What You Might Not Know About Sickle Cell Disease
Education & Research Richard Drachtman, M.D., explains why more people should be paying more attention to sickle cell disease and who is most at risk.
We sat down with Richard Drachtman, M.D., Professor of Pediatrics and Clinical Section Chief, Pediatric Hematology Oncology, Rutgers Cancer Institute of New Jersey, to discuss why people should be more aware of sickle cell disease.
What is sickle cell disease and what causes it?
Sickle cell disease is a genetic illness that is autosomal recessive, which means you have to inherit the defective gene from both of your parents. Red cells carry the oxygen through the body and are usually flexible and disc-shaped. In the sickle cell disease, the red cells are shaped like a crescent moon. These cells get stuck and can’t deliver the oxygen throughout the body. As a result of cells not delivering oxygen, affected patients can have pain when cells are sickled, and chronic damage to vital organs such as their brain, lungs and kidneys. The abnormal red cells also don't live as long as regular red cells, which makes it harder to deliver oxygen. Patients often have chronic fatigue due to anemia, which means that there is an abnormally low number of red cells. Another way to think about sickle cell disease is as a “traffic jam” in the blood.
What do you think everyone should know about sickle cell disease?
Sickle cell disease is caused by a single amino acid mutation that is thought to have evolved to help protect against malaria, which is why it is most common in patients of African and Mediterranean descent. As many as 10 percent of African Americans carry this gene, making sickle cell disease quite common.
Even though sickle cell disease is very common, it is important to get treated at sickle cell centers where doctors and nurses are experts in the illness. The only current cure is bone marrow transplantation which is only available to a small number of patients, but there are other treatments available and a number of clinical trials that are very promising.
About 100,000 patients are affected in the United States, and many more are affected worldwide. Patients and family members need to know that with proper care, patients with sickle cell disease can have great quality of life and not let sickle cell disease control them. They also need to be aware that by supporting research and clinical trials, patients will do even better in the future.