Question

Name the amino acid who substitutions at the 6th position of the beta chain of the haemoglobin molecule cause sickel cell anaemia​

Answer 1

The beta subunit has the amino acid valine at position 6 instead of the glutamic acid that is normally present. The alteration is the basis of all the problems that occur in people with sickle cell disease.

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Answer 2

The underlying abnormality is the substitution of glutamic acid by valine in the sixth position of the β-chain of haemoglobin. This results in the formation of haemoglobin S. When tension of oxygen is reduced, the haemoglobin S molecules polymerise and produce a crescent, sickle-shaped deformity in the red cells.