Haemoglobinopathies Flashcards
1
Q
Thalassaemia major
A
Either no alpha or no beta chain
Will have anaemia, splenomegaly. Life expectancy <5 untreated, >30 treated.
2
Q
What is the most common haemoglobinopathy?
A
Sickle cell disease/HbS
3
Q
What sort of inheritance pattern in thalassemia?
A
Recessive, e.g. parents with thalassaemia minor will produce 25% normal. 50% carriers (minor) and 25% major
4
Q
Can we test for thalassaemia minor?
A
Yes, they will have a mild microcytic anaemia.
5
Q
How do we treat thalassemia + complication?
A
Blood transfusion
Iron overload, requires chelation therapy
6
Q
Can we cure thalassemia?
A
Yes - bone marrow/stem cell transplant!
