Intro to pathology

Question 1

What causes sickle cell anaemia?

Answer 1

HbS is caused by a mutation in the B-goblin gene.
The 17th nucleotide is changed from thymine to adenine.
The 6th amino acid is changed from glutamic acid to valine.
The rate and extent of HbS polymerisation is directly proportional to the extent and duration of haemoglobin deoxygenation

Question 2

What are some symptoms of sickle cell anaemia?

Answer 2

• Acute pain
• Aute chest syndrome
• Microvascular occlusion (the clamping of an artery which leads to an aneurysm)