Sickle Cell Disease Flashcards
1
Q
What is sickle cell disease?
A
Inheritance of sickle β-globin chain
2
Q
What is the mutation?
A
Point mutation of valine for glutamic acid in position 6 of the β-chain
3
Q
What is the inheritance pattern?
A
Autosomal recessive
4
Q
What type of crises can be experienced in sickle cell?
A
Vaso-occlusive
Aplastic
Haemolytic
5
Q
What is a vaso-occlusive crisis?
A
Microcirculation obstructed by sickle cells causing ischaemic injury
6
Q
What is an aplastic crisis?
A
Insufficient production of RBCs
7
Q
What is a haemolytic crisis?
A
Increases rate of haemolysis
8
Q
How is sickle cell managed?
A
Folic acid
Vaccinations
Penicillin - hyposplenism
Hydroxycarbamide
9
Q
What are the consequences of sickle cell?
A
Reduced life expectancy
Acute + chronic pain
Stroke
Neurological problems
