Sickle cell disease is a group of inherited disorders impacting hemoglobin, a crucial protein in red blood cells responsible for oxygen transport. Normally, red blood cells are flexible and disc-shaped, allowing them to navigate blood vessels effortlessly. However, in sickle cell disease, a gene mutation alters the hemoglobin, leading to misshapen, rigid, crescent- or “sickle”-shaped red blood cells. These sickle cells lose their flexibility, hindering their movement through blood vessels and potentially blocking blood flow to various parts of the body.
Smiling children representing diverse communities affected by sickle cell disease
This blood flow obstruction caused by sickle cell disease can result in serious health issues. A hallmark symptom is sudden, intense pain episodes known as pain crises, or vaso-occlusive crises. These occur due to blocked blood flow and often require medical intervention. Beyond pain crises, individuals with sickle cell disease are at risk for chronic pain and severe complications including stroke, lung conditions, eye problems, infections, and kidney disease.
Despite its severity, sickle cell disease is a manageable lifelong condition. Early screening and comprehensive treatment strategies play a vital role in managing symptoms, improving quality of life, and increasing longevity. With appropriate medical care, many individuals with sickle cell disease can lead full and active lives.
Significant progress is being made in sickle cell disease treatment. In December 2023, the FDA approved two groundbreaking gene therapies, representing transformative advancements in the field. The National Heart, Lung, and Blood Institute (NHLBI) is at the forefront, driving research and clinical trials to discover even more innovative therapies.
Sickle cell disease affects a significant population, with over 100,000 people in the United States and 8 million globally affected. In the U.S., it disproportionately affects individuals of African ancestry. Approximately 1 in 13 Black babies are born with sickle cell trait (carrying one sickle cell gene), and about 1 in 365 Black babies are born with sickle cell disease (inheriting two sickle cell genes). The NHLBI continues to champion research and clinical advancements to develop more transformative treatments for this disease.
