Question
Explain reason of sickle cell anaemia disease.
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Answer
The cause of sickle cell anaemia is the replacement of glutamic acid (Glu), an amino acid, by valine in the sixth position of the beta globin chain of the hemoglobin molecule. This replacement of amino acids in the globin protein is caused by the replacement of GAG by GUG in the sixth codon of the beta globin gene. Under low oxygen tension, polymerization takes place in the mutated hemoglobin molecule due to which the shape of RBC changes from biconcave to sickle shape.
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