Question

Sickle cell anaemia is a standard example of:

Options

• A harmful substitution (point) mutation affecting haemoglobin

• A beneficial mutation that improves oxygen transport

• A chromosomal mutation involving loss of a segment

• A frameshift mutation caused by base deletion

Answer 1

Sickle cell anaemia is the standard example of a harmful substitution (point) mutation affecting haemoglobin. A single base change in the haemoglobin gene leads to a defective protein and a serious clinical disorder.