Sickle cell anaemia

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

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

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

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

Sickle cell disease is associated with varying degrees of anaemia, red cell haemolysis, 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.