What is sickle cell anemia?

Sickle cell anemia is indeed an inherited disease characterized by a defect in hemoglobin, the protein responsible for carrying oxygen in red blood cells. In individuals with sickle cell anemia, the hemoglobin molecules can polymerize, especially when oxygen levels are low, leading to the distortion of red blood cells into a sickle or crescent shape. These abnormally shaped cells can block blood flow in small vessels, causing pain and potential complications such as infections and organ damage.

The condition is a genetic disorder passed down from parents to their children, specifically caused by a mutation in the gene that encodes the beta chain of hemoglobin. This defect affects how hemoglobin forms, resulting in the unique properties of sickle cell hemoglobin (HbS) which contribute to the disease's symptoms.

Understanding this definition is crucial as it highlights that sickle cell anemia is specifically related to the presence of defective hemoglobin and is a genetically inherited disorder, setting it apart from other conditions that affect blood cells or the immune system.