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Question

Based on your understanding of genetic code, explain the formation of any abnormal hemoglobin molecule. What are the known consequences of such a change?

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Solution

Reason of abnormal hemoglobin shape in sicklecell anemia:

In sickle-cell anemia, point mutation occurs in the beta chain of haemoglobin molecules.
  • Codon GAG is mutated to GUG in the gene coding for the haemoglobin chain.
  • Due to which, at the sixth position in the beta chain of globin molecules, glutamic acid is substituted by valine.
  • As a result, the RBC is changed into sickle shape, and results in sickle-cell anaemia.


Consequences of abnormal hemoglobin shape:

Consequences of abnormal hemoglobin shape are as follows:
  • Sickle shape of RBCs do not allow them to move through narrow capillaries.
  • These RBCs get destroyed fast and transport of oxygen to organs gets affected.

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