Lecture 2: Protein Diseases

Question 1

sickle cell anaemia

Answer 1

• molecular defect is a single amino acid substitution in the β chain of hemoglobin.
• Glutamate is replaced by valine.
• reduces the solubility of hemoglobin.

Question 2

alpha thallasemia

Answer 2

• loss or reduction of a single hemoglobin chain.
• result is low levels of functional hemoglobin
• decreased production of red blood cells

Question 3

beta thallasemia

Answer 3

• β chain of hemoglobin is not produced in sufficient quantity
• hence alpha chains form insolunle aggregates that precipitate inside immature red blood cells
• loss of RBC causes anaemia