Sickle cell
disease

What is sickle cell disease? SCD is an inherited blood disorder that affects the red blood cells, which are essential for carrying oxygen to all organs and tissues of the body. SCD causes severe pain, organ damage and shortened life span due to misshapen or “sickled” blood cells. People with SCD can experience painful blood vessel blockages, also known as vaso-occlusive crises (VOCs), that can lead to acute chest syndrome, stroke, jaundice and symptoms of heart failure. Individuals may also experience anemia, which can result in end-organ damage and premature death. VOCs are the hallmark of SCD, often resulting in severe and debilitating pain. Current standard treatment options for SCD are largely symptomatic and do not adequately address the burden of disease or alleviate the need for chronic care. Most often, treatment is focused on relieving pain, minimizing organ damage, maintaining hydration and addressing fevers, requiring medication and sometimes monthly blood transfusions and frequent hospital visits. SCD requires lifelong treatment and significant use of health care resources, and ultimately results in decreased quality of life, reduced life expectancy and reduced lifetime earnings and productivity.

How is SCD diagnosed? In the United States and Europe, most newborns are screened for SCD, while symptoms usually take about 6 months to present.   

What is the underlying cause of disease? SCD occurs due to a mutation in the beta-globin (HBB) gene. The HBB gene encodes for a key component of hemoglobin, the oxygen-carrying molecule in red blood cells. This mutation causes the production of abnormal hemoglobin, called sickle hemoglobin (HbS). Because of this abnormal hemoglobin, red blood cells become rigid and block small blood vessels, resulting in a lack of oxygen delivered to the tissues. This can cause problems in every organ in the body. 

These programs are investigating treatments or outcomes that have not all received approval from a health authority. The information presented is not intended to convey conclusions of safety or efficacy. There is no guarantee that the outcome of these studies will result in approval by a health authority.

For more information about our sickle cell disease studies in the U.S., visit the clinical trials website. For information about non-U.S. sites, visit clinicaltrials.gov.