TWISTINESS is the key to the defective protein that causes sickle cell disease – a discovery that could help the hunt for the right gene therapy to cure the disease.
Sickle cell disease is caused by a single mutation in the gene for haemoglobin, the protein in red blood cells that carries oxygen around the body. The defective haemoglobin molecules are “sticky”, linking up to form long, helical chains, which in turn coil together into rigid ropes or needles (see Graphic).
These needles grow so long that they distort red blood cells into the characteristic sickle shape. The misshapen blood…
