Medical Research Council - London Institute of Medical Sciences

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Out of Shape
27 February 2012

Out of Shape

Healthy red blood cells look like roughly hewn Frisbees and glide easily through blood vessels. Their job is to ferry haemoglobin as it carries oxygen from the lungs to the rest of the body. In people with sickle-cell disease, however, some red blood cells take on an abnormal shape (the cell at the top, seen here by electron microscopy). They can’t absorb oxygen efficiently and can cause blockages that damage organs and tissue. What’s more, these defective cells are quickly destroyed and cannot be replaced fast enough, resulting in anaemia. The problem comes from an inherited mutation in a single gene, haemoglobin-beta, which produces abnormal haemoglobin proteins that stick together and form rod-like structures stiffening and bending the cells out of shape. Gene therapy is a potential cure. Scientists have already treated mice with sickle-cell disease by inserting a corrected gene into their bone marrow stimulating normal haemoglobin production.

Written by Daniel Cossins

  • Originally published under Creative Commons (CC-BY-NC-ND); Courtesy of Wellcome Images

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