By Collin Siedor
Among every five thousand babies born, there is one child, almost always a boy, who has hemophilia, a genetic disease that stops the blood from clotting. It strikes every ethnic group in every part of the world. In the United States alone there are nearly 20-thousand hemophiliacs. One of them has come to the emergency room.
Dr. Kathleen Nelson, Professor of Pediatrics, looks over 8-year-old Daniel's arm. "It looks like it's swollen. Is it painful?" she asks. Daniel nods his head yes.
It seems Daniel was wrestling with his sister yesterday and bruised his arm and elbow.
"Daniel has the classic kind of hemophilia where he is low in a substance called Factor 8 which is one of the many substances that are needed in the clotting of blood," she says.
After examining the x-rays, it is clear that the boy has no broken bones but he is bleeding. "I felt his arm and there is actually some warmth in the muscle so I think he's probably just got a hematoma, " the doctor explains.
Daniel's arm is bleeding on the inside and it won't stop. Because of a defective gene inherited from his mother, his body doesn't produce enough of the Factor 8 protein that is required for blood to clot.
"Luckily there is a treatment for hemophilia because they've manufactured now a recombinant kind of genetically altered material of Factor 8," Dr. Nelson says.
Once every two or three weeks since he was born, Daniel has come to the emergency room to get an I.V. to infuse him with enough Factor 8 to stop the bleeding. Typically, his parents bring the Factor 8 with them but it takes a trained nurse to install the I.V. effectively with a minimum of pain.
"He'll get some Factor 8 today, probably get some tomorrow and maybe the next day and that should stop continuation of the bleeding," Dr. Nelson says.
But, when he falls again or bumps into something or somehow gets hurt, he'll have to come back.