Beyond the Sickle: Understanding Sickle Cell Disease

A Three-Part Series on the Disease, the People It Impacts, and the Fight for Better Health

September is Sickle Cell Awareness Month, an effort to educate the public about an inherited blood disorder that disproportionately affects Black Americans and remains, for most patients, a lifelong illness without a widely accessible cure.

 What sickle cell disease is

 Sickle cell disease is a group of inherited red blood cell disorders. People with the disease have hemoglobin, the protein that carries oxygen, that is abnormally shaped. Instead of round, flexible red blood cells that move easily through blood vessels, sickle cell patients' cells become hard, sticky and crescent- or "sickle"-shaped. Those misshapen cells die early, leaving a shortage of healthy red blood cells, and they can also get stuck in small blood vessels, slowing or blocking blood flow.

 That blockage is what causes the disease's hallmark symptom: sudden, severe episodes of pain known as pain crises. Over time, the disease can also lead to chronic anemia, frequent infections, stroke, acute chest syndrome, vision problems and damage to organs including the kidneys, spleen and lungs, according to the U.S. Centers for Disease Control and Prevention.

 Sickle cell disease is a genetic condition, meaning a child must inherit a sickle hemoglobin gene from both parents to have the disease. A person who inherits the gene from only one parent has sickle cell trait, which generally does not cause the disease itself but can be passed on to children.

 Who is diagnosed and why it matters to Black communities

 Sickle cell disease affects roughly 100,000 people in the United States, and it occurs in about 1 in every 365 Black or African American births, according to the CDC. The disorder also affects Hispanic Americans, occurring in about 1 in 16,300 births, along with smaller numbers of people from Middle Eastern, Mediterranean and South Asian backgrounds. The trait evolved because it offers some protection against malaria in regions where the disease is endemic, which is part of why sickle cell is concentrated in populations with ancestry from sub-Saharan Africa, the Caribbean, the Mediterranean, the Middle East and India.

 Because the disease is concentrated so heavily in the Black community, advocates say it has historically been underfunded and understudied relative to other genetic disorders, and patients have reported difficulty finding physicians and emergency rooms familiar with how to manage their pain crises. Advocacy groups use Sickle Cell Awareness Month to push for more research funding, better pain management protocols and wider insurance coverage, since many patients rely on Medicaid.

 The FDA in December 2023 approved two gene therapies, Casgevy and Lyfgenia, that are considered potentially curative for some patients, a milestone advocates have pointed to as a long-overdue advance for a disease that had gone decades with few new treatment options.

Tomorrow - Part II: A persistent barrier: being seen as "drug-seeking" - Sickle Cell Patients and advocates say one of the biggest obstacles to sickle cell care isn't access to a clinic, it's being believed once they get there. Because the most severe pain crises are typically treated with opioids, sickle cell patients, the vast majority of whom are Black, say they are routinely suspected of exaggerating their pain or "drug-seeking" rather than being treated as people managing a legitimate, excruciating medical emergency.