MUSC News Center
MUSC finds 'new areas to target' for sickle cell patients
Helen Adams | MUSC News Center | December 30, 2014
Photos by Sarah Pack
|Shanay Cook gets a checkup from Dr. Julie Kanter in the Sickle Cell Center at MUSC|
Shanay Cook is a soft-spoken 22-year-old from North Charleston who hopes to go back to school soon to study commercial graphics and animation. But for now, her artistic skills serve another purpose.
“To get my mind off the pain, I draw and color,” Cook said while she waited for her monthly blood transfusion at the Medical University of South Carolina.
Sometimes, art isn’t enough. Neither are Cook’s prescriptions for the powerful painkillers methadone and oxycodone.
The pain that results from sickle-shaped red blood cells getting stuck in her blood vessels can be so extreme that Cook has to go to the emergency room. Those blood cells carry oxygen to the body, so when their flow is affected, it can lead to serious problems that include organ damage.
Since Cook is already a patient at MUSC’s sickle cell clinic, the ER staff knows she legitimately needs pain treatment.
But that’s not the case for all sickle cell patients. Some don’t have any documentation of their illness. There is a test doctors can do to determine if someone has the disease, but it takes at least a day to get results.
“It’s a disease that faces incredible stigmatization. Patients are maligned,” said Cook’s doctor, Julie Kanter, M.D., who is working on new tests to diagnose the disease in minutes instead of hours or days. She directs sickle cell research at MUSC.
She attributes some of the stigmatization surrounding sickle cell to “silent racism.” An estimated 95 percent of people with sickle cell in the U.S. are African-American. It also affects people of Indian, Middle Eastern, Hispanic and Mediterranean descent.
Another problem is that the patients’ pain is not easy to measure, Kanter said.
“There’s no lab test. Patients’ vital signs do not always change. If we cut off a healthy person’s leg, your heart rate would speed up because you’re not in pain all the time. But if someone lives with pain all the time, their body adjusts to it and so there’s no increase in heart rate or blood pressure, other signs of outward pain.”
Kanter has been working on three low-cost tests to diagnose sickle cell disease on the spot, ending delays in getting pain medication for patients in crisis.
They’ll be useful in the U.S., she said, and even more important for patients in countries with fewer resources, where it can take weeks to get sickle cell test results – if they’re available at all.
The first test that Kanter is working on involves putting a drop of the patient’s blood in a small tube filled with three solutions, then using a battery-operated device to spin it until sickle cells separate from normal red blood cells. Kanter compared it to a lava lamp. “It’s different liquids of different density, and the liquid separates based on density.”
She’s working on that test with colleagues from Harvard University, Daktari Diagnostics (a company that makes medical products) and the University of Zambia in Africa. Sickle cell disease kills about 200,000 children each year in Africa, and the simple, inexpensive test is seen as a way to diagnose patients who live in areas that lack high-tech medical equipment. Daktari recently won a Small Business Innovation Research grant from the National Institute of Health. Kanter expects the test to become available in about two years.
The second test involves a different group of researchers, and Kanter has finished her work with that group. It’s a paper-based test that requires the doctor to mix the patient’s blood with a solution, then drop it on specially-designed paper. “You could actually tell from the get-go what their disease type is,” Kanter said. Then, the doctor can determine how much sickle hemoglobin is in the blood, which is important to know if the patient needs a blood transfusion.
She said the third test works like a pregnancy test. It’s a bedside test that uses a plastic lateral flow device to assess the level of different hemoglobin in the blood. It should be available within a year.
Kanter got her training in pediatric hematology-oncology (children’s blood and cancer treatment), but decided to specialize in sickle cell treatment after realizing that while there are many resources for cancer patients, there are far fewer for people with sickle cell disease.
Sickle cell is the most common genetic disorder in the U.S. About 1,000 babies are born with it each year.
MUSC recruited Kanter to help lead its sickle cell efforts in August of 2013 from Louisiana, where she directed the Sickle Cell Center at Tulane University.
Since her arrival, not only has she continued to work on point of care tests for sickle cell; she has also increased the number of multi-center treatment studies that MUSC is involved in from two to eight.
The number of patients treated in MUSC’s sickle clinic is up as well, from 550 to 700, and MUSC has launched a telehealth program that uses computer connections to link its doctors to patients in rural South Carolina who can’t get to the clinic in Charleston.
A growing number of those patients are adults. Forty years ago, the average child with sickle cell disease only lived to be 14. But these days, newborn screening and better treatments mean most people with the disease live into adulthood. As a result, Kanter and other pediatric hematologists have expanded their scope of practice to include adult patients to ensure continuity of care.
They can prevent complications that might have been deadly in the past. Doctors have also been able to identify which children with sickle cell are at risk for having a stroke, which used to be a leading cause of death. Monthly blood transfusions reduce their risk dramatically.
But there is hope for a cure in a limited number of cases. Hematopoietic stem cell transplants have cured about 400 people over the last 20 years. However, they’re risky, extremely expensive and it’s difficult to find a full-match donor.
Research is also underway on gene therapy. One of the first gene therapy trials in sickle cell disease is available at MUSC under Kanter’s direction. She said early results are promising.
Emerging treatments that prevent the damage sickle cell disease can cause are offering hope as well.
“It’s actually a pretty exciting time,” Kanter said. “There’s so much more research that we understand now and new areas to target. There are a couple of drugs I’m super excited about. We’re going to be opening a new study in the second quarter of next year and it’s going to be huge.”
But Shanay Cook, the young woman waiting for a blood transfusion, said Kanter doesn’t let her research keep her from taking care of her patients.
“Since I’ve been seeing Dr. Kanter I don’t have to go to the emergency room as much. If I have pain I’ll text her and she’ll tell me to come to clinic the next day or go to the emergency room if I need to."