Novel approaches to treatment of sickle cell anaemia

Abstract

Sickle cell anaemia, a chronic and often debilitating disease, results from homozygosity for a single amino acid substitution in the β-globin subunit of the haemoglobin molecule. Sickle haemoglobin (HbS), the product of this mutation, polymerises when deoxygenated, thus damaging the red blood cell and causing vaso-occlusive complications and haemolytic anaemia. Most cases of sickle cell anaemia are found in Africa. Until recently, treatment was directed at the management of disease complications. Patients with central nervous system events undergo exchange transfusions followed by chronic transfusion programmes. Patients with painful episodes, which result in many days missed from work and school are treated with narcotics and aggressive hydration. Novel therapy for sickle cell anaemia is designed to prevent complications through targeting disease mechanisms. Hydroxyurea is given to severely affected sickle cell anaemia patients in an attempt to prevent painful episodes, reduce hospital days, improve the patients’ overall quality of life, and perhaps to prevent or provide some degree of end-organ damage stabilisation. Other novel therapies, such as bone marrow transplantation and gene therapy, pursue a cure. For these novel therapies to be effective on a global basis they must be amenable to underdeveloped and poorer countries of the world.