Q.Which of the following statements is the most appropriate for sickle cell anaemia?
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Start your 14-day free trial to unlock the full solution →Sickle cell anaemia is a genetic disorder caused by a molecular defect in haemoglobin, which cannot be treated with iron supplements and confers resistance to malaria in carriers.
Sickle cell anaemia is a fascinating and often misunderstood genetic disorder that profoundly illustrates how a tiny change at the molecular level can have widespread effects on an organism. To understand why all the given statements are appropriate, let's break down the nature of this disease.
First, let's consider why it is termed a molecular disease. Sickle cell anaemia arises from a specific point mutation in the gene encoding the beta-globin chain of haemoglobin, the protein responsible for oxygen transport in red blood cells. Specifically, at the sixth codon of the beta-globin gene, the normal DNA sequence GAG (which codes for the amino acid Glutamic acid) is replaced by GUG (which codes for Valine). This single amino acid substitution alters the structure of the haemoglobin molecule. The altered haemoglobin, known as HbS, behaves differently from normal haemoglobin (HbA). Under conditions of low oxygen tension, HbS molecules polymerize, forming long, rigid fibres that distort the red blood cells into a characteristic sickle shape. This structural change at the molecular level directly leads to the macroscopic symptoms of the disease, such as anaemia, pain crises, and organ damage. Therefore, it is fundamentally a disease rooted in a molecular defect.
Sickle cell anaemia is a classic example of a Mendelian disorder, specifically an autosomal recessive trait, where the disease manifests in individuals homozygous for the recessive allele ($Hb^S Hb^S$).
Given its molecular origin, it becomes clear why iron supplements are not an appropriate treatment. Sickle cell anaemia is not caused by a deficiency of iron, but rather by a structural defect in the haemoglobin protein itself. While individuals with sickle cell anaemia do suffer from anaemia (a low red blood cell count), this is due to the premature destruction of the fragile, sickle-shaped red blood cells, not a lack of iron to produce haemoglobin. Administering iron supplements would not correct the underlying genetic defect or the abnormal haemoglobin structure; in fact, it could potentially lead to iron overload, which is harmful. Treatment focuses on managing symptoms, preventing complications, and sometimes includes blood transfusions or medications to reduce sickling. …
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