Hemophilia

Hey! In this lesson we are going to talk about Hemophilia in pediatric patients.

Okay, so the term hemophilia refers to a group of bleeding disorders. Patients with hemophilia aren’t able to clot when they have an injury because they are missing a certain clotting factor. It’s caused by an x-linked recessive gene. All this means is that females are carriers and pass the disorder onto males. Remember females have two XX’s which means the X without the gene takes over and females don’t have symptoms. Males have XY so if they have an X with the hemophilia gene they will definitely have the disorder.

There are several different types of hemophilia A, B & C. Hemophilia A is missing clotting factor VIII. Hemophilia B is missing clotting factor IX. Hemophilia C is missing clotting factor XI. A is the most common and accounts for 80% of hemophilia cases.

Your assessment of a patient with hemophilia is all about looking for signs of bleeding. Sometimes this will be obvious from a cut or injury. Other times the bleeding could be happening kind of silently. The most common place for bleeds are in joints. This is called hemarthrosis and the child is probably going to complain of pain in the joint. On assessment it will be red and warm. Other places bleeding can occur are in the brain and in the GI system. These can be life threatening so make sure not to miss symptoms like 1) Visual Changes 2) Headaches 3) Changes in their level of consciousness 4) Slurred speech. For GI Bleeds be on the lookout for 1) Hematemesis (vomiting blood) and 2) Melena (blood in stools- dark red or black).

In their blood work you’ll note a prolonged PTT. PT times and thrombin times will be normal.

Standard treatment of hemophilia is to replace the clotting factor that is missing. The clotting factors are given slow IV push. Depending on how severe the hemophilia is, some kids will have a central line placed to avoid having to start IV’s every time they need an infusion.

DDAVP is a medication called Desmopressin and it’s given IV infusion. It only works with mild hemophilia because it actually works by stimulating the body to release more of the missing factor, not by replacing the missing factor.

A really common problem that occurs with hemophiliacs are joint problems. Because they get bleeds there so often the joints the surrounding tissues can become damaged- so these patients may need physical therapy to make sure kids don’t end up with contractures.

The best way for hemophilia to be managed is at home. So parents are educated on how to either start IV’s or access central lines and give the factor. This makes sure kids get treatment as quickly as possible with minimal impact on their daily lives.

In addition to learning how to give the medication parents and kids also need to know the following. They need to avoid contact sports! They should never give aspirin or NSAIDS for pain or fevers because they can cause bleeding too. Protective gear is really helpful, especially for accident prone toddlers and preschoolers. And they obviously need to feel pretty comfortable giving first aid.

Your priority nursing concepts for a pediatric patient with hemophilia are clotting, oxygenation and safety.
Okay- that’s it for this lesson. Hemophilia is pretty straightforward and really kids with hemophilia do really well and have a good life expectancy if they manage it properly. So let’s recap really quickly. Hemophilia is an x-linked recessive disorder where the patient is missing a clotting factor and therefore bleeds for longer when injured.
Hemophilia A is missing factor XII (8), Hemophilia B is missing factor IX (9), Hemophilia C is missing factor XI (11).
Your assessment of a patient with hemophilia is all about looking for signs of bleeding- the obvious ones and those less obvious like joints, brain or GI.

Treatment is just giving the patient an infusion of the factor that is missing and management is best when done at home- so parents and kids need to know how to prevent bleeds and then also how to administer their own clotting factor.

That’s it for our lesson on Hemophilia. Make sure you check out all the resources attached to this lesson. There’s a cheatsheet on clotting cascade if you need a refresher on the patho. Now, go out and be your best self today. Happy Nursing!