What is true for thalassaemia?

Options

A. Nutritional disorder leading to anaemia
B. Autosomal recessive disorder leading to clotting abnormalities
C. Autosomal recessive disorder leading to reduced haemoglobin synthesis
D. Autosomal dominant disorder leading to reduced haemoglobin synthesis

Explanation

### Step-by-Step Solution for the Question: What is true for thalassaemia?

1. **Definition of Thalassaemia**:
Thalassaemia is a genetic disorder characterized by the reduced synthesis of hemoglobin, which is essential for transporting oxygen in the blood.

**Hint**: Remember that thalassaemia is primarily related to hemoglobin production.

2. **Genetic Basis**:
Thalassaemia is classified as an autosomal recessive disorder. This means that an individual must inherit two copies of the mutated gene (one from each parent) to express the disease.

**Hint**: Focus on the inheritance pattern of thalassaemia to understand its genetic implications.

3. **Cause of Thalassaemia**:
The disorder is caused by mutations in the DNA that affect the production of hemoglobin. These mutations can lead to either a complete absence or a reduced amount of hemoglobin.

**Hint**: Think about how mutations in DNA can impact protein synthesis, specifically hemoglobin in this case.

4. **Symptoms of Thalassaemia**:
Individuals with thalassaemia typically exhibit symptoms such as fatigue, weakness, pale skin (often described as pale yellow), slow growth, and dark urine. These symptoms arise due to insufficient oxygen transport in the body.

**Hint**: Consider how low hemoglobin levels can affect overall health and physical appearance.

5. **Misconceptions**:
It is important to clarify that thalassaemia is not a nutritional disorder, nor does it primarily lead to clotting abnormalities. Instead, it is a genetic disorder that specifically results in reduced hemoglobin synthesis.

**Hint**: Distinguish between genetic disorders and nutritional deficiencies to avoid confusion.

6. **Conclusion**:
The true statement regarding thalassaemia is that it is an autosomal recessive genetic disorder caused by mutations affecting hemoglobin production, leading to reduced hemoglobin levels and associated symptoms.

**Hint**: Summarize the key points about thalassaemia's genetic nature and its impact on hemoglobin to reinforce understanding.