MCBG conditions

Question 1

What is an amyloid fibre?

Answer 1

Misfolded insoluble forms of normally soluble protein

Question 2

What does deficiency in alpha 1 antitrypsin result in and why?

Answer 2

Emphysema. Elastase is unregulated so destruction of the alveolar walls.

Question 3

What is the cause of haemophilia A?

Answer 3

Defect in factor 8 so the activation of factor 10 is slower leading to slow blood clotting.

Question 4

What can defects in protein C lead to?

Answer 4

Thrombotic disease

Question 5

What are thalassaemias?

Answer 5

A group of genetic disorders where there is an imbalance between the number of alpha and beta globin chains.

Question 6

What is Beta thalassaemia?

Answer 6

Decreased of absent B-globin chain production.

Alpha chains are unable to form stable conformations. Symptoms appear after birth

Question 7

What are alpha thalassaemia?

Answer 7

• Decreased or absent A-globin chain production. Several different levels of severity.
• Beta chains can form stable tetramers with increased affinity for oxygen
• Onset before birth

Question 8

What is sickle cell anaemia?

Answer 8

• Mutation of the glutamate to valine in beta globin
• Result in a sticky hydrophobic pocket due to valine allow deoxygenated HbS to polymerise
• Sickled cells are more prone to lyse and are more rigid so can block vasculature