Hemophilia

What is hemophilia?

Hemophilia is a rare inherited bleeding disorder that causes blood to not clot properly. Clotting is when the platelets and proteins in the blood stick together to help stop the body from bleeding and losing more blood. There are three types of hemophilia, including:

• Hemophilia A (factor VIII deficiency)
• Hemophilia B (factor IX deficiency)
• Hemophilia C (factor XI deficiency)

Each type differs primarily by the missing factor and severity, with hemophilia A being the most common. Yet, all hemophilia types can lead to serious health problems if not managed properly.

What causes hemophilia?

People with hemophilia have insufficient clotting proteins called clotting factors. Hemophilia is a genetic disorder, which means it is passed down from the parents.

Who gets hemophilia?

Hemophilia is more common in males but can also affect females. People with hemophilia include all races and ethnic groups, but it occurs more often among white males compared to Black or Hispanic.

What are the signs and symptoms of hemophilia?

Often, hemophilia symptoms may not show until a child experiences heavy bleeding, such as surgery or an injury, which can cause a delay in diagnosis. Hemophilia is typically diagnosed in childhood with the following signs and symptoms:

• Excessive bleeding or prolonged bleeding in joints, muscles or soft tissues
• Spontaneous bleeding
• Deep internal bleeding
• Large, deep bruises
• Frequent nosebleeds
• Joint pain or swelling without injury
• Some severe cases may also have unexpected bleeding, like after a vaccination

Sometimes, hemophilia can be mistaken for other bleeding disorders such as von Willebrand disease or thrombocytopenia.

How do we test for hemophilia and diagnose hemophilia?

We diagnose hemophilia through blood tests that measure clotting factor levels and how long it takes blood to clot, including:

• Clotting factor assay: A definitive test  unique to diagnosing hemophilia that measures levels of factor VIII (hemophilia A) or factor IX (hemophilia B)
• Activated partial thromboplastin time (APTT) test: Measures how long it takes blood to clot and if it’s longer than usual, that may indicate a factor deficiency
• Prothrombin time (PT) test: Evaluates clotting ability and rules out other clotting issues or blood disorders
• Complete blood count (CBC): Measures platelet levels and makes sure low platelets aren’t causing further bleeding issues

If your child’s doctor identifies a family history of hemophilia, we can also test potential carriers of the gene and newborns using the umbilical cord blood. We can also perform thorough genetic testing to identify the gene variant in carriers.

What can I expect from hemophilia testing?

Like a standard blood test, each test involves a quick blood draw (venipuncture) to obtain a small amount of blood. Hemophilia tests are not painful for children but may be scary and overwhelming due to the quick pinch of a needle. While some children may be fearful of this process, our child life specialists and dedicated nurses are trained to make the process as comfortable and easy for children as possible.

Each blood test typically takes a few days to receive results, while genetic testing may take months. Turnaround times for each type of test include:

• Initial screening: 1 to 3 days
• Clotting factor assays: 3 to 7 days, but can be within hours at specialized centers
• Genetic testing: 2 to 6 weeks, sometimes months
• Prenatal testing: Approximately 10 days

How do we treat hemophilia?

Hemophilia requires lifelong management and treatment. This condition in children is largely treated with factor replacement therapy that works by injecting missing blood-clotting proteins, like clotting factor VIII or IX, into the bloodstream to temporarily help the body form clots, treating bleeding issues and prevent joint damage. In some cases, newer preventative therapies may also be available that are injected under the skin instead of intravenously.

Hemophilia treatment rarely requires a hospital stay, especially once care and symptoms are managed. However, children may need to use caution with certain activities or may need follow-up treatments based on recommendations from their care team.

Why choose us for hemophilia treatment?

Our Hemophilia and Thrombosis Center works in partnership with the University of Colorado Hemophilia and Thrombosis Center, one of the world’s top programs for the treatment and management of bleeding disorders in children and adults. As the only Maternal Child Health Bureau federally designated hemophilia and thrombosis center in the Rocky Mountain region, our experts are setting the highest standard of care for hemophilia treatment.

Through a multidisciplinary approach, our team of board-certified pediatric hematologists, registered nurses and advanced practice providers provide care from diagnosis through treatment and follow-up needs through adulthood. Unlike many programs, our team can also:

• Identify and help with any surgical planning
• Provide family support services and accommodation assistance
• Schedule both inpatient and outpatient local and regional care management
• Recommend parent support groups
• Support school visits
• Facilitate summer camps and disease-specific retreats
• Schedule for specialty bleeding disorder clinics

Working closely with the University of Colorado Hemophilia and Thrombosis Center, we have access to its groundbreaking clinical research that continues to revolutionize care of bleeding and clotting disorders like hemophilia in children and adults. Through clinical trials, innovative genetic testing, new medications and in-home administration capabilities, our program provides the highest quality care and is continuously improving  to produce the best outcomes.