Sickle cell disease (SCD) affects one in 1 in 365 babies born in the United States accounting for over 100,000 people living with SCD. It is a blood disorder that is not as widely known or understood by the general population, yet a lot of progress has been made on treatment and patient quality of life and expectancy. Leila Jerome Clay, MD, MCTS, medical director of the comprehensive sickle cell program at Johns Hopkins All Children’s Hospital, explains what the disease is, who it affects and clears up some common misconceptions in honor of Sickle Cell Disease Awareness Month.
What is sickle cell disease?
Sickle Cell Disease is a disorder that affects the red blood cells causes by one mutation. It is the most common genetic disorder diagnosed worldwide. The patient’s red blood cells are a crescent moon shape instead of a normal disc shape, and they are also less flexible, which can cause blockages throughout the blood vessels resulting in episodes of pain. Patients have weaker immune systems and the disease can affect other organs such as the heart, lungs, kidneys and liver. Some patients are at higher risk of infections, stroke, pneumonia, meningitis and osteomyelitis (bone infections).
How is sickle cell disease treated?
Researchers started studying SCD in the U.S. in 1910 when the first case was reported, but over the past 100 years, there had not been a lot of treatment options. For 30 years only one medication was used as a disease modifying agent. In the last year, there have been two new medications approved, with a total of four medicine options now available. These agents can help to decrease symptoms, pain episodes and complications associated with SCD. Gene therapy is widely being studied as another option, where the patient’s gene is modified by removing the compound that is causing the disease to be active. SCD can be cured with a bone marrow transplant, if the patient has a sibling or unrelated donor who is a 100% identical match. Studies are also being done with haploidentical (50% identical) donors as well.
What are the top 3 misconceptions about sickle cell disease?
Myth 1: You can “catch” sickle cell disease and it is spread from person to person.
Fact: SCD is not contagious. It is actually a genetic disorder that people are born with – you can’t “catch it” later on in life.
Myth 2: Only black people get sickle cell disease.
Fact: While its origins come from Africa, the disease is seen all over the world in different racial and ethnic groups in not only African Americans, but Caucasians, Hispanics (one in 16,000 are diagnosed with SCD) and many people in India also have the disease.
Myth 3: Sickle cell disease is a “poor people” disease.
Fact: Sickle cell disease does not look at your socioeconomic status, it is genetic. If two parents have the sickle cell gene, regardless of their social background can pass one the gene to their child.
Johns Hopkins All Children’s comprehensive sickle cell program is a part of the Cancer and Blood Disorders Institute, and has clinics on its main campus in St. Petersburg as well as Tampa and Lakeland. It encompasses a newborn program which allows babies born with SCD to be seen by the clinic in their first two months of life, providing families needed support and education. The program also includes a transition component which prepares adolescents and young adults for adulthood. For more information about the sickle cell disease program at Johns Hopkins All Children’s Hospital, visit the Sickle Cell Program page here.
About the Author: Dr. Clay is director of the sickle cell program in the Johns Hopkins All Children’s Cancer & Blood Disorders Institute. She is an assistant professor of pediatrics in the Johns Hopkins University School of Medicine. Dr. Clay treats children, adolescents and young adults with rare blood disorders such as sickle cell disease and thalassemia. Trained in both pediatrics and internal medicine, she plays the key role of a physician navigator in transitioning adolescents with these diseases to adult care. She has established her research in sickle cell disease where she studies the mechanistic contribution of vitamin D deficiency and its effects of disease manifestation of sickle cell disease as well as bone disease. Her primary professional objective is to translate her clinical research to the field. Dr. Clay earned her medical doctorate from Morehouse School of Medicine. She completed her Internal Medicine and Pediatrics residency at Rutgers University/New Jersey Medical School. She finished her pediatric hematology/oncology fellowship at University of North Carolina Hospitals with a research focus in lifespan care of sickle cell disease. She speaks French, Haitian Creole and Spanish.