Hemoglobin in Health and Disease — 2024 Paper I
Hemoglobin in health and disease
Model Answer
VAID ICSIntroduction
Haemoglobin is an iron-containing protein present in red blood cells. It carries oxygen from the lungs to body tissues and assists in returning carbon dioxide to the lungs. Linus Pauling and colleagues (1949) described sickle-cell anaemia as a “molecular disease,” establishing a link between genetic mutation, altered haemoglobin and disease.
Haemoglobin in Health
Normal haemoglobin contains four globin chains, each attached to an iron-containing haem group. Its major forms are:
- HbA: the main adult haemoglobin
- HbA2: a minor adult form
- HbF: foetal haemoglobin, which has a greater attraction for oxygen
Its major functions are:
- transporting oxygen to body tissues;
- carrying part of the carbon dioxide back to the lungs;
- maintaining the acid–base balance of blood;
- releasing more oxygen in active tissues where carbon dioxide is high.
Haemoglobin in Disease
Structural abnormalities
A genetic mutation may change the structure of haemoglobin.
In sickle-cell disease, valine replaces glutamic acid at the sixth position of the β-chain.
Under low oxygen conditions, HbS molecules stick together and make red blood cells rigid and sickle-shaped.
This causes anaemia, pain, blocked blood vessels and organ damage.
Other structural variants include HbC, HbE and HbD.
Reduced production of haemoglobin chains
In thalassaemia, the body produces insufficient α- or β-globin chains. This leads to destruction of red cells and severe anaemia. Serious cases may require regular blood transfusions and iron-removing medicines.
Other conditions
- Iron-deficiency anaemia: reduced haemoglobin formation because of insufficient iron.
- Carbon-monoxide poisoning: carbon monoxide binds strongly with haemoglobin and prevents oxygen transport.
- Polycythaemia: excessive red blood cells increase blood thickness and the risk of clotting.
Anthropological Significance
Haemoglobin variants reveal the relationship between genes, environment and population history. J. B. S. Haldane (1949) connected blood disorders with malaria, while A. C. Allison (1954) showed that sickle-cell carriers have partial protection against severe malaria. This is a classic example of balanced polymorphism.
In India, HbS is found among several populations of central, western and southern India, while HbE is common in the North-East. Their distribution reflects natural selection, migration, endogamy, genetic drift and founder effect—not fixed racial divisions.
Conclusion
Haemoglobin is essential for respiration and bodily balance. Its disorders demonstrate how mutation, ecology, mating patterns and population history jointly shape human biological variation. Thus, haemoglobin is important to both medical genetics and biological anthropology.
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