The Importance of Early Screening for Sickle Cell Disease

Sickle cell disease (SCD) is an inherited blood disorder that affects millions of people worldwide, especially African Americans and other ethnic groups. Advances in treatment have improved the quality of life for many people, but early detection through regular screening remains critical to managing the disease and preventing serious complications.

This genetic disease is characterized by abnormally shaped red blood cells that resemble a crescent or “sickle.” Unlike healthy red blood cells, sickle cells are stiff and sticky, causing them to block blood vessels and limiting oxygen delivery to various organs and tissues. This results in attacks of intense pain called “sickle cell attacks,” as well as complications such as stroke, organ damage, and infection. If not properly managed, SCD can lead to premature death. The Sickle Cell Center at Loma Linda University Health Center offers a variety of treatments aimed at relieving pain, managing symptoms, and addressing complications such as anemia and dehydration. Treatment options include medications, intravenous (IV) infusions, blood transfusions, and gene therapy, all tailored to the individual's needs.

According to the Centers for Disease Control and Prevention, SCD affects approximately 100,000 people in the United States and more than 20 million people worldwide.

People with sickle cell trait carry the sickle cell gene but do not have sickle cell disease; however, they may experience symptoms. Akshat Jain, MD, MPH, Chief of Inherited Bleeding Disorders, Department of Child Health, Loma Linda University; Jain said many sickle cell gene carriers often remain unaware of their condition. “If both parents are sickle cell gene carriers, there is a 25 per cent chance that a child will be born with severe sickle cell disease,” Jain said.

Newborn screening for sickle cell disease has become standard practice in many countries, including the United States. Performed as part of a comprehensive blood test shortly after birth, screening can detect the traits of sickle cell disease and the full disease. Early detection allows healthcare providers to closely monitor a child's health and implement treatments that significantly reduce complications and mortality.

In underserved areas, community-based screening programs are already revealing surprising results: “A recent screening in a Seventh-day Adventist church in Ghana diagnosed five families who didn't know they carried the sickle cell gene,” Jain said. Events like this underscore the importance of making sickle cell screening more widely available, especially in African-American and Hispanic communities where the disease is most prevalent.

The United States military, including the Army and Air Force, and the National Football League (NFL) are among the organizations that offer genetic testing for sickle cell disease. This genetic testing is important because of concerns about muscle, heart, and kidney health, as carriers of sickle cell disease can face serious health problems.

As well as early detection, sickle cell trait can have long-term impacts on carriers' lives. Jain cited studies showing that carriers can face risks of heart defects, sudden cardiac death and rare, aggressive kidney cancer. “There are serious health implications and knowing your status is key to addressing these issues,” he said.

As a leader in sickle cell research, Loma Linda University is at the forefront of national studies focusing on the health effects of sickle cell trait, with the hope of eventually providing a gene therapy solution. LLU conducts national studies of sickle cell trait, studying the impact of being a carrier on human health, as well as running a unique and first-of-its-kind clinic program dedicated to sickle cell trait, providing medical care to families affected by sickle cell.

Read more about sickle cell disease here And learn About Pediatric Sickle Cell Care at Loma Linda University Health Center. If you or a loved one needs treatment for sickle cell disease or would like to be tested to find out their sickle cell status (carrier or disease), you can call 909-651-1910 or make an appointment to request more information.