Learn about Hemophilia Video

Ludovico Guarini, MD Pediatric Hematology Residency Beth Israel Medical Center. Fellowship: Columbia University .. Director of Pediatric Hematology at Maimonides Medical Center. Castle Connolly Top Doctor
Read the full transcript »

Male Speaker 1: Believe me, about a hundred years ago in Russia, there was a kid, a son of bizarre that had bleeding problem and some magician, evil guy came in to help the Rasputin and the people didn’t like this. May be it’s why we had communism or something but something of a bleeding problem of the kid, what’s that all about. Male Speaker 2: That particular kid actually happened to have, what’s called Factor VIII Deficiency. Also known as Hemophilia, more probably Hemophilia A. It’s a genetic disorder and it’s one of those genetic disorder where the mother is the trait, meaning the mother carries the problem but the male child has the problem. In some extremely rare occasion, a female may actually have that kind of an issue but in most circumstances, it’s the male. In essence, what we are talking about here is a situation where the very complex mechanism of cloning, which is the mechanism that allow us not to bleed to death, whenever a blood vessel is injured, it’s damage is abnormal because one of the pieces, one of the little gears that is involved in the process is abnormal. The abnormality could be of different levels. I mean, it could be very mild, in which case, the patient really has to have a significant bleeding organ or has to recognize that there is even a problem or it could be very severe. Those patients are actually the one similar to the kid you were talking about, that actually develops bleeds without even any trauma involved. The kind of bleeds that are involved are primarily joint bleeds that could be in the soft tissue, could be in the muscle or in other areas like the brain. Male Speaker 1: How is that treated? Male Speaker 2: It’s essentially a replacement therapy, that is, there is a pro tendon, there is a factor that is abnormal in the blood, it doesn’t work or it’s not there at all. We need to give factor from the outside. A long time ago, the way this was done was by giving factor whenever a patient develops a bleed. The current way to manage it is more aggressive and most, specially on kids, we try to avoid injuries that are secondary to the bleeds that can occur during so called target joint that often develops in these patients, when bleeds occur one after the other because blood in a joint is something that irritates the joint that create chronic problems that eventually lead to that joint up to work at all. So, what we try to do is to avoid the bleed in the first place. So, we use Prophylaxis and we use prevention. A lot of kids, a lot of babies that have Factor VIII deficiency are actually put on replacement therapy three times a week, intravenously for several years and some of them for an undetermined period of time. This actually has become possible for a couple of reasons. One is that the factor that we can use today is something called Recombinant factor, means it’s not taken, it’s not done by taking factor from other individuals and purified but rather these are produced in the laboratory by bacterias that have the gene inserted, so that it is a human product but it doesn’t come from human. That actually solves all kinds of problems that have to do with the potential transmission of the viral illnesses through this. Male Speaker 1: Since this is a blood talk in the beginning and there were some concerns, so many kids, because it’s a blood product, got AIDS, is that true? Male Speaker 2: That is correct. The problem with the infection with HIV and the population of the patients with Hemophilia in the early to mid 1980s is probably one of the greatest tragedies in medical history as far as I am concerned, through the then ignorance of the fact that there was HIV virus in the factor, we, the physicians at large ended up giving HIV to a number of these patients. Male Speaker 1: The present treatment is pretty safe? Male Speaker 2: The current treatment is essentially safe, meaning two things, one is that the Recombinant factor that I was talking about essentially doesn’t come from humans at

Advertisement
Advertisement
Advertisement