Sickle cell disease (SCD) is an inherited blood disorder caused by a single gene mutation. In SCD, patients suffer from pain crises in which red blood cells “sickle” or change shape and restrict blood flow. Sickle cell affects about 100,000 Americans and is especially prevalent in those of African American, Middle Eastern, and Hispanic descent. There are different types of sickle cell disease because of variations in gene expression. The different types of sickle cell disease include hemoglobin SS, hemoglobin SC, and sickle beta thalassemia. Another condition relating to SCD is sickle cell trait.
What is sickle cell trait?
Sickle Cell trait (SCT) is when an individual has one normal gene and one sickle cell gene. According to the Center for Disease Control (CDC), people with SCT usually don’t experience the symptoms associated with sickle cell disease. Sickle cell trait is also an inherited condition. If a parent has a sickle cell gene, they may pass that gene onto their children. If both parents have sickle cell trait, there is a 50% chance that their child will have SCT and a 25% chance that their child will have sickle cell disease. Instances when both parents have sickle cell disease, the child will also have sickle cell disease.
Sickle Cell Trait Complications
While most people with SCT don’t experience any symptoms, the following conditions can potentially be harmful to those with SCT:
- High altitudes
- Increased pressure in the atmosphere
- Low oxygen levels in the air
Sickle Cell and Family Planning
According to a recent article published in the New York Times, the blood test to check for sickle cell trait is relatively simple, yet many couples don’t even realize they are carrying a sickle cell gene until pregnancy. There should be more information and resources for at-risk couples.
Genetic testing and IVF are ways that couples can prevent sickle cell disease. Couples with SCT can minimize sickle cell risk by choosing in-vitro fertilization (IVF). While this is an extremely expensive option, research shows that the lifelong costs of medical care for a patient with sickle cell disease is over $2 million. During IVF, doctors can check potential embryos for the sickle cell mutations. This process is called preimplantation genetic diagnosis. This way, a couple can ensure that the embryo implanted is one without the sickle cell genes.
Dr. Elliott Vichinsky, a sickle cell expert at the University of California, San Francisco believes that “sickle cell represents the worst and best of health care” because new therapies and diagnostics are being developed, but they aren’t trickling down to patients. With improved guidelines and a better medical system, patients can be more empowered to make the right medical decisions.