Sickle cell anemia

Sickle cell anemia is a disease of red blood cells. It is caused by an autosomal recessive single gene defect in the beta chain of hemoglobin, which results in production of sickle cell hemoglobin (HbS).

Sickle cells can obstruct blood flow and break down prematurely, and are associated with varying degrees of anemia.

Obstruction of small blood capillaries can cause painful crises, damage to major organs, and increased vulnerability to severe infections.

Associated with lifelong morbidity and reduced life expectancy.

Typically diagnosed during neonatal screen using hemoglobin isoelectric focusing (Hb IEF) or high-performance liquid chromatography (HPLC) fractionation. Confirmatory testing is performed by an alternative method (Hb IEF, HPLC, electrophoresis, or DNA sequencing).

Treatment goals include symptom control (including pain management), and prevention and management of complications.

Sickle cell anemia is caused by an autosomal recessive single gene defect in the beta chain of hemoglobin, which results in production of sickle cell hemoglobin (HbS).

Other forms of sickle cell disease may occur if HbS is inherited from one parent and another abnormal hemoglobin, or beta thalassemia, is inherited from the other parent (e.g., HbSC or HbSB thalassemia).

Sickle cell disease is associated with varying degrees of anemia, red cell hemolysis, and obstruction of small blood capillaries causing painful crises, damage to major organs, and increased vulnerability to severe infections.

Sickle cell trait occurs if HbS is inherited from one parent and the normal HbA from the other.