Hemophilia

What is hemophilia? 

Hemophilia is a genetic blood disorder in which the blood does not clot properly.  

It usually runs in families. But there are times a person may be the first one in their family to develop hemophilia. 

Certain proteins in the blood help platelets stick together to form clots. These proteins are called factors. Hemophilia is caused by a change (called a mutation) in a gene that provides instructions to proteins to form clots in the blood. This means the blood does not clot fast enough when tissue is injured.  

Hemophilia results in soft, unstable clots or no clot forming at all. 

The 3 most common types of hemophilia are: 

• Factor VIII (8) also called Hemophilia A 
• Factor IX (9) also called Hemophilia B 
• von Willebrand disease (vWD) 

People with hemophilia do not typically bleed faster than other people. They just bleed for a very long time. 

Types of hemophilia  

There are 3 types of hemophilia A and B. They are based on the amount of factor VIII or factor IX a child has: 

• Mild means factor ranges from 5–40% of the normal amount 
• Moderate means factor ranges from 1–5% of the normal amount 
• Severe means factor is less than 1% of the normal amount 

Hemophilia testing  

If you have a family history of blood disorders, your child should be tested. If a child has severe hemophilia, the family will usually find out at birth or by the time the child is a toddler. Testing for hemophilia can happen soon after birth. 

If your family has a history of bleeding disorders, your child’s care team will likely order blood tests. These tests check how well your child’s blood clots.  

Sometimes, even infants with no family history of bleeding disorders can have a spontaneous mutation. These infants are screened when members of the family or care team members notice symptoms. 

According to the Centers for Disease Control and Prevention, symptoms in infants might include: 

• Bleeding or bruising from the scalp after birth 
• Bleeding for a long time after a heel stick 
• Bleeding for a long time after circumcision 
• Unusual or severe bruising 

Hemophilia treatment 

If your child is diagnosed with hemophilia, they will have a specialist called a hematologist. A hematologist is a doctor who specializes in treating blood disorders. 

This doctor does blood tests and writes the prescription for factor medicine, as needed. Factor medicine can help clot blood by replacing the missing proteins from their blood. 

Children with severe hemophilia will need factor medicine infusions up to 3 times each week.  

How often your child needs these infusions will depend on what your child’s care team thinks is best.  

Treating a bleed 

You must always have factor medicine supplies on hand if your child has a bleeding disorder. This is important in both emergency and non-emergency situations if your child is injured.  

You can infuse the factor medicine at home. You should always infuse first. Even when you are in the emergency room, the infusion should take priority over X-ray, labs, or other tests.  

Emergency treatment 

In an emergency, like a head injury, take your child and the factor medicine you have to the nearest emergency room. 

The emergency room care team will mix and infuse the factor treatment through an IV in your child’s arm. This gives your child the factor. 

Non-emergency treatment 

If your child has a minor injury, infuse the factor medicine yourself first at home.  

Then do RICE steps: 

• Rest 
• Ice 
• Compression  
• Elevate 

You can help prevent pain, swelling, and potential joint damage if you infuse and follow-up with the RICE steps quickly.

Joint bleeds in hemophilia  

Joint bleeds are the most common type of bleeds in people with hemophilia. These bleeds can happen in any joint. But they are most common in the knees, elbows, and ankles.  

Treating these bleeds is vital because they can damage the joint.  

Early signs and symptoms of a joint bleed 

• Pain, bubbling, tingling, and heat 
• Swelling and pain increasing as bleeding progresses 
• Usually, no visible bruising 
• Your child does not want to move 
• Your child holds affected limb in “flexed position” or bent 

Late signs and symptoms of a joint bleed 

• Pain, swelling, and heat 
• Pain and swelling in certain joints because of extra fluid 
• Joint destruction that can cause muscle wasting 
• Stiff, chronic pain 
• Limited mobility 

If you suspect a joint bleed, treat your child with factor at home immediately. Then: 

• Always follow the in your treatment plan for any joint bleed. 
• Use a tape measure and measure both the affected joint and the non-affected joint to compare size, shape, temperature, and pain. Measure at the largest point of swelling. 
• Call your child’s care team to report the bleed.  
• Use RICE. 
• Remember that your child should stay off the joint until the pain and swelling improves. 

Call your child’s care team if you are unsure about your next steps.