Blocking HbS Polymerization in SCD

Cell. 2020 Mar 5;180(5):819. doi: 10.1016/j.cell.2020.01.019.

Abstract

Sickle cell disease (SCD) is caused by a point mutation in the β-globin gene that creates hemoglobin S (HbS). Upon deoxygenation, HbS forms long polymers that distort the shape of red blood cells, causing hemolysis and vaso-occlusion. Voxelotor inhibits HbS polymerization, the root cause of SCD complications. To view this Bench to Bedside, open or download the PDF.

MeSH terms

  • Anemia, Sickle Cell / epidemiology
  • Anemia, Sickle Cell / genetics*
  • Benzaldehydes / therapeutic use*
  • Hemoglobin, Sickle / antagonists & inhibitors*
  • Hemoglobin, Sickle / genetics
  • Humans
  • Point Mutation / genetics
  • Polymerization / drug effects
  • Pyrazines / therapeutic use*
  • Pyrazoles / therapeutic use*
  • beta-Globins / genetics*

Substances

  • Benzaldehydes
  • Hemoglobin, Sickle
  • Pyrazines
  • Pyrazoles
  • beta-Globins
  • voxelotor