Dr. Vishwas Sakhalkar, Director of the HOPE center at The Children’s Hospital at the Medical Center of Central Georgia and Associate Professor of Pediatrics at Mercer University School of Medicine, talked about Sickle Cell Disease, at www.bio2devicegroup.org event.
Sickle Cell Disease (SCD) is a hereditary blood disorder. This devastating disease is marked by its unpredictability in flare-ups and is characterized by red blood cells that take on an abnormal, rigid, sickle shape that decreases the flexibility of the cells. Patients with SCD get hypoxia acidosis that creates sickle cell crisis. This is acutely painful condition that lands the patients into emergency care. SCD is one of the rare diseases. There are approximately 75,000 sickle cell patients in the US and an estimated 40,000 in Europe. In India, there are estimated 1 million SCD patients and there are about 100,000 patients in the Middle East. In Nigeria, where almost 24% of the population suffers from SCD, there are about 4 million patients. Annual cost of care for SCD patients in the US exceeds $1.1 B and results in almost 1.7 M annual hospital visits.
Extreme unpredictability of SCD makes it very challenging to treat in advance or manage the disease. The symptoms vastly vary among patients. The painful episodes or crises can last from hours to days and can cause pain in different parts of the body. Some people have episodes every few years, whereas some may have many episodes every year. Severe anemia is a frequent condition of SCD and it leads to extreme fatigue, paleness, rapid heart rate, and shortness of breadth. A person could be a carrier, if he or she has one gene for sickle hemoglobin and one gene for normal hemoglobin, About one in ten African-Americans carry sickle cell trait. Carriers are unlikely to develop SCD but occasionally they may also show symptoms of SCD.
In addition to medication that are prescribed to combat pain of SCD crisis episodes, there are various drugs on the market for management of SCD. Hydroxyurea, an original anti tumor drug is approved for SCD management and it works by promoting the body’s production of the type of hemoglobin, typically produced by fetuses, that has been shown to prevent sickling of red blood cells. Exjade is another recently approved drug on the market and it is oral iron chelator, used to reduce chronic iron overload. Vitamin therapy may include high dose of niacin and folic acid, in addition to antibiotic and anti inflammatory drugs that are prescribed. MP4CO is another recently approved drug that delivers therapeutic levels of carbon monoxide (CO), with an aim to stabilize the hemoglobin, prevent sickling, and alleviate pain as well as reduce the severity and duration of the crisis. Dr. Sakhalkar discussed various other drugs including Propranolol, Lovanza and others. The only available cure for SCD currently is bone marrow/ stem cell transplantation and that is a very risky procedure.
This is a wide open area that requires innovation, said Dr. Sakhalkar. Management of SCD is costly and extremely mentally and physically devastating on the patients. Bluebird Bio, Selexys, Novartis, Pfizer, and other drug companies are currently focusing on SCD. The event was followed by Q&A.