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Melanie Cole (Host): Sickle cell disease is the most common genetic disorder in the United States. About 100,000 Americans are thought to be living with sickle cell disease, and every year another 1,000 babies are born with the disease. My guest is Dr. Joseph Tropea, he's a hematologist oncologist with Our Lady of Lourdes Medical Center of Burlington County and of Camden. Dr. Tropea, are people born with sickle cell disease? How is it passed down? How is it inherited? And what causes it?

Dr. Joseph Tropea, DO (Guest): Basically it's an inherited disorder, it's one of the most common genetic disorders that we know about, and it's usually passed on from two parents who particularly have the trait. And the good thing is, is that we screen all our newborns initially for the sickle cell trait and the disease itself, so it is part of the neonatal screening when children are born, even if it's missed in the history from the parents, and maybe they were asymptomatic sickle cell trait carriers, then obviously their children would be screened at birth. And we've been able to identify these patients who are going to need aggressive therapy, intense monitoring, and good follow-up.

Melanie: So both parents have to have this abnormal gene for a child to come with sickle cell disease?

Dr. Tropea: Or at least the trait. If they both harbor the trait, then the prodigy would have the sickle cell disease because you need a gene from each parent to be affected.

Melanie: So how would the parents know? Who is at risk? And if people do not know whether they carry this abnormal gene, do they get tested? Who would get tested?

Dr. Tropea: Yeah, I mean it comes down to knowing your family history, and also having some degree of suspicion. I mean we typically think of this disease in African Americans, but also people of Middle Eastern descent, Southeast Asia; so it's really knowing your family history, discussing these things with your family members when everybody meets, and have some awareness of that. "I have sickle cell trait," and even having the discussion with your husband or your wife if your family history is strong you should be screened, especially if you have no symptoms and there's a potential history, it's a simple blood test that could be done.

Melanie: Do you feel that couples- do you advise couples who are planning to have children and know that they're at risk of having a child with sickle cell that they carry the trait? Do you advise them to meet with a genetic counselor or anything along those lines?

Dr. Tropea: Well it's unfortunate that I don't really get to see these patients, it's really that's more at the primary care level that we're hoping that that discussion comes about, and yeah then have that discussion with a possible genetic counselor to realize what are the implications of possibly having a child with sickle cell and what it entails.

Like I said, typically we're not involved at that point, we're usually involved in the care of these patients after the fact, after a diagnosis has been made. But yeah true, that's something we're going to ask our primary care docs, internists, nurses, it's all part of when you take a history, whether there's any family history of sickle cell disease, sickle cell trait in the immediate family.

Melanie: So if this is now screened at birth, and you determine that a child does carry this trait or does have this disease, what do you do for them? When does treatment start?

Dr. Tropea: Yeah they're immediately sent to a pediatric hematologist, and they're monitored for symptoms, if they start demonstrating sequelae of the disease, then they're steered into appropriate treatments, transfusions, intense monitoring with blood tests, imaging, possible medications down the road if need be.

Melanie: And then what is life like for a child's growing with this type of condition? And do they need treatment continuously as they grow?

Dr. Tropea: There's all different severities of the disease, so yes some patients are dependent on transfusions, some of them have flares and exacerbations of their disease that require hospitalizations and intermittent treatment. So it is quite variable and it's very patent dependent, but the key is identifying the patients and then getting them to the right doctors for monitoring and potential treatment.

Melanie: Is there any cure?

Dr. Tropea: There is, a bone marrow transplant, obviously transplanting somebody else's bone marrow would be curative. It is a possibility in select patients if they have potential donors, that that could be done, but interestingly our patients are living normal with the disease because we're treating it like the chronic illness that it is, and even when I started practicing years ago, the patients did not survive as long as they did, and now they're living into their adult age, and I think it's a feather in the cap to the developments that have been made for the treatment of the disease, and overall awareness, and intense monitoring of our patients.

Melanie: So as far as comprehensive care, and multi-disciplinary care, if patients- since you mentioned that it's a chronic illness, and it can affect many symptoms in the body. You mentioned transfusions and such, is it essential that they have a system of care set up? Primary care, hematologists, pediatricians; who is involved in care?

Dr. Tropea: It's definitely multi-disciplinary. We need the primary docs to see the patients regularly, we need the patient to have regular eye exams, they should have their skin checked for skin ulcers, they should be seeing podiatrists to make sure they're not developing any problems with their feet in terms of infections, seeing their primary physicians and making sure their vaccinations are up to date, making sure all their age appropriate vaccinations are done and cancer screenings. And then yeah, there are hematologists and nurses that if an event there are complications, that we can get on board and address those, set the patient up for transfusions if they need it, when they come to the hospital, manage their exacerbations of their disease, and again this multi-disciplinary approach.

Melanie: You mentioned making sure their vaccinations are up to date. Are they more at risk for infections and at all immunocompromised?

Dr. Tropea: They are because most of these patients, their spleen becomes afunctional, or sometimes their spleen needs to be removed, so they're obviously at risk for even the normal things that you and I might be able to fight off, because their immune system is compromised, and they really need to make sure they get the flu vacs every year, make sure they have the pneumococcal vaccination, and all the other appropriate vaccinations. And to keep the radar up for any signs of infection because they should be really treated aggressively with antibiotics empirically at times to- because sometimes it could be complicated. Their disease obviously puts them at risk for serious infectious morbidity.

Melanie: What about mental health? Where does that fit into that multi-disciplinary approach to treatment, Doctor? Because I mean it would seem to be a pretty stressful situation to be growing with.

Dr. Tropea: Yeah it's part of it, yeah. Definitely because these patients are going to have down days, good days, bad days, and because they're admitted to the hospital on a frequent basis, and they're missing work, they're missing activities of life, especially if you're young and you're trying to go to school. So yeah definitely social worker, psychiatrists, psychologists, it's really trying to get everybody on board because these patients can be very complicated and they need, like I said, comprehensive care.

Melanie: What about research? In thinking along the lines of the next ten years, do you see anything changing in treatment, in screening, in prevention?

Dr. Tropea: Well like I said, we're always looking at this bone marrow transplant option, and maybe we can identify patients who may be a candidate sooner. The process of bone marrow transplantation is evolving, so that hopefully even for a little bit older patients, it could still be an option. So yeah, the research is evolving, but I think what has gotten better at least in the twenty years I've been in practice, is the supportive efforts. Drugs like hydroxyurea that we implement in some patients that has been proven to prevent the crisis that these patients can get frequently and possibly curtail their transfusion requirement.

So hopefully we're getting smarter, but I think the most important thing is our patients are living longer with the disease, and I think it's because of the good supportive care that we ascribe to these patients for a lifetime.

Melanie: As the most common genetic disorder in the States, Dr. Tropea, wrap it up for us with what you would like listeners to know when you give lectures and webinars, and you tell people about this condition that not everybody knows about. I mean they've heard about sickle cell anemia over the years, but they really don't understand the condition. What do you tell them? What would you like them to take away from this segment?

Dr. Tropea: That it is an inherited disorder, and again the thought is it's mainly African American people, but in truth it could be patients of Middle Eastern descent, Southeastern Asian descent, Caribbean descent, so it could be not just one particular ethnicity. So it's important to have the discussions in your family about history, knowing what your family history is, because it's important to identify the patients, especially the ones who have the trait and may not know it, and then if you are diagnosed with sickle cell, making sure you have very good follow-up care, see your internist, your primary physician regularly, get good check-ups, do all the age appropriate vaccinations, and get the comprehensive care that you deserve.

Get an eye exam every year, see the podiatrist, see your internist, and visit your hematologist on a regular basis as well for follow-up and of course if it becomes more complicated and you come to the hospital, then obviously your hematologist would be involved in your care.

Melanie: Thank you so much, Dr. Tropea, for being with us today. Really, really interesting segment, and interesting topic. Thank you again. You're listening to Lourdes Health Talk, and for more information you can go to www.LourdesNet.org. That's www.LourdesNet.org. This is Melanie Cole, thanks so much for listening.