Haematological

Question 1

Alpha thalassaemia

Carrier/affected states

Answer 1

Normal αα/αα  
Silent carrier  α-/αα    
Carrier  α-/α-  Mild symptoms
Carrier αα/--   Usually more severe than α-/α- 
Disease --/--   Incompatible with life
HbH disease --/-α  Mild-mod haemolysis

Question 2

Alpha thalassaemia

Diagnosis

Answer 2

Microcytic anaemia
Electrophoresis may be normal
DNA analysis for SPECIFIC mutation preferred
Hb Barts in alpha thal at birth - resolve by 6months