Illuminating sickle cell disease

In the USA, approximately 300,000 infants are born with sickle cell disease (SCD) each year.1 In this article, Dr Nicola Davies discusses how SCD is treated and what solutions are on the horizon.

The power of red blood cells

The most important role of red blood cells (RBCs) is oxygen and carbon dioxide transportation through the body, a process that depends mainly on the hemoglobin protein. Defective hemoglobin can lead to a series of severe consequences for the overall functionality and morphology of RBCs and consequentially for the entire organism. SCD, for example, occurs due to a single point mutation in the HBB gene that encodes for β-globin.2 The mutated gene product affects the cellular membrane of RBCs, leaving them with a sickle-like shape, hence the name of the condition.