Sickle cell disease Flashcards
1
Q
what causes sickle cell disease
A
a point mutation in the beta-globin gene GAG–> GTG
2
Q
what mode of inheritance is seen in sickle cell disease
A
autosomal recessive
3
Q
how many copies of the abnormal gene do you need to have sickle cell disease
A
2
4
Q
give five things that increase sickling
A
hypoxia infection acidosis cold low levels HbF
5
Q
what type of anaemia do you see in sickle cell disease
A
chronic haemolytic anaemia
macrocytic
