What is sickle cell disease primarily caused by?

Sickle cell disease is primarily caused by a genetic mutation affecting hemoglobin, specifically a single nucleotide substitution in the β-globin gene. This mutation results in the production of an abnormal form of hemoglobin known as hemoglobin S (HbS). Under certain conditions, such as low oxygen levels, this abnormal hemoglobin distorts red blood cells into a sickle or crescent shape. These sickle-shaped cells can lead to various complications, including pain crises, increased risk of infection, and organ damage due to impaired blood flow and oxygen delivery.

Understanding this genetic basis is crucial in comprehending the pathophysiology of sickle cell disease, as it explains the inheritance pattern (autosomal recessive), the clinical manifestations, and the potential approaches for treatment and management, such as gene therapy, hydroxyurea, and blood transfusions.