Sickle Cell Disease

Key points

• • Sickle cell disease is an inherited disorder caused by an abnormal haemoglobin (HbS) from a single change in the beta-globin gene.
• • When oxygen is low, the abnormal haemoglobin makes the red cells stiff and sickle-shaped, so they block small vessels and are destroyed early.
• • Blockage of the vessels causes painful crises, and repeated damage harms the spleen, bones, kidneys and other organs.
• • The early loss of a working spleen leaves patients prone to serious infection by certain bacteria.
• • It is confirmed by haemoglobin electrophoresis, and carriers (sickle cell trait) are usually healthy but can pass it on.