilia treatments pioneered by our researchers.

How is hemophilia classified?

Hemophilia has two main types based on which blood clotting factor is abnormally low.

• Hemophilia A is caused by absent or low level of factor VIII (8).
• Hemophilia B is caused by absent or low level of factor IX (9).

Normal plasma levels of factor VIII and IX range from 50% to 150%. Individuals with severe hemophilia have <1% of factor in their blood, moderate hemophilia 1-<5%, and mild 5-<50%.

What are the symptoms and causes of hemophilia?

Hemophilia symptoms

The most common hemophilia symptoms are excessive bleeding, typically into the muscles and the joints. Children with mild hemophilia may have no bleeding episodes until they have surgery, a dental procedure, or experience a trauma. Children with severe hemophilia can bleed spontaneously (no injury) into joints, muscles, or other organs.

Other hemophilia symptoms may include:

• Bruises from small accidents, which may result in large hematomas (collections of blood under the skin that cause swelling)
• Nosebleeds that are difficult to control
• Blood in the urine or stool
• Muscle bleeds that cause swelling and pain
• Joint bleeds, which cause pain, swelling and immobility
• Internal bleeding such as head bleeds (potentially life-threatening)
• It is important to understand that some symptoms of hemophilia may resemble those of other more common medical problems. Because some of these symptoms can also point to other conditions, it’s important to have your child evaluated by a qualified medical professional for an accurate diagnosis and prompt treatment.

Hemophilia causes

Hemophilia A and B are inherited disorders. The abnormal factor VIII or IX gene is passed from parent to child on the X-chromosome. About one-third of cases develop from new gene variants in an individual, and there is no family history. Males have one X and one Y chromosome (XY), while females have two X chromosomes (XX). A male who has a hemophilia gene on his X chromosome will have hemophilia of some severity. If a female inherits a hemophilia gene, she will typically have one normal factor gene and one abnormal factor gene. This is referred to as a “carrier”. Usually, the one normal factor gene is enough to produce normal levels of factor; however, in some cases females may have mild deficiency of factor VIII or IX levels and have bleeding symptoms. In rare cases, females can have severe factor deficiency.

How is hemophilia diagnosed?

If your child is suspected of having hemophilia, he or she will be referred to a hematologist, a doctor with specialized training in treating blood disorders. Blood tests often include:

• Prothrombin time (PT) and an activated partial thromboplastin time (PTT) – these tests look at general blood clotting and screen for possible deficiency of different blood clotting proteins including factor XIII and factor IX.
• Levels of specific clotting factors, if there is a concern for a deficiency of factor VIII or IX
• Genetic testing to identify the specific mutation (pathogenic variant) responsible for the “hemophilia gene.” This may be particularly important for possible female carriers whose factor level is in the normal range.

Other diagnostic tests may be necessary depending on your child’s individual situation. Once all necessary tests are completed, our experts meet with you to review what they have learned about your child’s results and to outline the best possible treatment options.

What are the treatments for hemophilia?

The approach to treatment depends on the hemophilia type and severity and the individual’s bleeding symptoms. Our goal is to prevent spontaneous bleeding in severe hemophilia patients and to quickly treat and control bleeding symptoms due to injury that occur in patients with all types and severities of hemophilia.

Your child’s hemophilia treatment may include:

• Factor replacement therapy. Special concentrates of factor VIII (8) and factor IX (9) protein are available for Hemophilia A or Hemophilia B, respectively. The factor concentrates are administered by infusion (injections into a vein) and allow us to replace the missing or low clotting factor. We use these infusions of factor concentrate to both prevent and treat bleeding and promote healing. Patients will often receive Factor replacement therapy prior to (and sometimes after) surgery or procedures such as dental work. Individuals with severe hemophilia A or B receive regularly scheduled home infusions of factor concentrates, called prophylaxis, to help prevent frequent bleeding symptoms.
• Desmopressin, a synthetic hormone known as DDAVP that your child may receive if he has mild hemophilia A. This can be administered as a nasal spray, Stimate®, or by infusion into the vein like factor concentrate.
• Antifibrinolytic agents. Oral medicines such as aminocaproic acid and tranexamic acid can be used to help make clots more stable. These medications may be particularly helpful for managing bloody noses (epistaxis), heavy menstrual bleeding, and after dental procedures for patients with bleeding disorders. They may be used alone or together with DDAVP or factor replacement therapy.

During the course of treating your child’s hemophilia, your child’s doctor will likely recommend several preventative measures including:

• Giving routine immunizations subcutaneously (under the skin) rather than in the muscle to prevent deep muscle bleeds. This is important for your pediatrician to know.
• Avoiding aspirin and ibuprofen (NSAIDs), as well as products containing them. These medications can affect platelet function and may increase bleeding symptoms in persons with hemophilia.
• Routine (yearly) evaluations at a Comprehensive Hemophilia Treatment Center to ensure screenings, such as assessment of joint and muscle health by a physical therapist, and up-to-date bleeding management plans are in place.

Your child is an individual, and your hemophilia team will take many factors into account to ensure the best treatment and follow-up plan for your child including:

• Your child’s age, overall health and medical history
• The severity of the disease
• Your child’s tolerance for certain medications, procedures or therapies
• How your child’s doctors expect the disease to progress
• Your opinion and preferences

What is the latest research on hemophilia?

What is the long-term outlook for hemophilia?Hemophilia is a lifelong condition, but the quality of life for patients with hemophilia is better now than ever before due to access to factor replacement therapy and comprehensive specialized hemophilia care. Today, children with hemophilia of all severity levels have regular attendance at school, and participate in school and community activities and many types of sports. Children with hemophilia need regular medical follow-up and preventative health screenings. Your child’s pediatrician should give routine immunizations subcutaneously (under the skin) to prevent deep muscle bleeds. Your child should avoid aspirin and ibuprofen (NSAIDS), as well as products containing them, since they have been linked to bleeding problems.