Shaunice Clark was a 21 year student and basketball player at California University of Pennsylvania, found dead in her dorm room this past January. Initially, her death was attributed to inhaling chewing gum, but Washington County Coroner Tim Warco announced that Clark in fact, died of Sickle Cell Trait (SCT).
While many are aware of the dangers of Sickle Cell Anemia, more is being learned about Sickle Cell Trait, a carrier status which can lead to sudden death in extremely rare cases.
Approximately 70,000-100,000 Americans have Sickle Cell Anemia, the most common form of an inherited blood disorder. Sickle Cell Anemia is an autosomal recessive disease, meaning that in order for you or your child to inherit sickle cell anemia, both parents must carry the Sickle Cell Trait, or the disease, and pass along an affected gene.
Knowledge of carrier status is important for reproductive planning since carriers can have children with sickle cell disease. Preimplantation Genetic Diagnosis (PGD), along with Invitro Fertilization (IVF) is an excellent tool in helping couples from passing along Sickle Cell Anemia to their unborn child. Through PGD, embryos that are disease free or only carry one mutation can be implanted. As with most recessive genetic diseases, the emphasis has historically been on preventing the disease as opposed to carrier status, generally a benign condition.
Over the past years however, there has been evidence of potential health risks inherent in carriers of the Sickle Cell Trait alone, a far more prominent number. Sickle Cell Trait affects 1 million to 3 million Americans and 8 to 10 percent of African Americans. Sickle cell trait can also affect Hispanics, South Asians, Caucasians from southern Europe, and people from Middle Eastern countries. More than 100 million people worldwide have sickle cell trait.
Persons with sickle cell trait have been shown to be more vulnerable than those without trait to heat stroke and muscle breakdown (rhabdomyolysis) when subjected to strenuous forced exercise According to a 2012 study from the University of Washington, the risk of exertional death in Division I football players with Sickle Cell Trait (SCT) was 1:827 which was 37 times higher than in athletes without SCT. Currently, the NCAA, in accordance with the American College of Sports Medicine (ACSM), American Society of Hematology and the Center for Disease Control (CDC), issues advisories to all of their coaches, warning them to be on the lookout for players with SCT and measures to try and prevent incidences from occurring.
The risks associated with SCT call to attention the potential need for Preimplantation Genetic Diagnosis (PGD) to rule out SCT or Carrier status as well. “If we can use IVF and PGD to avoid passing on the trait to the next generation, and preventing complications associated with the Trait, than we have used this technology wisely,” says John S. Rinehart MD, PhD and Partner in Reproductive Medicine Institute (www.teamrmi.com), a Reproductive Endocrinology and Infertility (REI) practice with offices throughout Chicagoland.