Sickle cell anaemia is induced by [2001]a)change of amino acid in a-ch...
Sickle cell anaemia is a hereditary disorder of autosomal nature caused by mutation of the gene controlling b-chain of haemoglobin. It involves substitution of glutamine by valine.
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Sickle cell anaemia is induced by [2001]a)change of amino acid in a-ch...
Sickle Cell Anaemia Overview
Sickle cell anaemia is a genetic disorder caused by a mutation in the hemoglobin gene, which leads to the production of abnormal hemoglobin known as hemoglobin S (HbS).
Key Mutation Details
- The mutation occurs specifically in the β-chain of hemoglobin.
- In sickle cell anaemia, the amino acid at the sixth position of the β-globin chain is altered from glutamic acid to valine.
Impact of the Mutation
- This single amino acid change drastically alters the physical properties of hemoglobin.
- HbS molecules tend to aggregate under low oxygen conditions, leading to the characteristic sickle shape of red blood cells.
- These sickle-shaped cells are less flexible and can obstruct blood flow, causing pain and various complications.
Comparison with Other Chains
- The α-chain of hemoglobin remains unchanged in sickle cell anaemia.
- Therefore, while mutations can affect both the α- and β-chains in other disorders, sickle cell anaemia specifically involves only the β-chain mutation.
Conclusion
- The correct answer to the question is option 'B': change of amino acid in the β-chain of hemoglobin. This pinpoint mutation is crucial for understanding the pathology of sickle cell anaemia and its clinical manifestations.