Haematology - Anaemia, Haemoglobinopathies Flashcards
1
Q
Where is the coding for alpha chain and beta chain of Haemoglobin located?
A
Alpha chain - genome 16
Beta chain - genome 11
2
Q
HbS occurs during what gets substituted
A
Valine for glutamic acid substitution in the beta chain
3
Q
What is HbE?
A
G-> A substitution in beta gloving. Behaves like beta thal mutation.
HbE/HbE is not clinically significant
4
Q
What is the first line test when testing for thalassaemia?
A
HPLC
5
Q
Elevated HbA2 is associated with?
A
Beta thal carrier state but does not differentiate beta0 or beta+.
Normal in alpha thal carriers but HbH peak is seen in HPLC.
