sickle cell anaemia Flashcards
1
Q
what is the pathophysiology of sickle cell anaemia?
A
- beta globin chain misshapen due to defect in beta globin gene
- red blood cells have elongated sickle appearance
- intravascular haemolysis
2
Q
how is sickle cell anaemia inherited?
A
autosomal dominant
3
Q
sickle cell disease - genes
A
- mutation in HBBs gene
2. mutation in HBBs gene
4
Q
sickle cell trait - genes
A
- mutation in HBBs
- normal HBB gene
( only carrier, mainly assymptomatic)