Question

Sickle cell anemia occurs due to a point mutation that substitutes glutamic acid (hydrophilic) with valine (hydrophobic). Glutamic acid (HbA) is negatively charged, while valine (HbS) is neutral. What is the cause of sickle cell anemia?

1) Substitution of glutamic acid with valine
2) Point mutation
3) Hydrophilic to hydrophobic substitution
4) Negatively charged to neutral substitution

Answer 1

2) Point mutation. Sickle cell anemia is caused by a point mutation that substitutes glutamic acid with valine in the hemoglobin protein, leading to changes in protein structure and function.

Step-by-step explanation:

In sickle cell anemia, the cause of the disease is primarily due to a point mutation that substitutes glutamic acid (a hydrophilic and negatively charged amino acid) with valine (a hydrophobic and neutral amino acid) in the hemoglobin protein. This single amino acid substitution causes a change in the protein structure and function. The mutation is a result of a single base change (point mutation) in the gene encoding the hemoglobin protein.