MCBG conditions Flashcards Preview

Kofi: Pure clinical conditions > MCBG conditions > Flashcards

Flashcards in MCBG conditions Deck (8)
Loading flashcards...
1
Q

What is an amyloid fibre?

A

Misfolded insoluble forms of normally soluble protein

2
Q

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

A

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

3
Q

What is the cause of haemophilia A?

A

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

4
Q

What can defects in protein C lead to?

A

Thrombotic disease

5
Q

What are thalassaemias?

A

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

6
Q

What is Beta thalassaemia?

A

Decreased of absent B-globin chain production.

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

7
Q

What are alpha thalassaemia?

A
  • 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
8
Q

What is sickle cell anaemia?

A
  • 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