Jul 8, 2015

Biology Module 2 - 5.variation and natural selection 5.3 discuss the implications of changes in DNA nucleotide sequence for cell structure and function in sickle cell anaemia

5.3 discuss the implications of changes in DNA nucleotide sequence for cell structure and function in sickle cell anaemia 

Sickle cell anaemia us an inherited disease caused by a single substitution in the gene that codes for one of the polypeptide chains in haemoglobin.



Cell structure


The mutation in the DNA slightly changes the shape of the haemoglobin molecule allowing it to clump together.
The incorrect version of the haemoglobin molecule has a hydrophobic side chain (valine) on its outer surface where there should be a hydrophillic one (glutamte)


Cell Function

when the mutant blood cells are deprived of oxygen they become sickle shaped as valine molecules stick to themselves. so

  • hey also can not pass through capillaries which cause reduced blood flow and blockages which are painful and can do damage to tissue
  • they cannot carry oxygen (anaemia) so breathing is affected

The anaemia is the loss of red blood cells. These red blood cells are removed by the spleen and this results in there being a lot of blood flow to the spleen which causes less blood flow to the rest of the body.