Describe the effect of mutation on the individual with sickle cell anaemia?
please can this be explain this question in stages, in a simple but technical way.
(Sickle anemia is a diseased caused by a change to a single amino acid in the beta polypeptide chains of haemoglobin, how does this effect the above question)?
A person with sickle cell anemia has a point mutation. In this type of mutation, there is a base substitution on one nucleotide. This occurs in the beta hemoglobin gene and instead of the codon reading GAG, it reads GUG. Instead of glutamic acid, the amino valine is substituted into the protein chain. This single difference causes the hemoglobin protein to fold in a different shape than normal hemoglobin, making it difficult to transport oxygen efficiently and to fit through the capillaries easily because of the sickled and rigid shape. This results in the following symptoms: shorter life expectancy, anemia and crises resulting in pain, organ damage, spleen enlargement and fatigue, to name a few.