September is National Sickle Cell Awareness Month – a time to remember the tremendous impact of this inherited blood disorder on human suffering, particularly with regard to people of color. It brings together the sickle cell individual, caregiver, provider and advocacy community to highlight efforts to improve the quality of care, access and health disparity issues regarding this disease.
The origin of sickle cell disease dates back 7,000 years to a single gene mutation of the hemoglobin molecule, which reduced the risk of death from Malaria. However, individuals with two copies of this gene produce sickled cells that are rapidly destroyed by the body, leading to anemia or clump in the small vessels, causing poor circulation, both of which subject them to a life of acute and chronic pain, organ injury, and premature death. Sickle cell disease has an annual medical cost of $3.3 billion per year. The emergence of new therapies is likely to increase that cost to in excess of $20 billion in the next 5 years.
Knowledge is power. This couldn’t be truer when it comes to understanding one’s genetic makeup, particularly for conditions like sickle cell disease (SCD) and sickle cell trait (SCT). With over 100,000 individuals in the U.S. with Sickle Cell Disease, it is the most common of the “rare diseases” in America. A lesser-known statistic is that up to 3 million Americans of all ethnicities possess the single gene mutation that defines the sickle cell trait. Not knowing your status not only puts your health at potential risk but could also impact the health of future generations within your family.
With every birth, there’s an opportunity to discover and act on potentially critical genetic information. Since 2006, the U.S. has been screening newborns for SCD and SCT. This laudable initiative recognizes the serious health implications of SCD and the potential, albeit lesser-known, repercussions of SCT. However, the endeavor loses its value if those diagnosed remain uninformed about their status.
Consider the gravity of the numbers: Each year, about 60,000 Americans are born with SCT. The trait doesn’t discriminate by race, though it’s more prevalent in Black newborns, it presents in all ethnicities. In fact, a considerable 9 percent of babies born with SCT are identified as white. Now, consider the dangers associated with not knowing your SCT status — renal complications, splenic infarct, and even life-threatening situations when exposed to certain environmental conditions.
So, where does the disconnect lie? It’s a multi-pronged issue. From lapses in doctor-parent communication to inconsistencies in record keeping, many factors contribute to this lack of awareness of one’s status. But perhaps more worrying are the social and cultural barriers. Genetic conditions can sometimes come with unwarranted stigma, leading to a curtain of silence. It is a fact that despite 17 years of nationwide screening, children are born every day in this country diagnosed with sickle cell disease at or months after their birth. And in most cases, it is because their parents were unaware of their own SCT status.
Knowing your SCT status is crucial for several reasons. It can profoundly impact family planning decisions; parents who do not know their status can unknowingly pass on the trait or even the full-blown disease to offspring. While SCT might not present immediate health concerns for many, specific conditions or environments can trigger complications such as rhabdomyolysis, splenic infarction or glaucoma.
Additionally, renal medullary carcinoma, a very rare form of kidney cancer, has been associated with the sickle cell trait. Not knowing one’s SCT status deprives them of the opportunity to take necessary precautions. Beyond health, awareness allows individuals to participate in relevant research, contribute to community discussions, and advocate for better healthcare provisions and support for themselves and their loved ones.
The path forward requires a multi-faceted approach. Healthcare providers must prioritize communicating the results of newborn screenings to parents or guardians effectively. Public health campaigns, specifically tailored to dispel myths and address the concerns of high-risk populations, can be instrumental. Community leaders and influencers can play a pivotal role in educating and ensuring the information reaches every corner.
When it comes to sickle cell disease, knowledge is more than just power—it’s a lifeline. For those with SCT, understanding their status can be the difference between informed decisions and unforeseen complications. As a society, we must prioritize this awareness, ensuring that everyone knows their status and understands its implications. The wellbeing of current and future generations depends on it.