The disease, its impact, and how medical science is improving outcomes. New therapies hold promise for a universal cure. (Photo above: Dr. Jeffrey Lebensburger
In honor of Sickle Cell Awareness Month, Dr. Jeffrey Lebensburger, Associate Professor at University of Alabama at Birmingham (UAB) and Director of the Hematology Section within the Division of Pediatric Hematology and Oncology at Children’s of Alabama, covers information about the disease, its impact, and how medical science is improving outcomes.
What Is Sickle Cell Disease?
Sickle cell disease is a disease of the red blood cells. Instead of maintaining a round shape, the blood cells take on a moon-like shape. As the cells move through the body, this can cause complications such as pain or organ damage.
It is an inherited disease and is identified at birth via a blood screening. Unfortunately, many adults do not know their sickle cell trait status and may unknowingly pass the disease onto their child. Fortunately, there are many dedicated researchers trying to improve trait education—particularly in the African American community where sickle cell disease is much more prevalent than other populations.
Symptoms and Complications
The primary manifestation of sickle cell is pain, or what Dr. Lebensburger calls a “pain crisis.” Because of the cells’ shape, they often get “stuck” in a blood vessel, and any area past that point doesn’t receive enough oxygen. When this occurs in the brain, for example, a stroke could result.
“While pain is a major issue in our patients, we are also trying to get them to understand how sickle cell impacts their entire body. While many patients suffer a lifetime of pain, the long-term issues they run into is problems with their organs. People may experience kidney, breathing, or heart problems,” explains Dr. Lebensburger.
Kidney disease is one of the highest occurring complications, with anywhere from 25 to 50 percent of sickle cell patients developing the disease. Constant kidney monitoring throughout a patient’s life is critical to prevent those patients from eventually requiring dialysis.
Treatment Options
It’s an exciting time in sickle cell research, with a number of clinical trials in process. The therapy with the most clinical data is a medicine called hydroxyurea, which is also used as a cancer drug. Current recommendations advise all patients who are nine months of age and older be offered hydroxyurea.
“We know it can tremendously decrease complications, and there is data also showing it can improve people’s lives and even increase a patient’s lifespan,” notes Dr. Lebensburger.
For patients who have a sibling without sickle cell disease, bone marrow transplant may be a curative option. If appropriately genetically matched, transplant cure rate is 97 percent. Even if a sibling match isn’t available, there are other ways transplant can lead to cure.
Gene therapy is an additional option with a promising future. “Technology exists where we can actually go in and ‘correct’ the sickle cell gene itself. We’re doing this here at UAB, along with other entities throughout the country. That will hopefully be the last treatment option we need, because if we can take everybody’s cells, correct them, and give them back, then we have developed an opportunity to cure every single patient—not just those who have a matched donor,” assures Dr. Lebensburger.
Consciousness Around Opioids
With the opioid epidemic top of mind, Children’s of Alabama is intently focused on complementary ways to ease patients’ pain. The Children’s of Alabama Sickle Cell Center has opened up a pain clinic that offers non-opioid therapies such as virtual reality (VR) relaxation techniques.
“We’ve shown through this pain clinic that we can dramatically reduce hospitalization rates and we can actually get our patients home with less opioids than when you go to the emergency room,” shares Dr. Lebensburger. “Many people think pain crisis is all about, ‘I need my opioids.’ But, there are a lot of strategies we can do on top of that to try to reduce the complications from [opioids].”
Educational Resources
For more information about the various treatment options Children’s of Alabama offers, visit www.childrensal.org/sickle-cell-disease or www.hematology.org/scd. You can also listen to an extensive podcast episode on this topic via this link: https://radiomd.com/childrensalabama/item/43105.
“Educating patients and their families about the disease is imperative. As doctors, we can give people information, but really having the patients learn about their own disease is so important,” concludes Dr. Lebensburger.
