Hemophilia 101

Most of you know that Magillacuttie inherited Hemophilia B Factor IX deficiency from me.

It is passed on the X-chromosome, so girls are carriers and boys are hemophiliacs.

Each of my boys have a 50% chance of inheriting it from me.

Popernickel got the luck of the draw.

Here are a few slides to help explain the bleeding disorder. Magilla has only 3% of his clotting Factor IX. As a carrier, I have 27%, and normal is 50-100%.

These pictures came from the National Hemophilia Federation website (http://www.wfh.org/index.asp?lang=EN) and the Wyeth/Benefix website (http://www.benefix.com/default.aspx?WT.mc_ID=006A501E-AF4F-46C3-9C88-5678B73F59C6&WT.srch=1&WT.mc_ev=click).

This is the recombinant anti-hemophilia Factor that he recieves (Factor IX) intravenously.

This is an example of what a knee joint bleed would look like inside the joint.

It slowly fills up with blood after an injury.

Eventually, the surrounding tissue and bone will stop the bleeding...

But not until it is very swollen and sensitive on the outside!

To prevent that, we infuse the clotting factor into his vein. This allows the blood to go through the normal clotting process to stop the bleeding. As you can imagine, the factor does not "erase" the blood that is already in the joint. It remains swollen and painful until the body "eats" away at the blood to remove it from the joint. After multiple bleeds in the same joint, permanent joint damage can occur from scar tissue and damaged cartilage.

CAUTION - Graphic Pictures follow...

Here are some photos we have taken over the years. Bleeds under the skin start as a warm tingling and then painful sensation. Because Magilla is "Moderate", he is treated as needed, so we watch bleeds (draw lines around them) to assess whether we need to infuse or not.

These two pictures are a series of bumps in the same spot. I think this was the third time he landend on the same bump. As it healed, the blood drained just to each side of the bridge of his nose. It looked like he had two black eyes for weeks. This is why we eventually got him a soft seizure helmet to protect his head when he played (and while learning to walk).

When he went to the school nurse for this shin bleed, she said it started out looking like a swollen mosquito bite. She didn't call me because she didn't think it was hemophilia releated! This is what it looked like by bedtime.

If the bleeds are close enough to the skin, they turn pretty colors as they are healing. This picture looks worse than the one above, but it actually feels better, and is almost healed. It can take weeks for it to heal completely. Not fun!!

When he smashed this finger in the sliding glass door, it turned a little purple under the nail, like normal. But a couple hours later it was so swollen that it literally split his skin open to release the pressure.

We infused and went straight to the ER because it wouldn't stop bleeding. The ER doctor tried to salvage his nail bed by removing the nail and sliding a piece of it where it should be to keep the nail bed from healing over. It was pretty nasty for several weeks.

This was our check up at the Hemotologist's office. I remember him saying how "GREAT" it looked. He was impressed at how well it had healed up to that point. Another few weeks later, he began growing a new finger nail and the old peice of nail (place-holder) slowly got pushed out.


Infusing Magilla at home with his factor before a dentist visit. He also took an oral medication to prevent his saliva from breaking up any clots that formed in his mouth with the help of the factor. The factor only stays in his system for 24 hours (with a half-life of 12 hours), so often it is a several day treatment. We won't get into the cost of it - that is a whole other blog topic!