Living With Hemophilia: Identification and Diagnosis


Doris V. Quon, MD, helps patient Eric Mamos share the story of his diagnosis of hemophilia at an early age and review the symptoms associated with this disease.


Doris V. Quon, MD: My name is Doris Quon, and I’m the medical director of the hemophilia treatment center at the Orthopedic Institute for Children. I’m joined today by Eric Mamos, who is one of my patients. Eric, can you please share the story about how you were diagnosed with hemophilia?

Eric Mamos: First, Doris, thanks for having me on. I was born in 1976, and I have a brother who is 5 years older. It was more about him being diagnosed with hemophilia. That was a surprise, but when I started to come along, they had a pretty good feeling. I think it was a 50/50 chance that I would be a hemophiliac. I’m not sure if they did any testing or anything specific, but they were pretty confident that I was going to come out a hemophiliac from day 1.

Doris V. Quon, MD: Prior to David, your brother, there was no family history of hemophilia.

Eric Mamos: No, they tried to trace it on my mom’s side and my dad’s side, or on her dad’s side, but they could not find anybody else who was a hemophiliac.

Doris V. Quon, MD: Do you remember, or were you ever told, how David was diagnosed? Was it bleeding with circumcision?

Eric Mamos: Yes, that’s it exactly.

Doris V. Quon, MD: That’s actually a fairly common way that patients with hemophilia are diagnosed. Circumcision occurs, there’s no family history, and the patient develops excessive bleeding.

Eric Mamos: Right. I never asked my mom this, but I wonder if the mohel had quite a bit of a surprise when he did his job because I don’t think it happened in a hospital setting. I’d have to go back and ask her.

Doris V. Quon, MD: So then, were you circumcised?

Eric Mamos: In a hospital under very tight conditions.

Doris V. Quon, MD: They did it under control. What were your symptoms as a child? You were thought to have hemophilia. They did a controlled circumcision in the hospital. But what symptoms did you go on to have that led to them being sure you had hemophilia?

Eric Mamos: I don’t know. My first memories of a bleed were when my father used to do my shots at the time, which is strange to think about now. He used to do infusions in my foot. The first pain I remember was pain in my hip. I used to have bleeds in my hip, and the reason I remember that is because the only way I would get around the house was by crawling. It was a very distinct memory because I thought, “Wait, why can’t I walk all of a sudden?” There I was, crawling around like I was a Marine on the floor of the kitchen. But I don’t remember before that what was actually confirmed or not confirmed. I don’t know if they had any specific testing they completed, but they knew.

Doris V. Quon, MD: Do you recall any specific traumas or anything that actually put you in the hospital, such as a bad bleed that resulted in you going to the emergency department or having a hospitalization?

Eric Mamos: A few. The most significant was when I was 12, but prior to that when I was visiting my family in Canada, I took a bat to the head and ended up in the emergency department. Again, I don’t have a recollection of it, but everyone said I scared the entire family and it was a whole ordeal. The accident that occurred later, when I went into the hospital, was actually when I was 13, not 12. It was in the summer between 8th and 9th grade, and I had fallen off my bicycle and hit my head on the pavement. It was a big ordeal. I believe the hospital I was taken to told my mom that I had about 10 minutes to live, so she remembers that part, but then I lived. That was very, very traumatic, and I think to this day there are ramifications. I’ve had a few seizures in my life that they don’t know the cause of, but the best guess they have is it’s probably that accident.

Doris V. Quon, MD: You had a head bleed after the biking accident. I remember you telling me about that before.

Eric Mamos: Yes. It was very, very, very traumatic, but more for my family since I don’t remember a lot of it. I remember waking up to a lot of screaming kids because at the time, it was 6 kids per room. It was crazy. It was quite an ordeal.

Doris V. Quon, MD: What symptoms do you now have in terms of your hemophilia and bleeding?

Eric Mamos: I’ve really had 3 of what we call target joints in my life. One was my right elbow, which was a big problem because I insisted on playing basketball for most of my life. As a child, my parents stopped me from playing football, but they couldn’t stop me from playing basketball. I played basketball and paid the price later with my elbow being a problem, and both my ankles have caused significant issues and both are fused now. The surgery I had on my elbow allows me now to rotate my arm, but it still doesn’t go straight. Those are prices I paid, but it was always OK because I got them doing something I love, which was playing sports.

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