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🧬 Gene mutation in sickle cell anaemia and chromosome mutation in Down’s syndrome

Sickle cell anaemia

 

Sickle cell anaemia is a part of sickle cell disease which is a genetic condition affecting the haemoglobin in our red blood cells. This impairs its function of carrying oxygen in the blood and hence can cause symptoms of anaemia such as dizziness, rapid heart rate and fatigue.

 

Quite rarely, a condition is caused by a simple point mutation of just one DNA base. This is the case in sickle cell anaemia. The single change, in this case a substitution, happens to result in a different amino acid being coded for altogether, as the codon the mutated base is part of codes for valine instead of glutamic acid in this case.

 

 

This results in different properties in the new haemoglobin, and as red blood cells contain millions of haemoglobin molecules, it alters the red blood cell structure and…

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