Treatments for Sickle Cell Disease: A Global Problem in Cell and Developmental Biology

Abstract

Copyright: © 2017 Broyles RH. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Sickle cell disease (SCD) is the world’s most common genetic disorder, being most prevalent among populations in the regions where malaria has been endemic [1]. SCD is caused by a point mutation (A → T) in the sixth codon of the β-globin gene on chromosome 11, resulting in the substitution of the amino acid valine for glutamic acid in the expressed protein. The result is that the mutated hemoglobin S (HbS) polymerizes and precipitates within the red blood cells (RBCs) during deoxygenation or dehydration, altering the RBC’s form from a flexible biconcave disc to a rigid elongated cell that is often in the shape of a crescent or sickle. Sickling results in a vascular train wreck, producing abnormally increased adhesion to other blood cells and to the vascular walls, hyper-coagulation, hemolysis, hypoxia, widespread inflammation, organ damage, and premature death. There are approximately 340,000 deaths per year attributed to the effects of SCD, most of the deaths being children under five years of age. Although the molecular basis of sickle cell has been understood for over sixty years [2,3], there is still no treatment that is highly effective and available to the millions of affected individuals worldwide.