Sickle cell disease can be difficult to live with. This genetic condition prevents an adequate amount of blood from circulating throughout the body, meaning organs aren’t getting the oxygen they need to function properly. Over time, this can cause complications like cognitive impairment, stroke, an increased risk of severe infections, hypertension, kidney disease, renal failure, retinopathy (a type of vision loss) and early onset osteoporosis.
The average life expectancy for someone who has sickle cell disease is in the mid-40s. But with increased awareness and research, that is hopefully changing.
“In the United States, sickle cell disease predominately affects African Americans,” says Asif Alavi, M.D., a hematologist at Henry Ford Health. “Because of this, sickle cell research has been sorely lacking. A classic comparison is cystic fibrosis, which primarily affects Caucasians. There has been about eight to ten times the amount of research funding for cystic fibrosis than for sickle cell disease. Fortunately, over last five or six years, there has been an emphasis at both the national and local levels to increase funding for sickle cell research, which has resulted in more treatment options.”
Treatments To Manage Sickle Cell Disease
Sickle cell disease creates mutations in red blood cells, making them form a “C” or sickle shape instead of a circle. This causes red blood cells to get stuck in blood vessels, resulting in what’s called pain crises. The lack of blood flow also causes severe anemia.
Several treatments—approved for both adults and children—can ease symptoms and even prevent the formation of these “C” shaped red blood cells:
- Hydroxyurea is a chemotherapy that’s taken daily in pill form. It is the treatment that has been around for the longest amount of time. “Hydroxyurea is very effective in treating sickle cell disease,” says Dr. Alavi. “It eliminates pain and improves blood flow. It has even been shown to increase life expectancy.”
- Chronic transfusion therapy removes someone’s sickled blood and replaces it with healthy blood. To maintain effectiveness, it must be done on a monthly basis.
- L-glutamine is a powder that’s taken daily. It has been shown to reduce pain and acute chest syndrome, which occurs when someone develops sickling in the lungs, causing symptoms of pneumonia.
- Voxelotor is a pill that’s taken daily. It prevents red blood cells from sickling and improves hemoglobin (the protein in red blood cells that transports oxygen throughout the body).
- Crizanlizumab is an IV medication that’s given monthly. It prevents red blood cells from sticking to blood vessels, reducing pain crises.
Treatments To Cure Sickle Cell Disease
Two treatments have been shown to cure sickle cell disease: stem cell transplant and gene therapy, the latter of which is still in clinical trials:
Allogeneic stem cell transplant
An allogeneic stem cell transplant replaces sickle-forming stem cells with a donor’s healthy stem cells. Chemotherapy is needed to get rid of the existing sickled blood cells, but recent approaches use light chemotherapy or no chemotherapy at all, which makes it easier on people who can’t tolerate chemotherapy.
Meet With A Hematologist
After a successful allogeneic stem cell transplant, your body will no longer produce sickled red blood cells.
“We’ve been performing stem cell transplants in both adults and children for a while, for both cancerous and non-cancerous diseases,” says Dr. Alavi. “But with recent advances in allogeneic stem cell transplant, instead of needing a donor that is 100% your match for HLAs (human leukocyte antigens, or protein markers) we can use a half-match donor, which increases the list of potential donors.”
After receiving a stem cell transplant, you’ll have to be on immunosuppressive medication for a while. This will help prevent your body from rejecting or attacking the donor stem cells. Immunosuppressive medication can heighten your risk for contracting severe infections, so your doctor will advise you to take precautionary measures.
“That being said, the success rate is very high for allogeneic stem cell transplants—it’s in the 80 to 90% range—and you can be cured for life,” says Dr. Alavi.
Gene therapy
Gene therapy is essentially a stem cell transplant—but instead of using a donor’s stem cells, your own stem cells are collected, genetically modified and used to replace the sickled stem cells. Like allogeneic stem cell transplants, gene therapy may require chemotherapy to get rid of the existing sickled blood cells.
“The early results of gene therapy are very positive,” says Dr. Alavi. “Clinical trials show gene therapy has eliminated the symptoms of sickle cell disease in the majority of patients. Over time, we will know if this represents a cure. We’ve seen improvements in hemoglobin, anemia and pain crises. Gene therapy is moving toward FDA-approval this year and we are one of the first centers in the country to be working with it.”
But amidst these advances, one hurdle we need to overcome is lack of awareness.
“The biggest tragedy is that people don’t know about these treatments—they don’t know cure is a possibility,” says Dr. Alavi. “But this isn’t futuristic medicine. I’ve seen people with my own eyes who have essentially been cured of sickle cell disease. Along with the strides we’re making in treatments, we’re also trying to increase awareness so everyone who has sickle cell disease can benefit. They don’t need to suffer with this disease.”
Asif Alavi, M.D., is a hematologist at Henry Ford Health. He sees patients at Henry Ford Cancer—Detroit and Henry Ford Medical Center Bloomfield Township.
